Science has no borders – Meet Cécilia Légaré, postdoctoral fellow tackling myotonic dystrophy in Quebec and New York

By Sangeetha Selvam, PhD, The RNA Institute

Cécilia Légaré (PhD) is off to an impressive start as a cross-border postdoctoral fellow with the Berglund lab at UAlbany’s RNA Institute and the Duchesne lab at the University of Quebec at Chicoutimi.  She was recently awarded two postdoctoral fellowships from the Fonds de recherche du Québec and the AFM-Téléthon for her research on the most common cause of adult-onset muscular dystrophy – myotonic dystrophy type 1 (DM1). Understanding this disease and developing effective treatments is the focus of the Berglund and Duchesne labs where Dr. Légaré’s research will be conducted. This disease, which is mostly known for its muscle dysfunction, is highly complex and affects all organ systems.  However, despite the genetic cause for DM1 being identified nearly 3 decades ago, there are currently no effective therapies for the disease and patients often take years to be properly diagnosed.

After completing her doctoral degree earlier this year studying microRNAs and Gestational Diabetes, Dr. Légaré joined the Berglund/Duchesne labs as a postdoctoral fellow to work closely with individuals diagnosed with myotonic dystrophy type 1 (DM1).  Dr. Légaré believes it is important to work collaboratively on DM1 because this form of muscular dystrophy currently only has treatments for the management of some of the symptoms and lacks any approved drugs that targets the disease mechanism. “Being a collaborative postdoctoral fellow between two labs is a very good experience as I have access to the expertise of both Dr. Duchesne and Dr. Berglund as well as their lab members.” Dr. Légaré shared.

Dr. Duchesne added, “I strongly believe in collaboration between experts to better understand the complex and heterogenous nature of DM1.” This cross-border collaboration builds off some interesting similarities between the populations of the state of New York and the province of Quebec. While myotonic dystrophy has an estimated global prevalence of 1 case for every 8000 people, the prevalence in Quebec and New York is much higher.  A recent study using newborn blood spots showed that the genetic mutation responsible for DM1 has a frequency of ~4 cases for every 8000 people in New York. The prevalence in Saguenay-Lac-Saint-Jean region of Quebec, where the University of Quebec at Chicoutimi is located, is ~13 cases for every 8000 people.  This high prevalence of DM1 provides motivation and is the basis behind Dr. Légaré’s research into understanding the mechanisms of DM1 and new approaches that could benefit those people affected by this devastating disorder.

Dr. Légaré is specifically working to identify molecular changes in the leg muscles of DM1 patients who undergo strength training. This research is important because the Duchesne lab showed in 2020 that strength training benefited individuals with DM1. Dr. Légaré’s research project in the Berglund and Duchesne labs is to use Next-Generation Sequencing to determine if changes at the level of gene expression from muscle biopsies correlate with clinical improvements from the strength training. It is this exciting research that enabled Dr. Légaré to win two fellowships. The first fellowship is from the Fonds de recherche du Québec – Santé (Quebec Research Fund-Health) sector and provides two years of support. The second fellowship is from the AFM-Téléthon, which is a French-based patient organization fighting against neuromuscular diseases and rare muscular disorders. This funding will support her research that span the labs of Dr. Berglund, an expert on the RNA dysfunction and DM1, and Dr. Duchesne, an expert on muscle physiology and therapy for DM1 patients.  Both professors speak highly of Dr. Légaré potential as a post-doctoral fellow. “Cécilia has been critical to the success of the collaboration with Professor Duchesne.” stated Dr. Berglund.

The RNA Institute’s summer bioinformatics program was one of the building blocks that enabled this close collaboration.  Dr. Légaré was a participant in the 2022 summer program, which utilizes myotonic dystrophy as a teaching tool for trainees to learn how to analyze the vast biological datasets generated from Next Generation Sequencing. “Using existing research data on DM in our program provides the students with a direct connection to a problem that has real world implications” said Dr. Hannah Shorrock, Director of the summer bioinformatics program. “Cecilia made significant progress over the summer, and I am very excited to see the results of her research”, she commented.  The knowledge that Dr. Légaré gained over the summer will be put to direct use in her research and serves as an excellent example of the power of collaborative science.