NIH R01 · 2025
Molecular Genetics of the Telomere Biology Disorders
The telomere biology disorder (TBD) dyskeratosis congenita (DC) and its severe variants are childhood onset, multisystem disorders caused by impaired maintenance of the ends of chromosomes known as telomeres. Bone marrow failure (BMF) is a major threat to life, occurring in 50-80% of affected individuals by age 30. The long- term objectives of this project are to elucidate the mechanisms by which mutations in the genes associated with the TBDs lead to telomere shortening and to discover how this shortening can be slowed or, better yet, reversed. With this knowledge, we will meet our long-term goal of identifying novel treatment avenues that target telomeres for these life-threatening…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.