Contact info

Dr Grant Mitchell
Service de G�n�tique M�dicale
CHU Sainte-Justine
3175, Chemin de la C�te Ste-Catherine
Montr�al, QC H3T 1C5

Tel: 1-514-345-4727
Fax: 1-514-345-4766
E-mail: [email protected]

Research keywords

I have always been fascinated by how gene mutations affect function and health. I specialized in biochemical genetics, a field that is devoted to this question. I was fortunate to train with outstanding mentors in Canada and abroad in clinical and molecular genetics of metabolic diseases and then to be offered employment at the largest university center in Quebec that follows patients with inborn errors of metabolism. This has allowed me to perform fundamental research in various areas of metabolism.

From 2000 to 2011 I served as Division Head fo Medical Genetics. These 10 years were a diversion from my principal activities but came at a crucial juncture for genetics in Quebec during which our Division took on its modern form. During this time our physician staff more than doubled, genetic counsellors were introduced to our center, we developed a training program for counsellors, we gained Canadian College of Medical Genetics certification for molecular and biochemical genetic testing and also were granted the privilege of training CCMG fellows in all four disciplines (molecular, biochemical, cyto- and clinical genetics). This period started shortly after the recognition of Medical Genetics as a specialty by the Royal College and at the provincial level in Quebec. Our center obtained certification for residency training. There was a critical shortage of medical geneticists and of qualified PhD laboratory directors at the time; many of our trainees are now leaders in medical genetics in Quebec and elsewhere. A major time commitment was necessary. The training programs began to alleviate the shortage of medical geneticists in Quebec. Our institution made important contributions to these major changes in Medical Genetics in Quebec during this period. I emphasize that these results represent a team effort that relied on many colleagues in Medical Genetics. During my tenure as Division head, I could not devote the customary effort to research and academic clinical medicine. When it became possible to step down as Division head in favor of an energetic young colleague, I was able to return to full time work as a physician-researcher, concentrating on patient care, molecular diagnostics and restarting my research programs. We are again starting to make fundamental contributions to the field of lipid energy metabolism.

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Thanks to the enormous potential of Quebec population genetics and to collaborators from around the province, I have gained in-depth experience with many inborn errors that are Quebec genetic diseases, more frequent in Quebec than elsewhere because of genetic founder effects. For several such conditions I have contributed to genetic discoveries, to offering precise molecular diagnosis, to description of the clinical spectrum and to therapeutic trials. I am an editor and contributor for a standard text of inborn errors (Online Molecular and Metabolic Bases of Inherited Disease), and a contributor to standard texts in pediatrics (Nelson) and pediatric hepatology (Suchy).

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In clinical research we are exploiting the great possibilities of Quebec-wide cohorts for French-Canadian and other founder diseases, with colleagues from across Quebec. This provides many advantages both for science and for patient care, including the use of the largest possible and most homogeneous cohorts to yield the most complete and precise descriptions of disease spectra, optimized power on therapeutic trials and rapid precise molecular diagnosis using Quebec founder mutations. My fundamental research publications concentrate mainly on lipid energy metabolism and my clinical publications, on Quebec genetic metabolic diseases.