The Department of Genetics and Genomic Sciences leverages a legacy of excellence and a team of world-class geneticists and researchers to advance the field of genomics. Ranked second nationally for NIH funding in genetics research, the department, led by Alison Goate, DPhil, specializes in areas such as rare and metabolic diseases, cancer genomics, neurodegenerative and neuropsychiatric diseases, AI-driven drug discovery, functional genomics, single cell sequencing, immunogenomics, microbiome, and infectious diseases genomics.
Home to the Division of Medical Genetics and Genomics, a National Organization for Rare Diseases Center of Excellence, the department excels in the screening, diagnosis, and treatment of genetic diseases, birth defects, reproductive complications, and cancer risks in both adults and children. Under the leadership of Manisha Balwani, MD, MS, the division offers 15 specialty programs and clinics, actively trains the next generation of genetics professionals, and collaborates extensively within the Mount Sinai Health System to provide patients access to cutting-edge research and new treatment options.
The Department of Genetics and Genomic Sciences leverages a legacy of excellence and a team of world-class geneticists and researchers to advance the field of genomics. Ranked second nationally for NIH funding in genetics research, the department, led by Alison Goate, DPhil, specializes in areas such as rare and metabolic diseases, cancer genomics, neurodegenerative and neuropsychiatric diseases, AI-driven drug discovery, functional genomics, single cell sequencing, immunogenomics, microbiome, and infectious diseases genomics.
Home to the Division of Medical Genetics and Genomics, a National Organization for Rare Diseases Center of Excellence, the department excels in the screening, diagnosis, and treatment of genetic diseases, birth defects, reproductive complications, and cancer risks in both adults and children. Under the leadership of Manisha Balwani, MD, MS, the division offers 15 specialty programs and clinics, actively trains the next generation of genetics professionals, and collaborates extensively within the Mount Sinai Health System to provide patients access to cutting-edge research and new treatment options.
A collaborative study between researchers at the Icahn School of Medicine at Mount Sinai and Harvard Medical School has identified genetic mutations that occur during brain development and may contribute to the development of schizophrenia.
The laboratory of Inga Peter, PhD, Vice Chair of the Mount Sinai Department of Genetics and Genomic Sciences, has uncovered a surprising link between inflammatory bowel disease (IBD) and Parkinson’s disease.
Mount Sinai’s Center for Advanced Genomics Technology (CAGT) offers the latest in sequencing tools, driving innovation in both basic and translational research that will impact clinical care.
Mount Sinai has joined the Clinical Proteomic Tumor Analysis Consortium (CPTAC), a national initiative aimed at advancing cancer treatment by integrating proteogenomics—analyzing the proteins encoded by cancer genes.
The Mount Sinai Pathogen Surveillance Program (PSP) is leading efforts to track the evolution of infectious diseases by sequencing over 25,000 bacteria and viruses isolated from patients within the health system.
Alison Goate, DPhil, Chair of the Department of Genetics and Genomic Sciences and Director of the Ronald M. Loeb Center for Alzheimer’s Disease, leads groundbreaking research on how genetic risk factors contribute to Alzheimer’s.
The Mount Sinai Center for Transformative Disease Modeling is leading efforts to integrate big data and biological networks to uncover new therapeutic targets for complex diseases like Alzheimer’s, Parkinson’s, and cancer.
Researchers at the Icahn School of Medicine at Mount Sinai have published a pivotal study in Nature Genetics (DOI: 10.1038/s41588-024-01917-1) that sheds light on a novel genetic variant associated with intellectual capacities and educational outcomes.
A new four-year, $3.26 million grant from the National Institute of Neurological Disorders and Stroke (NINDS), a part of the National Institutes of Health (NIH), establishes the first Undiagnosed Diseases Network (UDN) site in the New York metropolitan area.
The Mount Sinai Reproductive Genetic Counseling Program provides specialized genetic counseling for patients planning a pregnancy or currently expecting. Our expert team, including genetic counselors and physicians, works closely with ...
