Xeroderma pigmentosum, variant type
Other Names for this Disease
- Photosensitivity with defective DNA synthesis
- Xeroderma pigmentosum with normal DNA repair rates
News & Events
ORDR Co-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.
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.
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.
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
VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , Thursday, March 18, 2010 - Saturday, March 20, 2010
Location: Palais Rouge Convention Center, Palermo, Buenos Aires, Argentina
Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
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.