Click on an institution below to see top research discoveries by that institution. Then click on any of the discoveries to see more information.
Simulator for Robotic Surgery Training
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloThenkurussi Kesavadas, PhD, professor of mechanical and aerospace engineering at University at Buffalo Jacobs School of Medicine and Biomedical Sciences and head of its Virtual Reality Lab, and Khurshid A. Guru, MD, director of the Center for Robotic Surgery at Roswell Park Cancer Institute This simulator is one of the world’s first to closely approximate the “touch and feel” of the da Vinci™ robotic surgical system. The most widely used system of its kind in the world, the da Vinci robotic surgical system affords all the features that an experienced surgeon needs to ensure equivalent or superior outcomes to conventional surgery. The Robotic Surgical Simulator (RoSS) addresses the rapidly growing need for a realistic training environment for robot-assisted surgery, a field that is expanding exponentially. Robotic surgeries are generally less invasive, cause less pain, require shorter hospital stays and allow faster recoveries than conventional surgery. Robotic-surgical systems are increasingly being used for gynecologic, gastrointestinal, cardiothoracic, pediatric and other urologic surgeries. UB’s Virtual Reality Lab is one of very few such labs in the nation to focus on developing haptic technologies—technologies that bring a sense of touch to virtual reality.
Serum for treatment of bacterial meningitis
Institution: Columbia University College Of Physicians and SurgeonsHattie E. Alexander, MD, assistant attending physician at Babies Hospital (now called NewYork-Presbyterian’s Morgan Stanley Children’s Hospital) and professor of pediatrics at Columbia University College of Physicians & Surgeons Alexander, who worked as a bacteriologist at the U.S. Public Health Service before earning her medical degree, published a paper describing the development of a serum to treat infants and children with influenzal meningitis, a nearly always fatal illness caused by infection with Haemophilus influenza (Hib). The serum reduced the mortality rate for babies and children with this disease to 20 percent. Combining the serum with sulfa drugs and antibiotics further lowered the mortality rate. Although the development of antibiotics eventually made the serum obsolete, Alexander’s knowledge led her to connect Hib with croup, a common disease in babies and children.
Apgar score for assessing newborns
Institution: Columbia University College Of Physicians and SurgeonsVirginia Apgar, MD, professor of anesthesiology, Columbia University College of Physicians & Surgeons Apgar’s interest in obstetrical anesthesia led her to develop the Apgar score, a standardized rating scale that allows nurses in the delivery room to assess a newborn’s heart rate, respiratory effort, muscle tone, reflex response, and color. Apgar presented the method at a scientific meeting in 1952 and published her findings a year later. The assessment, given both one and five minutes after birth, is routinely used in delivery rooms. In 1964, a multi-institutional study of more than 17,000 babies showed that the Apgar score, especially the five-minute test, can predict survival and neurological development in newborns.
Drugs for leukemia and other cancers, and potential therapies for gout and malaria
Institution: Albert Einstein College of MedicineVern L. Schramm, PhD, professor of biochemistry and Ruth Merns Chair in Biochemistry at Albert Einstein College of Medicine Dr. Schramm and his collaborators have developed synthetic compounds based on transition-state inhibitors, which prevent enzymatic reactions. They have developed drugs to treat leukemia and gout, which have moved into clinical trials, and to develop antibiotics that don’t trigger resistance. This knowledge also permits drug design for other disorders.
Lippes Loop intrauterine contraceptive device
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloJack Lippes, MD, University at Buffalo Jacobs School of Medicine and Biomedical Sciences Dr. Jack Lippes developed the first double-S intrauterine contraceptive device, the standard against which other IUDs came to be compared. As an obstetrician-gynecologist in the 1950s, Lippes fielded many complaints from patients dissatisfied with their limited options for birth control. The need for “something better,” as Lippes says, prompted him to research a new design for the intrauterine device. At that time in the United States, controversy surrounded IUDs’ safety and effectiveness. As Lippes embarked on his research, many discouraged him, calling it “radical” and warning him that he would be sued. And still he forged ahead, vigorously pursuing a more effective IUD design than what had been invented to that point. The result was the plastic double “S” loop—a trapezoidal-shaped IUD that closely fit the contours of the uterine cavity, thereby reducing the incidence of expulsion.
Lung surfactant for premature infants
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterRobert Notter, M.D., Ph.D., professor Emeritus of Pediatrics, Neonatology, and Environmental Medicine, and laboratory colleagues. Pulmonary surfactant is a vital substance that coats the tiny air sacs of the lungs and is required for normal breathing. This coating is often missing or deficient in the lungs of preemies, resulting in a condition known as Respiratory Distress Syndrome (RDS) that was a leading cause of infant mortality prior to the invention of surfactant therapy. The UR group developed a lung surfactant drug derived from calf lungs and was used successfully in treatment in New York in the 1980s. Later, a newer version called Infasurf was approved by the FDA. It’s made in upstate New York and widely used to save the lives of premature infants.
Advanced clinical care for transplant patients: Intravenous pulse dose methylprednisolone effectively reverses acute rejection of transplanted kidneys. Laid the foundation for kidney perfusion machine. First clinical study on living-unrelated kidney transplants based on HLA matching.
Institution: SUNY Downstate Medical CenterSamuel Lee Kountz, MD, Professor and Chair of Surgery, SUNY Downstate Medical Center, 1972-1981. Kountz was a pioneering African-American renal transplant surgeon who developed new techniques to preserve organs and reduce organ rejection. He conducted a significant portion of his research prior to his appointment at SUNY Downstate Medical Center. However, while at Downstate, Kountz developed a world-class kidney transplant program that ensured his research would be translated into clinical care, and that access to high quality renal transplant care would be available to a diverse inner city population. The program Kountz developed at Downstate was immersed in clinical kidney transplantation, recovery, and perfusion preservation of deceased door kidneys, as well as animal laboratory research in organ preservation and transplantation. Kountz was appointed chair of surgery at Downstate in 1972. Prior to this, Kountz had served on the faculties of Stanford and the University of California-San Francisco, where he served as director of the renal transplantation service. In 1960, Kountz was a member of the team that performed the first successful kidney transplant on the West Coast. In 1962 he was awarded a fellowship to study in London; while there, with W.J. Dempster, Kountz discovered that cells of the host attacked and destroyed the small blood vessels of the transplanted kidney, thus causing the kidney to die from lack of blood supplied oxygen. At Stanford, Kountz and colleagues discovered that high doses of methylprednisolone delivered over carefully timed intervals could arrest and/or reverse the rejection of a transplant, a finding that provided the only effective remedy for many years. Prior to the development of Kountz’s technique of detecting and treating rejection, less than 5 percent of transplant patients survived for more than two years. At the University of California, Kountz collaborated with Folkert Beltzer to develop equipment and techniques for preserving kidneys by perfusion. The machine they developed allowed kidneys harvested for transplant to remain viable for up to 72 hours, thereby permitting kidneys to be safely transported for long distances and be shared on the basis of best available match. At Downstate, Kountz chose Khalid M.H. Butt to lead Downstate’s transplant division and together they created a program noted for the intensity of its clinical activity, performing over 100 kidney transplants a year. Downstate achieved its landmark 1000th kidney transplant ahead of any other transplant center in the region. In 1978 Butt was appointed the first president of the fledgling New York Regional Transplant Program (later to be called the New York Organ Donor Network, and now LiveOn New York), the major organ recovery agency in the New York metropolitan area. While Kountz’s time at Downstate was cut short (he was forced to retire after contracting a neurologic illness during a 1977 trip to Africa and tragically died in 1981 at the age of 51) he used his prominence and charisma to champion transplantation and to build at Downstate the busiest transplant program on the Eastern seaboard. At the time of Kountz’s appointment to Downstate – and to this day – Brooklyn had a high incidence of end-stage renal disease. Kountz and those who have followed in his footsteps at Downstate have ensured that residents of the borough and region benefit from the most-up-to date research in kidney transplantation.
High-dose anticholinergic therapy for torsion dystonia
Institution: Columbia University College Of Physicians and SurgeonsRobert E. Burke, MD, the Alfred and Minnie Bressler Professor of Neurology, and Stanley Fahn, MD, the H. Houston Merritt Professor of Neurology at Columbia University College of Physicians & Surgeons Torsion dystonia is a movement disorder that causes sustained, twisting involuntary movements. A severe form in children causes incapacitating, generalized muscle spasms. Before the use of high-dose trihexyphenidyl, there was no established therapy for the condition. Burke, Fahn, and colleagues led a clinical trial demonstrating that high-dosage anticholinergic therapy with trihexyphenidyl produced significant, sustained benefit for most patients. Anticholinergics remain a mainstay of treatment of this condition.
Researchers produce first map of New York City subway system microbes
Institution: Weill Cornell MedicineChristopher Mason, PhD, associate professor of physiology and biophysics at Weill Cornell Medicine The microbes that call the New York City subway system home are mostly harmless, but include samples of disease-causing bacteria that are resistant to drugs — and even DNA fragments associated with anthrax and Bubonic plague. The map serves as a baseline assessment, and repeated sampling could be used for long-term, accurate disease surveillance, bioterrorism threat mitigation, and large scale health management for New York.
DNA Repair Captured in Real Time
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloPiero Bianco, PhD, microbiologist at University at Buffalo Jacobs School of Medicine and Biomedical Sciences Bianco was the first to film a DNA motor protein “unzipping” a double-strand of bacterial DNA in real time. Knowing how DNA unwinds, copies and repairs itself—what starts it, what stops it and why—is vitally important to DNA research and could lead to major advancements in cancer treatment. DNA motor proteins are natural drug targets because they allow DNA to copy and repair itself, causing the uncontrolled cell growth in cancer. Researchers know that many cancer drugs stop cell growth, but they don’t know precisely how.
Institution: New York Medical CollegeEdwin D. Kilbourne was a member of the College faculty from 1992 until his retirement in 2002, when he was named professor emeritus of microbiology and immunology. Edwin D. Kilbourne established the NYMC laboratory that supplied the recombinant strains used in preparing the annual influenza vaccine used worldwide, and it continues today. Dr. Kilbourne donated a catalog of nearly 200 influenza virus reassortants and mutants to the National Institutes of Health to enable scientists free access to the library of viral artifacts, named the Kilbourne/New York Medical College Archive.
Development of lung volume reduction surgery for emphysema
Institution: Columbia University College Of Physicians and SurgeonsMark E. Ginsburg, MD, associate professor of surgery, Columbia University College of Physicians & Surgeons Ginsburg was one of the early adopters of a surgical procedure to reduce diseased portions of the lung in people with emphysema. Previously, people with emphysema relied on medical therapies. Columbia University Medical Center was the only New York City-based participant in the National Emphysema Treatment Trial (NETT), which Ginsburg helped design . In 2003, NETT demonstrated that lung volume reduction surgery improves quality of life for some patients with severe emphysema. Currently, Columbia is one of 17 centers nationwide selected by the Centers for Medicare & Medicaid Services to perform the procedure.
Development of totally endoscopic ablation for treatment of atrial fibrillation
Institution: Columbia University College Of Physicians and SurgeonsMichael Argenziano, MD, Columbia University College of Physicians & Surgeons Surgical ablation has been used to treat patients with atrial fibrillation (irregular heartbeat) that is not well-controlled with medical therapy. During ablation, areas of the heart that are sending abnormal electrical signals are destroyed with heat or cold. In 2003, Argenziano and colleagues demonstrated that patients with longstanding atrial fibrillation could be treated successfully with a minimally invasive, robotic surgical procedure, reducing postoperative recovery time.
Role of osteocalcin outside of bone
Institution: Columbia University College Of Physicians and SurgeonsGerard Karsenty, MD, PhD, the Paul A. Marks Professor of Genetics and Development, Professor of Medicine, and Chair of the Department of Genetics and Development at Columbia University College of Physicians & Surgeons Karsenty’s research has uncovered that osteocalcin, a hormone that is released by bone, plays several important roles in human health. In a series of studies in mice, he found that osteocalcin helps to regulate blood sugar by stimulating the release of insulin into the bloodstream and improving the uptake of glucose in cells throughout the body. Karsenty also found that osteocalcin helps to regulate male fertility, brain development, and cognitive functions such as learning and memory.
