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

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)520-523
Number of pages4
JournalPediatric Blood and Cancer
Volume53
Issue number3
DOIs
StatePublished - Sep 2009

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Dyskeratosis Congenita
Education
Research
Telomere
Self-Help Groups
Early Detection of Cancer
Androgens
Genes
Registries
Stem Cells
Physicians
Transplants
Mutation

Keywords

  • Bone marrow failure
  • Dyskeratosis congenita
  • Telomere

ASJC Scopus subject areas

  • Oncology
  • Pediatrics, Perinatology, and Child Health
  • Hematology

Cite this

Savage, S. A., Dokal, I., Armanios, M., Aubert, G., Cowen, E. W., Domingo, D. L., ... Alter, B. P. (2009). Dyskeratosis congenita: The first NIH clinical research workshop. Pediatric Blood and Cancer, 53(3), 520-523. https://doi.org/10.1002/pbc.22061

Dyskeratosis congenita : The first NIH clinical research workshop. / 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.

In: Pediatric Blood and Cancer, Vol. 53, No. 3, 09.2009, p. 520-523.

Research output: Contribution to journalArticle

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, JMY, Young, NS & Alter, BP 2009, 'Dyskeratosis congenita: The first NIH clinical research workshop', Pediatric Blood and Cancer, vol. 53, no. 3, pp. 520-523. https://doi.org/10.1002/pbc.22061
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. / Dyskeratosis congenita : The first NIH clinical research workshop. In: Pediatric Blood and Cancer. 2009 ; Vol. 53, No. 3. pp. 520-523.
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