Robert J Desnick - Genetics and Genomics

About Me

In the News

In this "Daily Check Up" feature from The Daily News, Dr. Desnick talks about treating genetic diseases.
View the PDF.

Language

English

Position

PROFESSOR & CHAIR EMERITUS | Genetics and Genomic Sciences, PROFESSOR | Pediatrics, PROFESSOR | Oncological Sciences, PROFESSOR | Obstetrics, Gynecology and Reproductive Science

Hospital Affiliations

Mount Sinai Queens
The Mount Sinai Hospital

Research Topics

Enzymology, Gene Discovery, Genetics, Genomics, Human Genetics and Genetic Disorders, Lysosomal Storage Diseases, Lysosomes/endosome, Protein Complexes, Protein Degradation, Protein Folding, Protein Structure/Function, Proteomics, Stem Cells

Multi-Disciplinary Training Areas

Genetics and Genomic Sciences [GGS]

Clinical Focus

Education

MD, University of Minnesota

Residency, Pediatrics

University of Minnesota Medical School

Certifications

American Board of Medical Genetics/Clinical Genetics

Awards

2010

Distingushed Service Award

Association of American Medical Colleges

2005

Award for Excellence in Clinical Research

National Center for Research Resources, NIH

2005

Albion O. Bernstein, MD Award for Contributions in Disease Prevention

New York State Medical Society

2004

Distinguished Alumni Award

University of Minnesota Medical School

2004

Doctor of Science, Honoris Causa

Mount Sinai School of Medicine of New York University

2004

Elected Senior Fellow,

American Association for the Advancement of Science

2004

Elected Member

Institute of Medicine of the National Academy of Sciences

2004

Jacobi Medal

Mount Sinai Alumni Association

2004

Edward H. Ahrens Jr. Award for Research

Association for Patient-Oriented Research

2003

J. Lester Gabrilove Award for Medical Research

2000

Best Doctors

New York Magazine

1999

Honorary Member

Societá Italiana di Pediatria

1992

NIH MERIT Award

1991

Correspondent Member

Societá Italiana di Pediatria

1991

Outstanding Faculty Award

Mount Sinai School of Medicine

1985

Honorary Member

Japanese Society for Inherited Metabolic Diseases

1981

E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics

1975

NIH Research Career Development Award

1973

C.J. Watson Award, University of Minnesota

1968

U.S. Public Health Service Fellowship in Genetics

Research

Using positional cloning and linkage analysis strategies, our previous efforts have resulted in the identification of several genes causing Mendelian disorders. Current research is focused on several Mendelian disorders and complex traits including Crohn’s disease, a common inflammatory bowel disease. To identify the predisposing/susceptibility genes for complex traits, genome-wide association studies using 1 million SNP-DNA arrays, candidate gene approaches, and sequencing for rare variants are being used. Studies of common complex traits will guide future predictive and preventive genetic strategies for improved, personalized health

Insurance Information

Physicians who provide services at hospitals and facilities in the Mount Sinai Health System might not participate in the same health plans as those Mount Sinai hospitals and facilities (even if the physicians are employed or contracted by those hospitals or facilities).

Information regarding insurance participation and billing by this physician may be found on this page, and can also be obtained by contacting this provider directly. Because physicians insurance participation can change, the insurance information on this page may not always be up-to-date. Please contact this physician directly to obtain the most up-to-date insurance information.

Insurance and health plan networks that the various Mount Sinai Health System hospitals and facilities participate in can be found on the Mount Sinai Health System website.

Publications

Publications:624

Selected Publications

View All Publications

Industry Relationships

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.

Below are financial relationships with industry reported by Dr. Desnick during 2024 and/or 2025. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Board Service

American Porphyrias Expert Collaborative

Consulting or Other Professional Services Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership

Mitsubishi Tanabe Pharma Development America
CRISPR Therapeutics
Disc Medicine, Inc.
Alnylam Pharmaceuticals, Inc.
Sanofi Genzyme
Recordati, LLC

Founder/Co-Founder/Partner

American Porphyrias Expert Collaborative

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.

Robert J Desnick, PhD, MD

Genetics and Genomics

About Me

Language

Position

Hospital Affiliations

Research Topics

Multi-Disciplinary Training Areas

About Me

Language

Position

Hospital Affiliations

Research Topics

Multi-Disciplinary Training Areas

Clinical Focus

Video

Education

MD, University of Minnesota

Residency, Pediatrics

Certifications

American Board of Medical Genetics/Clinical Genetics

Awards

Research

Insurance Information

Publications

Selected Publications

Industry Relationships