Development of extracorporeal oxygenator used in open-heart surgery. First successful open heart surgery in New York State.
Institution: SUNY Downstate Medical CenterClarence Dennis, MD, MA, PhD, SUNY Downstate Medical Center, professor and chair of surgery, 1951-1972. Dennis pioneered the heart-lung bypass machine and attempted the world’s first open heart operation supported by such a device in April, 1951, while at the University of Minnesota. Five months later, in September 1951, he transferred to SUNY Downstate Medical Center and continued his research on the technology and surgical techniques that would make surgical treatment of heart disease possible. The heart-lung machine was one of the most important medical technologies developed in the post-World War II era, making possible a vast expansion in the surgical treatment of heart disease. One of Dennis’s heart-lung machines is housed in the Smithsonian.
Evidence that rheumatoid arthritis is an immune complex disease
Institution: New York University School of MedicineGerald Weissmann, MD, NYU School of Medicine Dr. Weissmann discovered evidence that rheumatoid arthritis is an immune complex disease (provoked perhaps by genetic programs that misdirect immune responses to oral bacteria), and that crises in Systemic Lupus Erythematosus are provoked by intravascular complement activation.
Institution: Columbia University College Of Physicians and SurgeonsYaakov Stern, PhD, professor of clinical neuropsychology, Columbia University College of Physicians & Surgeons Dementing processes such as Alzheimer’s disease (AD) were originally considered purely pathology-driven. Stern developed the concept of cognitive reserve (CR) based on observations that lifetime “exposures” such as education, occupation, and late-life leisure activities could reduce the risk of developing dementia. The concept of CR posits that such exposures can lead to differences in the resilience or plasticity of cognitive processes, resulting in different levels of susceptibility to functional impairment due to aging, pathology, or other neurological problems. Subsequently, Stern demonstrated that individuals with the same amount of underlying AD pathology had vast differences in clinical severity based on these exposures. The concept of CR has had a major impact on our understanding of cognitive aging and dementing processes and raises testable hypotheses for intervention.
First federally-funded dialysis clinic; “Suitcase” dialysis. Instrumental in obtaining Federal approval to have Medicare cover dialysis costs.
Institution: SUNY Downstate Medical CenterEli A. Friedman, MD, Distinguished Teaching Professor Emeritus and former Chief of the Downstate’s Renal Division. Although he did not invent hemodialysis – that achievement is credited to Willem Kolff of the Netherlands (and later an adjunct professor at Downstate) who built a crude artificial kidney to save patients during WWII — Friedman was instrumental in making the procedure available to a wide public in this country. The original techniques for hemodialysis were crude, in that each dialysis session required an incision and sutures. Even with the introduction of the Scribner shunt in the early 1960s, the medical community was not convinced of the procedure’s efficacy and its use was limited. In mid-1964, the United States Public Health Service offered Friedman a $260,000 start-up grant for a demonstration program to prove the efficacy of chronic hemodialysis. The joint Kings County/SUNY Downstate Hemodialysis Program was the first federally-funded dialysis facility, and it became a model for the rest of the nation. At first, hemodialysis was performed for 12 to 16 hours overnight, two or three times a week. Blood transfusions were required to correct anemia, and infections often occurred as a result of transfusions. Friedman continued to refine and improve dialysis techniques, in effect inventing clinical nephrology as needed. Strategy in Renal Failure, the tactical guide Friedman wrote in 1978, remains a standard text in the field. Friedman helped to change the medical question about dialysis from whether it could keep patients alive to how best to administer dialysis. Friedman elucidated renal syndromes in diabetic patients that lead to end stage renal disease (RSRD), and people with diabetes-related kidney failure, once excluded from hemodialysis entirely, grew quickly to some 20 percent of the hemodialysis population. From 1986 through 1989, Downstate was the only institution in New York State to investigate erythropoietin in renal failure (it was approved by the FDA in 1989). Erythropoietin is a hormone produced by the kidneys that combats anemia by stimulating the growth of new red blood cells. Its deficiency in renal failure is the main reason so many dialysis patients suffer extreme anemia. In 1996 Friedman published a study in the New England Journal of Medicine that conclusively showed that inadequate dialysis in patients with ESRD was a key reason for insufficient response to erythropoietin; increasing dialysis time could prolong survival. Once dialysis became widespread and home dialysis was feasible, Friedman introduced a “suitcase kidney,” a portable dialyzer that allows patients to travel away from home. (Individuals undergoing maintenance dialysis are limited in mobility and rehabilitation by the need to conform to a schedule developed by the dialysis center.) Friedman founded the National Association of Patients on Hemodialysis, now the American Association of Kidney Patients. In 1972, with Friedman’s help – and the help of a Downstate patient who dialyzed himself on the floor of Congress — the group successfully lobbied Congress for Medicare funding for dialysis. The bill passed, ensuring that virtually any American who needs it can receive the life-saving procedure Friedman helped introduce.
SmartPill: an ingestible diagnostic-sensing capsule that measures how the gastrointestinal tract is functioning
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloMichael D. Sitrin, MD, professor of medicine at University at Buffalo Jacobs School of Medicine and Biomedical Sciences, co-directed the seven-site clinical trial of the SmartPill The diagnosis and treatment of gastrointestinal (GI) disorders have been greatly improved by the SmartPill, an ingestible diagnostic sensing capsule that travels every inch of the 30-foot-long human GI tract while making and recording key measurements.
Development of radioimmunoassay used to measure substances such as viruses, drugs, or hormone levels in the blood
Institution: Icahn School of Medicine at Mount SinaiRosalyn Yalow, PhD, Distinguished Service Professor at Icahn School of Medicine at Mount Sinai, who won the Nobel Prize in Physiology or Medicine for her discovery, and Solomon Berson, MD, Chair of Medicine Icahn School of Medicine at Mount Sinai, who died before receiving the award. Radioimmunoassay is a very sensitive in vitro assay technique used to measure substances such as viruses, drugs, or hormone levels in the blood. The discovery made it possible to screen blood donations given by donors.
Nitric oxide as a signaling molecule in the cardiovascular system.
Institution: SUNY Downstate Medical CenterRobert F. Furchgott, PhD, 1998 Nobel Laureate. 1996 Albert Lasker Basic Medical Research Award. SUNY Downstate Medical Center, professor and chair of Downstate’s Department of Pharmacology. Furchgott was the first to discover that the endothelium, a layer of cells at the innermost surface of blood vessels, releases a substance that causes the underlying smooth muscle to relax. He called this substance endothelium-derived relaxing factor, or EDRF. It was the first time attention had been called to this crucial role that the endothelium plays in cardiovascular health and disease. Furchgott subsequently demonstrated that EDRF was in actuality nitric oxide, a chemical that plays a role in the management of heart disease by keeping blood vessels open and facilitating blood flow. With others, he further demonstrated that the substance appeared to be responsible for the effects of other pharmacologic agents, including ATP, ADP, substance P, and bradykinin in mediating the relaxation of isolated arteries from multiple anatomical sites. Furchgott’s discoveries have helped scientists understand and find new treatments for cardiovascular diseases and a host of other conditions. It mediates the control of blood pressure and blood flow, airway tone, gastrointestinal motility, penile erection, and the fighting of cancer and infection. In the brain, nitric oxide is an important neurotransmitter that is revealing clues to memory and learning.
BioBlower Air Sterilization Technology
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloJames F. Garvey, PhD, University at Buffalo Jacobs School of Medicine and Biomedical Sciences professor of chemistry, with John Lordi, PhD, research professor in the UB Department of Mechanical and Aerospace Engineering The powerful air-sterilization device eradicates airborne pathogens, such as avian flu, SARS and influenza viruses, as well as airborne biological pathogens, such as anthrax. It can create sterile environments anywhere—from government buildings to mass transit systems to military bases. Applied to health care, the BioBlower could be a powerful antidote to hospital-acquired infections, which kill 100,000 people a year.
Protein kinase M zeta (PKMzeta), a molecule essential for memory storage and in creating and retaining long-term memories.
Institution: SUNY Downstate Medical CenterTodd Sacktor, MD, SUNY Downstate Distinguished Professor of Physiology and Pharmacology, with Andre Fenton, PhD, Associate Professor of Physiology and Pharmacology (also now at New York University) Sacktor and his research team have determined that an enzyme molecule called “protein kinase M zeta” preserves memories through long-term strengthening of synaptic connections between neurons. By inhibiting the enzyme, scientists were able to erase a memory that had been stored for one day, or even one month. After the erasure, the animal models could relearn and then remember normally, indicating that the inhibitor did not damage the brain or permanently disrupt memory function. Subsequent research has shown that PKMzeta is fundamental for storing many different forms of memory. These findings may be useful for treatment of disorders characterized by the pathological over-strengthening of synaptic connections, such as neuropathic pain, phantom limb syndrome, and post-traumatic stress, and possibly even to lead to ability to selectively switch off memories of painful events. Conversely, the identification of the core molecular mechanism for memory storage may focus effort on the development of specific therapeutic agents that enhance memory persistence and prevent memory loss. Science magazine deemed Sacktor’s discovery one of the “Top 10 Science Breakthroughs of 2006.”
Institution: Columbia University College Of Physicians and SurgeonsBalbina Johnson, laboratory supervisor at Columbia University College of Physicians & Surgeons In 1943, Johnson cultured cells from the wound of a 7-year-old girl, Margaret Tracy, who had been taken to Presbyterian Hospital’s emergency room for treatment of a leg injury. Initial microscopic examination of the wound revealed that it was infected with the bacterium Staphylococcus aureas. Subsequent microscopic examination revealed that the Staph cells had disappeared overnight. Johnson discovered that another microbe in the sample, bacillus subtilis, had killed the Staph cells. She purified and concentrated the bacillus strain, leading to the development of a new antibiotic called Bacitracin (a combination of Bacillus and Tracy). The FDA approved Bacitracin in 1948. The topical ointment is widely used today, alone or in combination with other antibiotics.
The genetic error on chromosome 4 responsible for a rare birth defect known as Wolf-Hirschhorn syndrome.
Institution: New York University School of MedicineKurt Hirschhorn, MD, NYU School of Medicine graduate & professor, later professor of pediatrics at Icahn School of Medicine at Mount Sinai Wolf-Hirschhorn syndrome is a birth defect characterized by severe growth retardation, mental deficiency, facial and heart defects, and other malformations.
Creation of synthetic oxytocin
Institution: Weill Cornell MedicineVincent du Vigneaud, PhD, chairman of the Department of Biochemistry and a professor of biochemistry from 1968-1967, who won the Nobel Prize in Chemistry for his discovery. Dr. du Vigneaud created a synthetic form of oxytocin, a hormone that is involved in childbirth. Synthetic oxytocin is now regularly prescribed to induce or augment labor.
Uncovering the effects of DBS on brain networks in Parkinson’s disease
Institution: Albany Medical CollegeJulie Pilitsis Parkinson’s disease (PD) is the second most prevalent neurodegenerative disease affecting over10 million people worldwide. Although deep brain stimulation (DBS) has been used to treat PD for over 20 years, the mechanism of action is currently unclear. Advanced imaging options ana analysis of intraoperative neuronal recordings can offer insights on the physiological changes induced by DBS. Understanding these changes could provide the basis for a more personalized therapeutic approach.
Implantable cardioverter defibrillator improves survival in patients with heart failure
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterArthur J. Moss, M.D., Bradford C. Berk, M.D., Ph.D. Distinguished Professor of Cardiology, University of Rochester School of Medicine and Dentistry Moss led the MADIT (Multicenter Automatic Defibrillator Implantation Trial) series of trials that demonstrated that preventive therapy with an implantable cardioverter defibrillator or ICD – a device that detects potentially fatal arrhythmias and shocks the heart back into a normal rhythm – significantly reduces the risk of death in heart attack survivors. This finding changed medical guidelines nationwide and led to the use of ICDs in millions of patients.
