The Rare Neurological Diseases Group is the descendant of the Neuromuscular Group founded in the 1960’s by neurologist George Karpati (1934-2009) and pathologist Stirling Carpenter. It is focused on the study of rare neurological diseases defined as having a prevalence of less than 1:2000. The majority of conditions studied affect muscle, such as muscular dystrophies, and the peripheral nervous system, such as ALS and Charcot-Marie-Tooth (CMT) polyneuropathies. However, a growing number of conditions studied have also central nervous system or other organ involvement such as ataxias, leukoencephalopathies and mitochondrial disorders. The Group has a major focus on understanding the role of mitochondria in health and disease. It is a leading Canadian centre in neuromuscular and neurogenetics practice, training and research. The Group integrates clinical practice, electrophysiology, pathology, imaging, training and research, and is composed of 5 basis scientists, 3 clinician-scientists, 4 clinicians and over 40 research personnel and trainees. The group is committed to work on all rare or orphan neurological diseases from the investigation of patients, the identification of causal genes using the most recent next generation sequencing methods, the study of cellular pathology, the development of animal models, and the search for treatment to the participation in preclinical and clinical trials.
Primary Group Members