Congratulations to the following McGill faculty and students for their recognition at the annual meeting of the Canadian Association of Genetic Counsellors (CAGC), held last week in St. John’s, Newfoundland.

Janine El Helou, MScRecipient of the 2018 CAGC New Leader Award


Addressing barriers for rapid cancer genetic counselling: Triage system for treatment-focused genetic testing” MORGAN Amanda, WONG Nora

“Fetal sex discordance by non-invasive prenatal testing: Current practices and possible explanations” LEVY Tess, HODSON Katherine, POUCHET Carly, FITZPATRICK Jennifer McGill University Health Center, Dynacare, Montreal QC

Platform presentations:

“Incidence and carrier frequency of Tay-Sachs disease in French-Canadians from Quebec: a retrospective analysis covering 24 years (1992-2015)” SILLON Guillaume, ALLARD Pierre, DRURY Stella, DE BIE Isabelle

“A familial investigation of recurrent Osteogenesis Imperfecta over three decades”


Scientific Planning Committee Co-Chair

Laurence Baret, MA, MSc

Congratulations, all!

In Memoriam: Dr. Geoffrey Hendy (1947 – 2018)

It is with great sadness that we share the news of the passing of Dr. Geoffrey Hendy, Professor in the Department of Medicine at McGill University and a senior scientist in the Metabolic Disorders and Complications Program at the Research Institute of the McGill University Health Centre (RI-MUHC).

A native of the United Kingdom, Dr. Hendy obtained his PhD in England in the laboratory of Dr. Jeffrey L.H. O’Riordan at the Middlesex Hospital in London. He would go on to complete his postdoctoral training at Harvard and the Massachusetts Institute of Technology before being recruited to the Calcium Laboratory of the Division of Endocrinology and Metabolism in the Department of Medicine at McGill in 1985.

At McGill, Dr. Hendy’s laboratory studied the molecular genetics of mineral metabolism disorders with a focus on functional analysis of inherited mutations in genes controlling calcium and skeletal homeostasis, and particularly genes encoding the calcium sensing receptor and menin (the Multiple Endocrine Neoplasia type 1 gene product).

Dr. Hendy was a passionate researcher driven by science and discovery. He remained engaged in these pursuits until his final week. Described as possessing a sense of humour typical of 1960s British school boys as well as a keen interest in British Blues music, when it came to his work Dr. Hendy was known for his creativity and compulsive attention to detail. Combined with great perseverance, he harnessed these traits into a remarkable ability to take even a sloppily-written manuscript and transform it into something professional and publishable. He made many outstanding contributions to science over the course of his career while enjoying an exemplary international reputation in his field.

Dr. Hendy was also very active as an educator at McGill, teaching and mentoring students in the Departments of Human Genetics and Medicine and was a popular choice for undergraduate students when first choosing a laboratory for their practicum. Dr. Hendy also served as a mentor to numerous graduate students and started them on successful research careers, as well as serving as an Academic Advisor for many others.

Dr. Hendy devoted his life to science and teaching. While he was a private person, he was generous with his time and his knowledge and made an impact on his colleagues and numerous trainees at all levels, helping to shape the careers of many. A celebration of his life was held at the RI-MUHC on September 29.

Our condolences go out to his family, friends and colleagues. He will be missed by all. (med e-news)

Dr. Nada Jabado elected as Fellow of the Canadian Academy of Health Sciences

Dr. Jabado was one of 6 members of McGill’s Faculty of Medicine to receive this award, one of the highest honours for individuals in the Canadian health sciences community. Elections are based on a nominating and peer review process that seeks to recognize those who are marked by a record of substantial accomplishment.

Dr. Jabado was the first to identify a histone mutation in human disease, thereby generating a paradigm shift in understanding the biology of cancer. Her landmark papers demonstrate a direct effect of epigenetic dysregulation during development in the causal origin of fatal brain tumors in children and young adults. Her novel approach has fundamentally advanced cancer research by focusing on the role of the epigenome in cancer genesis and progression. Read more here.

No-Nonsense Approach to Genetic Kidney Disease in Children

The Research Institute of the McGill University Health Centre’s (RI-MUHC) push to treat a rare genetic disease in children – with a higher percentage found in French Canadians – has received a $2 million as part of a national genomic contest led by Génome Canada.

Dr. Paul Goodyer’s team at the RI-MUHC is at the forefront of North American efforts to develop a novel drug for nephropathic cystinosis, a disorder that is 10 times more prevalent in Québec. Without treatment, all affected children require kidney transplantation and survival beyond the age of 30 is rare. Read more here.