The mechanisms in the biological synthesis of ribonucleic acid and deoxyribonucleic acid
Institution: New York University School of MedicineSevero Ochoa, MD, professor of biochemistry from 1942 to 1974 at NYU School of Medicine Synthesis of RNA and DNA has led to groundbreaking research in the field of genetics.
Discovery of SORL1 gene for late-onset Alzheimer’s disease
Institution: Columbia University College Of Physicians and SurgeonsRichard Mayeux, MD, Gertrude H. Sergievsky Professor of Neurology, Psychiatry, and Epidemiology, Chair of the Department of Neurology, and co-director of the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, Columbia University College of Physicians & Surgeons Mayeux led an international team of researchers that discovered a second gene (after ApoE4) implicated in late-onset Alzheimer’s disease. Certain variants of the gene, they discovered, interfere with normal function of SORL1, leading to increased production of toxic amyloid beta protein in the brain. His Alzheimer’s disease research earned him the Potamkin Award from the American Academy of Neurology (2007), the John M. Sterns Lifetime Achievement Award in Medicine from the New York Academy of Medicine (2008), and a Henry Wisniewski Lifetime Achievement Award in Alzheimer’s Disease Research (2009).
Identifying “longevity genes” in humans
Institution: Albert Einstein College of MedicineNir Barzilai, MD, director of the Institute for Aging Research, director of the Nathan Shock Center of Excellence in the Basic Biology of Aging, professor of medicine and of genetics at Albert Einstein College of Medicine The identification of longevity genes by Einstein researchers may lead to new drug therapies that could slow aging, which would significantly delay the onset of age-related diseases, such as Alzheimer’s disease, type 2 diabetes and cardiovascular disease. This would lead to fewer years of disability and disease and significantly reduce healthcare spending.
Hyaluronidases are a family of six enzymes discovered in the Human Genome and identified for the first time. This was accomplished in a coordinated approach using enzyme chemistry, cell biology, and bioinformatics
Institution: Touro College of Osteopathic MedicineRobert Stern, MD, Touro College of Osteopathic Medicine, Professor of Pathology in the Department of Basic Biomedical Sciences. These enzymes have a major impact in embryology, cancer progression, stem cell biology, disease diagnostics, wound healing, and in tissue repair and regeneration.
Co-transformation biotechnology technique
Institution: Columbia University College Of Physicians and SurgeonsRichard Axel, MD, University Professor of Biochemistry and Molecular Biophysics and Pathology and Cell Biology, and Saul Silverstein, PhD, professor of microbiology and immunology, Columbia University College of Physicians & Surgeons Axel and Silverstein, along with Michael Wigler, PhD (now at Cold Spring Harbor Laboratory), discovered a method of introducing genes into mammalian cells. They published their findings, in which they successfully transferred a herpes virus gene into mouse cells, in 1977. The technique, known as co-transformation, became invaluable for biomedical researchers and made it possible to use the transformed cells to make a wide range of biological molecules for use as pharmaceuticals. Co-transformation was patented in 1983. Several pharmaceutical companies have employed the technique to make dozens of new drugs, including tPA for blood clots, Humira for rheumatoid arthritis, Raptiva for psoriasis, and Herceptin for breast cancer.
Proteins involved in constructing neural circuits
Institution: Columbia University College Of Physicians and SurgeonsThomas Jessell, PhD, Columbia University College of Physicians & Surgeons Through a groundbreaking series of studies, Jessell identified many of the key cellular, molecular, and genetic mechanisms that control the neural development and organization of the spinal cord. He was the first to show that the Sonic hedgehog (Shh) protein determines the subtype and role of motor neurons in movement during early embryonic development. He has also been a pioneer in demonstrating how the Shh and other signaling pathways can be manipulated to direct the process by which stem cells mature into motor neurons, laying the groundwork for reconstructing neural circuits that have been damaged by trauma or neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS). In 2008, Jessell was the co-recipient of the first Kavli Prize for Neuroscience. In 2014, he was awarded the Vilcek Prize in Biomedical Science.
Institution: Columbia University College Of Physicians and SurgeonsAndre F. Cournand, MD, and Dickinson W. Richards, MD, Columbia University College of Physicians & Surgeons In 1929, German scientist Werner Forssmann threaded a catheter to his own heart through a vein in his arm. Cournand and Richards of Columbia had established a cardiopulmonary lab at Bellevue Hospital, where they pioneered the use of catheterization to diagnose heart and lung diseases. In the years that followed, Cournand and Richards perfected this work, winning them, along with Forssmann, the Nobel Prize in Physiology or Medicine in 1956. Catheterization has become a mainstay of diagnostic and therapeutic care for patients with heart and lung conditions.
Led research that developed Tc99m-MDP, a short-lived radioactive material that is injected into a vein and absorbed by the bones. The bone metabolizes the agent and shows high- and low-concentrations of it, indicating tumors or lesions in the bone.
Institution: SUNY Upstate Medical UniversityJohn McAfee, MD, Department of Radiology, Upstate Medical University; Gopal Subramanian, PhD, Department of Radiology, Upstate Medical University Tc99m-MDP proved better than other imaging agents because it moves quickly from blood to bones, stays long enough for the nuclear medicine staff to get good images, and leaves the body quickly through the urinary tract, reducing the patient’s exposure to radiation. Tc99m-MDP bone scans remain an imaging option available today.
Virus-like particles used in the human papillomavirus (HPV) vaccine
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterWilliam Bonnez, M.D., Richard Reichman, M.D., Robert C. Rose, Ph.D., University of Rochester School of Medicine and Dentistry The HPV vaccine protects against the precursors of most cervical, vulvar, vaginal and anal cancers, and is also expected to offer protection against some penile and oropharyngeal cancers. Bonnez, Reichman and Rose were the first to produce HPV virus-like particles, a harmless mimic of the infectious virus with no risk of infection, and to demonstrate that they provoke a protective immune response against HPV.
Implantable left ventricular assist device for end-stage heart failure
Institution: Columbia University College Of Physicians and SurgeonsEric Rose, MD, Columbia University College of Physicians & Surgeons Rose and colleagues from Columbia University Medical Center led the Randomized Evaluation of Mechanical Assistance for the Treatment of Congestive Heart Failure (REMATCH) study group to study the feasibility of using an implantable left ventricular assist device (LVAD) to provide long-term circulatory support for patients with end-stage heart failure who were ineligible for surgery. Results of the study, published in New England Journal of Medicine, revealed that an implantable device (HeartMate) was associated with significant improvements in survival and quality of life compared with medical therapy alone.
New generation of drugs transform Parkinson’s care
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterUniversity of Rochester School of Medicine and Dentistry researchers Karl Kieburtz, M.D., M.P.H. and Ira Shoulson, M.D. The University of Rochester Clinical Trials Coordination Center (CTCC) and the Parkinson’s Study Group (PSG) were founded by UR neurologists to create the infrastructure and national networks necessary conduct multi-site clinical trials for Parkinson’s disease. Since their inception 30 years ago, the two organizations have partnered with numerous pharmaceutical companies and the National Institutes of Health (NIH) to bring new drugs for Parkinson’s disease to the market including pramipexole, entacapone, rotigotine and rasagiline. These drugs have helped transform this once deadly disease into essentially a manageable chronic illness.
Partial Liquid Ventilation for critically ill newborns
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloBradley Fuhrman, MD, University at Buffalo Jacobs School of Medicine and Biomedical Sciences professor of pediatrics and anesthesia and chief of pediatric critical care at Women and Children’s Hospital of Buffalo, in conjunction with pediatric critical care doctors at UB. Prior to the development of Partial Liquid Ventilation (PLV), conventional therapy involved increasing the pressure and oxygen concentration inside a baby’s lungs in an effort to force more oxygen into the bloodstream. This sometimes caused permanent lung damage and resulted in a chronic disease called bronchopulmonary dysplasia. PLV introduces an oxygen-rich liquid called perflubron into the baby’s lungs. The liquid allows the lungs to inflate with less pressure than air, and permits oxygen and carbon dioxide to pass through the air sacs and into the bloodstream more easily and efficiently.
Self-renewing hematopoietic stem cells for transplantation created
Institution: Weill Cornell MedicineShahin Rafii, MD, professor of medicine, and Joseph Scandura, associate professor of medicine, Weill Cornell Medicine Researchers at Weill Cornell Medicine have discovered an innovative method to make an unlimited supply of healthy blood cells from the readily available cells that line blood vessels. This achievement marks the first time that any research group has generated such blood-forming stem cells.
Xiaflex, a non-surgical treatment for the chronic hand condition Dupuytren’s contracture
Institution: Stony Brook University School of MedicineLawrence Hurst, MD, and Marie Badalamente, PhD, in the Department of Orthopaedics at Stony Brook Medicine Dupuytren’s contracture is a disorder in which excess collagen accumulation in the palm and fingers causes thick, inflexible cords to form, triggering a progressive and permanent curling up of the fingers. Historically, the standard of care has been surgery to cut the cords. But thanks to the investigational research by Drs. Badalamente and Hurst, Xiaflex, a non-surgical treatment received FDA approval.
Numerous factors that make up the transcription machinery in human cells and characterized their activity
Institution: New York University School of MedicineDanny PhD, Reinberg, NYU School of Medicine The cellular machinery discovered performs the first of two steps in converting genes into the proteins that perform the tasks necessary for nearly all cellular functions.
Key research in the field of neuronal plasticity
Institution: New York University School of MedicineRichard Tsien, PhD, NYU Dr. Tsien’s recent fundamental discoveries at NYU Langone have opened up new possibilities for understanding and treating many neuropsychiatric disorders, such as autism spectrum disorder, schizophrenia, ADHA, epilepsy, Timothy syndrome, pain, ataxia and migraine.
Pioneering research on HIV, the biology of T-cells and the immune system’s interactions with the microbiome.
Institution: New York University School of MedicineDan Littman, MD, NYU School of Medicine Dr. Littman’s discoveries encompass numerous mechanisms used by HIV to infect cells, as well as understanding fundamental processes in autoimmunity that can be targeted for the development of novel therapeutics.
How asbestos can cause cancerous changes in the DNA of cells
Institution: Icahn School of Medicine at Mount SinaiIrving Selikoff, MD, Jacob Churg, MD, and E. Cuyler Hammond, MD, Icahn School of Medicine at Mount Sinai Asbestos has been classified as a known human carcinogen (a substance that causes cancer) by the U.S. Department of Health and Human Services, the EPA, and the International Agency for Research on Cancer. Studies have shown that exposure to asbestos may increase the risk of lung cancer and mesothelioma (a rare cancer of the thin membranes that line the chest and abdomen). Although rare, mesothelioma is the most common form of cancer associated with asbestos exposure. Some studies have also suggested an association between asbestos exposure and gastrointestinal and colorectal cancers, as well as an elevated risk for cancers of the throat, kidney, esophagus and gallbladder.
Development of deep brain stimulation methods to treat minimally conscious brain-injured patients
Institution: Weill Cornell Medicine, NewYork-PresbyterianNicholas Schiff, MD, the Jerold B. Katz Professor of Neurology and Neuroscience, and Joseph Fins, MD, the E. Williams Davis, Jr., MD Professor of Medical Ethics, Weill Cornell Medicine A breakthrough study published in Naturereported that a 38-year-old man who spent more than five years in a minimally conscious state as a result of a severe head injury was able to communicate regularly with family members and recovered his ability to move after having his brain stimulated with pulses of electric current. The findings provide the first rigorous evidence that a procedure could initiate and sustain recovery in such a severely disabled person, years after the injury occurred.
Haemophilus Influenzae Type b (Hib) Vaccine
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterDavid H. Smith, M.D. (deceased), Porter W. Anderson, Ph.D., University of Rochester School of Medicine and Dentistry Before the Hib vaccine was available, Hib disease was the leading cause of bacterial meningitis among children under 5 years old in the U.S. Hib disease can also cause pneumonia; severe swelling in the throat; infections of the blood, joints, bones, and covering of the heart; and death. Since the vaccine was introduced, bacterial meningitis has been reduced by about 98 percent.
