Lochmüller Lab

We are excited to share that four of our research team members have received competitive funding awards to support their projects.

Academic awards for individual trainees not only provide vital funding for our lab members to pursue their research projects but also act as important recognition of their academic success that helps them to launch their future scientific careers. We are proud of all our talented and dedicated team members and delighted to share details of the successful awards here.

Kaela O’Connor awarded STaR Scholarship in translational research and Queen Elizabeth II scholarship

PhD student Kaela O’Connor was recently awarded a Scholarships in Translational Research (STaR) Award from the Dr. Eric Poulin Centre for Neuromuscular Disease (CNMD) in partnership with the University of Ottawa Brain and Mind Research Institute (uOBMRI). This merit-based award provides $10 000 to support Kaela’s research over 2022-2023. Kaela was also recently awarded a Queen Elizabeth II scholarship award, which will allow her to continue her research for the 2023-2024 academic year.

Kaela’s project involves the study of mutations to mitochondria-associated proteins, which have recently been shown to cause the rare disease congenital myasthenic syndrome (CMS). Kaela plans to use patient derived stem cells to generate cellular models of the neuromuscular junction and use these models to determine the role of mitochondria at the neuromuscular junction.

Alexa Derksen awarded CIHR Canada graduate scholarship doctoral award

MD/PhD student Alexa Derksen was awarded a three-year Canada Graduate Scholarship Doctoral Award (CGS-D) from the Canadian Institutes for Health Research (CIHR). This award provides $35 000 per year for a 3-year term to support Alexa’s PhD project which will investigate GNE myopathy, working to uncover the prevalence of the disease as well as gaining a greater understanding of the disease mechanism in both cellular and animal models.

Dr. Kiran Polavarapu awarded CIHR postdoctoral fellowship award

Postdoc Dr. Kiran Polavarapu was awarded a three-year postdoctoral fellowship from the Canadian Institutes for Health Research (CIHR). This award provides $40 000 per year for a 3-year term to support Kiran’s project: Analysis of non-coding regions and novel gene discovery: Exploring the unknown in inherited neuromuscular disorders.

While more than 600 genes have been identified as causing neuromuscular disorders (NMDs), over 30% of patients remain undiagnosed. Dr. Polavarapu’s project aims to identify disease-causing variants in non-coding regions as well as novel genes in patients with unsolved inherited NMDs using RD-Connect Genome Phenome Analysis Platform (GPAP). A reproducible analysis and interpretation workflow will be developed for non-coding variants. This research work will not only directly resolve diagnosis in more patients and reduce the diagnostic delay, but also provide the foundations for further downstream translational research in novel NMD disease pathomechanisms and therapies.

Ofosu Adjei-Afriyie awarded Canada graduate scholarship master’s award

Master’s student Ofosu Adjei-Afriyie was awarded a Canada Graduate Scholarship Master’s Award (CGS M) from the CIHR. This award provides $17 500 for a one-year term to support Ofosu’s research, focused on insulin resistance in Myotonic Dystrophy Type 1 (DM1).

Ofosu will attempt to further elucidate and characterize the mechanisms that underlie the pathophysiology of insulin resistance in DM1, by investigating how exercise may impact the insulin resistance in DM1 using DM1-afflicted tissue and cellular models of the disease.