The unanticipated early origins of childhood brain cancer

24-August-12
Canadian researchers identify earliest traces of brain cancer long before the disease becomes symptomatic

Brain tumours are the leading cause of non-accidental death in children in Canada, but little is known about when these tumours form or how they develop. Researchers from SickKids, the Ontario Institute for Cancer Research (OICR) and McGill University, have recently identified the cells that are thought to give rise to certain brain tumours in children and discovered that these cells first appear in the embryonic stage of a mammal’s development – far earlier than they had expected.

Their findings, published today in Nature, could lead the way to the discovery of better treatments to attack these lethal tumours.

“The brain is extraordinarily complex. These findings are not only important for better understanding brain tumours but they will also allow us to learn more about these cells and how they work, in order to help children with neurodevelopmental delays. What we have accomplished as a team in this study brings hope for patients,” says co-lead of the study,  Dr. Nada Jabado, paediatric hemato-oncologist and senior scientist at the Research Institute of the McGill University Health Centre and a professor of Pediatrics and Human genetics at McGill University.  Read more here.

Québec siblings with rare orphan disease lead to discovery of rare genetic diseases

Discovery of mutations in ACTL6B gene offers insight into brain development

Mutations in a gene involved in brain development have led to the discovery of two new neurodevelopmental diseases by an international team led by researchers at McGill University and CHU Sainte-Justine Research Center.

The first clues about the rare disorder arose after doctors were unable to diagnose why two siblings from Québec City were experiencing seizures and neurodevelopmental deficits. Desperate, the children’s family turned to Carl Ernst at the Douglas Mental Health University Institute in Montreal for answers.

Ernst, who is also a professor in McGill’s Department of Psychiatry, and his team used harvested skin cells from the toddlers and “reprogrammed” them to assume a stem cell-like state—induced pluripotent stem cells (iPSC). By making neurons from the iPSCs and comparing them to those of healthy individuals, the researchers found that they did not develop properly. Upon further investigation, they discovered a potential culprit: the family carried a mutation in ACTL6B – an epigenetic regulator implicated in neuronal development.

Read more here.


Q&A with Vincent Mooser, Canada Excellence Research Chair in Genomic Medicine

We are at the dawn of something really big in medicine and I want to be a part of it. I want to make my small contribution to the greater effort

Bartha Knoppers awarded 2019 Friesen Prize

McGill professor Bartha Knoppers, a global leader in the study of legal, social and ethical issues related to biomedical research in human genetics and genomics, has been awarded the 2019 Henry G. Friesen International Prize in Health Research by the Friends of Canadian Institutes of Health Research (FCIHR).

Dr. Knoppers is “one of the most prolific and innovative health policy researchers in Canada and beyond,” FCHIR said in announcing the award. “She has been a leader in the interface of ethics and law, as applied to health research policy, stem cell research, human gene editing, biobanking and global data sharing. Bartha is also a brilliant science communicator and public figure, who gives generously of her time for social good.”

Dr. Knoppers is Professor of Medicine, Department of Human Genetics, with appointments in Law and Biomedical Ethics at McGill and is also Director, Centre of Genomics and Policy at McGill and Canada Research Chair in Law and Medicine.

Read more here.


Bravo Gala 2019

Members of the Department of Human Genetics, Dr. David Rosenblatt, Dr. Nada Jabado and Dr. Hamed Najafabadi,   were among those honored at McGill’s 2019 Bravo Gala. The annual event, hosted by McGill’s Research and Innovation, welcomed approximately 250 guests, including researchers and their families and friends, faculty members, students, as well as members of McGill’s academic leadership – all of whom came together to celebrate researchers and scholars across disciplines who won major provincial, national and international prizes and awards in 2018.  Read more here.


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.

Read more here


 

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