Archives: projects

About Dr Mak: Dr Mak completed obtained her doctor of philosophy and medical degrees from the University of Calgary and will be completing her Adult Neurology residency training at McMaster University. During residency, Dr Mak was involved in a number of patient safety and clinicopathological initiatives. She has a keen interest in the diversity and complexity of neuromuscular medicine. Dr Mak is excited to undertake fellowship training in neuromuscular medicine, as it will cultivate her skills in neuromuscular medicine, and allow her to be involved in research initiatives aimed at advancing the care of patients with neuromuscular diseases.

This project aims to fully assess issues in protein quality in DMD muscle stem cells through a variety of methods. This study will also explore how changes to CARM1 can impact the function of muscle stem cells and how they contribute to muscle repair. The ultimate goal of this work is to provide possible of treatment for DMD through these stem cells.

The goal of this study is to identify the cause of liver disease in X-linked myotubular myopathy (XLMTM) and the effects of diet and the immune system on its development. This study will be the first to identify causes of liver disease in XLMTM and discover new therapies to help children with this devastating disease.

Marianne obtained her medical degree from Université Laval. She then chose to specialize in physiatry at Université Laval. Throughout the program, she was actively involved in extra-curricular activities and improving the curriculum. She also participated in many research projects, notably with patients with spinal muscular atrophy.

Marianne also has experience with the practice of physiatrists in Fredericton and Victoria, where she discovered and developed her keen interest in neuromuscular diseases, since it aligned with her goal of improving patient’s quality of life.

Alasdair was born and raised in Hamilton, Ontario. He attended McMaster University to study Kinesiology followed by Western University in London, Ontario for his medical degree. He is currently completing his Physical Medicine and Rehabilitation residency at Queen’s University in Kingston, Ontario.

He has been interested in electrodiagnostics, neuromuscular medicine and pain management since early in his training. In residency, he has developed skills in interventional pain management and electrodiagnostics. He is excited to undertake fellowship training to improve his skills in neuromuscular medicine. His research interests have focused on myofascial pain syndrome and quantitative EMG.

Outside of work he is passionate about music (as a long time saxophone player), plants (he has over 100), playing hockey, history and spending time with his wonderful partner. He hopes to return eventually to Kingston to practice.

Collin completed his neurology residency at the University of Alberta, where he is currently completing an ALS Clinical Research Fellowship. His research focuses on understanding the intersection of advanced neuroimaging, neuropathology and the development of biomarkers in ALS.

With support from the National Clinical Fellowship in Neuromuscular Medicine & Electromyography, he will join the University of Calgary in the upcoming year for training in EMG and neuromuscular medicine. This fellowship training will be a crucial component in his career development to becoming a clinician-scientist.

Oculopharyngeal muscular dystrophy (OPMD) is a muscle disease and causes swallowing problems with face and limb weakness. OPMD is one of the most common muscular dystrophies in Canada. With new medications being tested, better methods are needed to assess how OPMD worsens or may improve with treatment. Standard MRI of the muscle can show some changes in the muscle and help with diagnosis. However, new ‘quantitative’ MRI (qMRI) can carefully assess the increasing fat in muscle as the muscular dystrophy progresses. However, qMRI has not been used to assess whole body muscle disease progression in OPMD patients.

We will use new qMRI methods to assess muscle involvement and disease progression in OPMD with whole body muscle qMRI over 1 year. We will also assess the link between qMRI and clinical weakness and strength testing. Our study will help patients with muscular dystrophy. We will study one of the largest groups with OPMD with muscle qMRI followed over time and determine if MRI predicts the disease progression. Also, this study will help guide using qMRI in future treatment trials in OPMD.

There are no programs for the transfer from pediatric to adult care for people living with Spinal Muscular Atrophy in Canada. Transition is known to be a time of worsening health due to gaps in clinical care. Therefore, this is an important area to improve upon for patients and families.

We want to learn about what it is like to be a person with SMA as they move from pediatric to adult care. We plan to do a 24-month study across 4 centers. We will talk to individuals with SMA and their caregivers who have already transitioned to adult care. We will also talk to individuals with SMA and their caregivers as they transfer to adult care at three time points: during pediatric care, after the joint transition visit and during adult care. We want to learn about the transition experience including what went well, what didn’t go well and how we can do better. We will also study the number of emergency room visits and hospital stays, quality of life, mood and stress levels during this time.

This study will be the first step towards developing specific programs across the country for people with SMA to help support them as they transfer from pediatric to adult care. What we learn can also be used to help develop programs for people with other neuromuscular disorders in Canada.

Spinal bulbar muscular atrophy (SBMA; Kennedy disease) is a genetic disorder. It causes weakness, and difficulty with speaking, swallowing and breathing. Recently, we found a very high prevalence of SBMA in Indigenous people in Saskatchewan. Indigenous people affected by SBMA have told us of their wishes for more research. We have identified an approach called “photovoice” as a way to show the lived experience of people with SBMA. Pictures are used to show their lived experience. They then join group discussion with researchers. No studies to date have used the photovoice method in SBMA.

Our team’s approach adapts photovoice to Indigenous methods. We will explore the findings from photovoice using sharing circles. This study will give voice to a community that has not previously been heard. It will increase awareness about SBMA in Indigenous communities. This will hopefully help SBMA patients get access to the resources they need.

Motor neurons connect with muscles and control their movement through structure called neuromuscular junctions (NMJs). If motor neurons, muscles or NMJs don’t work properly, this can lead to a disorders known as neuromuscular disorders (NMDs). Most NMDs lack effective treatments. Animal models usually fail to copy human disorder making drug discovery challenging. Therefore, more relevant models are needed to study NMDs.

Our research will use human blood samples to generate stem cells. Stem cells are able to give rise to all the cell types found in the human body, including motor neurons. We have successfully cultured the motor neurons with human muscle in a dish to generate human models of the NMJ and now will use this NMJ model with different types of NMDs.

We believe that our model can be used to screen new drugs to find beneficial compounds with the potential to be advanced into clinical trials across different NMDs