NIH R01 · 2025
Rewiring of RNA Polymerase II in a Novel Taspase1- Mediated Marrow Failure.
(PLEASE KEEP IN WORD, DO NOT PDF) Inherited Bone Marrow Failure Syndromes (IBMFS) constitute a rare set of disorders leading to an inability to generate functional circulating blood cells leading to morbidity and mortality. Many of these disorders are accompanied by pleiotropic developmental disorders. To date, we still lack definitive cures beyond highly toxic hematopoietic stem cell transplant. Decades of prior work has advanced our knowledge on these diseases and the fundamental roles that mutated causative genes play in normal hematopoiesis. However, nearly half of patients with IBMFS lack a clear genetic etiology, demonstrating the essential knowledge gap to understand genetic…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.