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Recent Scientific and Medical Breakthroughs

Propelled by bold thinking, disciplined science, and a passion to advance patient care, the Icahn School of Medicine at Mount Sinai research community is the birthplace of countless scientific breakthroughs. Situated within the Mount Sinai Health System, our investigators thrive in cutting-edge facilities and work within collaborative teams to produce discoveries that span all disciplines.

A Novel Approach to Enhance Drug Delivery for Brain Tumors in Children

Medulloblastoma is the most common malignant brain tumor found in children. The cancer is highly aggressive and difficult to treat, but Mount Sinai researchers have developed a new approach that harnesses nanoparticles to deliver anti-cancer drugs more effectively and precisely, while sparing normal brain regions. To achieve this, investigators made use of a homing mechanism in activated blood vessels that immune cells use to go where they are needed, which is also found in brain tumor blood vessels, then targeted their drug-loaded nanoparticles to the site of the disease. The researchers anticipate that continued development of this method will be instrumental for improving the efficacy of several classes of approved and experimental therapeutics.

Nature Materials, March 2, 2023
Praveen B. Raju, MD, PhD, Associate Professor, Neurology, Associate Professor, Neuroscience

Transcatheter Mitral Valve Repair in Heart Failure Patients Improves Survival

A large study led by Mount Sinai researchers has shown that transcatheter mitral valve repair for heart failure patients with mitral regurgitation can reduce the long-term rate of hospitalizations by almost fifty percent, and death by nearly thirty percent. In the five-year, multi-center study, researchers analyzed over 600 patients following the procedure, as well as patients relying on medications alone, finding that those who had the transcatheter mitral valve repair felt better, were hospitalized less frequently, and lived longer. While heart failure continues to be a severe condition that will require new advanced therapies, patients who had undergone the transcatheter mitral valve repair spent, on average, 229 more days alive and out of the hospital.

New England Journal of Medicine, March 5, 2023
Gregg Stone, MD, FACC, FSCAI, Professor of Medicine and Cardiology, Professor, Population Health Science and Policy

Immunotherapy Post Surgery Provides Durable Benefit for High-Risk Bladder Patients

A Phase 3 clinical trial conducted by researchers at the Tisch Cancer Institute has shown that adjuvant nivolumab, a monoclonal antibody immune checkpoint inhibitor, significantly increased the chance of bladder cancer patients staying cancer-free after surgery. The trial involved almost 700 patients with urothelial cancer, and the average length of time before relapse doubled for those who received nivolumab, compared to those who received a placebo. These results reinforce adjuvant nivolumab as a standard of care for patients with urothelial cancer of the bladder or upper urinary tract.

Presentation, American Society of Clinical Oncology Genitourinary Cancers Symposium, February 16, 2023
Matthew Galsky, MD, Professor of Medicine (Hematology and Medical Oncology)

Scientists Create Powerful Tool to Research Deadliest Blood Cancer

Researchers at the Tisch Cancer Center have created groundbreaking tools to empower leukemia research—specifically, research into the cancer’s deadliest form. Acute myeloid leukemia is fast-growing with only a 29 percent survival rate, yet because these cancer cells survive poorly outside the body (among other challenges) research into the disease has proven difficult. In response, Tisch Cancer Center investigators used genetic reprogramming technology to convert cells from acute myeloid leukemia patients to a particular type of stem cells which can mimic different stages of disease progression, allowing scientists to study blood cancer’s deadliest form in brand new ways.

Blood Cancer Discovery, April 17, 2023
Eirini Papapetrou, MD, PhD, Professor of Oncological Sciences, and Medicine (Hematology and Medical Oncology)

Potential New Targets Identified in Advanced Non-Alcoholic Fatty Liver Disease

Researchers at the Icahn School of Medicine at Mount Sinai have used innovative technologies to identify potential drug targets for non-alcoholic fatty liver disease (NAFLD) and its more advanced stage, non-alcoholic steatohepatitis (NASH), which can lead to cirrhosis and liver failure. The researchers utilized single-nuclear sequencing of both mice and human liver tissue, as well as advanced 3D glass imaging of mice, to identify a network of cell-to-cell communication that drives scarring as the disease progresses. The researchers discovered sixty-eight pairs of potential drug targets across both species, and tested an existing cancer drug in mice to establish its potential as a new treatment for NASH fibrosis.

Science Translational Medicine, January 4, 2023
Scott Friedman, MD, Dean for Therapeutic Discovery, Icahn School of Medicine at Mount Sinai

New Formulation of FDA-Approved Drug Shows Results for Treating Common Itch Condition

A new dermatologic study by the Icahn School of Medicine at Mount Sinai has found that patients with the nerve disorder notalgia paresthetica could get relief from moderate-to-severe itching with oral difelikefalin. The drug—currently FDA-approved only as an injection for moderate-to-severe itching in chronic kidney disease—was found to reduce the intensity of itch in notalgia paresthetica patients. In the Phase 2 trial, the reported reduction in itch score was 4.0 points in patients taking oral difelikefalin, as compared to 2.4 points in those taking the placebo. Further trials are required to assess the efficacy and safety of oral difelikefalin, but if progress continues in the Phase 3 trial, it would be the first FDA-approved drug specifically for notalgia paresthetica.

