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
Award winner of the Fonds Santé (Leora Witkowski and Jian Carrot-Zhang)
PhD students in Human Genetics, McGill University
“Small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) is the most common undifferentiated type of ovarian cancer diagnosed in women below the age of 40. While it is rare, with only ~400 cases described in the English literature, it is a very aggressive disease, with 5-yr survival rates for early stage diagnoses at 33%. Prior to our publication, the histogenesis of the disease remained elusive, and publications discussing the histogenesis of SCCOHT were merely speculative. Our publication confirmed for the first time that SCCOHT is a monogenic disorder and that deleterious germline mutations in the chromatin remodelling gene SMARCA4 predispose to the development of SCCOHT. Our discovery provides women with a family history of early onset ovarian cancer with the option of being tested for germline mutations in SMARCA4, and provides patients with an answer as to why the cancer developed.” in Nature Genetics 46, 438-443 (2014)
(Photo: Jaesung Kim, Alison Brebner, Moria Belanger, Peg Illson, Lena Dolman, Tracy Wang, Kush Prithipaul, Wayne Mah, Francis Petrella)
Message from Moria Belanger:
I would like to thank everyone who came out to skate, cheer, and donate on Saturday for the Free Skate/Shootout to support CanSupport. It was immensely successful and over $300 were raised! Special thanks to Francis for being our goalie and for booking the ice time, as well as to everyone who brought extra skates and helmets for people to use. I had a great time and I hope that everyone else did too! Congratulations on the trophy Alison! Hip hip hooray! I hope we can do this again!
The annual Department of Human Genetics Teaching Award is given to one member of the clinical faculty and one member of the research faculty to recognize their contributions in the teaching, supervision and mentorship of students.
This year’s winners were chosen from among several nominations submitted by students, residents and faculty members, and were announced at the Department meeting on March 14th and at the Graduate Student research Day on June 21st.
David Rosenblatt, MD
Patricia Tonin, PhD
Congratulations to the winners!
Please keep your ideas in mind for next year’s award nominees.
The Faculty Awards Committee:
Congratulations to the Winners of our Research Day Prizes:
Xiaoyang Liu – 1st prize, oral presentation
Jaeseung Kim – 1st prize, poster presentation
Juan Pablo Lopez – 2nd prize, oral presentation
Lena Dolman – 2nd prize, poster presentation
Gregory Boivin – 3rd prize, oral presentation
Jeremy Saban – 3rd prize, poster presentation
It is our pleasure to announce that Bartha Maria Knoppers, Director of the Centre of Genomics & Policy and Professor in the Department of Human genetics received the Order of Québec on June 7th, 2012 in Québec City. Please see her profile here.
David L. Rimoin, MD, PhD
The American College of Medical Genetics and Genomics (ACMG) Mourns the Loss of Founding President and Genetics Pioneer David L. Rimoin, MD, PhD
After a career that spanned nearly half a century, Dr. David L. Rimoin, founding president of ACMG and in many ways the founder of one of the most fast- paced specialties in modern clinical medicine, passed away on Sunday May 27, 2012 in Los Angeles of pancreatic cancer, which had only been diagnosed a few days before.
Dr. Rimoin was a giant in the field of medical genetics. He leaves not only an enduring legacy but also a void in the hearts of the many who loved him, including his beloved wife Ann of 32 years and their three cherished children, Anne, Michael and Lauren.
Clarke Fraser was inducted to the Canadian Medical Hall of Fame in 2012 http://www.cdnmedhall.org/list-name?year=2012
If you haven’t heard it already, Dr. Fraser was interviewed by CBC radio. The podcast can be heard here (fast forward to about 19 minutes 30 seconds) http://podcast.cbc.ca/w6/worldatsix.mp3
On April 24, during a ceremony at the Montreal Children’s Hospital, Mary Argent-Katwala, Director of Research at the Canadian Cancer Society Research Institute, presented the William E. Rawls Prize to Dr Nada Jabado, researcher at the Montreal Children’s Hospital of the McGill University Health Centre (MUHC) and Associate Professor of Pediatrics at McGill University.
The Canadian Cancer Society wants to recognize “Dr Nada Jabado’s remarkable contribution to our understanding of brain cancers in children in the last decade,” Mary Argent-Katwala said at the award ceremony.
At the Montreal Children’s Hospital, Dr Jabado diagnoses fatal tumours. Brain cancers are the leading cause of cancer-related deaths among children because existing treatments are often ineffective. A caring doctor, Dr Jabado focuses on research to one day give hope to the children she treats. “What I am hopeful and proud of is that my work might one day help cure these cancers,” the researcher said.
Innovative in her research, Dr Jabado established a multidisciplinary team composed of pediatric oncologists, bioinformaticians, pathologists and basic scientists. She then equipped the laboratory with a database of childhood tumours, thanks to the collaboration of her peers in Canada and abroad.
To this day, her work has led to great progress in the understanding of brain cancers in children and paved the way for promising treatments. Dr Jabado’s team has most notably identified a genetic mutation present in 40% of glioblastomas, a type of brain cancer. It explains the resistance of glioblastomas to radiation and chemotherapy.
Her recent work has also been the subject of several articles, notably two that appeared in Nature magazine (January and February 2012 issues).
She also won the Maude Abbott prize which was established in 2010 by the Faculty of Medicine in order to recognize outstanding female Faculty Members who excel in Education, Research or Administration with a focus at the early career stage.