2015 Victor A. McKusick Leadership Award – Dr. Charles Scriver


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:

Update on transcobalamin deficiency: clinical presentation, treatment and outcome

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

[Read more about the Award and previous winners]


Ovarian cancer patients should all be offered genetic testing

Dr. Patricia Tonin

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.

[Read more about it]



Bravo Gala Celebrates Researchers at McGill


Photo: Owen EganPhoto: 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

[Read more about it]


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Funding, Jobs, and Other Announcements:

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July 2015

PhD position at Imperial College London

McGill alumni, Vanessa Sancho Shimizu (PhD in Human Genetics 2007), is starting her own lab at Imperial College London and is interested in recruiting a PhD student (EU tuition and stipend fully covered).

For further details, visit the webpage:


Or Contact: Vanessa Sancho Shimizu PhD


Sciencescape: Annotators

Sciencescape is a tech-start-up based out of Toronto, and looking for senior PhD’s to help with a number of students to work remotely, part-time. This is a paid position. Please contact rabia@sciencescape.net for more information.


Human Genetics Research Day Winners


A big thank you to everyone who attended and presented at the Human Genetics Research Day last Thursday, May 21st. It’s great to hear about the variety of work going on in our department and to find out more about what everyone does after meeting you all throughout the year at various events. We hope you were also able to attend the Scriver Family Visiting Professorship lecture by Dr. Feng Zhang, who impressed faculty and students alike with his extensive work on the CRISPR/Cas9 genome editing system and applications in neuroscience. Congratulations to both oral presentation (Renata Bahous, Mathieu Mancini and Gabriel André Leiva-Torres) and poster presentation (Aaron Kwong, Marie-Lyne Fillion, Fiona-Vanessa Allum-Bordage, Sabrina Torre, Leanne de Kock, Mona Wu and Vinicius Medeiros Fava) winners.

Lastly, the HGSS would like to thank the judges and organizers, with special thanks to Ross MacKay who made the whole day possible.


The HGSS Exec.


Recruiting Sciencescape Staff Writers

Sciencescape is a platform that connects scientists to groundbreaking research around the world and throughout history, with the ultimate mission to organize and deliver all of the world’s research in real time (like a verticalized version of Twitter).

Sciencescape’s new scientific blog will report the most impactful scientific discoveries, as well as interviews with researchers, conference descriptions, etc. Currently, Sciencescope is in the process of recruiting several scientific writers within the biomedical community. It is a great occasion to concordantly exercise your scientific writing skills and enhance your resume!

In order to become a Sciencescape Staff Writer, you must:

  • Be a graduate student (preference will be given to PhDs and postdocs)
  • Be at a recognized basic or translational science institute
  • Commit to writing at least 1 blog post (~500 words) per month

What you get in return:

  • The ability to update your LinkedIn/social profiles as a bonafide Sciencescape Staff Writer
  • Exposure on our blog, with scaling exposure depending on the popularity of your posts
  • Top writers from each institution will be nominated as Sciencescape Senior Correspondents for that institute
  • Top 10 writers across Sciencescape will be featured on our site

If you are interested in becoming a Sciencescape Staff Writer, or have any questions, please contact Irena for additional information.

For more information on Sciencescape, please watch our short video http://bit.ly/OarTyH

Read articles on Wired and TechCrunch  http://tcrn.ch/12Axk4b,  http://bit.ly/13TVAuA,  http://tcrn.ch/1gR2fNh.

Sciencescape was recently voted to be one of the Top 10 Innovations of 2014 by The Scientist Magazine.


5th Cytometry and Microscopy Symposium, June 18-20, Toronto

The Canadian Cytometry and Microscopy Association Organizing Committee is pleased to invite you the 2015 Symposium: Technologies to Treatments. CCMA symposium 2015 will cover many aspects of flow cytometry and  cellular imaging technologies. There will be a focus on workshops that provide key information on how to practically implement these technologies. A keynote presentation by Dr. François Jean – a world leader in infectious disease research from the University of British Columbia – and several plenary talks from leading researchers in the field, will put these technologies in context and inspire attendees to apply the technologies in their own research projects and programs.

