Projects per year
Organization profile
organization profile
The Department of Genetics and Genomic Sciences leverages a legacy of excellence, a team of world-class geneticists and researchers, and access to one-of-a-kind resources and collaborations to bring pioneering ideas to life.
The Department ranked #2 in the country in NIH funding in genetics research in 2021 with specialty research programs including rare and metabolic diseases, cancer genomics, genomics of neurodegenerative and neuropsychiatric diseases, experimental and AI approaches to drug discovery, functional genomics, single cell sequencing, experimental biology, immunogenomics, microbiome, and genomics of infectious diseases. The Department’s faculty is composed of basic and translational research scientists, data scientists, technology innovators, and experts in key diseases working together with the shared goal of leveraging large-scale data, coupled with applications of advanced multi-omics technologies, to predict, test, and translate novel therapies faster and more effectively.
Patient Care
We are home to the Division of Medical Genetics and Genomics, a National Organization for Rare Diseases Center of Excellence, specializing in the screening, diagnosis, and treatment of adult and pediatric patients with or suspected of having genetic diseases, birth defects, reproductive complications, or cancer risks. The Division offers 12 specialty programs and clinics and is highly engaged in training the next generation of genetics and genomics professionals through its residency and fellowship programs. The Division’s home within the Department of Genetics and Genomic Sciences and collaborations throughout the Mount Sinai Health System helps medical faculty and physician scientists provide patients access to cutting-edge research that will shed light on how genetic and genomic variation contributes to human disease and bring hope for new treatment options to patients.
Clinical Trials
The Department’s faculty has a substantial history of translational work and conducting clinical trials for patients with rare genetic disorders and has a dedicated Genetics Clinical Trials Office. To date, the department has performed more than 50 industry, National Institutes of Health, and investigator-initiated studies including groundbreaking DNA, RNA, and enzyme-based therapies.
Education and Training
The Department’s extensive education and training programs include a PhD concentration in Genetics and Genomic Sciences, a Masters of Science program in Genetic Counseling, Clinical and Research Training Fellowships in Medical Genetics, a Clinical Genetics Laboratory Training Program, and two T32 training grants.
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Research units
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Center for Advanced Genomic Technology
Icahn School of Medicine at Mount Sinai, Genetics and Genomic Sciences
Organizational unit: Institute
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Icahn Genomics Institute
Icahn School of Medicine at Mount Sinai, Genetics and Genomic Sciences
Organizational unit: Institute
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Mount Sinai Center for Transformative Disease Modeling
Icahn School of Medicine at Mount Sinai, Genetics and Genomic Sciences
Organizational unit: Institute
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Mount Sinai Clinical Intelligence Institute
Icahn School of Medicine at Mount Sinai, Genetics and Genomic Sciences
Organizational unit: Institute
Profiles
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Mount Sinai Health System Kidney Precision Medicine Project
Campbell, K., Nadkarni, G. & Coca, S.
National Institute of Diabetes and Digestive and Kidney Diseases
15/09/22 → 30/06/23
Project: Research
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Congenital Heart Disease Expert Curation Panel
Roberts, A. A. E. & Gelb, B.
National Institute of Child Health and Human Development
1/08/22 → 30/06/23
Project: Research
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Dissect regulation of glial nets surrounding amyloid plaques in Alzheimer's disease
Friedel, R., Zou, H. & Wang, M.
5/05/22 → 30/04/25
Project: Research
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Systematic identification of genetic modifiers of dysfunctional neuronal networks in Alzheimer's disease
Wang, M. & Li, A. A.
15/04/22 → 31/03/24
Project: Research
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FXTAS key molecular pathways converge with other neurodegenerative disorders
National Institute of Neurological Disorders and Stroke
15/04/22 → 31/03/23
Project: Research
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Engineering dendritic cells to target islet antigen to pro-tolerogenic subsets for prevention and treatment of Type 1 Diabetes
Agudo-Cantero, J.
National Institute of Diabetes and Digestive and Kidney Diseases
1/04/22 → 31/03/23
Project: Research
Research output
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A comparison of four epidemic waves of COVID-19 in Malawi; an observational cohort study
Blantyre COVID-19 Consortium, Dec 2023, In: BMC Infectious Diseases. 23, 1, 79.Research output: Contribution to journal › Article › peer-review
Open Access -
Acute systemic myeloid inflammatory and stress response in severe food allergic reactions
Sharma, A., Rijavec, M., Tomar, S., Yamani, A., Ganesan, V., Krempski, J., Schuler, C. F., Bunyavanich, S., Korosec, P. & Hogan, S. P., 2023, (Accepted/In press) In: Clinical and Experimental Allergy.Research output: Contribution to journal › Article › peer-review
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Adverse pregnancy outcomes and long term risk of ischemic heart disease in mothers: national cohort and co-sibling study
Crump, C., Sundquist, J., McLaughlin, M. A., Dolan, S. M., Govindarajulu, U., Sieh, W. & Sundquist, K., 1 Feb 2023, In: The BMJ. e072112.Research output: Contribution to journal › Article › peer-review