Glucocorticoid receptor deletion from locus coeruleus norepinephrine neurons promotes depression-like social withdrawal in female but not male mice
Institution: Albany Medical CollegeLauren Jacobson, Department of Neuroscience and Experimental Therapeutics This study shows that glucocorticoid receptors in locus coeruleus norepinephrine neurons prevent depression-like behavior in female but not male mice. In combination with observations that the locus coeruleus is more strongly activated by emotional cues in women, and findings that women are more likely to suffer from depression in which glucocorticoid secretion may be lower than normal, these results also suggest that locus coeruleus glucocorticoid receptors, or downstream molecules may be targets to treat depression, particularly in women.
Noninflammatory changes of microglia are sufficient to cause epilepsy
Institution: Albany Medical CollegeYunfei Huang, MD, PhD. Professor of Department of Neuroscience and Experimental Therapeutics Microglia are thought to be immune cells in the brain. It has long been postulated that excessive inflammatory response of microglia is the cause of epilepsy. However, my laboratory recently discovered that non-inflammatory changes in microglia causes severe seizures in our mouse model. Our finding points to a novel research direction toward better understanding how epilepsy occurs and how we develop new therapeutics for epilepsy. *This work was recently highlighted in F1000Prime recommended By Long-Jun Wu and Ukpong B Eyo
Reconstruction of the pathogenicity of the extinct but deadly 1918 pandemic influenza virus
Institution: Icahn School of Medicine at Mount SinaiAdolfo García-Sastre, PhD, Christopher Basler, PhD, and Peter Palese, PhD, Icahn School of Medicine at Mount Sinai The study led to a fuller understanding of other strains including the 2009 H1N1 virus.
High-dose anticholinergic therapy for torsion dystonia
Institution: Columbia University College Of Physicians and SurgeonsRobert E. Burke, MD, the Alfred and Minnie Bressler Professor of Neurology, and Stanley Fahn, MD, the H. Houston Merritt Professor of Neurology at Columbia University College of Physicians & Surgeons Torsion dystonia is a movement disorder that causes sustained, twisting involuntary movements. A severe form in children causes incapacitating, generalized muscle spasms. Before the use of high-dose trihexyphenidyl, there was no established therapy for the condition. Burke, Fahn, and colleagues led a clinical trial demonstrating that high-dosage anticholinergic therapy with trihexyphenidyl produced significant, sustained benefit for most patients. Anticholinergics remain a mainstay of treatment of this condition.
An artificial retina with the capacity to restore normal vision
Institution: Weill Cornell MedicineSheila Nirenberg, PhD, Professor of Computational Neuroscience in Computational Biomedicine at Weill Cornell Medicine Researchers have developed an experimental, next-generation artificial retina that may help restore sight to patients with advanced-stage blindness.
A substance known as the “transfer factor,” which could enhance the body’s defenses against a wide variety of infectious agents.
Institution: New York University School of MedicineH. Sherwood Lawrence, MD, director of NYU Langone’s Cancer Center from 1974 to 1979, and director of its AIDS Research Center from 1989 to 1994 The “transfer factor” ’is a product of T-lymphocytes. When transferred from immune to non-immune animals, it can enhance the body’s immune system. Dr. Lawrence also identified a link between the way cells respond immunologically to microbes like the bacterium that causes tuberculosis, and conducted research on the immune responses involved in the rejection of transplanted organs.
Oracea, to treat inflammatory lesions on skin due to rosacea/skin conditions
Institution: Stony Brook University School of MedicineLorne Golub, DMD, MSc, of the Department of Oral Biology and Pathology at Stony Brook Medicine Rosacea affects an estimated 16 million Americans. Dr. Golub was the principal investigator of the research leading to the development of Oracea. The drug delivers a dose of doxycycline that is not strong enough to kill bacteria, but that will reduce lesions and inflammation.
Third edition of the Diagnostic Statistical Manual (DSM III), a clinical guide to diagnosing psychiatric disorders
Institution: Columbia University College Of Physicians and SurgeonsRobert Spitzer, MD, professor of psychiatry at Columbia University College of Physicians & Surgeons Spitzer’s work transformed the diagnosis of mental health conditions from a psychoanalytic-based approach to a rigorous, systematic assessment using specific diagnostic criteria. In 1968, he co-developed a computer program that used scores from the Psychiatric Status Schedule to identify a diagnosis. He went on to co-develop the Mood Disorder Questionnaire, a screening tool for bipolar disorder, and a self-administered tool called the Patient Health Questionnaire, which is commonly used to identify signs of depression and other mental illnesses. In 1974, Spitzer became chair of the American Psychiatric Association’s task force to develop the DSM III. Released in 1980, DSM III was the first guide to classify mental disorders according to well-defined diagnostic criteria. Notably, the guide replaced homosexuality, which had been listed in previous manuals as a mental health disorder, with “sexual orientation disturbance,” a condition in which people have distress because of their sexual orientation.
Rh immune globulin vaccine
Institution: Columbia University College Of Physicians and SurgeonsVincent J. Freda, MD, and John Gorman, MD, Columbia University College of Physicians & Surgeons Scientists had previously established that the cause of hemolytic disease in newborns—an often-fatal condition—occurs when a mother who is Rh-negative (meaning her blood does not contain the Rh antigen) develops antibodies to her baby’s Rh-positive blood. Any mixing of blood that may occur during delivery can result in destruction of the baby’s blood cells. The production of these antibodies increases with subsequent pregnancies. Freda and Gorman began to develop a vaccine that contained Rh immune globulin, allowing the immune system to recognize the Rh factor without attacking it. Giving the vaccine to Rh-negative pregnant women within 72 hours of delivery, they showed, prevented their newborns from developing hemolytic disease. Widespread use of the vaccine, which is now given to Rh-negative pregnant mothers at 32 weeks and again within 72 hours of delivery, has nearly eliminated the disease in newborns. In 1980, Freda and Gorman earned the Albert Lasker Clinical Medical Research Award for their work.
Nonsense-Mediated mRNA Decay (NMD)
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterLynne E. Maquat, Ph.D., J. Lowell Orbison Endowed Chair and Professor, Department of Biochemistry & Biophysics, University of Rochester School of Medicine and Dentistry; Director, Center for RNA Biology, University of Rochester Nonsense-mediated mRNA decay, also called NMD, is the body’s way of proofreading mRNAs, which take genetic instructions from DNA and use them to create proteins that carry out our body’s functions. Sometimes mRNAs are faulty and, if left intact, would lead to the creation of toxic proteins that cause disease. Nonsense-mediated mRNA decay is like an inspector who examines products coming off an assembly line and removes broken or damaged goods. By destroying flawed mRNAs, nonsense-mediated mRNA decay ensures that normal, healthy proteins are created. NMD is critically important in both normal and disease states and is leading to new therapeutic approaches for virtually all disease processes, from cancer, to heart disease, to neurologic disorders.
Different types of atherosclerosis plaques are classified for the first time.
Institution: Icahn School of Medicine at Mount SinaiValentin Fuster, MD, PhD, Icahn School of Medicine at Mount Sinai The classifications are adopted by The American Heart Association (AHA).
The first use of cholinesterase inhibitors to treat Alzheimer's disease and improve cognition
Institution: Icahn School of Medicine at Mount SinaiKenneth L. Davis, MD, President and CEO of Mount Sinai Health System Alzheimer’s disease is an irreversible, progressive brain disorder that slowly destroys memory and thinking skills, and eventually the ability to carry out the simplest tasks. In most people with Alzheimer’s, symptoms first appear in their mid-60s. Estimates vary, but experts suggest that more than 5 million Americans may have Alzheimer’s. Alzheimer’s disease is currently ranked as the sixth leading cause of death in the United States, but recent estimates indicate that the disorder may rank third, just behind heart disease and cancer, as a cause of death for older people. Cholinesterase inhibitors treat Alzheimers disease by preventing the breakdown of acetylcholine, a chemical messenger important for learning and memory.
Institution: SUNY Downstate Medical CenterAlexander Johnston Chalmers Skene, Professor of Diseases of Women and Clinical Obstetrics (1870 – 1899), Dean of Faculty (1886 -1893); President of Long Island College Hospital (Downstate’s predecessor institution) (1893-1899). A founder of the American Gynecological Society (1886-1887). Skene was the first to describe “Skene’s glands” (also known as the lesser vestibular glands, periurethral glands, or para-urethral glands) which are located on the anterior wall of the vagina, around the lower end of the urethra. They drain into the urethra and near the urethral opening and may be near or a part of the G-spot. These glands are surrounded with tissue (which includes the part of the clitoris) that reaches up inside the vagina and swells with blood during sexual arousal. If infected, the glands can become inflamed, a condition referred to as “skenitis.” Skene wrote more than 200 scholarly articles on surgical, gynecological and obstetrical subjects and five textbooks. A bust dedicated to his memory stands in Brooklyn’s Grand Army Plaza.
High fat diet is more deleterious in middle-aged females than males
Institution: Albany Medical CollegeKristen Zuloaga, PhD, Assistant Professor Department of Neuroscience & Experimental Therapeutics at Albany Medical College High fat diet is commonly used to model obesity and prediabetes in mice. Prior work had shown that young female mice are generally protected from the detrimental metabolic effects of high fat diet relative to young males. However, how these effects change with age had never been examined. Zuloaga and colleagues demonstrated (International Journal of Obesity) that if the high fat diet is initiated in middle-age, when females are perimenopausal, that this sex difference is reversed and females have greater metabolic impairment compared to males. This work made a critical contribution to the field by highlighting sex and age as key biological variables in metabolic disease research.
Low scores on a cancer-recurrence gene test may allow breast cancer patients to skip chemotherapy
Institution: Albert Einstein College of MedicineJoseph A. Sparano, MD, professor of medicine and of obstetrics and gynecology and women’s health at Albert Einstein College of Medicine, vice chairman of medical oncology at Montefiore Einstein Center for Cancer Care The study illustrates how genetic information is transforming cancer care and could change the way breast cancer is currently treated.
Institution: Stony Brook University School of MedicineArie Kaufman, PhD, of the Department of Computer Science at Stony Brook Medicine Colorectal cancer is a leading cause of cancer-related deaths worldwide that claims about 677,000 men and women annually, according to the World Health Organization. However, studies show that much more than half of all Americans 50 and older aren’t getting colonoscopies, possibly because the procedure is scary. A conventional colonoscopy using a fiber optic endoscope is invasive and expensive, and requires a day of preparation involving harsh laxatives and usually a day for the procedure since the patient must be sedated. A conventional colonoscopy also carries the risk of perforation of the colon wall and even a small risk of death. The virtual colonoscopy is far less invasive and expensive. This innovative computer graphics technology puts computed tomography (CT) images of the patient’s abdomen together into a high quality 3-D computerized model of the patient’s colon. This allows a radiologist to virtually “fly through” the patient’s colon, from beginning to end, and around all folds, seeing 100 percent of its surface as opposed to the estimated 77 percent with conventional colonoscopy, and thoroughly searching for polyps, the precursors of colon cancer, which are often as small as a few millimeters.
A new approach to treating disease by stimulating nerves, called bioelectronic medicine
Institution: Hofstra Northwell School of Medicine at Hofstra UniversityFeinstein Institute President Kevin J. Tracey, MD, at Hofstra Northwell School of Medicine Bioelectronic medicine is a science that works to comprehend normal body functioning and disease pathogenesis of neural circuits at the anatomical and signaling level, in order to apply this research to disease diagnosis, treatment and prevention.
