Our principal interest is the study of the response to and repair of DNA damage in human cells, particularly the variety of human conditions that are defective in these pathways. Specifically, we are interested in elucidating and understanding genotype-phenotype relationships associated with defects in the DNA damage response. Our work attempts to understand how and why 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. We also study various DNA repair pathways and their cross-talk with the RTK-PI3K-mTOR network, with a view to manipulating these relationships for therapeutic benefit. We employ primary human material as clinically relevant research tools.


Human DNA Damage Response Disorders Group Site