Summer Studentship profile

Lay abstract:

Muscular dystrophies are a group of genetic disorders that effect muscle quality and function. The disease can also target other organ systems including the cardiac, respiratory and neurological systems. We are particularly interested in the heart conditions that can present in muscular dystrophy patients as it’s the number one cause of death in the population. The most common heart conditions seen in this population are irregular rhythms and enlargement of the heart, called dilated cardiomyopathy, which can lead to heart failure.  Through the University of Alberta, a multidisciplinary neuromuscular clinic was created for patients diagnosed with muscular dystrophy. Here patients can conveniently be seen by a variety of specialists in one location. Through this clinic a database was created to track a variety of outcomes in these patients. Data included known diagnosis, medication use, seeking of medical attention, cardiac device use and medical test results (ECHOs, cardiac MRIs, ECGs). Through this clinic blood plasma is collected from patients. Labs are run to measure the level of the following components, known as biomarkers: Troponin I, B-type natriuretic peptide (BNP), C reactive protein (CRP), Interleukin-6 (IL-6), Tumor Necrosis Factor (TNF)-RI, TNF-RII and TNF-a. Troponin I is used to detect cardiac muscle damage, while BNP is released when the heart is stretched and can indicate heart failure. The rest are inflammatory markers that can become elevated during heart disease. These have been shown to be useful markers in other cardiac diseases. We plan to compare the levels of these biomarkers to the information in the database in order to determine if these biomarkers are useful in early detection and/or monitoring of heart conditions in muscular dystrophy patients. We will compare the levels of the above biomarkers in those with and without ECGs showing irregular rhythms. We will also graph the level of biomarker against the size of particular chambers in the heart to see if there is a correlation. Biomarker levels can be different between men and woman, so we plan to compare these two groups to see if there are any gender specific biomarkers.  If a useful biomarker is detected clinicians will be better able to predict which muscular dystrophy patients are at higher risk of developing cardiac disease. They will also be able to monitor the progression of the disease and the usefulness of therapies; thus, leading to improved clinical outcomes for muscular dystrophy patients.

What motivated you to participate in this research?

Before entering medical school, I worked in research related to genetic therapies for patients with Duchenne's muscular dystrophy. The therapies were very promising; however, one issue was the cardiac complications weren’t affected by the therapy as strongly as muscle. I had always had an interest in cardiac physiology and this issue in the field was of great interest to me. Upon starting medical school, I was looking for a research project that was more clinical so that I could have increased interactions with patients. When I seen a project dealing with heart failure in muscular dystrophy patients I thought it would be a great fit. It incorporated my previous background knowledge and dealt with my interest in cardiac sciences.

What are your career aspirations?

I’m interested in pursuing a career in cardiac surgery. I’ve been spending a lot of time shadowing the field and absolutely love it. I enjoy the complexity and hands on work; as well as the patient population. There are also many opportunities to continue an academic career. Many of the current surgeons and residents have graduate degrees and continue their research work. Becoming a clinical scientist is something I’m considering at this time. A mix of research and surgery would make for a busy and interesting career.

How has this studentship helped you toward those aspirations?

I’ve furthered my knowledge on heart failure and cardiac physiology through this studentship; which will be important for my future career. I’ve also had some opportunities to interact with patients and the multidisciplinary muscular dystrophy clinic. As a future physician more time spent with patients is valuable. Doing research has also improved my critical reasoning and communication skills.