Neurodegenerative diseases represent one of the leading causes of disability in the Canadian population. Very few are curable, and many worsen over time. These conditions produce a range of symptoms and functional limitations that pose daily challenges to individuals and their families. Because the incidence of neurodegeneration increases with age, the burden of treating and living with neurodegenerative diseases may magnify as Canada’s population ages.
Presently, leading neurodegenerative disorders in Canada—which include Alzheimer's disease, amyotrophic lateral sclerosis (ALS), cerebral palsy, epilepsy, multiple sclerosis, and Parkinson's disease—are estimated to cost Canadians over $8 billion dollars per annum by the Canadian Institute for Health Information (CIHI). This represents about 7% of the total attributable cost of illness in Canada. In spite of this, there has been little focus on the burden of neurological diseases, disorders and injuries in Canada.
We are developing new treatments for neurodegenerative diseases by generating and studying mice that have the same symptoms and genetic abnormalities as the human forms of these diseases. A wide range of therapeutic strategies can be tested in these mice in order to find treatments that will be effective in humans.
We study Huntington's disease and frontotemporal dementia, in addition to a number of other neurodegenerative diseases that affect children, such as the juvenile forms of amyotrophic lateral sclerosis (ALS) and ataxia. Recently, we found a critical pathway that leads to the development of the juvenile form of Huntington’s disease. By blocking this pathway, we were able to prevent the progression of the disease in mice. This important finding could lay the groundwork for an effective approach to therapy for Huntington disease.
We also study a gene called ABCA1, which was discovered here at the CMMT. Initially known for its role in the development of coronary artery disease, we have since discovered that ABCA1 is highly expressed in the brain, and may play a role in protecting neurons from injury and death in Alzheimer's Disease.
We are actively investigating how genetic signals involved in the early development of the nervous system can cause neurodegenerative disease and brain disorders in children and adults. By understanding how the brain develops and is built, we will also be able understand how brain disorders develop. A major focus of this work is the application of molecular and bioinformatic technologies to study the entire gene regulatory network of the cerebellum, which is an area of the brain that is linked to autism, schizophrenia, mental retardation, and other brain disorders.
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