A new DNA sequencing method, called Maximum Depth Sequencing (MDS)
Institution: New York University School of MedicineEvgeny A. Nudler, PhD, NYU School of Medicine The MDS method eliminates the error introduced by core methods behind current high-speed DNA sequencing machine. MDS is a new high-throughput DNA sequencing method that is ultra-sensitive and can detect rare sequence variants in genomic DNA. This new method enables the detection of extremely rare mutations that occur in bacteria, which is important for understanding basic evolutionary processes and of potential value in various clinical settings, such uncovering bacterial mechaisms that lead to the development of antibiotic resistance. Pubmed citation: Rates and mechanisms of bacterial mutagenesis from maximum-depth sequencing. Jee J, Rasouly A, Shamovsky I, Akivis Y, Steinman SR, Mishra B, Nudler E. Nature. 2016 Jun 30;534(7609):693-6. PMID: 27338792
Institution: Columbia University College Of Physicians and SurgeonsRiccardo Dalla-Favera, MD, the Percy and Joanne Uris Professor of Clinical Medicine and professor of pathology and cell biology, genetics and development, and microbiology and immunology, Columbia University College of Physicians & Surgeons In 1994, Dalla-Favera discovered this oncogene, a transcription factor that is involved in diffuse large B-cell lymphoma (DLBL), the most common type of non-Hodgkin lymphoma. Subsequently, Dalla-Favera and his team developed a mouse model containing a BCL6 mutation, showing the role of the gene in the pathogenesis of DLBL. The mouse model may be instrumental in developing new therapies for the disease.
Huntington’s disease gene
Institution: Columbia University College Of Physicians and SurgeonsNancy Wexler, PhD, Higgins Professor of Neuropsychology, Columbia University College of Physicians & Surgeons This discovery was the result of Wexler’s work with the Venezuela Collaborative Huntington’s Disease Project, which studied families in two Venezuelan villages with an unusually high incidence of the disease. Wexler’s work was inspired by her mother, a geneticist who had been diagnosed with Huntington’s disease (despite the fact that it was believed to only affect men). Analysis of more than 4,000 blood samples led Wexler and colleagues to identify the HTT gene and its location on chromosome 4. It was the first disease-associated gene to be mapped to a chromosome using recombinant DNA techniques. In 1993, Wexler received the Albert Lasker Public Service award for her work.
Dual Radiation Targeting System to improve surgical accuracy and lower radiation exposure
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloMichael K. Landi, MD, while he was a medical student at University at Buffalo Jacobs School of Medicine and Biomedical Sciences, and Robert Lifeso, MD, clinical professor of orthopedics DRTS™ Platform (Dual Radiation Targeting System) is a laser targeting system that improves surgical accuracy, decreases patient discomfort, reduces time in the operating room, and lowers radiation exposure for operating room personnel and patients. Originally designed for use in the orthopedic field, the innovative system has broad applications across many other specialties, including oncology and neurology. For example, it is ideal for performing minimally invasive deep-tissue biopsies done on breasts, livers or spleens.
Kaposi’s sarcoma-associated herpesvirus (KSHV), or HHV8
Institution: Columbia University College Of Physicians and SurgeonsYuan Chang, MD, and Patrick Moore, MD, Columbia University College of Physicians & Surgeons Chang and Moore discovered the herpesvirus that is associated with Kaposi’s sarcoma and a type of lymphoma in people with AIDS. Before this discovery, scientists had speculated that an infection was the source of some AIDS-associated cancers.
Creation of a prototype vaccine against tuberculosis that works better in animal models than the current TB vaccine
Institution: Albert Einstein College of MedicineWilliam Jacobs, Jr., PhD, professor of microbiology & immunology and genetics at Albert Einstein College of Medicine, and Howard Hughes Medical Institute investigator Tuberculosis (TB) is caused by a bacterium called Mycobacterium tuberculosis. The bacteria usually attack the lungs, but TB bacteria can attack any part of the body such as the kidney, spine and brain. If not treated properly, TB disease can be fatal. The prototype vaccine stems from genetic manipulation of the bacterium.
Computer-Assisted Total Knee Replacement
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloKenneth Krackow, MD, University at Buffalo Jacobs School of Medicine and Biomedical Sciences professor of orthopedic surgery Total knee replacement procedures have been performed since the 1960s, but surgeons were dissatisfied with the prosthetics’ variable life span, which primarily depended on two factors: the wear and tear on the knee and the replacement components’ fit, which was based on the “naked eye.” The new system is more accurate. It enables surgeons to make precise decisions on the alignment and orientation of instruments, the location and depth of bone cuts and the placement of knee implant components. The procedure is now used worldwide.
Neuromodulation in Parkinson’s disease and Epilepsy
Institution: Albany Medical CollegeDamian Shin, MSc PhD The Department of Neuroscience and Experimental Therapies at Albany Medical College Shin has investigated various aspects of deep brain stimulation (DBS) for Parkinson’s disease (PD) andepilepsy spanning topics from elucidating its underlying mechanism(s) to identifying novel DBS targets. Specifically, he reported that extracellular ion homeostasis is altered with DBS which could contribute to DBS therapeutic efficacy by affecting neural activity; DBS can engage parallel motor circuits to improve PD symptomology; stimulating a brain area called the substantia nigra reticulata improved motor function in PD and DBS dampened painful mechanical and thermal sensations by activating a top-down control of pain mechanism in PD. For epilepsy, Shin showed that electrically stimulating a brain area called the ventral pallidum could prevent partial and generalized seizures. With electrophysiological recordings, he found that ventral pallidum DBS increased inhibitory signaling from the ventral pallidum to connected brain structures in the forebrain, midbrain and brainstem for seizure control.
PKU Test for infants to detect phenylketonuria, a genetic disorder that can cause severe mental retardation
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloRobert Guthrie, MD, PhD, University at Buffalo Jacobs School of Medicine and Biomedical Sciences professor of microbiology and pediatrics Phenylketonuria (PKU) is a genetic disorder characterized by an inability of the body to break down the amino acid phenylalanine. Recognizing that the earlier treatment begins for PKU, the better the prognosis for intellectual growth, Guthrie developed a way to collect discs of whole blood from infants: sticking the baby’s heel and blotting the emerging drops of blood with filter paper. Hospitals were able to quickly and inexpensively implement PKU screening on a large scale, and in time, the filter test—which is estimated to have spared 300,000 children from the effects of mental disabilities—came to be used by all 50 states to screen for PKU. Furthermore, Guthrie’s dried-blood spot testing method spread to almost every field involving blood collection and has made possible the multiple newborn screening routinely conducted today.
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloWilson Greatbatch, University at Buffalo Jacobs School of Medicine and Biomedical Sciences adjunct professor of engineering Greatbatch created the first successful implantable pulse generator—and the lithium battery used to extend its longevity. His device has improved and saved the lives of millions of people with heart disease worldwide. That’s why the National Society of Professional Engineers named it one of the 10 greatest engineering contributions to society of the last 50 years.
Vasopressin for treatment of septic (vasodilatory) shock
Institution: Columbia University College Of Physicians and SurgeonsDonald W. Landry, MD, PhD, the Samuel Bard Professor and Chair of the Department of Medicine, and Juan A. Oliver, MD, Columbia University College of Physicians & Surgeons While evaluating a woman with kidney failure and septic shock, Landry noticed that discontinuation of the hormone vasopressin, which had been given to stop esophageal bleeding, resulted in a sudden decrease in blood pressure. The medication, which is an anti-diuretic hormone, was not known to have an effect on blood pressure. But when the medication was administered again, the patient’s blood pressure increased. This observation led Landry and Oliver to explore the pathophysiology of vasodilatory shock, which can cause a life-threatening drop in blood pressure. They discovered that the condition triggers a vasopressin deficiency, which leads to a severe decrease in blood pressure. The deficiency can be countered by giving a very low dose of the drug. Vasopressin is now routinely used to increase blood pressure in patients with septic shock and vasodilatory shock after cardiopulmonary bypass.
Combining two emerging fields: 3D printing and tissue engineering
Institution: Hofstra Northwell School of Medicine at Hofstra UniversityTodd Goldstein, PhD, Hofstra Northwell School of Medicine and investigator at the Feinstein Institute for Medical Research has been instrumental in spearheading this project. Potential to revolutionize and personalize many standard treatments. In particular, it can create cartilage designed to repair damage to the trachea.
Identified cause and progression of chronic obstructive pulmonary disease (COPD)
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloTimothy Murphy, MD, and Sanjay Sethi, MD, professors of medicine and microbiology and immunology at University at Buffalo Jacobs School of Medicine and Biomedical Sciences The discovery that COPD flare-ups are due to new strains of bacteria that COPD patients continuously acquire has led the two researchers to develop promising vaccine candidates for pathogens involved in the disease. Today they continue to lead the longest-running clinical investigation of COPD in the United States.
Liver diet as a cure for pernicious anemia
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterUniversity of Rochester School of Medicine pathologist George Whipple, M.D., (deceased), University of Rochester pathologist Frieda Robscheit-Robbins, Ph.D., (deceased), and Harvard University physicians George Richards Minot, M.D. (1885-1950) and William Parry Murphy, M.D. (deceased) Pernicious anemia, a disease in which not enough red blood cells are present due to a lack of vitamin B12, was a fatal disease around the world up until 1926, when Whipple and his research partners proved that a daily dose of a half a pound of beef liver, or raw liver juice, could control the disease. Chemists later developed a concentrated liver juice, followed by a much more powerful injectable liver extract that reduced the cost of treatment. Whipple, Murphy and Minot shared the Nobel Prize in 1934 for their work, which ultimately led to the discovery and synthesis of vitamin B12 (cobalamin), and officially took pernicious anemia off the list of deadly medical problems.
Small molecule synthetic peptide leptin mimetics cross the blood-brain barrier and improve energy balance, glycemic control, and cognitive function in mouse models of obesity and diabetes
Institution: Albany Medical CollegePatricia Grasso, Ph.D., Professor Department of Medicine/Department of Neuroscience & Experimental Therapeutics The link between obesity, diabetes, and cognitive dysfunction is firmly established. Our small molecule synthetic peptide leptin mimetics have proven to be effective in regulating energy balance and glycemic control in genetically obese and diet-induced obese (DIO) mouse models. Current studies indicate that these mimetics may also be useful in slowing or preventing the progression of neurological dysfunction associated with insulin resistance in the brain.
The first kidney dialysis in the United States
Institution: Icahn School of Medicine at Mount SinaiAlfred P. Fishman, MD, Irving G. Kroop, MD, and H. Evans Leiter, MD, Icahn School of Medicine at Mount Sinai When kidneys fail, dialysis keeps the body in balance by removing waste, salt and extra water to prevent them from building up in the body. The process maintains a safe level of certain chemicals in the blood, such as potassium, sodium and bicarbonate, helping to control blood pressure. More than 661,000 Americans have kidney failure. Of these, 468,000 individuals are on dialysis.
Link between a child’s abnormal breathing during sleep with behavioral, emotional and relationship troubles
Institution: Albert Einstein College of MedicineKaren Bonuck, PhD, professor of family and social medicine,of obstetrics & gynecology and women’s health, and of pediatrics at Albert Einstein College of Medicine This is the strongest evidence to date that snoring, mouth breathing and apnea (abnormally long pauses in breathing during sleep) can have serious behavioral and social-emotional consequences for children. Sleep disordered breathing (SDB) causes (reduced oxygen and increased carbon dioxide), interferes with sleep’s restorative processes, and disrupts cellular and chemical balances— which together affect the prefrontal cortex. The prefrontal cortex governs executive functioning (i.e., being able to pay attention, plan ahead and organize), the ability to suppress behavior, and the ability to self-regulate emotion and arousal.
Evaluation of transcatheter aortic valve replacement (TAVR) versus open heart surgery
Institution: Columbia University College Of Physicians and SurgeonsCraig Smith, MD, Chair of the Department of Surgery, and Martin Leon, MD, professor of medicine, Columbia University College of Physicians & Surgeons Smith and Leon were co-lead investigators of a series of clinical trials (Placement of AoRTic TraNscatherER valves, or PARTNER) to evaluate the safety and efficacy of a minimally invasive approach to aortic valve replacement, known as TAVR. In PARTNER I, the researchers showed that TAVR was a safe and effective therapy for patients with severe narrowing of the aortic artery who are not candidates for surgery, or are at high risk for surgical complications. PARTNER II extended these benefits to patients with intermediate risk for surgical complications. Both studies were published in New England Journal of Medicine.
