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.

Molecular Genomics and Therapeutics Section

Jeffery Lynn Miller, M.D.

The Molecular Genomics and Therapeutics Section focuses on the molecular mechanisms responsible for diseases involving erythroid cells. Researchers apply a variety of laboratory and bioinformatic approaches to study human blood stem and progenitor cells. Section scientists correlate molecular and genomic studies from the laboratory with clinical data for disease prevention or the development of genetic and pharmaceutical therapies. Work in this section has shown that levels of growth differentiation factor 15 serve as a marker of thalassemia disease severity because they reflect ineffective erythropoiesis. Further studies of erythropoiesis have demonstrated that iron metabolism in erythroid cells is very specialized to these cells, a finding that may explain certain aspects of iron-deficiency anemia. In addition, studies of fetal hemoglobin levels among children with sickle cell disease have led to a new model for the control of this important clinical variable. The data also suggest that hematological profiles before the age of 6 months predict disease severity and the need for treatment later in life. Work of this type provides a strong example of the interplay between clinical observations and fundamental molecular biology analyses and demonstrates the benefits of employing a comprehensive approach to understanding human disease.