Our faculty includes four medical geneticists: Drs. Lauren Badalato, Andrea Guerin, Alison Rusnak and Jagdeep Walia. In addition to providing clinical care for patients with genetic disorders, they conduct basic science and clinical research in pediatric and adult populations.
Dr. Walia’s gene therapy lab has attracted major research funding to study the development of novel therapeutics for genetic disorders. One of these is GM2 gangliosidosisis, a condition that destroys nerve cells in the brain and spinal cord. A clinical trial of gene therapy for treating infantile onset GM2 gangliosidosis is now under way, supported by funding from Taysha Gene Therapies Inc. and GlycoNet.
Dr. Badalato is leading a chart review study to determine the clinical utility of routine genetic testing among adults with an intellectual disability. This work is supported by an internal grant from the Faculty of Health Sciences (Botterell, Howe and Powell funds). She is also a site investigator on several multi-centre genomic studies aimed at improving the diagnosis and care of patients with rare diseases (Care4Rare Solve; EpiSign-CAN) and Silent Genomes, a project whose goal is to reduce health care disparities and improve diagnostic success for Indigenous children with genetic diseases.
Other research activities include the following:
- Examining genomic, epigenetic and metabolomic profiles of children with autism spectrum disorder
- Case reports of rare genetic presentations