CCS News
Research Project Aims to Study DNA Changes Linked to HCM, Causes, and Response to Current Treatments
September 17, 2024
Dr. George Anene-Nzelu, an Assistant Professor at the Montreal Heart Institute and the Department of Medicine at the University of Montreal, is the recipient of a CCS-Bristol Myers Squibb HCM Research Fellowship Award for his project, Functional Validation of HCM-Associated Pathogenic Variants.
Dr. Anene-Nzelu completed his medical degree in Havana, Cuba and his PhD from the National University of Singapore (NUS). He continued as a postdoctoral fellow with Professor Roger Foo in the Heart Failure Epigenomics and Molecular Epigenetics Lab at NUS before moving to Montreal to set up his own lab. His research focuses on understanding the role of genetic variants in cardiac development and disease.
We spoke with Dr. Anene-Nzelu about his research on Hypertrophic Cardiomyopathy (HCM) and how genetic studies in Quebec patients with HCM have identified DNA changes linked to the disease. His research aims to study how these changes cause HCM and their response to current treatments.
Q: Could you begin by telling us what attracted you to this area of research?
A: Hypertrophic Cardiomyopathy is the most common genetic disorder of the heart and is a major cause of sudden death in young athletes; however, the underlying genetic cause of most HCM cases remains unknown. Given the availability of genetic sequencing data both locally in Quebec, Canada and globally, it is now possible to comb through this data and identify novel genetic variants and genes involved in HCM.
Q: How did this project get started?
A: The genetics clinic at the Montreal Heart Institute, directed by Dr. Rafik Tadros, is leading efforts at unravelling the genetic causes of HCM. Given our lab’s expertise in studying cardiomyocyte biology using pluripotent stem cells, we collaborated with Dr. Tadros to identify new potentially pathogenic genetic variants that are prevalent in the French-Canadian population.
Q: Can you walk us through what your project entails?
A: First, Dr. Tadros’ genetic clinic identified previously unstudied genetic variants that are prevalent in French Canadian HCM patients. To study if these variants are deleterious, we will create these genetic alterations in human stem cells and then make cardiac cells from the stem cells. After making the cardiac cells, we will assess different cardiac functions and see which ones are altered thanks to the variants.
Q: What knowledge gap will this fill?
A: This study will be very useful to verify if these genetic variants that are found in about 10% of French Canadians with HCM are disease-causing. If so, it will be used to provide life-saving genetic counselling to other people with these variants.
Q: What does this fellowship award mean to you, personally?
A: It means a lot for my career. As an early career researcher who just got his first students over a year ago, this is my first fellowship, and I hope it opens doors to more awards.
Q: Tell us about your research team
A: My research team is currently made up of one Postdoctoral fellow, Dr. Koslowski Svenja, and one PhD student, Mr. Marouane Benzaki. We also have 2 MSc students: Mr. Yonglin Zhu and Mr. Talal Fawaz, as well as one intern, Ms. Ghadir Chouman.