About this series – Telehealth for Genetics Residents and Fellows. A monthly teaching session brought to you by the members of the RCPSC Specialty Committee in Medical Genetics.
To register, click the button below or go to https://us06web.zoom.us/webinar/register/WN_7trryYsQRROjpvFp0VoSHw.
2024-2025 TeleGraf from 11:00am – 12:00pm ET, scheduled dates are:
Friday, October 18, 2024
Friday, November 15, 2024 – to be rescheduled
Friday, December 20, 2024
Friday, January 17, 2025
There will be 2 TeleGraf presentations on January 17th.
11:00-12:00 – Alkaptonuria: Review of Its Chronic And (rare) Acute Complications
Alkaptonuria was one of Garrod’s original four inborn errors of metabolism. Chronic complications of the condition are well
recognized and there is some evidence to inform management approaches. However, acute complications of Alkaptonuria are
rare and poorly recognized. In this presentation I will review Alkaptonuria with a focus on rare acute presentations of the
disease.
Speaker: Dr. Chris Smith
Bio
Dr. Chris Smith was born and raised in Calgary, Alberta, where he undertook the majority of his training and presently resides.
He earned a Bachelor of Health Sciences from the University of Calgary before matriculating to the Cumming School of
Medicine Leaders in Medicine Program, graduating from the combined MD/MSc program in 2019. He completed a 5-year Royal
College Residency in Medical Genetics & Genomics at the Alberta Children’s Hospital. Now in his first year of practice Dr. Smith
practices in pediatric and prenatal genetics while training part time in clinical biochemical genetics.
12:30-1:30 – The Launch of the Silent Genomes Indigenous Background Variant Library: Building the Path to Genetic and Genomic Equity for Indigenous Patients.
At the end of this session, participants will be able to:
- identify three contributors to health disparity for genetic diagnosis and genetic health care in Canada.
- cite the Global Indigenous Data Alliance Care Principles for upholding Indigenous Rights and Interests in the context of genomic data.
- have the tools to access the Silent Genomes Project Indigenous background variant library to obtain variant frequency information for their Indigenous patients.
Speaker: Dr. Laura Arbour
Bio
Dr. Laura Arbour. MSc, MSc, MD, FRCPC, FCCMG is a Professor in the Department of Medical Genetics at the University of British Columbia situated at the Island Medical Program in Victoria BC where she is also a clinician. Trained as both pediatrician and clinical geneticist, she has been addressing the genetic determinants of health with Indigenous populations for more than three decades. Through her UBC Community Genetics Research Program she has focused on rare, single gene disorders and complex conditions in partnership with First Nations of BC and Inuit of Nunavut. Her research has been continuously funded since 2004 through such funders as the Canadian Institutes of Health Research, Genome Canada, Genome BC including the recent Silent Genomes Project (2018-2024), co-led by Dr’s Wyeth Wasserman and Nadine Caron addressing inequity in genomic diagnosis for Indigenous patients of Canada.
Friday, February 21, 2025
Friday, March 21, 2025
Friday, April 11, 2025
Friday, May 16, 2025
Friday, June 20, 2025
