Studies in this laboratory are designed to elucidate the role of DNA repair processes in carcinogenesis and in neurodegeneration. Most studies have been conducted with cells from patients with xeroderma pigmentosum (XP), who have defective DNA repair plus multiple cutaneous malignancies and premature aging of sun-exposed skin and of the nervous system. Cells from patients with primary neuronal and retinal degenerations are also being studied. These diseases include Cockayne syndrome, ataxia telangiectasia, Alzheimer disease, Parkinson disease, Huntington disease, and retinitis pigmentosa. These studies are designed to elucidate the pathogenesis of these disorders and to develop diagnostic tests. We assess the biological effectiveness of DNA repair by: 1) in vitro assays of cell survival after treatment of the cells with DNA-damaging agents; 2) analysis of chromosomal and chromatid aberrations in cells treated with DNA-damaging agents; and 3) determining DNA repair within defined genes as well as in the genome overall.
