Monnat, Ray

Genetic stability mechanisms: We work on a small human gene family, the RECQ helicases, that play key roles in nucleic acid metabolism and genome stability assurance. Loss of function of three different RECQ proteins, WRN, BLM or RECQ4, is associated with the heritable genetic instability/cancer predisposition diseases Werner, Bloom and Rothmund-Thomson syndromes. Aberrant expression or loss of RECQ expression appears to be common in many types of human cancer, and may influence both cancer risk and the response to chemotherapy. Our research is focused on in vivo functions and functional redundancy between different RECQ proteins, and on RECQ helicases as a novel class of cancer therapeutic biomarker and target.

Genome engineering: Homing endonucleases are highly site-specific endonucleases that catalyze the lateral transfer of parasitic DNA elements in all Kingdoms of life. We are engineering well-characterized members of one of the homing endonuclease families, the LAGLIDADG homing endonucleases, as novel gene-specific reagents for use in living cells. Our applications projects involve the targeted correction of disease-causing mutations in human iPS cells, and germline genetic engineering in Anopheles mosquitos to prevent the transmission of malaria.