Richard Fahlman, Simonetta Sipione and Oksana Suchowersky are working to improve the lives of patients with Huntington disease.
An interdisciplinary team led by University of Alberta researchers has received a $900,000 grant to research Huntington disease.
Their project "Gangliosides in Huntington disease: from bench to clinics and back" was the recipient of the HD Clinician-Scientist-to-Patient Virtual Networks grant competition. This funding initiative, a partnership between Brain Canada and The Huntington Society of Canada, aims to accelerate translation of discoveries to effective treatments for Huntington disease by promoting collaboration between clinicians, researchers and patients.
Huntington disease is an inherited brain disorder that affects one in 7,000 Canadians. It is an autosomal dominant neurodegenerative disorder, which means that the children of every person with Huntington disease have a 50 per cent chance of inheriting the gene. If the gene is inherited, they will develop symptoms.
"Huntington's is a terrible disease that progressively impairs the ability of people to control their movements. Even worse, it strips people of who they are, from their own personality and their ability to communicate with others," says lead researcher Simonetta Sipione.
Previous work in Sipione's laboratory led to the exciting discovery that lipid molecules known as gangliosides are decreased in cells from Huntington disease patients.
"Gangliosides are very important for communication among brain cells and for the overall functioning of the brain," says Sipione.
When she and her research group administered one of these gangliosides, GM1, to Huntington lab models they were able to correct disease symptoms.
The Brain Canada grant will now allow the team to investigate the mechanism of action underlying the neuroprotective activity of GM1. Thanks to this grant, the team hopes that as they improve their understanding of how GM1 works, it will become easier to move toward clinical studies where GM1 would be tested in Huntington patients.
The other component of the grant deals with understanding whether changes in levels of GM1 in the blood of patients correlate with disease progression, and can be used as a biomarker to assist in evaluating new treatments.
"The way we measure disease progression is clinical and not very sensitive to small changes," says Oksana Suchowersky, a clinician and Faculty of Medicine & Dentistry researcher. "It's important to develop a biomarker that is easily measured so we can see if new treatments are making a difference."
Although this research focuses on Huntington disease, some of the mechanisms that lead to the death of brain cells in Huntington patients are similar to other neurodegenerative disorders such as Parkinson's. Sipione believes that their research might have relevance to other neurodegenerative diseases as well.
Together with Sipione and Suchowersky, the research team includes Jonathan Curtis and Richard Fahlman, University of Alberta, Sylvain Chouinard, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, and Justyna Sarna, Hotchkiss Brain Institute, University of Calgary.
Jonathan Curtis will be using his expertise in the analytical chemistry of lipids to bolster the project
The collaboration across sites and disciplines will be key to the success of the project.
"It's a close-knit community clinically," says Suchowersky. "Collaboration will give the group access to larger numbers of patients to do the research."
For Jonathan Curtis, an expert in the analytical chemistry of lipids from the Faculty of Agriculture, Life and Environmental Sciences, the project allows him to "push the instruments in the lab to their limits in really worthwhile applications."
"It's great to be doing these kind of interdisciplinary projects where we can provide expertise in lipid analysis and apply it to medical projects," says Curtis. "A lot of the projects we work on relate to lipids in bio-industrial applications, whereas working in the medical field is quite a different challenge."
Sipione says the team is extremely grateful to the people who raise money and awareness for research into Huntington disease, and to the Huntington Society of Canada that has partnered with Brain Canada to allow funding of this project.