Neal S. Young

Introduction: Telomere biology disorders (TBDs) are characterized by abnormal telomere maintenance and a clinically heterogenous phenotype, including marrow failure, pulmonary fibrosis, cirrhosis, and malignancy predisposition. Treatment op…

Telomere biology disorders (TBDs) caused by germline variants in TINF2 are a common cause of severe disease presenting in early childhood. Progressive bone marrow failure in patients with TBDs is often treated with androgens, known to impro…

BACKGROUND: Genetic defects in telomere maintenance and repair cause bone marrow failure, liver cirrhosis, and pulmonary fibrosis, and they increase susceptibility to cancer. Historically, androgens have been useful as treatment for marrow …

Abstract Telomeres, the terminal complex of hexameric repeats and shelterin protein of linear chromosomes, shorten with every mitosis. Telomere attrition is accelerated in patients with mutations in telomerase complex genes (Calado and Youn…