Dyskeratosis congenita: The first NIH clinical research workshop

Sharon A. Savage, Inderjeet Dokal, Mary Armanios, Geraldine Aubert, Edward W. Cowen, Demetrio L. Domingo, Neelam Giri, Mark H. Greene, Paul J. Orchard, Jakub Tolar, Ekaterini Tsilou, Carter Van Waes, Judy M Y Wong, Neal S. Young, Blanche P. Alter

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59 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)520-523
Number of pages4
JournalPediatric Blood and Cancer
Issue number3
StatePublished - Sep 2009


  • Bone marrow failure
  • Dyskeratosis congenita
  • Telomere


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