Congratulations to Dr. Roderick McInnes on being named recipient of the ASHG Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education, 2015. We would also like to congratulate the other recipients Dr. Robert Nussbaum and Dr. Huntington F. Willard.
The ASHG Award for Excellence in Human Genetics Education was established to recognize those who have made significant contributions of exceptional quality and great importance to human genetics education. Individually and together, each of this year’s three recipients is an accomplished geneticist and educator. Over the years, they have taught regularly as well as run their own laboratories, and have been involved in program development and/or mentoring at various levels.
Dr. Roderick R. McInnes is the Director of the Lady Davis Institute of the Jewish General Hospital, Alva Chair in Human Genetics, Canada Research Chair in Neurogenetics and Professor of Human Genetics and of Biochemistry at McGill University. Dr. McInnes has made important contributions to scientific understanding of retina and eye development, as well as retinal degeneration, and currently, his laboratory focuses on neuronal processes. He has served on numerous educational committees since the 1970s, launched a training program for clinician-scientists, and taught genetics and provided guidance at the medical and graduate levels.
Since 2001, Drs. Nussbaum, McInnes, and Willard have collaboratively authored the sixth, seventh, and eighth editions of the human genetics textbook Genetics in Medicine. Nearly 60 genetics education programs worldwide currently use the textbook, in levels ranging from undergraduate to graduate and professional study, and in diverse contexts including medical, nursing, public health, speech and language, and dental programs.
Canadian study sheds surprising light on the causes of cerebral palsy
Cerebral palsy is the most common cause of physical disability in children. Every year 140 children are diagnosed with cerebral palsy in Quebec. It has historically been considered to be caused by factors such as birth asphyxia, stroke and infections in the developing brain of babies. In a new game-changing Canadian study, a research team from The Hospital for Sick Children (SickKids) and the Research Institute of the McGill University Health Centre (RI-MUHC) has uncovered strong evidence for genetic causes of cerebral palsy that turns experts’ understanding of the condition on its head.
The study, published online August 3 in Nature Communications could have major implications on the future of counselling, prevention and treatment of children with cerebral palsy.
“Our research suggests that there is a much stronger genetic component to cerebral palsy than previously suspected,” says the lead study author Dr. Maryam Oskoui, Paediatric neurologist at The Montreal Children’s Hospital (MCH) of the MUHC, co-director of the Canadian Cerebral Palsy Registry and an Assistant Professor in the Department of Paediatrics and Department of Neurology and Neurosurgery at McGill University. “How these genetic factors interplay with other established risk factors remains to be fully understood. For example, two newborns exposed to the same environmental stressors will often have very different outcomes. Our research suggests that our genes impart resilience, or conversely a susceptibility to injury.”
2015 Victor A. McKusick Leadership Award – Dr. Charles Scriver
“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
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