Heartiest Congratulations to Dr. Charles Robert Scriver for being named the recipient of the Victor A. McKusick Leadership Award, 2015.
“The American Society of Human Genetics (ASHG) has named Charles R. Scriver, MD, Alva Professor Emeritus of Human Genetics, and Professor of Pediatrics, Biochemistry (Associate), Biology (Honorary), and Human Genetics at McGill University; as the 2015 recipient of the annual Victor A. McKusick Leadership Award.
Dr. Scriver has worked at McGill University in Montreal for more than 50 years, having founded the deBelle Laboratory for Biochemical Genetics in 1961. He has dedicated his career as a clinician-scientist to discovering, training, treating, and educating the public about inherited metabolic and other genetic diseases.
After a year of clinical work at Children’s Medical Center, Harvard, followed by two years in the laboratory at University College Hospital Medical School, London, Dr. Scriver unexpectedly encountered a recurrent seasonal epidemic in Quebec, which affected thousands of infants and children with Vitamin D deficiency. Along with colleagues, he instituted a combination of epidemiological, regulatory, economic, political, demographic, and cultural approaches to address the problem. Over the following years, he studied inborn errors of metabolism in the newly created deBelle Laboratory, where he and colleagues discovered of a variety of inborn errors affecting enzymes, metabolic pathways, and membrane transport systems in humans.”
Passing of Dr. Richard Cotton (1940-2015)
A great loss to so many, including all associated with Human Mutation, which he co-founded.
“Professor Cotton had a long and distinguished career as both an innovative researcher and a driver of action towards preventing and treating genetic disorders and birth defects. As a researcher, he was instrumental in the development of techniques to produce monoclonal antibodies and, his diagnostic techniques and research into diseases such as Phenylketonuria have been fundamental to the early detection of affected individuals which has lead to often life-saving interventions and the prevention of further disease progression. He was a pioneer in the field of Mutation Detection, developing methods for the chemical and enzymatic detection of human genetic mutations. Professor Cotton was one of the first to recognize the need to document the extent of all human genetic variation in order to investigate, treat and prevent human disease. As the founder and Scientific Director of the Human Variome Project, he had led the world in developing ways to collect, curate, interpret and share information on the genetic changes that underlie both inherited and complex disease. By working with clinicians, diagnostic labs and national governments to make information on genetic variations and their effect on patients freely and openly available, the Human Variome Project is enabling universal access to knowledge that can be used to prevent, diagnose and treat all human disease”.lonal antibodies and, his diagnostic techniques and research into diseases such as Phenylketonuria have been fundamental to the early detection of affected individuals which has lead to often life-saving interventions and the prevention of further disease progression. He was a pioneer in the field of Mutation Detection, developing methods for the chemical and enzymatic detection of human genetic mutations.
Dr. René St-Arnaud, Associate Faculty Member, appointed as Director of Research of Shriners Hospital
Congratulations to Dr. René St- Arnaud for his appointment as Director of Research of Shriners Hospitals for Children® – Canada. Appointed Acting Director of Research in 2011, Dr. St-Arnaud also holds cross-appointments as a tenured Full Professor of Medicine, Surgery, and Human Genetics at McGill University, where he is also cross-appointed to the Faculty of Dentistry.
2015 Archibald Garrod Award Winner – Dr. Yannis Trakadis
The annual Archibald Garrod Award is given by the SSIEM to the lead author of studies that provide a comprehensive, representative analysis of the clinical features, treatment and outcome of an inborn error of metabolism, published in the preceding year in the Journal of Inherited Metabolic Disease, JIMD.
