U.S. Department of Health and Human Services

Genetics of Development and Disease Branch

Richard L. Proia, Ph.D., Chief


Genetic Disease Research Section

Richard L. Proia, Ph.D.

The Genetic Disease Research Section studies sphingolipids, lipid molecules that form cell membranes and transmit signals to cells. Inherited defects in their metabolism cause rare neurodegenerative disorders in children such as Tay-Sachs disease. Our work is aimed at understanding how these lipids function normally and during diseases, and how we can harness their pathways for new therapies.

Mammalian Genetics Section

Chuxia Deng

The Mammalian Genetics Section studies mammalian development and tumorigenesis using animal models. One of the major interests is the functions of the breast tumor suppressor gene, Brca1, in mammary gland development, transcriptional regulation, cell cycle checkpoints, DNA damage repair, and tumor formation.