Our Science – Kraemer Website
Kenneth H. Kraemer, M.D.
DNA Repair in Human Cancer-Prone Genetic Diseases
We are investigating the role of DNA repair in prevention of cancer and in human development. The
approach involves integrated clinical, molecular, and translational investigations of disorders with
defective DNA repair. Current studies are focusing on two rare genetic diseases: xeroderma
pigmentosum (XP) a cancer prone genetic disease with cellular hypersensitivity to ultraviolet radiation
(UV) and defective DNA repair and trichothiodystrophy (TTD) a disorder with developmental
abnormalities and defects in some of the same genes as XP without increased cancer risk. The long
term goals are to: 1) define the molecular defects in these diseases, 2) characterize their clinical
abnormalities and extent of phenotypic heterogeneity, 3) correlate the molecular defects with clinical
abnormalities, 4) assess the altered molecular function, 5) identify and characterize the underlying
mechanisms (pathophysiology) and how they lead to clinical disease and 6) influence these processes
by exploring methods of cancer prevention
Collaborators on our research include Margaret Tucker, GEB, DCEG, NCI, Brian Brooks, NEI, Carmen Brewer NIDCD
This page was last updated on 11/25/2013.