Program available for download

The symposium will be held June 18-20, 2015 in Toronto, ON at the Chelsea Hotel and at the Peter Gilgan Centre at SickKids.

Key Dates:
October 2014: Registration opening
April 30, 2015: Early bird
 rates end
April 30, 2015: Poster Submission deadline
June 18, 2015: Core Facility Managers’ Meeting
June 19-20, 2015: CCMA Symposium
or more information, please contact ccma.accm@gmail.com.


2015-16: HGSS Call for Nominations

To All M.Sc./Ph.D. Candidates & Postdocs,

HGSS Executives 2015-16: Call for Nominations: Nominations are now being accepted for HGSS Executive Positions from April 10 – May 8, 2015.

Executive positions and duties are available here (under section 4.4).

Please nominate yourself or others here.

Elections will take place from May 15-29, 2015. The elected will be announced at the Annual HG BBQ to be held in June 2015.


Workshops on Social Science Research

Want to spend the day with one of Canada’s leading public figures? Interested in learning new qualitative or quantitative research techniques? The Workshops on Social Science Research (WSSR) are short, intensive learning experiences and networking opportunities that allow you to develop your critical thinking skills, make new contacts, and succeed as future decision makers. The WSSR offer over 35 workshops led by prominent politicians, public servants and academics from Canada and abroad in the areas of public policy, democratic governance, and research methodology.

Participants can attend these workshops for as little as $50 per day!

Download a copy of the workshops program here: WSSR Program

Find out more about the credit course (the course codes for the WSSR this year are POLI489, POLI683, and POLI815) here: Register for Credit or the non-credit option here: Register for Non-Credit

For more information: Contact


Career Coaching  - White Consulting LLC

Thinking about transitioning from academia to the industry? If so, White Consulting, LLC is here to help. Spearheaded by two Harvard Medical School-trained PhD research scientists who themselves went through this transition, Colin White and Anthony Collmann have career coach many scientists who chose to explore non-academic options.

Their team uses a personalized approach which allows their clients to find and secure opportunities that complement their skill sets. Noha Gerges, an HGEN Alumnus used their services while writing her PhD thesis and highly recommends them to anyone not only looking to tailor their CVs to non-academic positions but to those also looking to improve their overall career-related profile.

For more information, visit the website at http://www.whiteconsultingllc.com or

Contact Noha directly if you have any questions at noha@whiteconsultingllc.com.


2015 NCTU Taiwan Elite Internship Program

The National Chiao Tung University (NCTU) Taiwan Elite Internship Program is currently recruiting Master or PhD students from partner universities and other renowned foreign universities to do research (at least 2 months) at NCTU.
Students will be conducting research on either a small independent project or assisting an ongoing project in the host laboratories.

Qualified students would be offered 1) free round-trip economy class flight ticket from their home country to Taiwan and 2) additional NTD 5,000 scholarship (including tax) for the first month in NCTU.

3rd Round: Application Deadline: 8th June, 2015 ; Research Starting Dates: 3rd Aug.,2015 onward

The application documents are accessible on the website for downloading.



Technical Electives – Academic Year 2015-2016

The Department of Bioengineering is offering the students enrolled in the Department of Human Genetics with the following eight elective courses for the Academic Year 2015-2016:

  • BIEN 210: Electrical and Optical Properties of Biological Tissues (Instructor: A. Ehrlicher)
  • BIEN 310: Introduction to Biomolecular Engineering (Instructor: Y. Xia)
  • BIEN 330: Introduction to Tissue Engineering (Instructor: J. Kinsella)
  • BIEN 340: Transport Processes in Biological Systems (Instructor: A. Kamen)
  • BIEN 462: Engineering Principles in Physiological Systems (Instructor: G. Mitsis)
  • BIEN 510: Applications of Nanoparticles in the Biomedical Sciences (Instructor: J. Kinsella)
  • BIEN 520: High Throughput Bioanalytical Devices (Instructor: D. Nicolau)
  • BIEN 530: Imaging and Bioanalytical Instrumentation (Instructor: A. Hendricks)
  • BIEN 550: Biomolecular Devices (Instructor: A. Hendricks)
  • BIEN 570: Active Mechanics in Biology (Instructor: A. Ehrlicher)


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