For patients with a genetic diagnosis of a hereditary cancer syndrome—such as Lynch syndrome, Li-Fraumeni syndrome, or familial adenomatous polyposis—early detection and proactive management are essential.
A team from the Icahn School of Medicine at Mount Sinai has developed the most comprehensive epidemiological dataset for youth diabetes and prediabetes research, derived from extensive National Health and Nutrition Examination Survey (NHANES) ...
Researchers from the Icahn School of Medicine at Mount Sinai have shed valuable light on the nuanced functions and intricate regulatory methods of RNA editing, a critical mechanism underlying brain development and disease.
Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading ...
Using an advanced artificial intelligence tool, researchers at the Icahn School of Medicine at Mount Sinai have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading ...
Researchers at the Icahn School of Medicine at Mount Sinai have made a significant breakthrough in Alzheimer’s disease research by identifying a novel way to potentially slow down or even halt disease progression. The study, which focuses ...
Researchers at the Icahn School of Medicine at Mount Sinai have made a significant discovery, identifying genetic connections between inflammatory bowel disease (IBD) and Parkinson’s disease (PD). Published in Genome Medicine (DOI 10.1186/s13073-024-01335-2) ...
Researchers at the Icahn School of Medicine at Mount Sinai and others have harnessed the power of machine learning to identify key predictors of mortality in dementia patients.
Researchers from the Icahn School of Medicine at Mount Sinai, in collaboration with the Clinical Proteomic Tumor Analysis Consortium of the National Institutes of Health, The University of Texas MD Anderson Cancer Center, Sylvester Comprehensive ...
The Icahn School of Medicine at Mount Sinai has been awarded a grant of more than $4 million from The Leona M. and Harry B. Helmsley Charitable Trust to support an innovative research project aimed at understanding the early stages of ...
In a landmark study recently published in the journal Nature Methods, researchers at the Icahn School of Medicine at Mount Sinai have unveiled mEnrich-seq—an innovative method designed to substantially enhance the specificity and efficiency ...
Driven by the need for a better way to prioritize targets for drug development, the Icahn School of Medicine at Mount Sinai has led the development of a novel “genetic priority score” (GPS) that will integrate various types of human genetic ...
BridgePRS improves prediction of African ancestry individuals in the New York BioMe cohort
A team of scientists from Icahn School of Medicine at Mount Sinai has developed a groundbreaking statistical technique, “BridgePRS,” to enhance ...
In a novel study, researchers from the Icahn School of Medicine at Mount Sinai introduced LoGoFunc, an advanced computational tool that predicts pathogenic gain- and loss-of-function variants across the genome.
Researchers at the Mount Sinai Center for Transformative Disease Modeling have released a groundbreaking study identifying 4,749 key gene clusters, termed “prognostic modules,” that significantly influence the progression of 32 different ...
A new study by researchers at the Icahn School of Medicine at Mount Sinai has unraveled the intricate molecular interplay between systemic processes within the blood and localized processes within the airways of individuals with asthma.
A new study led by researchers at the Icahn School of Medicine at Mount Sinai has revealed key differences in gut bacteria and their metabolic byproducts in infants that may predict the development of peanut allergies by mid-childhood. ...
Using a novel proteogenomic strategy and a variety of machine learning tools, investigators from the Icahn School of Medicine at Mount Sinai and colleagues have identified a 64-protein signature that may predict a subset of ovarian cancer ...
Mount Sinai researchers help identify previously unknown genetic causes of primary lymphedema, thoracic aortic aneurysm disease, and congenital deafness.
The Jeff and Lisa Blau Adolescent Consultation Center for Resilience and Treatment is studying 10 rare genetic mutations that are implicated in schizophrenia.
A new study links a gene called inositol polyphosphate-5-phosphatase D (INPP5D) which is concentrated in the brain’s cleanup cells known as microglia, to the inflammation that has increasingly emerged as a key mechanism contributing to Alzheimer’s disease.
The search for effective new treatments for liver cancer has led Mount Sinai investigators to highly targeted compound libraries that include kinase inhibitors, histone modifying enzymes, and other small molecules used in combination with ...
