CSB Seminar: Prof. James Dowling, Staff Physician, Hospital for Sick Children, Senior Scientist, Genetics and Genome Biology, Department of Molecular Genetics, University of Toronto

Departmental Seminar

“Swimming toward therapy: zebrafish and the quest for drug discovery in rare genetic diseases”

Host:  Prof. Vince Tropepe  <v.tropepe@utoronto.ca>

Abstract:

There are over 7000 rare diseases, and they affect more than 1 million Canadians. Advances in genomics have led to an unprecedented understanding of the genetic basis of rare disease, though despite this nearly half of all patients with genetic disorders do not yet have an identified gene mutation. More importantly, there estimated to be less than 500 therapies for these 7000 diseases, with the vast majority of conditions without any meaningful treatments.  My research program has set out to tackle these barriers.  We have used the zebrafish model system as our main solution.  In this seminar, I will discuss our use of zebrafish for rare disease gene discovery and therapy identification.  I will present specific examples of our successes, and discuss where we have encountered challenges.  Most of our work has centered on understanding and treating human muscle diseases, though the discussion will be framed around how these studies are potentially broadly applicable to most/all rare diseases.