Sessions Descriptions

Sessions

Human pathology revisited through clinical genomics - Fowzan Sami Alkuraya

At the end of the session, the participants will be able to:

  • Describe how clinical genomics can reveal novel pathological mechanisms of known human diseases.
  • Associate how the discovery of novel disease genes and syndromes will provide novel insights into the structure and function of the human body.
  • Restate how clinical genomics can define the “druggable” genome to accelerate the development of novel therapeutics for human diseases. Describe the social and psychological experiences of people of all ages and ethno-cultural heritages living with genetic, physical, behavioral and cognitive conditions.

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Tumor-First Testing Workshop: Somatic and Germline Cancers - Tracy Stockley

At the end of the session, the participants will be able to:

Recently new cancer drugs have been approved in Canada that are active in cancer patients with either somatic (acquired) or germline (inherited) BRCA variants. One effective approach to capturing all BRCA-positive patients who may benefit from such treatment is to test the tumor tissue first, as this will identify both somatic and germline BRCA mutations. However this new approach also provides challenges, such as the best methods for tumor testing, how to investigate and report the significance of variants identified in tumor tissue, and how to include clinical genetics in the confirmation of germline variants and subsequent management of patients with inherited variants. This workshop will use interactive case examples to discuss the current issues in tumor-first testing for somatic and germline cancers.

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Coding Variants Without Coding: The Clinical Geneticist and the .vcf file - William Gibson

At the end of the session, the participants will be able to:

As the number of patients who remain unsolved after NGS panels and exomes increases, clinical geneticists and diagnostic laboratories face a challenge in managing data generated on their patients by external service providers. In theory, best practice would be to request, store and reanalyze variant files when novel diagnoses appear in the literature and/or candidates emerge via GeneMatcher. However, resources to do this in a systematic way are not ubiquitous. This workshop will address these challenges and will provide worked examples of how to analyze .vcf files using tools available on the web. Facility with Linux and command-line code not required.

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Mitochondrial Diseases: Genetics, Diagnostics and Ethics.
Chair: Mark Tarnopolsky

Mark Tarnopolsky (40 mintues):  Mitochondrial cytopathies—overview and treatment options. 

At the end of the session, participants will be able to:

1. Describe mitochondrial biology and pathophysiology.
2. Develop a clinical approach to the diagnosis of mitochondrial disease.
3. Choose treatment options for patients.

Lauren MacNeil (20 Minutes):  Biochemical enzyme testing for mitochondrial diseases in the era of molecular testing.

At the end of this session, participants will be able to:

  1. Relate ro currently available biochemical laboratory tests to mitochondrial function
  2. Identify how molecular genetic analysis has changed the ordering of biochemical testing
  3. Describe limitations to the expansion of biochemical testing for mitochondrial disease

Stacey Hume (20 Minutes): The science behind diagnosing and preventing mitochondrial disorders.

At the end of the session, participants will be able to:

1. Contrast the molecular analysis of a gene encoded by the nucleus vs. the mitochondria.
2. Classify mitochondrial genome variants.
3. Describe the mitochondrial replacement techniques available and review the technical challenges that have been reported

Forogh Noohi (20 mintues): Ethical and Legal Implications of Mitochondrial Replacement Therapy (MRT).

At the end of the session, participants will be able to:

  1. Analyze the most important controversies surrounding Mitochondrial Replacement Therapy (MRT) (in both research and clinical context)
  2. Describe the most cited challenges in the literature for clinical translation of MRT
  3. Contrast MRT’s ethical, policy, and legal frameworks of Canada vs. the UK and the US  

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