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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Dyskeratosis congenita


Other Names for this Disease

  • DKC
  • Hoyeraal-Hreidarsson syndrome
  • Zinsser-Engman-Cole syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Conferences


ORDR-Sponsored Conferences

  • The Spectrum of Caregiving and Palliative Care in Rare Diseases, Tuesday, June 09, 2015 - Wednesday, June 10, 2015
    Location: NIH Natcher Conference Center, Bethesda, MD
    Description: The findings and recommendations resulting from the Workshop will provide guidance to the extramural community as well as to NINR and other Institutes, Offices (e.g., ORDR), and agencies in developing strategies for advancing the science of palliative care and caregiving in rare disease and research programs. It is anticipated that a funding opportunity announcement will result from the Workshop.

  • 2013 Epithelial Differentiation and Keratinization GRC/GRS, Saturday, May 11, 2013 - Sunday, May 12, 2013
    Location: Renaissance Tuscany Il Ciocco Resort, Lucca (Barga), Italy
    Description: Novel findings in rare disease gene identification, together with studies on disease mechanisms in human patients and in mouse models, will suggest novel therapeutic approaches and form the basis for new prenatal tests. Investigators including Drs. Tolar and Oro will report on the results of bone marrow stem cell therapies and small molecule therapeutics in human patients with rare skin diseases; successful outcomes of these clinical trials will spur expansion of the use of these approaches in patients. Gene correction in patient derived iPS is an exciting potential therapeutic approach to both recessive and dominant genetic skin diseases. Drs. Roop and Christiano will provide updates on derivation and characterization of iPS from patients, and will discuss approaches to gene correction and differentiation of iPS into skin cell lineages for potential use in grafting procedures

  • RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
    Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
    Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

Other Names for this Disease
  • DKC
  • Hoyeraal-Hreidarsson syndrome
  • Zinsser-Engman-Cole syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.