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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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Reflections on Rare Disease Day 2017

rdd-logo-300x287Today, February 28, 2017 is International Rare Disease Day (RDD). While it is just one day on the calendar, people affected by rare diseases are impacted by their condition 24 hours, 7 days a week, 365 days a year.

A rare disease is defined as a medical condition that impacts a small percentage of the population, less than 1 in 2000 people.

• 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
• 50% of rare diseases affect children.

Muscular Dystrophy Canada supports research to find treatments for over 150 different types of rare neuromuscular disorders. You see, muscular dystrophy isn’t just one disorder; Different genetic mutations cause different disorders. While investments in research over the past decade have resulted in a tremendous increase in our knowledge, and understanding of the molecular causes of neuromuscular disorders, we still have a long way to go.

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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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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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The STEADFAST research study and how you can participate

Credit: Dr. Doug McKim, Respirologist, Ottawa Hospital Rehabilitation Centre

Credit: Dr. Doug McKim, Respirologist, Ottawa Hospital Rehabilitation Centre

Not all research studies require participants. Some, however, do offer the chance for the public to participate, and the Stacking Exercises AIDS the Decline in FVC and Sick Time (STEADFAST) study is currently looking for people to participate in its work on breath stacking techniques and Duchenne muscular dystrophy.

moveit! asked STEADFAST’s principal investigator, Dr. Sherri Katz of the Children’s Hospital of Eastern Ontario (CHEO), some questions about the study, what it involves and how people who are interested can participate.

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