麻豆AV

Genetics Presentations

Nephro-Genetics for Kidney Disease

Thomas Kitzler is an Assistant Professor at the Department of Human Genetics at 麻豆AV and a clinical geneticist with the Division of Medical Genetics at the 麻豆AV Health Centre (MUHC) and Jewish General Hospital (JGH). He is a recently appointed junior scientist to the Child Health and Human Development Program (Centre for Translational Biology) at the Research Institute of the MUHC. Dr. Kitzler鈥檚 research focuses on the study of genetic causes of chronic kidney disease by combining whole-exome sequencing information with CRISPR/Cas9 gene-editing technology in patient-derived cell- and zebrafish animal models, for the development of new prevention and treatment strategies of chronic kidney disease. After graduating at the University of Graz, Austria, he spent several years conducting both clinical and basic research in chronic kidney disease at the Renal Research Institute, New York and at 麻豆AV, Montreal. Following his medical residency training at 麻豆AV Health Centre, he completed a two-year research fellowship in Nephrogenetics at Boston Children鈥檚 Hospital - Harvard Medical School before returning to Montreal.

Learning Objectives:

1. Recognize when to consider genetic testing in patients with kidney disease
2. List the most common genetic causes of kidney disease
3. Give examples of how genetic testing may influence treatment and management in patients with kidney disease

Overview of Direct to Consumer Genetic Testing

Dr John J. Mitchell is a pediatric endocrinologist and metabolic geneticist at the Montreal Children鈥檚 Hospital. He is also an associate professor at 麻豆AV. He specializes in the treatment of inborn errors of metabolism.

Dr. Mitchell graduated from the University of British Columbia in 1998 and completed his pediatric training at 麻豆AV. He then completed fellowships in pediatric endocrinology (麻豆AV) followed by a second fellowship in genetic metabolic medicine (Children鈥檚 Hospital, Westmead, Sydney, Australia).

He teaches genetic counseling, medical genetics, and population screening at 麻豆AV and supervises fellows, pediatric residents, and medical students in both clinical genetics and clinical endocrinology at the Montreal Children鈥檚 Hospital. He serves as the principal investigator on several clinical trials on hyperinsulinism, glycogen storage disease and lysosomal storage disorders. He is the lead investigator on cutting edge therapeutics including enzyme replacement therapy and gene therapy studies.

Dr. Mitchell has published over 80 peer-reviewed articles written 3 book chapters, co-authored 4 treatment guidelines, and presented at numerous congresses and international meetings. His areas of expertise include genetic screening, diagnosis and treatment of inborn errors of metabolism in children, and pediatric hypoglycemia.

Learning Objectives:

1. Understand what genetic information is provided by direct to consumer testing (DTC)
2. Understand the limitations of DTC testing
3. Be comfortable in how to respond to patient questions regarding DTC testing

Standard Genetic Approach to Children with Autism

Dr. Mucha is a medical geneticist specialized in prenatal genetics and the care of children with congenital malformations and intellectual disability. She attended medical school at the Albert-Ludwigs University in Freiburg, Germany. She completed her training in the US and Canada, with her pediatric residency at Albany Medical Centre in New York, genetics fellowship at the Children鈥檚 Hospital of Philadephia and at Sainte Justine Hospital at the Universit茅 de Montreal.

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Learning Objectives:

1. Name the elements of the basic genetic work-up for individuals with autism spectrum disorder (ASD)
2. List potential additional investigations that may be offered by a medical geneticist on a case-by-case basis
3. Understand the limits of currently available testing strategies
4. Understand the impact that the results of genetic testing may have on the individual with ASD and their family