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The Parent-of-Origin Phenomena in Congenital Muscular Dystrophy

CMD-resizeMuscular Dystrophy Canada is passionate about finding treatments and improving the quality of life for Canadians affected by over 150 different types of neuromuscular disorders. In order to do this, we have been dedicated to funding biomedical and discovery research to increase our understanding about these genetic disorders. Research has been successful at uncovering the causes and mechanisms behind several neuromuscular disorders, like Duchenne muscular dystrophy, there are still many unanswered questions with other conditions, like myotonic dystrophy.

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New therapeutic development showing promise for infants with SMA

gettyimages-86802223The early cancellation of the clinical trial for the experimental drug nusinersen found that the difference in the children given the drug, and those on the placebo was so drastic that doctors determined they could no longer administer the placebo in good conscience. The drug nusinersen is designed to help those affected by spinal muscular atrophy (SMA).

Dr. Craig Campbell is a scientist/paediatrician with the Children’s Hospital at London Health Sciences Centre who works closely with patients affected by SMA, and has seen first hand the encouraging signs the treatment has given some of his patients. We asked Dr. Campbell a few questions regarding the news of this clinical trial:

What is nusinersen and how does it work?

Nusinersen is an antisense oligonucleotide, which is basically a small piece of genetic material that works by tricking the cell machinery into reading and producing a normal SMN protein, from another gene that is very similar to the one missing in patients with SMA.

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Stan Cassidy Centre for Rehabilitation

stan-cassidy-centre-logoAdjoining the Dr. Everett Chalmers Regional Hospital in Fredericton, New Brunswick, is the Stan Cassidy Centre for Rehabilitation. This facility is a leader in neurological rehabilitation, taking an interdisciplinary healthcare team approach to providing their patients with the best care.

Patients  from New Brunswick and Prince Edward Island of all ages, and complex paediatric patients from Nova Scotia are  seen at SCCR. It is one of two rehabilitation facilities in Canada that cares for patients through their entire  lives. The medical and therapeutic teams provide  services via five avenues: in-patient, out-patient, tele-rehab, outreach and expert consult.

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Update: Respiratory Care Seed Grants

lungs

Muscular Dystrophy Canada has made it a priority to support research into areas that affect the quality of life of people living with neuromuscular disorders. One of the key issues that impacts on quality of life is respiratory health.  Through its focus on Respiratory Health, Muscular Dystrophy Canada has produced evidence-based resources such as The Guide to Respiratory Care for Neuromuscular Disorders, which is used by patients, families and clinicians across Canada and internationally to help guide care decisions.

Through the Seed granting process, Muscular Dystrophy Canada is supporting research projects that focus on enhancing respiratory health and quality of life in a range of neuromuscular disorders. The Seed granting process is now in its third year, with a number of new proposals currently being considered by a panel of expert reviewers. The results of this research will guide evidence-informed care, and will contribute to the timely and efficient translation of innovations from the research setting to patient care settings. Please stay tuned to the website this fall as we announce the successful projects!

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International Congress on Neuromuscular Diseases to be held in Toronto

AAEAAQAAAAAAAAVvAAAAJDhhNjE1MjdhLTg1YTYtNGIzMy04NzA0LTEwZjkyN2VlMmJhOAThe International Congress on Neuromuscular Diseases (ICNMD) will be held in Toronto from July 5 – 9, 2016, and Muscular Dystrophy Canada will be there! The Congress brings together outstanding scientists from around the world, ranging across the spectrum of neuromuscular disorders. The program includes multiple sessions on muscular dystrophies, exploring the latest research and providing updates on understanding the genetics, pathogenesis, evaluation and treatment of neuromuscular disorders.

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