Can-GARD/CCMG – The Leading Strand Series September 2022

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Seeking Equity For Precision Diagnosis Through The Silent Genome Project-governance, Diagnostic And Bioinformatic Highlights With The Introduction Of Cafe (cohort Allele Frequency Estimation Pipeline).

Summary:
Drs Arbour and Wasserman will provide an overview of the progress of Silent Genomes Project to date including governance, diagnostic and bioinformatic highlights on the path to build a sustainable Indigenous Background Variant Library.

Objectives:

  1. Identify on-going barriers to achieving equitable genetics/genomics care for Indigenous patients.
  2. Describe challenges and potential solutions presented through the Silent Genome Project to provide equitable precision diagnosis for Indigenous patients.
  3. Learn about a protected, sustainable solution to housing Indigenous specific genomic reference data in Canada.

This series is for genetics health professionals led by the Canadian College of Medical Genetics and co-sponsored by Can-GARD. Speakers will be translation-focused researchers, clinicians and innovators.  The series will help attendees anticipate, access, and apply new approaches and technologies for patient care.

Dates

September 23
October 28
November 25
December 16
January 27
February 24
March 31
April 28
May 26
June 30

Click HERE to register.

Speaker bios

Dr. Laura Arbour is a Professor in the Department of Medical Genetics at the University of British Columbia, situated at the Island Medical Program on Vancouver Island. Trained as both pediatrician and clinical geneticist (McGill University) her multifaceted Community Genetics Research Program addresses rare, single gene disorders and complex conditions affecting Indigenous people. Her clinical practice encompasses rare genetic disease diagnosis and cardio-genetics. Her Northern BC work on Long QT syndrome led to the development of the BC Inherited Arrhythmia Program (BCIAP) for all British Columbians with inherited arrhythmias. She is also the project lead on a Genome Canada/Genome BC/CIHR funded Large Scale Applied Research Project, entitled “Silent Genomes: Reducing health-care disparities and improving diagnostic success for Indigenous children with genetic disease” which aims to address the challenges of equitable access to genetic/genomic diagnosis and care for Canadian Indigenous populations.

A professor in the Department of Medical Genetics at the University of British Columbia and based at BC Children’s Hospital, Dr. Wyeth Wasserman’s computational biology research focuses on the analysis of the human genome. His laboratory conducts research in two overlapping domains: the control of gene activity and the identification of the causes of rare genetic disorders. His lab created the JASPAR database and a wide range of software which are used globally to identify the “on/off” switches in genes. Since low-cost DNA sequencing became accessible for patients, his team works closely with clinicians at BC Children’s Hospital to discover the genetic causes impacting patients and families. He is a co-lead for the Silent Genomes Project and the lead for Activity 3, the Development of an Indigenous Background Variant Library.

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