Disease causing mutation found in French-Canadians

A team of Canadian scientists, including researchers at the Montreal Neurological Institute and Hospital (The Neuro) has discovered the first French-Canadian founder mutation gene linked to synucleinopathies, a group of neurodegenerative diseases that includes Parkinson’s disease (PD), dementia with Lewy-Bodies (DLB) and multiple system atrophy (MSA).

“We don’t know how frequent this mutation is in the general French-Canadian population, but it doesn’t appear to be very common. We’re going to test additional subjects so we can determine its exact frequency,” says Dr. Ziv Gan-Or, a genetics researcher at The Neuro and the study’s lead author. “This mutation causes Gaucher’s disease, so it has clinical importance for couples who want to have children. They can request genetic screening for this specific gene mutation.” Read more here.

Dr. Eric Shoubridge reappointed Chair, Department of Human Genetics

We are delighted to announce the re-appointment of Dr. Eric Shoubridge to the position of Chair of the Department of Human Genetics, Faculty of Medicine, McGill University. Dr. Shoubridge originally took on this role in 2013 and has successfully led and grown the Department over the course of his first term.

A two-time McGill graduate (BSc and MSc), Dr. Shoubridge completed his PhD at the University of British Columbia in 1981 and his post-doctoral training at Oxford prior to joining the Montreal Neurological Institute (MNI) in 1985. Dr. Shoubridge is a James McGill Professor, as well as a Professor of Human Genetics and of Neurology and Neurosurgery. In 2015, he was named Isaac Walton Killam Chair in Neurology and Neurosurgery. At the MNI he is a member of the Rare Neurological Diseases and Neurodegenerative Diseases research groups.

Dr. Shoubridge’s laboratory at the MNI focuses on the molecular genetics of mitochondria and the identification and characterization of mitochondrial disease genes. His lab developed the first animal models to investigate the transmission and segregation of mtDNA, pioneered functional cloning methods to identify the genetic defects in individual patients with autosomal recessive mitochondrial disease, and incorporated next generation sequencing methods to rapidly identify the spectrum of genetic mutations associated with these disorders. His lab is now using proteomic tools to characterize the mitochondrial protein interactome, with a view to discovering the networks where individual proteins work, and to investigate how these networks are altered in disease states.

Dr. Shoubridge has published widely on mitochondrial disease with over 150 peer-reviewed articles, book chapters, reviews and editorials to his name. Among his honours and awards, he has been an International Research Scholar of the Howard Hughes Medical Research Institute and a Senior Investigator of the Canadian Institutes of Health Research (CIHR). He currently holds research grants from the CIHR, the Muscular Dystrophy Association, and the United Mitochondrial Disease Foundation, among others.

Dr. Shoubridge was the recipient of the Jacob’s Ladder award for outstanding research in Neurogenetics in 2006, the Established Investigator Award from the MNI in 2009, and the Champion of Genetics Award from the Canadian Gene Cure Foundation in 2012. Dr. Shoubridge was elected as a Fellow of the Royal Society of Canada in 2004 and named a Fellow of the Canadian Institutes for Advanced Research in 2006.

As Chair of McGill’s Department of Human Genetics, Dr. Shoubridge provides leadership to continue its tradition of excellence in teaching and research. As part of the Faculty Leadership Council, he advises the Dean on all academic matters pertaining to the Department, while continuing to pursue his own successful research program. Additionally, he oversees the recruitment of leading scientists to the Department.

Please join us in congratulating Dr. Eric Shoubridge on his re-appointment and in wishing him the greatest success in continuing to build on the Department’s excellence and enhance its outstanding international reputation.

Dr. David Eidelman
Vice-Principal (Health Affairs)
Dean of the Faculty of Medicine
Dr. Lesley Fellows
Vice-Dean, Academic Affairs


Dr. Aimee Ryan appointed Associate Dean, Biomedical BSc, Graduate and Postdoctoral Affairs

We are pleased to announce the appointment of Dr. Aimee Ryan to the position of Associate Dean, Biomedical BSc, Graduate and Postdoctoral Affairs, in the Faculty of Medicine at McGill University.

Dr. Ryan takes over from Dr. Elaine Davis who for two years as Assistant Dean, Graduate Studies and then for two terms in the expanded Associate Dean role, initiated new programs, resolved problems and facilitated communication for over 4,000 postdoctoral fellows, and undergraduate and graduate students. She participated in the creation of many successful new graduate programs, ensuring continual improvement of the quality of education and research in the Faculty. Dr. Davis led the Faculty’s graduate support programs, in which she was responsible for fund distribution and allocation, and participated in award granting. We would like to take this opportunity to thank Dr. Davis for her outstanding contributions during the past decade and wish her ongoing success.

