Decoding the Molecular Basis of Dyskeratosis Congenita

Decoding the Molecular Basis of Dyskeratosis Congenita

Dyskeratosis congenita (DC) is a rare inherited disease that leaves bone marrow unable to produce sufficient blood cells, often leading to premature death. The National Heart, Lung, and Blood Institute awarded U. Thomas Meier, Ph.D., a four-year, $2.38 million grant to investigate the cellular impact of DC. The researchers will focus on mutations in the gene coding for the enzyme NAP57/dyskerin; these mutations are associated with about half of all DC cases. The research may lead to therapies for DC. Dr. Meier is professor of anatomy and structural biology. (1R01HL136662-01)