Dyskeratosis congenita: The first NIH clinical research workshop

Authors

  • Sharon A. Savage MD, FAAP,

    Corresponding author
    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland
    • Investigator, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH 6120 Executive Blvd., EPS/7018, Rockville, MD 20892.
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  • Inderjeet Dokal MD,

    1. Centre for Paediatrics, Barts and The London School of Medicine and Dentistry, Barts and The London Children's Hospital, Queen Mary University of London, London, United Kingdom
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  • Mary Armanios MD,

    1. Johns Hopkins University School of Medicine, Baltimore, Maryland
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  • Geraldine Aubert PhD,

    1. British Columbia Cancer Research Center, Terry Fox Laboratory, Vancouver, British Columbia, Canada
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  • Edward W. Cowen MD,

    1. Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland
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  • Demetrio L. Domingo DDS, MS,

    1. National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland
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  • Neelam Giri MD,

    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland
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  • Mark H. Greene MD,

    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland
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  • Paul J. Orchard MD,

    1. Pediatric Blood and Marrow Transplant Program, University of Minnesota, Minneapolis, Minnesota
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  • Jakub Tolar MD, PhD,

    1. Pediatric Blood and Marrow Transplant Program, University of Minnesota, Minneapolis, Minnesota
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  • Ekaterini Tsilou MD,

    1. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
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  • Carter Van Waes MD, PhD,

    1. Head and Neck Surgery Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland
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  • Judy M.Y. Wong PhD,

    1. Faculty of Pharmaceutical Sciences, Division of Pharmacology and Toxicology, University of British Columbia, Vancouver, British Columbia, Canada
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  • Neal S. Young MD,

    1. Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland
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  • Blanche P. Alter MD, MPH

    1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland
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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. Pediatr Blood Cancer 2009;53:520–523. © 2009 Wiley-Liss, Inc.

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