Faculty in Biology
Francis Choy, Professor
Office:CUNN 062 Office Phone: 250-721-7107
Teaching: Genetics, Molecular Genetics.
Molecular genetics and enzymology of lysosomal storage diseases; molecular evolution of ß-glucosidase gene among primates.
My research is focussed on the molecular biology and biochemistry of lysosomal enzymes, and their implications in lipid metabolism and mental function. I have chosen glucocerebrosidase (acid ß-glucosidase) as a model for my study. Glucocerebrosidase is of interest to me because its activity is profoundly deficient in an inherited metabolic disorder known as Gaucher disease prevalent among human, canine, and rodent species.
The natural substrate of glucocerebrosidase is glucocerebroside, a ubiquitous lipid present in the plasma membrane of all mammalian cells. It is not well understood why deficient activity of apparently the same enzyme will result in very different forms of Gaucher disease, varying from the non-neuronopathic and occasionally asymptomatic type 1 form to the devastating type 2 form that results in death before two years of age.
My research objectives are to identify and characterize the various mutations from fibroblast cell lines of patient with different clinical subtypes, express the mutant enzyme using various protein expression systems, and correlate the nature of the genetic defect(s)at the DNA level to the biochemical defect(s) at the protein-enzyme level. Data obtained will be useful towards a better understanding of the role of lysosomal enzyme in lipid metabolism, and in genetic counselling as well as developing enzyme- and gene-replacement therapies.
Since a pseudogene that shares 96% sequence similarity is found proximal to the functional gene in human, we are surveying and characterizing the pseudogene among primates and other mammalian species in order to understand more about its molecular evolution.
Members of the Choy laboratory, April 2013
From left to right:
Olivia de Geode, Honours Thesis student; Laura Sutherland, Honours Thesis student; Alexandria Jack, Research Associate and lab manager; Francis Choy, principal investigator; Iris Yip, Work-Study student; Jason Chiu, visiting student; Glynis Byrne, Honours Thesis student; Geoffrey Morris, Ph.D. student
Update since 2013
Congratulations to Alexandria and Laura on their admission to study medicine at UBC and U Manitoba, and Olivia to graduate study in Medical Genetics at UBC. We welcome Kelly Turner (Honours Thesis student), Janmei He (Work-Study student), Rhea Ashmead and Anique Le Roux (Directed Research students), and Kourtnee Hoitsema (Research Technician) to our laboratory.
Update since 2011:
Congratulations to Rebecca Jantzen and Alexandria Jack for their successful M.Sc. thesis defenses, and to Sarah Truelson on her admission to study Medicine at UBC. Upon graduation, Rebecca joined the Department of Psychiatry, Hospital for Sick Children, University of Toronto as Research Coordinator in Autism Research and we wish her continuous success.
Members of the Choy laboratory, April 2011
From left to right:
Sarah Truelson, Honours Thesis student; Rebecca Jantzen, M.Sc. student; Francis Choy, principal investigator; Alexandria Jack, M. Sc. student; Lin Sun, Ph.D. student; Michael McLean, Honours Thesis student; Emily MacKay, Directed Research student; and Vincent Li, Work-Study student.
April Goebl, a former M. Sc. student in the Choy laboratory, defended her thesis successfully in the summer of 2010 and joined the laboratory of Dr. Carlos Delmonte at the Salk Institute, California in stem cell research. We wish her continuous success in her research and career development.