Professor Emeritus and Affiliate Professor of Biogerontology
Institute of Ageing, Newcastle University, United Kingdom and University of Copenhagen
One focus of research in the Molecular Aging team is to elucidate the fundamental basis for genetic disorders in humans that are associated with the premature onset of aging in affected individuals. Several of these disorders are caused by the loss of function of genes required for DNA repair or other aspects of the maintenance of genome stability. These genes include BLM, WRN and RECQ4, all of which encode proteins from the same family of DNA repair proteins, the RecQ helicases. These genes are mutated in the human premature aging diseases; Bloom's syndrome, Werner's syndrome and Rothmund-Thomson syndrome. We combine biochemical analysis of RecQ helicases with molecular/cell biology studies of the effects of loss of function of each of these proteins. Furthermore, we study proteins that regulate the activity of these helicases, such as the Exo1 exonuclease, which plays important role in both DNA mismatch repair and double-stranded DNA break repair.