Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: Molecules to patients

Laura J. Niedernhofer, Vilhelm A. Bohr, Miriam Sander, Kenneth H. Kraemer

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


A workshop. 11The workshop, held in Chantilly, Virginia from 21 to 24 September 2010, was co-organized by Drs. Vilhelm Bohr (National Institute of Aging), Kenneth Kraemer (National Cancer Institute), and Laura Niedernhofer (University of Pittsburgh) and sponsored by the National Institutes of Health Office of Rare Diseases; Center for Cancer Research, National Cancer Institute; National Institute on Aging, Laboratory of Molecular Gerontology; University of Pittsburgh; The Ellison Medical Foundation; Trevigen; Xeroderma Pigmentosum Family Support Group; Fisher Scientific, Invitrogen and Integrated DNA Technologies, Inc. to share, consider and discuss the latest developments in understanding xeroderma pigmentosum and other human diseases caused by defects in nucleotide excision repair (NER) of DNA damage was held on September 21-24, 2010 in Virginia. It was attended by approximately 100 researchers and clinicians, as well as several patients and representatives of patient support groups. This was the third in a series of workshops with similar design and goals: to emphasize discussion and interaction among participants as well as open exchange of information and ideas. The participation of patients, their parents and physicians was an important feature of this and the preceding two workshops. Topics discussed included the natural history and clinical features of the diseases, clinical and laboratory diagnosis of these rare diseases, therapeutic strategies, mouse models of neurodegeneration, molecular analysis of accelerated aging, impact of transcriptional defects and mitochondrial dysfunction on neurodegeneration, and biochemical insights into mechanisms of NER and base excision repair.

Original languageEnglish (US)
Pages (from-to)340-347
Number of pages8
JournalMechanisms of Ageing and Development
Issue number6-7
StatePublished - Jun 2011
Externally publishedYes

Bibliographical note

Funding Information:
This research was supported in part by the Intramural Research Program of the NIH , National Cancer Institute , Center for Cancer Research , the Office of Rare Diseases of the NIH , the National Institute of Aging and the National Institute of Environmental Health Sciences as well as the University of Pittsburgh Cancer Institute .


  • Aging
  • Cancer
  • DNA repair
  • Mouse models
  • Neurodegeneration


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