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Human DNA Damage Response Disorders Group

Our interest is the study of the response to and repair of DNA damage in human cells, particularly the variety of diverse human conditions that are defective in these pathways. We are interested in elucidating and understanding genotype-phenotype relationships associated with defects in the DNA damage response network. Our aim is to understand how a defective DNA damage response can result in a plethora of apparently unrelated clinical features in humans including malignancy, microcephaly, growth retardation, immunodeficiency and even intellectually disability (e.g. see https://www.omim.org/  Van Esch-O'Driscoll Syndome; VEODS). We also study how DNA repair pathways cross-talk with the RTK-PI3K-mTOR network and how the Cyclophilin family of cis-trans peptidyl prolyl isomerases mediate genome stability, with a view to manipulating these relationships for therapeutic benefit against specific cancers. We employ primary human material as clinically relevant research tools.