Infasurf: Lifesaving Treatment for Premature Babies
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloUniversity at Buffalo Jacobs School of Medicine and Biomedical Sciences researchers Edmund A. Egan, MD, and Bruce A. Holm, PhD Since 1999, nearly 500,000 premature infants have been rescued with Infasurf, a replacement for a fluid that reduces surface tension in the lungs, which premature lungs cannot produce in sufficient quantity. Infasurf decreases the incidence of Respiratory Distress Syndrome (RDS) and associated mortality. An adult form of the drug, Pneumasurf, is currently in phase three clinical trials. Pneumasurf is targeted at patients requiring mechanical ventilators as a result of direct acute respiratory distress syndrome, which affects some 100,000 Americans annually and has a 35 percent mortality rate.
Finding that the molecule called c-Abl, which has a known role in leukemia, also has a hand in Alzheimer’s disease
Institution: Hofstra Northwell School of Medicine at Hofstra UniversityPeter Davies, PhD, and his colleagues at Hofstra Northwell School of Medicine The finding offers a new target for drug development that could stave off the pathological disease process.
Institution: Stony Brook University School of MedicineResearch by Paul Lauterbur, PhD, while at Stony Brook Medicine led to this groundbreaking invention. Dr. Lauterbur shared the Nobel Prize for this discovery in 2003, while a faculty member at University of Illinois. Health care professionals use magnetic resonance imaging (MRI) scans to diagnose a variety of conditions, from torn ligaments to tumors. MRIs are very useful for examining the brain and spinal cord.
Traffic Light Diet to counteract childhood obesity
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloLeonard Epstein, PhD, chief of the division of behavioral medicine in the Department of Pediatrics at University at Buffalo Jacobs School of Medicine and Biomedical Sciences We all know what the colors on a traffic light stand for—and that tri-color palette creates an easy-to-follow diet for overweight children. Known as the Traffic Light diet, it divides foods by the colors of a traffic signal: green for low-calorie foods that can be eaten freely; yellow for moderate-calorie foods that can be eaten occasionally; and red for high-calorie foods that should be eaten rarely. Since it was launched, pediatricians have widely used the Traffic Light Diet to encourage healthy eating habits among their patients. The key to the diet is parental involvement.
Slow walking speed plus memory complaints are predictors of dementia
Institution: Albert Einstein College of MedicineJoe Verghese, MBBS, professor in the Saul R. Korey Department of Neurology and of medicine at Albert Einstein College of Medicine, chief of geriatrics at Albert Einstein College of Medicine and Montefiore Health System The U.S. Centers for Disease Control and Prevention estimates that up to 5.3 million Americans—about 1 in 9 people age 65 and over—have Alzheimer’s disease, the most common type of dementia. That number is expected to more than double by 2050 due to population aging. A simple, new assessment method diagnoses motoric cognitive risk syndrome (MCR), a predictor of Alzheimer’s. Testing for the newly described syndrome only requires a stopwatch and a few questions, so primary care physicians could easily incorporate it into examinations of their older patients. It could enable many more people to learn if they’re at risk for dementia, since it avoids the need for complex testing and doesn’t require that the test be administered by a neurologist. The potential payoff could be tremendous—not only for individuals and their families, but also in terms of healthcare savings for society.
Evaluation of minimally invasive mitral valve repair procedure
Institution: Columbia University College Of Physicians and SurgeonsNicholas Dang, MD, and Gregg Stone, MD, Columbia University College of Physicians & Surgeons Surgical repair of the mitral valve has been the standard of care for patients with mitral valve regurgitation (leakage). Dang and colleagues led the Endovascular Valve Edge-to-Edge Repair Study (EVEREST), the first clinical trial to evaluate the safety and efficacy of a minimally invasive alternative to surgery using the MitraClip System (Abbott). In 2013, the FDA approved MitraClip for patients with degenerative mitral regurgitation (a condition caused by an abnormality in the mitral valve) who are not candidates for surgery. Stone is the lead investigator of a more recent study, Cardiovascular Outcomes Assessment of the MitraClip Percutanteous Therapy (COAPT) for Heart Failure Patients with Functional Mitral Regurgitation. This study is looking at the benefit of MitraClip for high-risk patients with mitral regurgitation due to enlargement of the left ventricle.
First widely used vaccine against bacterial pneumonia (PPSV23).
Institution: SUNY Downstate Medical CenterGerald Schiffman, PhD, Distinguished Service Professor Emeritus of Microbiology and Immunology. Although two vaccines against bacterial pneumonia became available in the 1940s, they were withdrawn from the market because most physicians preferred treating the disease with penicillin. Physicians at that time mistakenly believed that the antibiotic would all but eliminate the threat of pneumonia, and the manufacturer withdrew the vaccine. Schiffman demonstrated severe limitations in treating pneumococcal infections with antibiotic therapy, and, with Robert Austrian, introduced a new vaccine in 1978. Large-scale testing during the following decade confirmed its efficacy. However, it was not until the 1990s, with the increasing pneumococcal resistance to multiple antibiotics, that pneumococcal vaccination was widely accepted. It has since become the established standard of care for the elderly, for persons with diabetes and kidney-disease, patients with weakened immune systems, and those who have received a transplanted organ or undergone a splenectomy. Schiffman also developed a test to measure a wide range of immune system functions and disorders. First employed with geriatric and sickle-cell patients, the test was later used to evaluate immune system response to treatment in patients with HIV/AIDS and other disorders. His was the only laboratory to use this assay, and each year, about 100,000 samples from around the world were sent to him for analysis.
1) First to correlate firing of neuronal cells to specific behaviors; 2) Head-direction cells, part of the neural basis of navigation and spatial behavior in animals.
Institution: SUNY Downstate Medical CenterJames B. Ranck, Jr., MD, SUNY Distinguished Teaching Professor Emeritus of Physiology and Pharmacology Dr. Ranck is a biophysicist who specializes in the physics of current flow in brain tissue. He was one of the pioneers in recording electrical transmissions from single neurons in awake, behaving animals (rats). His research provided basic data for studies that employed electrical stimulation of the central nervous system. His 1973 paper in the journal Experimental Neurology is considered seminal and a standard for behavioral electrophysiology, in that it was the first to correlate firing of neuronal cells to specific behaviors, in live time. Additionally, he collaborated with scientists at other institutions who discovered two other cell groups: John O’Keefe, PhD, of University College London, who discovered place cells in 1971 and Edvard Moser, PhD and May-Britt Moser, PhD, both from the Kavli Institute in Norway, who discovered grid cells in 2005. This triad of cells (head-direction, grid, and place) are critical to navigation – how does the brain know where we are and how does it know how to gets to where we are going? Illustrating how important this area of brain research is to the medical and scientific community, O’Keefe and the Mosers were awarded the 2014 Nobel Prize in Physiology or Medicine. Ranck’s work is considered foundational to their discoveries.
Institution: New York University School of MedicineRuth Nussenzweig, MD, and Victor Nussenzweig, MD, NYU School of Medicine The Nussenzweigs discovered that the malaria parasite can be inactivated at the stage in its life cycle before it enters the human liver by irradiating it, and also that the irradiated parasites were capable of inducing protective immunity. This work directly led to the development of the only approved malaria vaccine, among other vaccine candidates currently in clinical trials.
Avonex (interferon beta-1a), the drug most prescribed for people suffering from relapsing multiple sclerosis
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloLawrence Jacobs, MD, University at Buffalo Jacobs School of Medicine and Biomedical Sciences School of Medicine professor of neurology Jacobs’ research showed that early treatment of multiple sclerosis with interferon beta-1a significantly reduced the rate of progression and impact of the disease, which often includes brain and nerve damage.
Identified mother-to-child transmission of HIV as the cause of pediatric AIDS
Institution: Albert Einstein College of MedicineDr. Arye Rubinstein, MD, professor of pediatrics and professor and chief of allergy & immunology, department of microbiology & immunology, at Albert Einstein College of Medicine As a result of research by Dr. Rubinstein and his colleagues, drugs administered to pregnant HIV-infected mothers, and to their newborns in the first six weeks after birth, can reduce the incidence of AIDS in newborns to below 2 percent.
Groundbreaking work elucidating the regulation of genes in the pathogenic bacteria Staphylococcus aureus.
Institution: New York University School of MedicineRichard P. Novick, MD, NYU School of Medicine Dr. Novick’s research led to a fundamental understanding of this pathogen’s virulence factors, which laid the groundwork for the development of antibiotics, vaccines and diagnostics against Staph Infection.
Key findings on the role of the bacteria of the human microbiome in health outcomes in relation to important diseases such as asthma, obesity, diabetes, and allergies
Institution: New York University School of MedicineMartin Blaser, MD, NYU School of Medicine There are 25 U.S. patents relating to Dr. Blaser’s research, with the most recent ones focusing on methods for diagnosis and/or treating skin conditions, bone disorder and obesity by characterizing and restoring mammalian bacterial microbiota. He has authored over 500 original articles and a book, “Missing Microbes: How the Overuse of Antibiotics Is Fueling Our Modern Plagues.”
ReoPro (abciximab), used to prevent clotting after cardiac angioplasty
Institution: Stony Brook University School of MedicineBarry Coller MD, at Stony Brook Medicine Platelets can form clots, which block the flow of blood, leading to a heart attack or stroke. While researching the cellular mechanism of aggregation at Stony Brook Medicine, Dr. Coller developed a monoclonal antibody that inhibits the action of a key protein receptor involved in platelet aggregation. His discovery and his subsequent collaboration with scientists at Centocor led to the creation of abciximab, a drug that effectively prevents platelets from sticking together and closing off blood vessels after angioplasty. It is distributed under the trade name ReoPro.
Growth of adult axons via dopaminergic pathway reconstruction
Institution: Columbia University College Of Physicians and SurgeonsRobert E. Burke, MD, the Alfred and Minnie Bressler Professor of Neurology, Columbia University College of Physicians & Surgeons The adult brain and spinal cord were thought to be incapable of growing new axons, the fiber-like structures that connect brain cells and form the infrastructure for all neural circuitry. Damage to these structures following spinal cord injury or stroke has therefore been considered to be irreversible. Burke and colleagues demonstrated (Annals of Neurology 2011) that treatment with superactive forms of genes that mediate axon growth during development can induce adult neurons to grow new axons. This discovery may pave the way for new restorative approaches to both acute neurologic disorders, such as spinal cord injury, and chronic degenerative diseases, such as Parkinson’s disease.
Creation of a novel herpes vaccine that protects against new and latent infections in animal model
Institution: Albert Einstein College of MedicineWilliam Jacobs, Jr., PhD, Howard Hughes Medical Institute Investigator and professor of microbiology & immunology and of genetics at Albert Einstein College of Medicine and Betsy Herold, M.D., vice chair for research and chief of infectious disease in the department of pediatrics at Albert Einstein College of Medicine and Montefiore Health System Herpes Simplex Virus (HSV) affects 500 million people worldwide but there is no vaccine or cure for existing infection. By using a counterintuitive scientific approach, the researchers developed a novel vaccine for herpes simplex virus type 2 (HSV-2), the virus that causes genital herpes. The researchers focused on stimulating that production of antibodies for a part of the virus that was previously ignored. It provided successful in mice and the researchers are currently refining their compounds.
Pioneering studies in the autonomic nervous system and fields of neurophysiology, neuroendocrinology; and cardiac physiology.
