Dyskeratosis Congenita, Telomere Biology Disorders and the role of telomere length testing

Find out more about Dyskeratosis Congenita and Telomere Biology Disorders; what causes them, why the symptoms can vary and the importance of an accurate diagnosis. What is Dyskeratosis Congenita? Dyskeratosis Congenita (DC) is an inherited bone marrow failure syndrome that develops as a result of defective telomere maintenance. DC is therefore classed as a telomere […]

Shall we call them “telomere-mediated”? Renaming the idiopathic after the cause is found

Editorial Interstitial Lung Disease by Samantha J. Merck and Mary Armanios October 28, 2016. Over the past decade, it has become evident that abnormally short telomeres are a causal risk factor for pulmonary fibrosis in a large subset of patients. Mutations in the genes that code for the telomerase enzyme essential components are the most […]