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Dyskeratosis congenita: The first NIH clinical research workshop
Author(s) -
Savage Sharon A.,
Dokal Inderjeet,
Armanios Mary,
Aubert Geraldine,
Cowen Edward W.,
Domingo Demetrio L.,
Giri Neelam,
Greene Mark H.,
Orchard Paul J.,
Tolar Jakub,
Tsilou Ekaterini,
Van Waes Carter,
Wong Judy M.Y.,
Young Neal S.,
Alter Blanche P.
Publication year - 2009
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22061
Subject(s) - dyskeratosis congenita , medicine , telomere , bone marrow failure , stem cell , blood cancer , cancer , gene , genetics , biology , haematopoiesis
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.