Researchers have identified the genetic mutation responsible for one patient's serious health problems, finally solving a medical mystery that has endured for over 30 years. Thanks to this discovery, the researcher developed a therapy that could also help a lot of people who have problems related to the immune system, whether they are genetic or due to a transplant or an illness.

Classified as: genetics, faculty of medicine, health and lifestyle, molecular therapy
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Published on: 6 Apr 2017

Remembering Carrie Derick on Women's Day

Classified as: genetics, women's day, first woman professor
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Published on: 3 Mar 2017

Research and clinical care complement each other at The Neuro

February 28th was Rare Diseases Day, an opportunity to recognize a class of disease that is often overlooked. In the past five years, the Montreal Neurological Institute and Hospital (The Neuro) has made the study and treatment of rare diseases a major priority, hiring new specialists and support staff and coordinating activity under a new research group.

Classified as: Rare disases, Bernard Brais, genetics, Eric Shoubridge, ataxia, Heidi McBride, Guy Rouleau
Published on: 28 Feb 2017

Researchers have linked a debilitating neurological disease in children to mutations in a gene that regulates neuronal development through control of protein movement within neuronal cells.

Classified as: genetics, epilepsy, Peter McPherson, Epileptic encephalopathy, Chanshuai Han, DENND5A
Published on: 28 Nov 2016

Two researchers at the Montreal Neurological Institute and Hospital (MNI) of McGill University have received funding to study a devastating neurodegenerative disease that first appears in toddlers just as they are beginning to walk.

Classified as: University of Saskatchewan, ARSACS Foundation, Charlevoix-Saguenay, ARSACS, Autosomal recessive spastic ataxia of Charlevoix-Saguenay, genetics, stem cells, Neuro Giving, Peter McPherson, Edward Fon
Published on: 24 Nov 2016

You probably know someone who has it. It is the most common movement disorder, yet most people don’t even know its name.

Essential tremor affects nearly one per cent of the world’s population, increasing to four per cent of those over 40. The involuntary shaking of hands is the most common symptom, but symptoms can also include shaking of the head and legs.

Classified as: genetics, Guy Rouleau, essential tremor, Simon Girard, movement disorders
Published on: 21 Oct 2016

A team of scientists led by Dr. Michel Desjardins from the University of Montreal and Dr. Heidi McBride from the Montreal Neurological Institute and Hospital (MNI) at McGill University have discovered that two genes associated with Parkinson's disease (PD) are key regulators of the immune system, providing direct evidence linking Parkinson's to autoimmune disease.

Using both cellular and mouse models, the team has shown that proteins produced by the two genes, known as PINK1 and Parkin, are required to prevent cells from being detected and attacked by the immune system.

Classified as: Parkinson's disease, Parkinson's, mitochondria, autoimmune disease, genetics, PINK1, Parkin, Heidi McBride
Published on: 27 Jun 2016

McGill Newsroom

Study examines genetic data to analyze regional differences in ancestry

A new study of genomic diversity in the U.S. clarifies the role of pre-Civil War admixture and early 20th century transit routes in shaping the migration history and genomic diversity among African-American communities. The research by McGill University professor Simon Gravel and colleagues, was published May 27 in PLOS Genetics.

Classified as: genetics, United States, genomics, society and culture, Canadian Institutes for Health Research, simon gravel, african-americans, heritage, Canada Research Chair program, ancestry
Published on: 27 May 2016

Scientists at the Montreal Neurological Institute and Hospital (MNI) have identified novel gene mutations that cause hereditary spastic paraplegia (HSP), a step forward in efforts to treat this debilitating disease.

It is estimated that between two and 10 people per 100,000 in the general population have HSP, a disease characterized by weakness or spasticity in the lower limbs. HSP is caused by mutations inherited from one or both parents.

Classified as: HSP, hereditary spastic paraplegia, genetics, Research, Guy Rouleau
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Published on: 9 May 2016

It is all about finding the right person. More than 20,000 organ transplants have been performed in Canada over the last 10 years and routinely extend lives. But sometimes the recipient’s immune system recognizes the new organ as foreign and rejects it, which can lead to serious complications.

Classified as: genetics, Genome, genomics, Transplantation, organ donor, hla, organ transplant, McGill University and Génome Québec Innovation Centre, self, incompatibilities
Published on: 1 Oct 2015

The dedicated work by Dr Nancy Braverman is featured in this New York Times article on children with RCDP, a rare and devastating disease.

 

Classified as: genetics, faculty of medicine, pediatrics, nancy braverman, rcdp
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Published on: 6 Sep 2015

Despite numerous genomic studies, evidence for a genetic contribution to cardiovascular disease disparities in blacks versus whites provide little insight

Classified as: Biostatistics, genetics, race, McGill, epidemiology, cardiovascular disease, Jay Kaufman, genome-wide association studies (GWAS), occupational health, racial mortality gap
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Published on: 16 Mar 2015

McGill University Professor Philippe Gros has been awarded the McLaughlin Medal from the Royal Society of Canada for important research of sustained excellence in medical science.

Classified as: biochemistry, genetics, royal society of canada, health sciences, McLaughlin Medal, Philippe Gros
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Published on: 23 Sep 2014

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