June is ALS Awareness Month
What is ALS?
Amyotrophic Lateral Sclerosis (ALS) also known as Lou Gehrig鈥檚 disease, is a neurodegenerative disease in which progressive muscle weakness leads to paralysis. ALS is a result of the death of motor neurons (nerve cells) in the brain and spinal cord that control voluntary muscle movement. Most people survive less than five years following diagnosis, but a small percentage of patients live for ten years or even longer. So far, there is no cure. About 3,000 Canadian adults have ALS and less than 1 in 10 patients have a family history of the disease.听
ALS research and treatment at The Neuro
The Montreal Neurological Institute and Hospital - The Neuro, provides the finest clinical care for ALS patients and their families. The Neuro also has state-of-the-art facilities for carrying out basic and clinical ALS research.听
The ALS clinic at the Neuro is considered a model for multidisciplinary clinical care. Under the directorship of neurologist Dr. Angela Genge, the ALS clinical research program develops and tests new ALS therapies in collaboration with the Canadian ALS Clinical Trial Consortium (CALS), and with researchers abroad. The Neuro鈥檚 extensive national and international partnerships help to advance research into ALS and to develop effective treatments.听
Dr. Genge is the recipient of the 2011 YWCA Woman of Distinction Award in Science and Technology for exceptional contributions to patient care and innovative research. She and another ALS researcher at The Neuro, Dr. Heather Durham, are also among the distinguished Canadians to receive a Queen Elizabeth II Diamond Jubilee Medal.
ALS researchers at The Neuro
Dr. Heather Durham has concentrated her research on ALS for more than 20 years.听 Her lab specializes in developing tissue culture models of the disease. Dr. Durham seeks to understand why motor neurons are particularly vulnerable to damage in ALS, and how these neurons are affected by different genetic mutations responsible for familial forms of ALS.听 By identifying commonalities and differences in how toxic mutant proteins cause the death of motor neurons, her work can potentially improve the preclinical identification and evaluation of therapies.听 A team led by Dr. Durham has uncovered similarities in both familial and sporadic ALS.听 The team found compromising factors in systems important for maintaining protein quality control, known as the protein chaperoning and ubiquitin-proteasome system. Dr. Durham is also studying the role of aberrant RNA metabolism in ALS and how mutation or dysregulation of RNA-binding proteins causes motor neuron dysfunction through compromise of their function, as well as through secondary epigenetic mechanisms.听 She also studies mitochondrial involvement in ALS. The Durham laboratory collaborates with investigators at the Centre Hospitalier de l'Universit茅 de Montr茅al (CHUM), Western University, and the Centre de Recherche de l'Institut du cerveau et de la moelle 茅pini猫re, INSERM.听 Dr. Durham works to promote ALS research initiatives across Canada and serves as a Board member of the ALS Society of Canada and as Chair of the Research Council.
Dr. Peter McPherson鈥檚 research is aimed at understanding the function of proteins in nerve cells using biochemical, molecular, structural and cellular approaches.听 His laboratory has identified proteins that could play a fundamental role in neurodegenerative and motor neuron diseases.听 For example, his laboratory identified a protein called Scyl1 that functions in the transport of other proteins in nerve cells. Mutation of this protein in mice generates a motor neuron disease that has many features of ALS in humans and appears to be a strong new animal model for the disease. Dr. McPherson is also working on a protein group called DENN domain proteins. It was recently demonstrated that one such protein is the product of the C9orf72 gene, which is the most common mutation in ALS and in frontal temporal lobe dementia.
Dr. Stefano Stifani studies the generation, muscle connectivity, and regeneration of nerve cells used for respiration, mastication, swallowing, and motor activities. His research team has helped to explain the mechanisms underlying the development of those particular types of neurons. His teams presented some results of their studies on the formation of motor circuits controlling breathing at the ALS Society of Canada Research Forum in May, 2013. Dr. Stifani鈥檚 program aims to provide strategies to manipulate neural stem cells, and to design approaches that might promote the adult nervous system's ability to repair itself in response to trauma or disease.
Dr. Eric Shoubridge investigates genes that underlie mitochondrial dysfunction.听 Such dysfunction is believed to contribute to many neurodegenerative diseases, including ALS.听听 His research could help explain the causes of motor neuron diseases.
Dr. Heidi McBride is an expert on mitochondrial biology.听 The mitochondria are organelles within the cell that use oxygen to break down sugar and fat in order to provide energy to cells.听 Dr. McBride investigates the regulation of these pathways in healthy and diseased organisms, and also studies how damaged mitochondria are cleared from the cell.听 Her work is helping to understand how errors in mitochondrial function may contribute to the development of ALS.
Dr. Hiroshi Tsuda uses mice and Drosophila (commonly known as fruit flies) to identify genetic pathways leading to ALS. The conservation of molecular mechanisms makes Drosophila and mice excellent models for the study of human diseases. His laboratory has developed novel mice and Drosophila models that recapitulate many phenotypes associated with ALS. Dr. Tsuda believes that his project will advance our understanding of ALS and provide insight towards the development of a treatment.
ALS and Community Support
The Tony Proudfoot Fund at The Neuro supports young neuroscientists who undertake research projects focusing on ALS at the masters, doctoral and postdoctoral level.听 The Fund was established by the late Tony Proudfoot, former quarterback of the Montreal Alouettes of the Canadian Football League. He was diagnosed with ALS in 2007.听
Established in 1983, the ALS Society of Quebec provides support for people with ALS and their families, creates public awareness, and raises funds for patient services and research.听 The ALS Society of Quebec works in partnership with other provincial ALS agencies and with the ALS Society of Canada.
In June, ALS Awareness Month, people across Canada raise awareness for ALS, raise funds and don the blue cornflower 鈥� the national emblem of ALS in Canada.
About The Neuro
The Montreal Neurological Institute and Hospital 鈥� The Neuro, is a unique academic medical centre dedicated to neuroscience. Founded in 1934 by the renowned Dr. Wilder Penfield, The Neuro is recognized internationally for integrating research, compassionate patient care and advanced training, all key to advances in science and medicine. The Neuro is a research and teaching institute of 平特五不中 and forms the basis for the Neuroscience Mission of the 平特五不中 Health Centre.听 Neuro researchers are world leaders in cellular and molecular neuroscience, brain imaging, cognitive neuroscience and the study and treatment of epilepsy, multiple sclerosis and neuromuscular disorders. For more information, visit theneuro.com.
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