Why better health care depends on improving data sharing


The future of personalized medicine is dependent on data sharing, according to Yann Joly, Research Director of the Centre of Genomics and Policies (right); and Guillaume Bourque, Director of the Canadian Centre for Computational Genomics.

Using big data techniques to analyze the function of human genes is already helping develop treatments tailored to individual patients. The more data researchers can access from across the world, the better chances of treating even rare diseases. But privacy and consent regulations differ by country, making sharing this information across borders slow and frustrating.

Researchers at McGill, in partnership with their international and Canadian colleagues, are developing new tools and frameworks to solve this problem, so that scientists anywhere in the world can openly contribute and access information.

We sat down to talk epigenetics, open science and personalized medicine with Guillaume Bourque, Director of the Canadian Centre for Computational Genomics, and Yann Joly, Research Director of the Centre of Genomics and Policies.

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McGill team part of international group of scientists that identify rare pediatric brain disorder

Susan Schwartz, Montreal Gazette

Emily Standen’s pregnancy was uneventful, but it was clear as soon as her daughter Mathilde Poliquin was born, in January of 2013 at the McGill University Health Centre‘s Royal Victoria Hospital, a month early, that there was a problem.

A pediatrician popped his head into the room and said, “I need to speak to the father.” Gabriel Poliquin remembers being told, “Something is wrong. We don’t know what it is.”

The baby was immediately transferred to the neonatal intensive care unit of the Montreal Children’s Hospital. Her head was smaller than normal and her neurological exam was “very abnormal,” recalled MUHC pediatric neurologist Geneviève Bernard, and she had severe epilepsy.

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Designing precision tools to mine DNA data

Ludmer Centre Scientific Director Celia Greenwood secured over $600K in funding for new research, Precision Medicine in Cellular Epigenomic, from the recent Genome Canada competitions.

To understand brain development, researchers need to unlock the secrets of our DNA. Currently, we can collect data on multiple aspects of DNA, but to extract meaning from the ever-expanding data trove requires the right tools: sophisticated algorithms and software applications that automate complex analytical processes at the push of a button. Building these tools takes a highly skilled, transdisciplinary team. Funded by a new three-year Genome Canada Bioinformatics and Computational Biology grant, Dr Celia Greenwood has brought together a team of experts to advance tool-development for processing DNA methylation data. The end goal of the research program is to develop tools that will impact research across multiple disorders, physical and mental.

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Isabella Straub – McGill MedStar Award

For her publication entitled “Loss of CHCHD10–CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS “, Ph,D. candidate, Isabelle Straub (Supervisor: Dr. Eric Shoubridge) has been chosen to receive a McGill MedStar Award in recognition of the excellent research carried out in the Faculty of Medicine at McGill University. Congratulations, Isabella!

McGill genomics research projects to receive $10M in federal, provincial funding

Major federal and provincial investments in genomics research were announced this week following three recent Genome Canada competitions. The announcement, made at University of Guelph, includes over $10 million in funding to seven projects led by McGill researchers.

A team led by McGill professors Mathieu Blanchette, Jacek Majewski and, Jérome Waldispühl will create and release improved computational and statistical tools for analyzing 3D data in their native 3D context. Their new tools will be integrated with the team’s 3D visualization platform that will help scientists explore the data, build new hypotheses and test them in rigorous statistical frameworks. The results of this project will be made widely available through open-source software that will enable statistically robust analysis of individual and groups of 3D genomic data; provide a virtual reality-based 3D genome browser supporting integrated visualization of genomic data; and include a toolset for integrative mining of genomic and epigenomic data in their 3D genome context. A lay version of the visualization platform will also be used for community outreach through exhibits in schools and museums.  Read more here.

McGill researchers among recipients of $34 million grant to combat cancer

Researchers from McGill’s Faculty of Medicine and the Research Institute of the McGill University Health Centre (RI-MUHC) in Montreal are part of a multinational team led by the University of California, San Francisco (UCSF), whose project was recently selected for funding through Cancer Research UK’s (CRUK) Grand Challenge competition — an international funding initiative that aims to address some of the biggest global challenges in cancer research. The multidisciplinary team will receive 20 million British pounds (nearly 34 million Canadian dollars) over four years to explore the links between chronic inflammation and cancer.

The project, known as STrOmal ReprograMing (STORMing Cancer) Provides New Directions to Prevent and Revert Chronic Inflammation, aims to find novel ways of treating cancer caused by inflammation and to develop new options to prevent cancer from developing in high-risk patients with chronic inflammatory diseases. 

“I am thrilled to be part of this world-class cancer research hub, along with colleagues from the RI-MUHC and McGill,” said co-investigator Dr. Lorenzo Ferri, David S. Mulder Chair in Surgery at McGill and a clinician-scientist from the Cancer Research Program at the RI-MUHC. “This grant will allow us to examine cancer from a different angle. Rather than solely studying the mutations in cancer cells, as we’ve been doing for decades, the STORMing Cancer project will aim to identify the signals and drivers of chronic inflammation that result in alterations to the protein and cellular “scaffolding” supporting tissues ultimately leading to cancer.”  Read more here.

Shared genetic marker offers new promise in targeting specific ovarian and lung cancers

Two new papers, published simultaneously in Nature Communications and led by researchers at McGill University, offer promise that a drug currently used to treat estrogen positive breast cancer may be effective in treating two different types of cancer, one rare and one common form.

The breakthrough discovery launching this research came in 2014 when Dr. William Foulkes, James McGill Professor in the Departments of Medicine, Oncology and Human Genetics at McGill’s Faculty of Medicine and a medical geneticist at the McGill University Health Centre (MUHC), showed that small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), a rare but highly fatal cancer which primarily strikes younger women, is caused by mutations in the gene SMARCA4.  Read more here

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