Institution: SUNY Downstate Medical CenterChandler McCuskey Brooks, PhD, chair of SUNY Downstate’s Department of Physiology and Pharmacology,1948 – 1972 ; Founding Dean of SUNY Downstate’s School of Graduate Studies, 1966- 1972. Elected to the National Academy of Sciences in 1975. Awarded the Order of the Rising Sun by the Emperor of Japan in 1979. Brooks made pioneering contributions in four distinct but overlapping fields that were fundamental to later discoveries by other research groups. In the autonomic nervous system, Brooks’ contributions included: 1) description of reflexes linking skin and muscle to autonomic activity; 2) the role of the autonomic nervous system in circadian rhythms; 3) reciprocal and non-reciprocal autonomic control mechanisms for the heart; 4) control of water balance in the body; and 5) development of the idea that the autonomic nervous system is the great integrator of body functions in that it participates in all functional activities and affects all body tissues and organs. In the field of neurophysiology, his studies of central inhibition in the spinal cord, carried out with J.C. Eccles, have become a classic in the understanding of inhibitory processes in the nervous system. As part of his pioneering work in neuroendocrinology, Brooks located the neural pathways for various phenomena (ovulation, pseudopreganancy, and diabetes insipidus) and recorded electrical activity from hypothalamic neurosecretory cells to show the linkage of “natural” stimuli to neuroendocrine hormone release. In the field of cardiac physiology Brooks, along with Oscar Orias, contributed numerous findings on cardiac excitability. The first discovery was the period of cardiac vulnerability and its relation to arrhythmias, leading to the publication of a classic, widely cited book, The Excitability of the Heart, in 1955. These studies led to the development of the principles for the use of acute and chronically implanted pacemakers. The Brooks’ group was at the forefront of intracellular recordings in cardiac muscle cells and Purkinje and sinoatrial node pacemaker cells, with the first publication appearing in 1952. This developed into many discoveries, including the role of calcium ions in the action potentials of the sinoatrial node dominant pacemakers.
Next generation of DNA and RNA Microarrays
Institution: New York Institute of Technology College of Osteopathic MedicineClaude E. Gagna, Ph.D., associate professor of life sciences, New York Institute of Technology Discovered how to immobilize intact double-stranded (ds-), multi-stranded or alternative DNA and RNA on one microarray. This immobilization allows scientists to duplicate the environment of a cell, and study, examine, and experiment with human, bacterial and viral genes. This invention provides the methodology to analyze more than 150,000 non-denatured genes. Gagna’s discovery helps scientists understand how transitions in DNA structure regulate gene expression (B-DNA to Z-DNA), and how DNA-protein, and DNA-drug interactions regulate genes, aiding in genetic screening, clinical diagnosis, forensics, DNA synthesis-sequencing and biodefense.
LivMD, a low-intensity vibration technique to improve bone health and healing
Institution: Stony Brook University School of MedicineCreated and developed by Clinton Rubin, PhD, of the Department of Biotechnology at Stony Brook Medicine Low-intensity vibration has been found to exert a range of benefits for health and is associated with no adverse effects, making it a safe and effective adjunct treatment for a wide variety of conditions. Due to its low-impact, non-invasive nature, LivMD is ideal for: seniors (especially those who are frail and at risk of falls); people with mobility and flexibility issues; athletes and others rehabilitating after injury; people with chronic pain (including fibromyalgia and arthritis); those who find it difficult to exercise; anyone with brittle bones or bone health concerns; and people with neurovestibular disease and problems balancing.
Development of a total knee replacement
Institution: SUNY Upstate Medical UniversityDavid G Murray, MD, Department of Orthopedics, Upstate Medical University; James Albert Shaw, Department of Orthopedics, Upstate Medical University; J.H. Somerset, Department of Orthopedics, Upstate Medical University. Many early total knee replacements experienced gross loosening of the components in part due to being implanted without rigorous laboratory testing. David Murray, MD came up with a new knee replacement design while on a trip to Mexico, which was in part based on the ball and socket joint of the hip. This was the first knee replacement design that included a tibial component consisting of a metal tray and stem with removable plastic (polyethelene) inserts. Current knee designs include many of its unique features.
Adolescent Trials Network (ATN) - Research of acceptability and feasibility of PrEP
Institution: City University of New York School of MedicineDr. Victoria Frye Associate Medical Professor Department of Community Health and Social Medicine Dr. Tashuna Albritton Assistant Medical Professor Department of Community Health and Social Medicine The HIV care cascade represents the proportion of people living with HIV who know their status, the proportion of those individuals who are in medical care and sustained on antiretroviral therapy (ART), and the proportion on ART who are virally suppressed. Advances in HIV testing and prevention tools have emerged to make the steps along the care cascade less steep and to diminish the racial/ethnic disparities that characterize each step in the United States. First, HIV self-testing, which was approved in the United States in 2012, has been supported by a growing body of research on the acceptability and feasibility as an accurate self-screening method. Dr. Victoria Frye, an Associate Medical Professor in the Community Health and Social Medicine department at the CUNY School of Medicine (CSOM), has been involved in the development and review of a supplement to the World Health Organization’s (WHO) Consolidated Guidelines on HIV Testing Services, recommending HIV self-testing as part of standard of care in HIV testing and partner notification (http://apps.who.int/iris/bitstream/10665/251655/1/9789241549868-eng.pdf?ua=1). The WHO now recommends that HIV self-testing should be offered as an additional approach to HIV testing services. Dr. Frye’s research has examined the acceptability and use of self-testing among young, gay Black men in the US, and she is currently leading a randomized, clinical trial of a brief, behavioral intervention to increase HIV self-testing in this population. Second, is staying HIV uninfected, once an individual knows that they are negative. Initiating antiretroviral medications to prevent HIV acquisition among HIV-uninfected individuals has been a game-changer for HIV prevention. Pre-exposure prophylaxis (PrEP), a combination of emtricitabine and tenofovir (brand name Truvada), was approved in the United States by the Food and Drug Administration (FDA) – also in 2012 – for use by adults. However, PrEP was not FDA approved for adolescents in the US until recently. Researching the acceptability and feasibility of PrEP and advocating for the expansion of PrEP use among adolescents is part of the research and practice program of Dr. Tashuna Albritton, an Assistant Medical Professor in the Community Health and Social Medicine department at the CSOM. Dr. Albritton recently published an essay, with CSOM students, urging the FDA to approve PrEP for use with adolescents. In May of this year, the FDA did in fact approve this, based on results of an Adolescent Trials Network (ATN) study, where Dr. Albritton is a Diversity Scholar.
A new technique for administering ketamine, a drug that can effectively treat depression in a matter of hours
Institution: Icahn School of Medicine at Mount SinaiDennis S. Charney, MD, Icahn School of Medicine at Mount Sinai Researchers demonstrated that ketamine can be rapidly effective in reversing suicidal thoughts.
Risk factors, treatment options and more than a dozen genes associated with Long QT Syndrome (LQTS)
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterArthur J. Moss, M.D., Bradford C. Berk, M.D., Ph.D. Distinguished Professor of Cardiology, University of Rochester School of Medicine and Dentistry Long QT syndrome is a rare, inherited disorder that makes the heart particularly susceptible to arrhythmias. If untreated, individuals with the disorder are at high risk of sudden cardiac death.
Lack of synaptic pruning in autism
Institution: Columbia University College Of Physicians and SurgeonsDavid Sulzer, PhD, professor of neurobiology in psychiatry, neurology, and pharmacology, and Guomei Tang, PhD, assistant professor of neurological sciences, Columbia University College of Physicians & Surgeons Approximately 2 percent of children are diagnosed with autism spectrum disorder (ASD), which has been associated with mutations in hundreds of genes. However, evidence has also suggested that ASD may be rooted in abnormalities of brain development. During childhood and adolescence, the brain undergoes a process called synaptic pruning to eliminate old and damaged synapses in the cerebral cortex. This process is thought to be important for intellectual and behavioral development, including responses to sensory input. Sulzer and Tang discovered that children with ASD had much less synaptic pruning—about 16 percent—compared with children without ASD, who had roughly half of their synapses pruned. They also found that the brain cells of children with ASD lacked a degradation pathway called autophagy, filling their cells with old and damaged components. The researchers are exploring new treatments to modulate this pathway, as well as biomarkers that may indicate different categories of ASD.
The discovery of Franklin’s disease, a disorder related to the production of abnormal immunoglobulin
Institution: New York University School of MedicineEdward C. Franklin, MD, NYU School of Medicine Dr. Franklin did pioneering work in immunology and broke new ground in the study of the aging processes. Franklin’s disease is a type of heavy chain disease (malignant plasma cell disorder) whose symptoms include fatigue, enlargement of the lymph nodes, and susceptibility to infections. It can be treated with chemotherapy.
Efficient method of processing and storing blood
Institution: Columbia University College Of Physicians and SurgeonsCharles Drew, MD, Columbia University College of Physicians & Surgeons In 1940, while a surgical resident at Presbyterian Hospital, Drew was chosen to lead the “Blood for Britain” project, an effort to extend the shelf life of blood for troops injured on the battlefield. His medical degree thesis focused on separating and transfusing plasma, the liquid portion of blood that contains antibodies and proteins to stabilize blood pressure and regulate clotting. Drew’s research paved the way for modern blood banking, which transformed the practice of emergency medicine and transfusions.
The gene responsible for the COX-2 enzyme, opening the door to anti-inflammatory medications
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterDonald Young, M.D., professor Emeritus, Department of Medicine, and Biochemistry and Biophysics, and other biomedical scientists at UR. Discovery of the COX-2 enzyme revealed its role in causing inflammation and of possibly suppressing inflammation. It set off a worldwide race among pharmaceutical companies to identify drugs that would inhibit the action of the enzyme.
Development of the Pap Smear to diagnose cervical cancer
Institution: Weill Cornell MedicineGeorge Papanicolaou, MD, associate professor of clinical anatomy 1940-1947, professor of clinical anatomy from 1947-1951 at Weill Cornell Medicine When the Pap Smear was first introduced in the 1940s, cervical cancer was the number one killer of women. Now a standard cancer screening test for all women, the Pap Smear has greatly reduced the death rate for cervical cancer patients worldwide.
New treatment options for advanced-stage cancer patients revealed through next-generation sequencing test
Institution: Weill Cornell MedicineOlivier Elemento, PhD, associate professor of computational genomics in computational biomedicine and of physiology and biophysics at Weill Cornell Medicine Researchers have developed a powerful new test that scans thousands of genes to reveal untapped therapies for patients with advanced cancers. The test, EXaCT-1, identifies alterations within tumors — some of which drive cancerous growth — on a magnitude up to hundreds of times greater than similar technologies designed to pinpoint the most precise ways of treating the disease.
The mechanism by which Taxol, the first blockbuster drug to treat breast and ovarian cancer, slows tumor growth
Institution: Albert Einstein College of MedicineSusan Horwitz, PhD, distinguished professor molecular pharmacology and the Rose C. Falkenstein Chair in Cancer Research at Albert Einstein College of Medicine In December 1992, the FDA approved Taxol for the treatment for ovarian cancer. Researchers also tested the effectiveness of Taxol as a treatment for advanced breast cancer. Subsequent clinical trials found that the drug was effective against this disease, and, in 1994, the FDA approved Taxol for use
Whipple surgical procedure for pancreatic cancer
Institution: Columbia University College Of Physicians and SurgeonsAllen O. Whipple, Columbia University College of Physicians & Surgeons Starting in the 19th century, attempts to treat pancreatic cancer with surgery were confined to removing part of the pancreas while leaving surrounding organs intact. In 1935, Whipple and colleagues published a report on a more extensive procedure, known as pancreaticoduodenectomy, in three patients with pancreatic cancer. Whipple’s two-stage procedure involves removing the head, or widest part, of the pancreas, the duodenum, and a portion of the stomach as well as the gallbladder and part of the common bile duct. The remaining stomach, bile duct, and pancreas are reconnected to the digestive tract. Today, most surgeons use a variation of the procedure that leaves the pylorus (the opening of the stomach into the duodenum) intact. In 1945, Whipple gave a presentation at the New York Academy of Medicine describing modifications that allowed him to transform the procedure into a one-stage operation. The Whipple procedure is still the most common operation to treat patients with pancreatic cancer.
