2024 MRM Talks: Dr. Raquel Cuella Martin and Júlia Cabre Romans

Webinar

The MRM Network presents: the MRM Talks. Join us to learn more about stem cells and regenerative medicine. Our webinar series will showcase prominent scientists in the field, including MRM Principal Investigators and external guest speakers.

During each seminar, we will also showcase the work of one MRM Trainee, who will present alongside our guest speaker.

In this edition of the MRM Talks:

Dr. Raquel Cuella Martin
Assistant Professor, Department of Human Genetics
Victor Phillip Dahdaleh Institute for Genomic Medicine
McGill University

“Dissecting protein function with precision genome editing screens”

MRM TRAINEE:

 

Júlia Cabre Romans,
Master Candidate in the Cuella Martin Lab,
Department of Human Genetics, McGill University

“Exploring therapeutic opportunities for Leigh Syndrome French-Canadian type”

THURSDAY, September 26, 2024
12:00 – 1:00 PM
VIRTUAL

 

Missed the presentation? You can catch up on our Youtube ChannelNOTE: This video is only available to MRM members. Please contact us at mrm@mcgill.ca to verify your status and request access to the recording.

 

About the speakers:

Raquel Cuella Martin joined the Department of Human Genetics and the Canada Excellence Research Chair in Genomic Medicine as an assistant professor in August 2022. She 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 tumour 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.
Our 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. We believe that the swift incorporation of large-scale precision genome editing into the day-to-day benchwork at the functional genomics laboratory can transform our approach to complex biological questions. We are interested in the mechanisms whereby DNA repair and checkpoint control activities are integrated, and how they coordinate to preserve cellular homeostasis and suppress tumorigenesis. In addition, we are excited about the power of precision genome editing to understand disease-associated genetic variation and to improve intelligent drug design.

Júlia Cabré Romans is an MSc student in Human Genetics at McGill University, co-supervised by Dr. Raquel Cuella Martin and Dr. Claude Bhérer. She holds a BSc in Human Biology from Pompeu Fabra University in Barcelona, Spain. Her research centers on identifying novel therapeutic strategies for Leigh syndrome, French-Canadian type, a rare monogenic metabolic disorder that manifests in infancy. Among these strategies is the development of a CRISPR-based gene therapy to correct the underlying mutation.

 

 

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