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Title: Dyskeratosis congenita: the first NIH clinical research workshop.
Authors: Savage SA,  Dokal I,  Armanios M,  Aubert G,  Cowen EW,  Domingo DL,  Giri N,  Greene MH,  Orchard PJ,  Tolar J,  Tsilou E,  Van Waes C,  Wong JM,  Young NS,  Alter BP
Journal: Pediatr Blood Cancer
Date: 2009 Sep
Branches: CGB
PubMed ID: 19415736
PMC ID: PMC2739803
Abstract: Dyskeratosis congenita (DC) is a heterogeneous inherited bone marrow failure syndrome, characterized by abnormally short telomeres and mutations in telomere biology genes. The spectrum of telomere biology disorders is growing and the clinical management of these patients is complex. A DC-specific workshop was held at the NIH on September 19, 2008; participants included physicians, patients with DC, their family members, and representatives from other support groups. Data from the UK's DC Registry and the NCI's DC cohort were described. Updates on the function of the known DC genes were presented. Clinical aspects discussed included androgen therapy, stem cell transplant, cancer risk, and cancer screening. Families with DC met for the first time and formed a family support group (http://www.dcoutreach.com/). Ongoing, open collaboration between the clinical, scientific, and family communities is required for continued improvement in our understanding of DC and the clinical consequences of telomeric defects.