Human DNA Damage Response Disorders Group
Our principal interest is the study of the response to and repair of DNA damage in human cells, but 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. For example, 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 employ primary material derived from individuals with these conditions as clinically relevant research tools to study the underlying molecular pathways they are defective in.
Our research work is currently funded by: