Precision genome editing to study protein function

Raquel Cuella Martin (she/her)

Department of Human Genetics, McGill University

Presentation Date: 4 June 2024

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Raquel Cuella Martin is an Assistant Professor at the Department of Human Genetics at McGill University. Her lab applies cutting-edge large-scale precision genome editing to address outstanding mechanistic questions in the DNA damage response and their association with human disorders. Raquel undertook her Ph.D. studies at Dr. JR. Chapman’s lab at the Wellcome Center for Human Genetics (University of Oxford). During this time, Raquel described the mechanistic role of the DNA repair protein 53BP1 in optimal p53 tumor suppressor responses. In her postdoctoral work as an EMBO long-term fellow at the Ciccia lab (Columbia University), she used CRISPR-dependent base editing to perform genetic screens at nucleotide resolution and functionalize DNA variants at scale. Such an approach allowed her to identify loss-, gain- and separation-of-function mutations, and new functional domains in DNA damage response proteins, and to functionalize variants of uncertain significance in cancer predisposition syndromes.

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