Dr. Ryan received her BSc in Genetics in 1985 from the University of Manitoba. She followed this with an MSc in Human Genetics in 1988 and a PhD in Biochemistry in 1994, both at Queen’s University. She then held a Postdoctoral Fellowship at the University of California, San Diego from 1994 to 2000.

Dr. Ryan joined McGill’s Faculty of Medicine in 2000 as an Assistant Professor in the Department of Pediatrics. She became Associate Professor of Pediatrics in 2010 and Associate Professor of Human Genetics in 2014. From 2013 to 2018 she was the Graduate Program Director in the Department of Human Genetics. She is currently Interim Deputy Executive Director and Deputy Chief Scientific Officer (CSO) and Interim Head of Child Health Research at the Research Institute of the McGill University Health Centre.

Dr. Ryan’s own research focuses on morphogenesis, the process that drives organ formation in early embryonic development. Her laboratory is currently investigating the role of the claudin family of genes in the development of the left-right axis, neural tube closure, kidney development and the blood-testis barrier. She is the recipient of research grants from, among others, the Kidney Foundation of Canada, the Canadian Institutes of Health Research and the Natural Sciences and Engineering Research Council.

Reporting directly to the Vice-Principal (Health Affairs)/Dean, as Associate Dean Dr. Ryan will be a liaison to the Dean of Graduate and Postdoctoral Studies (GPS) and the Faculty’s academic departments and schools. She will provide strategic guidance and oversight to the Faculty’s graduate programs and represent the educational interests of the biomedical science programs at the Education Leadership Council. She will also develop and implement interdisciplinary initiatives and oversee activities to ensure that the needs and priorities of the Faculty of Medicine are met with respect to education and training of students and postdocs in the biomedical BSc, and graduate and postdoctoral programs, including the MDCM & PhD program and the new BSc/MSc thesis track program.

Dr. Ryan will manage the annual allocation of GPS funding (over $4 million) to the individual graduate programs and various competitions, and provide strategic guidance for the use of these funds to enhance recruitment and retention. She will also organize and chair Graduate Program Directors and Graduate Program Coordinators meetings to discuss procedural issues, new policies and initiatives.

Please join us in congratulating Dr. Ryan and wishing her every success as she embarks on her new role.


Dr. David Eidelman
Vice-Principal (Health Affairs)
Dean of the Faculty of Medicine
Dr. Lesley Fellows
Vice-Dean, Academic Affairs

Dr. Anna Naumova – New Graduate Program Director, Department of Human Genetics

I am pleased to announce that Anna Naumova has agreed to take over the position of Graduate Program Director (GPD). Anna has served on the Graduate Training Committee for a number of years, and I am sure that she will take over seamlessly where Aimee left off. Please join me in welcoming Anna to this important position in our Department.

Sincerely, Eric Shoubridge, Ph.D. Chair, Department of Human Genetics



February 19th, 2010

Interim Vice-Principal Research and International Relations

I am pleased to announce the appointment of Professor Rima Rozen as Interim Vice-Principal (Research and International Relations), effective March 1st, 2010. In this position, she will report directly to the Principal and Vice-Chancellor and will serve as a member of the University’s senior team until a successor to Professor Thérien is appointed. I am most grateful to Professor Rozen for her willingness to serve in this capacity.

A distinguished professor in the Human Genetics, Pediatrics and Biology departments and a James McGill Professor, Rozen served previously as Scientific Director of the Montreal Children’s Hospital of the McGill University Health Centre (MUHC) and Deputy Scientific Director of the MUHC Research Institute. She established the Montreal Children’s Hospital’s Molecular Genetics Diagnostics Service, a pre-eminent DNA analysis centre. Professor Rozen is recognized for her research in the genetics-nutrition field and continues to direct her laboratory at the Montreal Children’s Hospital.



February 22, 2010 – 7:30 p.m.

The Scriver Family Visiting Professorship Public Lecture

“Genetics and the Future of Medicine”



A recent article by Constatin Polychronakos and Ken Dewar (et al.) was published in this week’s issue of nature: International weekly journal of science.


sladekHuman Genetics faculty member, Rob Sladek is co-author of an article in nature: International weekly journal of science. His research was also featured by the Montreal Gazette earlier this week.


Scriver DSR pic