03-Aug-12

S_Witkowski-Zhang_WP-300x198PhD students in Human Genetics, McGill University

Award-winning publication:

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

Published in Nature Genetics 46, 438-443 (2014)

“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.”

[Read More About It]

__________________________________

Cette molécule qui nous déprime (Institut Douglas – Université McGill)

Turecki(2)Par Dominique Forget – 03/12/2014

Que se passe-t-il dans le cerveau en cas de dépression?
En autopsiant des cerveaux, des chercheurs de l’Institut Douglas ont trouvé qu’une petite molécule, la miR-1202, était présente en moins grande quantité dans le cerveau des personnes dépressives que dans celui des personnes en bonne santé mentale. Ce «micro-ARN» régule l’expression de plusieurs gènes, dont celui du récepteur au glutamate, un neurotransmetteur qui exerce un effet stimulant sur le cerveau. L’équipe a aussi découvert que la miR-1202 est moins abondante dans le sang des personnes dépressives. Et ce n’est pas tout: le taux de miR-1202 augmente chez les patients qui répondent bien aux médicaments antidépresseurs. Ce marqueur constitue donc à la fois un indicateur de dépression et un indicateur de réponse au traitement, mais aussi une piste pour mettre au point de nouveaux médicaments contre la dépression.

 

[Video: Québec Science et Canal Savoir]

[Video: Daily Planet from Discovery Channel]

__________________________________

Appointment of Dr. Gustavo Turecki as Chair of the Department of Psychiatry at McGill

GustavoTurecki  2014

It is with great pleasure that we announce the appointment of Dr. Gustavo Turecki as Chair of the Department of Psychiatry, Faculty of Medicine, McGill University, effective March 1, 2015. Dr. Turecki succeeds Dr. Mimi Israël, who led the department with great distinction since 2007. We take this opportunity to offer our sincere thanks to Dr. Israël for her outstanding leadership throughout her term, and we wish her continued success.

Dr. Turecki is Professor in the Department of Psychiatry at McGill, where he currently is Associate Chair of Research and Academic Affairs. He has been an Attending Psychiatrist at the Douglas Mental Health University Institute since 1999, and he is also Director of the McGill Group for Suicide Studies, as well as head of its Depressive Disorders Program and Co-Director of the Douglas Bell-Canada Brain Bank. In addition, he is the Director of the Fonds de recherche du Québec – Santé (FRQS) funded provincial network on suicide and mood disorders.

Dr. Turecki studied at Escola Paulista de Medicina in Brazil, earning an MD, as well as a Masters of Science in Psychiatric Epidemiology/Genetics. He completed his Psychiatry residency at São Paulo General Hospital in Brazil, and he obtained a PhD in Neuroscience (Genetics) at McGill. He is a Fellow of several scientific and professional organizations, has served as President of the International Academy of Suicide Research, and currently sits on Council for the American Foundation for Suicide Prevention (AFSP) and the International College of Neuropsychopharmacology.

[Read More About It]

__________________________________


10-August-12

(Photo: Jaesung Kim, Alison Brebner, Moria Belanger, Peg Illson, Lena Dolman, Tracy Wang, Kush Prithipaul, Wayne Mah, Francis Petrella)

Message from Moria Belanger:

Hi Everyone,

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!

Cheers,

Moria


03-Aug-12

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Scientists’ gene discovery could help reverse childhood blindness disease

 

 

 

 


27-July-12

Having climbed as high as he could at McGill, the time has come for Thomas to move on. His last day in the office will be Tuesday, July 31.

 


03Jul12

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
Clinical

Patricia Tonin, PhD
Research

Congratulations to the winners!

Please keep your ideas in mind for next year’s award nominees.

The Faculty Awards Committee:

Ken Dewar
Jennifer Fitzpatrick
Pablo Lopez
Aimee Ryan
Yannis Trakadis


21-June-12

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


08Jun12

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.


1Jun12

 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.

 

Click here to read full tribute


17May12

Clarke Fraser

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

 Nada Jabado

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.

 


30jan12