Speakers:
Dr. Steven Erwood
Dr. Andreas Schulze
Dr. Kenneth Myers
Dr. Daniela Buhas
An Approach to Disease-agnostic Therapeutic Genome Editing
Speaker: Dr. Steven Erwood
Suppressor tRNAs provide a strategy to restore protein function by enabling translational readthrough of premature stop codons, a common class of disease-causing mutations. In this presentation, I will describe the development of engineered suppressor tRNAs identified through large-scale screening of human tRNA sequences and their installation at endogenous genomic loci using prime editing. This approach enables efficient rescue of protein expression across multiple disease-relevant models without the need for mutation-specific therapies. The results highlight a disease-agnostic framework for treating genetic disorders caused by nonsense mutations and demonstrate how genome editing can be leveraged to reprogram fundamental aspects of translation.
At the end of the session, participants will be able to:
- Evaluate the potential of suppressor tRNA–based approaches for restoring protein function in genetic disease
Steven Erwood, Ph.D., is a Banting Postdoctoral Fellow at the Broad Institute of Harvard and MIT, where he works with David R. Liu to develop next-generation genome editing technologies. His research focuses on engineering base and prime editing systems to enable disease- and mutation-agnostic therapeutic strategies, particularly for the correction of nonsense mutations.
Dr. Erwood completed his Ph.D. in Molecular Genetics at the University of Toronto, where he pioneered scalable approaches for variant interpretation using CRISPR prime editing and developed functional assays for human disease genes.
The Emerging Role of MRNA in the Treatment of Inborn Errors of Metabolism
Speaker: Dr. Andreas Schulze
The presentation will give a general overview of current and future applications of mRNA therapies for patients with inborn errors of metabolism. Special focus will be the experience of current mRNA trials for the treatment of propionic acidemia and methylmalonic acidemia.
At the end of the session, participants will be able to:
- Identify applications for mRNA therapies.
- Distinguish mRNA therapies from gene therapies.
- Reflect on pros and cons of mRNA therapies.
Target Audience: Clinical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees, Molecular Pathologists, Medical Lab Technologists, Industry
CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Health Advocate, Leader, Professional, Scholar
Dr. Andreas Schulze is Professor of Paediatrics and Biochemistry at the University of Toronto. He is Medical Director of the Newborn Screening Program and Senior Associate Scientist in the Research Institute at the Hospital for Sick Children. He is board certified in Physiological Biochemistry and Pediatrics. After graduating from Med School with medical diploma and doctorate at the University of Leipzig, Dr. Schulze completed a PhD program in Physiological Biochemistry with summa cum laude. At Ruprecht-Karls University Heidelberg, he received training in Pediatrics, wrote a Professorial Thesis (Habilitation), and received the Venia Legendi. Since 2007, Dr. Schulze has worked as Clinician Scientist at SickKids in Toronto and established his own research program at the SickKids Research Institute. His research encompasses creatine deficiency syndromes, creatine homeostasis including arginine-, ornithine-, and guanidino compound metabolism, and drug discovery.
Pyrimidine Deoxynucleoside Treatment Of Polg-related Disorders
Speakers: Dr. Kenneth Myers & Dr. Daniela Buhas
This presentation will summarize the data from an ongoing open-label clinical trial using the pyrimidine deoxynucleosides, deoxycytidine and deoxythymidine, in the treatment of POLG-related disorders. Will present the clinical pictures for mitochondrial depletion syndromes, including POLG. Also the rationale for dTdC treatment.
At the end of the session, participants will be able to:
- Cite the available evidence regarding the safety and efficacy of pyrimidine deoxynucleosides in the treatment of POLG-related disorders.
- Understand the possible role of dT dC in treating mitochondrial depletion syndromes
Target Audience: Clinical Geneticists, Genetic Counsellors , Trainees
CanMEDS Roles: Medical Expert (the integrating role), Collaborator, Health Advocate, Leader, Scholar
Dr. Myers is a pediatric neurologist clinician-scientist at Montreal Children’s Hospital (McGill University). After completing his MD, PhD, and Pediatric Neurology Residency at the University of Calgary, he moved to Melbourne, Australia for a 2-year fellowship in epilepsy genetics. He has been at Montreal Children’s Hospital since 2017, conducting research focused on epilepsy genetics and rare disease clinical trials, and has published over 150 articles in peer-reviewed journals. He is currently the director of the Comprehensive Epilepsy Program and will take over as director of the Division of Pediatric Neurology in July.
A native of Romania, Dr Daniela Buhas received her MD from the University of Medicine and Pharmacy in Craiova, after which she completed residency in Medical Genetics at CHU Ste-Justine Hospital and fellowship in Biochemical Genetics at McGill University Health Center (MUHC).
Dr Buhas is currently Associate professor at University McGill, and for the last decade she has been actively involved in seeing both children and adults with general genetic and metabolic conditions. Dr Buhas started specialized clinics in mitochondrial disorders at MUHC in 2012 and since 2025 she is the director of Liam Mitochondrial Center. She is also Director of Biochemical Genetics Laboratory at MUHC Optilab and a member of the Division of Biochemistry. Alongside her clinical practice, Dr Buhas conducts clinical research in the areas of treatment for mitochondrial disorders, other inborn errors of metabolism and oculogenetics.
Event Timeslots (1)
Day 2
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Speakers: Dr. Steven Erwood, Dr. Andreas Schulze, Dr. Kenneth Myers, and Dr. Daniela Buhas