New England Journal of Medicine, February 9, 2023
Brian S. Kim, MD, Vice Chair of Research, Icahn School of Medicine at Mount Sinai

Genetic Causes of Three Previously Unexplained Rare Disease Identified

A new computational approach developed by Mount Sinai researchers has identified the genetic causes of primary lymphedema, thoracic aortic aneurysm disease, and congenital deafness. In this discovery, Mount Sinai investigators harnessed data from the 100,00 Genomes Project and identified 260 associations between genes and rare disease classes—including nineteen previously unknown associations—then validated the three most plausible novel associations. Patients with rare diseases often struggle for years to obtain a genetic diagnosis, but the development of such computational models can hasten diagnosis, as well as pave the way to new treatments options. The team now plans to apply this new computational framework to other datasets.   

Nature Medicine, March 16, 2023
Daniel Greene, PhD, Assistant Professor of Genetic and Genomic Sciences

Researchers Identify Novel Genes That May Increase Risk for Schizophrenia

In the largest known study of its kind, Mount Sinai researchers have identified two previously unknown genes linked to schizophrenia. The study—notable for its investigation of schizophrenia across diverse populations, particularly those of African ancestry—also newly implicated a third gene, which is now additionally identified as carrying a shared risk for autism. By studying a subset of genes, the team discovered rare damaging variants, a breakthrough that could potentially lead to new medicines. The investigators will now work next on identifying drugs that may target the genes revealed in the study.

Nature Genetics, March 13, 2023
Dongjing Liu, PhD, Postdoctoral Researcher in the laboratory of Alexander W. Charney, MD, PhD

Revealing the Mechanisms Underlying Autoimmunity in Down Syndrome Patients

Scientists from the Icahn School of Medicine at Mount Sinai have critically identified which parts of the immune system go awry in patients with Down Syndrome and contribute to autoimmune diseases. The investigators identified key players in the adaptive immune response, including cytokines and a B-cell subtype, as potential culprits for autoimmunity in Down Syndrome patients, who typically have less frequent but more severe viral infections. The researchers plan to explore these causes further and eventually create a clinical trial. Down Syndrome remains the most common genetic condition diagnosed at birth.

Nature, February 22, 2023
Dusan Bogunovic, PhD, Professor at the Precision Immunology Institute, Mindich Child Health and Development Institute, and the Icahn Genomics Institute

First Stem Cells from Bat Species Could Reveal Keys to Virus Survival and Adaptability

Researchers from the Icahn School of Medicine at Mount Sinai have successfully generated the first induced pluripotent stem cells (iPSCs) from bats, a species known to harbor SARS-CoV-2. Many species of bat survive viruses that have a high mortality rate for humans, and the iPSCs demonstrate a unique stem cell biology never observed before. In establishing this new research platform, the scientists hope to further understand bats as virus reservoirs, then use that knowledge to prepare for future pandemics, as well as propel the development of novel therapeutics.

Cell, February 21, 2023
Thomas P. Zwaka, MD, PhD, Professor, Cell, Developmental & Regenerative Biology

Exposure to Chemicals in Everyday Products Linked to Significantly Reduced Fertility

In one of the first studies of its kind, researchers at Mount Sinai have demonstrated the harmful reproductive effects of perfluoroalkyl substances, known as PFAS, in humans. Found in drinking water and a range of consumer products, investigators studied the impact of PFAs in 1,032 women of child-bearing age, finding that higher concentrations of PFAs may result in as much as a 40% reduction in fertility. This fertility reduction includes women who are otherwise considered healthy, and the critical study adds to a growing body of research implicating PFAs in the development of adverse health conditions.

Science of the Total Environment, February 24, 2023
Nathan Cohen, PhD, Postdoctoral Research Fellow, Department of Environmental Medicine and Public Health

Evidence Emerges on How Individuals Transition from Recreational to Compulsive Drug Use

Researchers at the Icahn School of Medicine at Mount Sinai have identified a molecule and signaling pathway that appear to be pivotal to the pathophysiology of drug addiction. The molecule, known as Retinoid X Receptor Alpha (RXRα), seems to dictate the sensitivity of individuals to the initially rewarding properties of drug use. Scientists from the Friedman Brain Institute were especially intrigued that a single molecule could have such a profound effect on modulating complex behaviors related to drug addiction. The discovery of Retinoid X Receptor Alpha establishes the platform for future research on preventative strategies for drug addiction that target this molecule. 

Neuron, February 28, 2023
Arthur Godino, PhD Graduate Candidate in the laboratory of Eric Nestler, MD, PhD

Featured Breakthroughs