Robert J. Desnick

Robert J. Desnick

Robert J. Desnick is an American geneticist and physician known for his contributions to the field of medical genetics. He has made significant advancements in the understanding and treatment of various genetic disorders.

Early Life and Education

Robert J. Desnick was born in Chicago, Illinois. He completed his undergraduate studies at the University of Illinois and earned his M.D. and Ph.D. degrees from the University of Minnesota.

Career

Desnick has held numerous academic and clinical positions throughout his career. He is a Professor and Chairman of the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai in New York City. His research has focused on the molecular genetics of lysosomal storage diseases, porphyrias, and other inherited metabolic disorders.

Research Contributions

Desnick's research has led to the identification of the genetic basis of several lysosomal storage diseases, including Fabry disease, Gaucher disease, and Niemann-Pick disease. He has also been involved in the development of enzyme replacement therapies for these conditions.

Fabry Disease

One of Desnick's notable contributions is his work on Fabry disease, a rare genetic disorder caused by the deficiency of the enzyme alpha-galactosidase A. His research has helped in the development of enzyme replacement therapy, which has significantly improved the quality of life for patients with this condition.

Gaucher Disease

Desnick has also made significant contributions to the understanding of Gaucher disease, a genetic disorder resulting from the deficiency of the enzyme glucocerebrosidase. His work has been instrumental in the development of treatments that have transformed the management of this disease.

Awards and Honors

Throughout his career, Desnick has received numerous awards and honors for his contributions to medical genetics. These include the E. Mead Johnson Award for Research in Pediatrics and the Rosalind Franklin Award for Excellence in Medical Research.

Professional Memberships

Desnick is a member of several professional organizations, including the American Society of Human Genetics, the American College of Medical Genetics and Genomics, and the Society for Inherited Metabolic Disorders.

Publications

Desnick has authored and co-authored over 500 scientific articles and book chapters. He has also served on the editorial boards of several prestigious journals in the field of genetics.

Personal Life

Desnick resides in New York City with his family. He continues to be actively involved in research, teaching, and clinical practice.

See Also

• Geneticist
• Medical genetics
• Lysosomal storage disease
• Fabry disease
• Gaucher disease