title: Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: molecules to patients.
abstract: A workshop(1) 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.
authors.affiliation: University of Pittsburgh, Pittsburgh, PA, United States.
authors.forename: Laura J
authors.initials: LJ
authors.lastname: Niedernhofer
authors.forename: Vilhelm A
authors.initials: VA
authors.lastname: Bohr
authors.forename: Miriam
authors.initials: M
authors.lastname: Sander
authors.forename: Kenneth H
authors.initials: KH
authors.lastname: Kraemer
mesh_terms: D019588:Aging, Premature / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D000818:Animals; D003226:Congresses as Topic; D004260:DNA Repair; D004195:Disease Models, Animal; D006801:Humans; D051379:Mice; D014768:Virginia; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000628:therapy