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Diseases

Genetic and Rare Diseases Information Center (GARD)

Xeroderma pigmentosum, variant type


Other Names for this Disease
  • Xeroderma pigmentosum with normal DNA repair rates
  • Photosensitivity with defective DNA synthesis
  • XPV
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

News & Events


ORDR Co-Sponsored Conferences

  • 2016 Rare Disease Day at NIH, Monday, February 29, 2016
    Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
    Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.

  • DNA Polymerases: Biology, Diseases and Biomedical Applications, Sunday, August 31, 2014 - Thursday, September 04, 2014
    Location: Robinson College, University of Cambridge, Cambridge, England
    Description: This meeting will bring together scientists from different fields and to facilitate interaction and collaboration. It will involve scientists from basic research, industry and clinicians. The underlying goals of this meeting are to identify new avenues of investigation, to define therapeutic strategies for the maintenance of genomic integrity, to stimulate collaborations, and to foster the long-term development of this critical research area.

  • Xeroderma Pigmentosum, Trichothiodystrophy, and Related Disorders of DNA Repair and Aging, Tuesday, September 21, 2010 - Friday, September 24, 2010
    Location: Westfields Marriott Dulles Conference Center, Chantilly, VA

  • Xeroderma Pigmentosum and other Diseases of Human Premature Aging and DNA Repair: Molecules to Patients, Tuesday, September 05, 2006
    Location: National Conference Center, Lansdowne, VA
    Description: This meeting was a follow-up of one held in 2004. The purpose of this workshop was to gather leading scientists and clinicians in this very active area of research. The clinical and mechanistic aspects of Cowden's syndrome (CS) and related DNA repair/transcription defective disorders such as xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) were explored. Our goals were to develop new multidisciplinary collaborations, interactions, and relationships that can lead to a greater understanding of the pathophysiological mechanisms involved in these disorders and to conceive new therapeutic strategies for their treatment.

Other Names for this Disease
  • Xeroderma pigmentosum with normal DNA repair rates
  • Photosensitivity with defective DNA synthesis
  • XPV
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.