Vinyon-N cloth tube for ruptured aneurysm
Institution: Columbia University College Of Physicians and SurgeonsArthur Voorhees, MD, professor of surgery, Columbia University College of Physicians & Surgeons In 1947, during a postmortem examination of a laboratory animal, Voorhees discovered that a silk suture that had been left in the animal’s ventricular cavity has become coated with endocardial tissue cells. This discovery inspired Voorhees to develop a synthetic artery using vinyon-N cloth, a fabric used to make parachutes during wartime. After several experiments with the artificial arteries in animals, in 1952, Voorhees had the opportunity to try his invention in a human who had a ruptured aneurysm but did not have access to a natural graft. The patient survived, and Voorhees went on to perform 18 successful procedures with the vinyon-N tube.
Development of whole-body magnetic resonance imaging; first-ever large-scale MRI scan of human subject.
Institution: SUNY Downstate Medical CenterRaymond V. Damadian, MD, SUNY Downstate Medical Center. Holds MRI patent (1972; upheld by Supreme Court in 1997) and National Medal of Technology (1988); member, National Inventors Hall of Fame (inducted 1989). The development of MRI technology capable of scanning whole body images was transformative in medical diagnosis and practice. Damadian’s contributions include the original concept of using magnetic resonance imaging for whole-body scanning of living humans; the discovery of differences of proton T1 and T2 relaxations among normal tissues and between normal and cancerous tissues that provides the biological basis for MRI; and devising a scanning method used in construction of the first full-body human MRI machine in his laboratory at Downstate. Damadian’s first human whole-body scans provided convincing evidence that the technological hurdles of using MRI to scan structures the size of the human body could be surmounted to achieve soft-tissue detail and detect diseases like cancers in ways unattainable in x-ray CT scans. These first large-scale human scans initiated a shift of MRI development from scanning small structures in academic laboratories to massive industrial development of whole-body MRI machines.
The first description of what is known today as Crohn’s disease
Institution: Icahn School of Medicine at Mount SinaiBurrill B. Crohn, MD, Leon Ginzburg, MD, and Gordon D. Oppenheimer, MD, Icahn School of Medicine at Mount Sinai Crohn’s disease causes inflammation of the lining of the digestive tract, which can lead to abdominal pain, severe diarrhea, fatigue, weight loss and malnutrition. Crohn’s disease may affect as many as 700,000 Americans. Identification of the disease was the first step leading to the development of a range of treatment options.
Molecular mechanisms of memory storage
Institution: Columbia University College Of Physicians and SurgeonsEric R. Kandel, MD, University Professor and Kavli Professor of Brain Science, in Physiology and Cell Biophysics, Psychiatry, Biochemistry and Molecular Biophysics, and Physiology and Cellular Biophysics, Columbia University College of Physicians & Surgeons Throughout his career, Kandel has studied how nerve cells store memories in the brain. In 1970, while studying sea snails—marine animals with a simple nervous system—he discovered that chemical signals changed the structure of the synapses that send and receive signals between nerve cells during learning tasks. Subsequently, Kandel demonstrated that different signals contribute to the formation of short-term and long-term memories in all animals that have the capacity to learn. In 1988, Kandel was the recipient of the President’s National Medal of Science. In 2000, he was awarded the Nobel Prize in Physiology or Medicine for his discoveries in signal transduction in the nervous system.
The “neural tourniquet,” a technology that uses electrical nerve stimulation to control bleeding
Institution: Stony Brook University School of MedicineChristopher J. Czura, PhD, and Jared Huston, MD, at Stony Brook Medicine The “neural tourniquet” is a nerve stimulation device that can significantly reduce bleeding. Neural tourniquet technology helps doctors reduce blood loss at accident scenes, in battle zones and in more than 50 million surgeries performed annually in the United States alone.
First successful pediatric heart transplant
Institution: Columbia University College Of Physicians and SurgeonsEric Rose, MD, Columbia University College of Physicians & Surgeons Rose’s success in pediatric heart transplantation was an important milestone in transplantation surgery. He was recruited in 1977 by Keith Reemstma, MD, then chair of Columbia’s Department of Surgery, to establish a pediatric heart transplant program. (In 1977, Reemstma performed Columbia’s first adult heart transplant.) In 1983, the FDA approved the immunosuppressant drug cyclosporine, which had been tested at a handful of medical centers, including Columbia, to prevent organ rejection in transplant patients. The following year, Rose and his team performed a heart transplant in a 4-year-old boy, using cyclosporine to prevent organ rejection. Since then, many improvements in surgical techniques and medicine have made it possible to transplant hundreds of babies and children with congenital heart defects and other severe heart problems.
Identification of cystic fibrosis and development of the sweat test
Institution: Columbia University College Of Physicians and SurgeonsDorothy Andersen, MD, professor of pathology at Columbia University College of Physicians & Surgeons and chief of pathology at Presbyterian Hospital (now NewYork-Presbyterian), and Paul di Sant’Agnese, MD, pediatric pathologist at Columbia Andersen first identified cystic fibrosis in 1935, after performing an autopsy of a child who had presumably died of complications of celiac disease. During the autopsy, Andersen discovered that the child had a pancreatic lesion. A subsequent review of autopsy records revealed that the disease affects mucous glands and pancreatic enzyme production, causing severe respiratory problems. In 1951, Andersen published a report of children with cystic fibrosis who died of severe salt depletion during an earlier heat wave. Di Sant’Agnese, who worked with Andersen, used this information to determine that people with cystic fibrosis have saltier sweat and are more likely to suffer from salt depletion than those without the disease. This insight led to the development of the sweat test, which became the standard method of diagnosing cystic fibrosis. It is used in those who have a positive result on a newborn screening test that identifies genetic mutations associated with the disease.
Portable Patient Ventilator for anesthetizing patients in intensive care units
Institution: Jacobs School of Medicine and Biomedical Sciences, the University at BuffaloBradley Fuhrman, MD, University at Buffalo Jacobs School of Medicine and Biomedical Sciences professor of pediatrics and anesthesiology and chief of critical care at Women and Children’s Hospital of Buffalo, and Mark Dowhy, director of the Pediatric Critical Care Laboratory in the Department of Pediatrics UB researchers designed a portable patient ventilator that delivers small amounts of powerful inhalation anesthetic agents to patients in intensive care units (ICUs) as they breathe or are mechanically ventilated. Patients are deeply enough sedated so they’re unaware of pain but not so deeply that they experience withdrawal symptoms once they’re no longer sedated. The device works as effectively as anesthesia in the operating room, but without the expensive equipment and monitoring requirements. A key advantage of anesthesia delivered through the lung over intravenous sedation is that it has a much more rapid onset of effect and much quicker reversal once it’s removed. This is an especially important consideration in patients who need to be frequently or abruptly awakened, such as children who have suffered trauma to the skull. The device also has promising applications in treating large numbers of patients during pandemics or other events with mass casualties because it can safely enable multiple patients to share a single ventilator.
A monoclonal antibody against TNF alpha, a powerful promoter of inflammation.
Institution: New York University School of MedicineJan Vilcek, MD, PhD, NYU School of Medicine Collaborating with the biotechnology company Centocor, Dr. Vilcek helped to develop the biologic drug known commercially as Remicade. To date, Remicade has been used to treat over a million patients worldwide for conditions including rheumatoid arthritis, psoriatic arthritis, ankylosing spondylitis, Crohn’s disease, plaque psoriasis, and ulcerative colitis.
PTI-125 clinical-stage small molecule drug candidate to treat Alzheimer’s disease derived from collaborative work with Pain Therapeutics, Inc.
Institution: City University of New York School of MedicineHoau-Yan Wang, Ph.D. PTI-125 is a clinical-stage small molecule drug candidate to treat Alzheimer’s disease derived from collaborative work with Pain Therapeutics, Inc. (Austin, Texas). PTI-125 has a novel mechanism of action: it binds an altered shape of the scaffolding protein and restores its normal shape. Altered scaffolding protein links to the brain receptors, enabling aberrant signaling by the Alzheimer’s disease pathological factor, amyloid-β through these receptors. By restoring the native shape of the scaffolding protein and blocking these toxic cascades, PTI-125 drastically reduced Alzheimer’s disease brain pathologies, and improved neuronal plasticity and function of the brain receptors. These effects translate to cognitive improvements in Alzheimer’s disease mouse model and suggest the possibility of disease modification in humans. Based on PTI-125’s underlying science, a blood-based diagnostic for Alzheimer’s disease, PTI-125Dx, is also under development.
Infants and children are uniquely sensitive to pesticides and other toxic chemicals in the environment
Institution: Icahn School of Medicine at Mount SinaiPhilip Landrigan, MD, MSc at Icahn School of Medicine at Mount Sinai As a result of this work, public health laws have been developed to protect children from these harmful chemicals, including banning lead from paint and gasoline nationwide, and eliminating BPA from cash-register receipts in certain jurisdictions.
PTEN tumor suppressor gene
Institution: Columbia University College Of Physicians and SurgeonsRamon Parsons, MD, Columbia University College of Physicians & Surgeons While looking for genes associated with breast cancer, Parsons and his team discovered that inactivation of a tumor suppressor gene, PTEN, is linked to several cancers, including prostate, brain, breast, and kidney cancer. Parsons’ work was published at the same time that another cancer researcher, Peter Steck, of MD Anderson, made the same discovery, calling the gene MMAC1. Reduced activity in the gene has been shown to affect tumor cell growth and survival, as well as the tumor microenvironment. More recently, in preclinical research, Parsons found that variants of the gene can be administered to restore PTEN activity.
Genomic imprinting in humans
Institution: Columbia University College Of Physicians and SurgeonsBenjamin Tycko, MD, PhD, professor of pathology in the Institute for Cancer Genetics and the Taub Institute, Columbia University College of Physicians & Surgeons In most cases, people inherit two working copies of a gene—one from each parent. In genomic imprinting, the addition of an epigenetic tag (e.g., a methyl group) during egg or sperm development silences one of the alleles, from either the mother or the father. This phenomenon had previously been observed in mice. Previously, researchers had found that only the maternal allele of H19 was active, the paternal allele having been silenced. Subsequently, Tycko and colleagues discovered that maternal imprinting of H19 also occurs in humans. This finding has implications for cancer treatment, in which paternally or maternally imprinted oncogenes may be modified in a single step.
The characteristic cellular changes occurring in people with Tay-Sachs disease
Institution: Icahn School of Medicine at Mount SinaiBernard Sachs, MD, Icahn School of Medicine at Mount Sinai Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord. Dr. Sachs also observed that most babies with Tay-Sachs disease were of Eastern European Jewish origin.
The Mind-Immune System Connection:“Psycho-neuro-immunology”
Institution: School of Medicine and Dentistry at the University of Rochester Medical CenterUniversity Rochester Professor Emeritus of Psychiatry Robert Ader, Ph.D. (deceased), Professor of Microbiology and Immunology Nicholas Cohen, Ph.D. and Neuroscientist David Felton, Ph.D. (currently of Oakland University). Ader and his colleagues transformed the way physicians think about the relationship between life events and the environment, and how the human body responds biologically. This work continues to have extraordinary implications, not only for understanding immunological responses to stress and disease, but also for appreciating the potentially powerful positive effects of what’s known as the ‘placebo effect.’ Ader created the field of psychoneuroimmunology (PNI).
Sonic Hedgehog (Shh) signaling prevents formation of L-Dopa induced dyskinesia in Parkinson’s disease
Institution: City University of New York School of MedicineAndreas H Kottmann, Ph.D., Associate Professor, CSOM Replenishing dopamine levels in Parkinson’s Disease (PD) patients is an efficacious treatment for many of the symptoms that are caused by the relentlessly progressive degeneration of dopamine producing neurons. However, the drug, Levo-Dopamine, causes the appearance of uncontrollable, purposeless and utterly debilitating movements, so called “Levo-DopamineInduced Dyskinesia” (LID), in most patients after several years of treatment. Kottmann discovered that dopamine producing neurons in the healthy brain do not only produce dopamine and other neurotransmitters but also the secreted cell communication factor Shh. He also found that the pharmacological stimulation of Shh signaling during Levo-Dopamine therapy reduces LID formation and expression across rodent and primate models of PD. The researcher is now exploring new treatments based on the modulation of the Shh pathway in PD patients, as well as Shh signaling based biomarkers that might identify different categories and stages of PD.