Open Access -
AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review
Wang, B., Bonkovsky, H. L., Lim, J. K. & Balwani, M., 2023, (Accepted/In press) In: Gastroenterology.Research output: Contribution to journal › Article › peer-review
Open Access -
Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons
Popova, D., Gameiro-Ros, I., Youssef, M. M., Zalamea, P., Morris, A. D., Prytkova, I., Jadali, A., Kwan, K. Y., Kamarajan, C., Salvatore, J. E., Xuei, X., Chorlian, D. B., Porjesz, B., Kuperman, S., Dick, D. M., Goate, A., Edenberg, H. J., Tischfield, J. A., Pang, Z. P., Slesinger, P. A., & 1 others , Feb 2023, In: Molecular Psychiatry. 28, 2, p. 746-758 13 p.Research output: Contribution to journal › Article › peer-review
Open Access -
An atlas of substrate specificities for the human serine/threonine kinome
Johnson, J. L., Yaron, T. M., Huntsman, E. M., Kerelsky, A., Song, J., Regev, A., Lin, T. Y., Liberatore, K., Cizin, D. M., Cohen, B. M., Vasan, N., Ma, Y., Krismer, K., Robles, J. T., van de Kooij, B., van Vlimmeren, A. E., Andrée-Busch, N., Käufer, N. F., Dorovkov, M. V., Ryazanov, A. G., & 20 others , 26 Jan 2023, In: Nature. 613, 7945, p. 759-766 8 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
An inactivated NDV-HXP-S COVID-19 vaccine elicits a higher proportion of neutralizing antibodies in humans than mRNA vaccination
Carreño, J. M., Raskin, A., Singh, G., Tcheou, J., Kawabata, H., Gleason, C., Srivastava, K., Vigdorovich, V., Dambrauskas, N., Gupta, S. L., González Domínguez, I., Martinez, J. L., Slamanig, S., Sather, D. N., Raghunandan, R., Wirachwong, P., Muangnoicharoen, S., Pitisuttithum, P., Wrammert, J., Suthar, M. S., & 5 others , 15 Feb 2023, In: Science Translational Medicine. 15, 683, p. eabo2847Research output: Contribution to journal › Article › peer-review
Open Access -
Antigenic Landscape Analysis of Individuals Vaccinated with a Universal Influenza Virus Vaccine Candidate Reveals Induction of Cross-Subtype Immunity
Meade, P., Strohmeier, S., Bermúdez-González, M. C., García-Sastre, A., Palese, P., Simon, V. & Krammer, F., Jan 2023, In: Journal of Virology. 97, 1Research output: Contribution to journal › Article › peer-review
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Anti-Integrin αvβ6 Autoantibodies Are a Novel Biomarker That Antedate Ulcerative Colitis
CCC-GEM Project Research Consortium & OSCCAR Consortium, 2023, (Accepted/In press) In: Gastroenterology.Research output: Contribution to journal › Article › peer-review
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Applications of artificial intelligence in prostate cancer histopathology
Busby, D., Grauer, R., Pandav, K., Khosla, A., Jain, P., Menon, M., Haines, G. K., Cordon-Cardo, C., Gorin, M. A. & Tewari, A. K., 2023, (Accepted/In press) In: Urologic Oncology: Seminars and Original Investigations.Research output: Contribution to journal › Review article › peer-review
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Association of Potentially Damaging de Novo Gene Variants with Neurologic Outcomes in Congenital Heart Disease
Morton, S. U., Norris-Brilliant, A., Cunningham, S., King, E., Goldmuntz, E., Brueckner, M., Miller, T. A., Thomas, N. H., Liu, C., Adams, H. R., Bellinger, D. C., Cleveland, J., Cnota, J. F., Dale, A. M., Frommelt, M., Gelb, B. D., Grant, P. E., Goldberg, C. S., Huang, H., Kuperman, J. M., & 12 others , 26 Jan 2023, In: JAMA network open. 6, 1, p. E2253191Research output: Contribution to journal › Article › peer-review
Open Access -
A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients
Peters, L. A., Friedman, J. R., Stojmirovic, A., Hagen, J., Houten, S., Dodatko, T., Amaro, M. P., Restrepo, P., Chai, Z., Rodrigo Mora, J., Raymond, H. A., Curran, M., Dobrin, R., Das, A., Xiong, H., Schadt, E. E., Argmann, C. & Losic, B., Dec 2023, In: Communications Biology. 6, 1, 95.Research output: Contribution to journal › Article › peer-review
Open Access
Press/Media
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Study across ethnicities identifies new genes carrying Schizophrenia risk
15/03/23
3 items of Media coverage
Press/Media
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US Patent Issued to Hefei Institutes of Physical Science, Chinese Academy of Sciences on March 14 for "Pyrimidine derivative kinase inhibitors" (Chinese Inventors)
Li Wang
15/03/23
1 item of Media coverage
Press/Media
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Novel Genes That May Increase Schizophrenia Risk Identified
Pamela Sklar, Laura Huckins & Alexander Charney
14/03/23
1 item of Media coverage
Press/Media
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New genes identified that could increase the risk of schizophrenia
14/03/23
1 item of Media coverage
Press/Media
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New genes found that may increase schizophrenia risk
Alexander Charney, Pamela Sklar & Laura Huckins
13/03/23 → 14/03/23
15 items of Media coverage
Press/Media
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Researchers Identify Novel Genes That May Increase Risk For Schizophrenia; Largest known study of its kind also shows risk is shared across ethnicities
Pamela Sklar, Laura Huckins & Alexander Charney
13/03/23
31 items of Media coverage
Press/Media
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Mount Sinai Health System: Researchers Identify Novel Genes That May Increase Risk For Schizophrenia
Pamela Sklar, Laura Huckins & Alexander Charney
13/03/23
1 item of Media coverage
Press/Media
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Protein-Truncating Variants Confer Schizophrenia Risk Across Human Populations
13/03/23
1 item of Media coverage
Press/Media
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Researchers Identify Novel Genes That May Increase Risk For Schizophrenia; Largest known study of its kind also shows risk is shared across ethnicities.
Pamela Sklar, Laura Huckins & Alexander Charney
13/03/23
1 item of Media coverage
Press/Media