Congratulations to Dr. Yannis Trakadis, Medical Geneticist & Metabolics Physician, Assistant Professor, Department of Human Genetics, McGill University Health Centre, who authored the award winning publication:
Published, “Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with failure to thrive, weakness, diarrhoea, pallor, anemia, and pancytopenia or agammaglobulinemia. It can sometimes resemble neonatal leukemia or severe combined immunodeficiency disease. Diagnosis of TC deficiency is suspected based on megaloblastic anemia, elevation of total plasma homocysteine, and blood or urine methylmalonic acid. It is confirmed by studying the synthesis of TC in cultured fibroblasts, or by molecular analysis of the TCN2 gene. TC deficiency is treatable with supplemental cobalamin, but the optimal type, route and frequency of cobalamin administration and long term patient outcomes are unknown. Here we present a series of 30 patients with TC deficiency, including an update on multiple previously published patients, in order to evaluate the different treatment strategies and provide information about long term outcome. Based on the data presented, current practice appears to favour treatment of individuals with TC deficiency by intramuscular injections of hydroxy- or cyanocobalamin. In most cases presented, at least weekly injections (1 mg IM) were necessary to ensure optimal treatment. Most centres adjusted the treatment regimen based on monitoring CBC, total plasma homocysteine, plasma and urine methylmalonic acid, as well as, clinical status. Finally, continuing IM treatment into adulthood appears to be beneficial.” in the Journal of Inherited Metabolic Disease 2014 May; 37(3):461-73
Ovarian cancer patients should all be offered genetic testing
There are 17,000 Canadian women living with ovarian cancer. It is estimated that this year in Canada, 2,600 women will be newly diagnosed with this disease. Ovarian cancer is the fifth most common cancer for women and is the most fatal women’s cancer. Ovarian Cancer Canada: http://www.ovariancanada.org/about-ovarian-cancer
The study “A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population” was co-authored by Moria H. Belanger and Lena Dolman of McGill University; Suzanna L. Arcand of the RI-MUHC; Zhen Shen and George Chong of the Jewish General Hospital; Anne-Marie Mes-Masson and Diane Provencher of Centre de recherche du Centre Hospitalier de l’Université de Montréal and Institut du cancer de Montréal; and Patricia N Tonin of the RI-MUHC and McGill University. The findings, published in the Journal of Ovarian Research, have clinical implications both for the treatment of this disease and for the screening of individuals at-risk.
“Our findings suggest that all women with the most common form of ovarian cancer should be offered genetic testing as this would help identify carrier women in their families and allow health professionals to offer risk reducing strategies for their relatives,” says lead author Dr. Patricia Tonin, Associate Leader of the Cancer Research Program at the Centre for Translational Biology of the RI-MUHC. “Currently, only women with a family history of breast and ovarian cancer are offered genetic testing, and if they happen to carry BRCA1 or BRCA2 mutations they are given cancer prevention strategies to reduce their risk for these cancers.”
Dr. Tonin and her colleagues examined more than 400 tissue samples from a unique population of French Canadian women with ovarian cancer that were not selected for their family history of cancer. Analysis revealed that 19 per cent of women with the most common and lethal form of ovarian cancer carry mutations in BRCA1 and BRCA2, which is considerably higher than the previous estimates of 4 to 11 per cent.
Bravo Gala Celebrates Researchers at McGill
Photo: Owen Egan
McGill applauded the achievements in research excellence on the 10th anniversary of event, Bravo. This gala evening, honoured over 75 prize winners from across a full range of research disciplines, who received notable prizes, awards and scholarships in the year 2014.We congratulate all the honorees from the Faculty of Medicine!
Simon Gravel, Department of Human Genetics: Honoured for receiving the Alfred Sloan Research Fellowship
Gustavo Turecki, Department of Psychiatry: Honoured for receiving Découvertes de l’année
Loydie Jerome-Majewska, Departments of Pediatrics and Human Genetics: Honoured for receiving the Haile T. Debas Prize
Brent Richards, Departments of Medicine, Human Genetics, Epidemiology and Biostatistics: Honoured for receiving the Jody Ginsberg Youth Investigator Award
Philippe Gros, Department of Biochemistry: Honoured for receiving the McLaughlin Medal
William Foulkes, Departments of Medicine, Human Genetics and Oncology: Honoured for receiving the O. Harold Warwick Award
Guy Rouleau, MNI, Hopsital Department of Neurology and Neurosurgery: Honoured for receiving Prix d’excellence du Collège des médecins du Québec
Constantin Polychronakos, Department of Pediatrics: Honoured for receiving the Royal Society of Canada Fellowships
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- UQAC – Post doctoral position or PhD position available.
- McGill – Post doctoral position in Disease Epigenomics and Epidemiology – Position from Spring 2015
- Stanford – Stanford Medical Biochemical Genetics Fellowship Program