Genetic Testing of Telomere-associated Genes in Dyskeratosis Congenita and Related Disorders
Abstract (Set) Pulmonary Fibrosis involves scarring of the lung where air sacs of the lungs become replaced by fibrotic tissue resulting in the formation of a scar and subsequent irreversible loss of the tissue?s ability to transfer oxygen into the bloodstream. Pulmonary fibrosis with an unknown cause is termed idiopathic. Idiopathic Pulmonary Fibrosis (IPF) is a serious disease effecting approximately 50,000 people in the US annually. There is currently no cure with mortality resulting generally from respiratory failure about 3 to 5 years after diagnosis. A Johns Hopkins University scientist has discovered that genes whose genetic mutations are associated with Dyskeratosis congenita (DC) and shortened telomers are associated with familial idiopathic pulmonary fibrosis (IPF). The findings support the idea that pathways leading to telomere shortening are involved in pathogenesis of IPF. Description (Set) Proposed Use (Set) This discovery provides powerful information for diagnosis, assessment of disease risk, and the discovery of tailored therapies currently unavailable for familial idiopathic pulmonary fibrosis.
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