WES and Metabolic and Mitochondrial Diseases

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* 1. Please assess the Sessions overrall

  Strongly Disagree Disagree Neutral Agree Strongly Agree
Sufficient time was allowed for audience participation/active learning
The facilities were satisfactory
The session was free from commercial bias
Overall, I would rate this Symposium as excellent

Please assess each Speaker by their Session:

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* 2. Molecular Diagnostics in the Integrated Approach to Mitochondrial Disease

Speaker: Grant Mitchell 
Service de génétique médicale, Hôpital Ste-Justine, Montréal QC

Objectives: At the end of this session, participants will be able to:
1. Explain the differences in molecular diagnostics of diseases due to mitochondrial DNA mutations and those due to nuclear DNA mutations.
2. Summarize the criteria for assigning the pathogenicity of nuclear mutations in mitochondrial disease.
3. Explain the importance of tissue heteroplasmy in determining the phenotype of diseases of mitochondrial DNA. 4. Discuss the use of molecular diagnosis with respect to clinical and biochemical evaluations of the patient and of patient samples.

  Poor Fair Good Very Good Outstanding
Clarity of Voice
Met Stated Objectives
Balanced & Unbiased
Relevant to Practice Overall
Time for Active Learning

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* 3. Molecular Diagnostics in the Integrated Approach to Mitochondrial Disease

Speaker: Jean-François Soucy 
CHU Sainte-Justine, Hôpital Ste-Justine, Montréal QC

Objectives: At the end of this session, participants will be able to:
1. Explain the differences in molecular diagnostics of diseases due to mitochondrial DNA mutations and those due to nuclear DNA mutations.
2. Summarize the criteria for assigning the pathogenicity of nuclear mutations in mitochondrial disease.
3. Explain the importance of tissue heteroplasmy in determining the phenotype of diseases of mitochondrial DNA. 4. Discuss the use of molecular diagnosis with respect to clinical and biochemical evaluations of the patient and of patient samples.

  Poor Fair Good Very Good Outstanding
Clarity of Voice
Met Stated Objectives
Balanced & Unbiased
Relevant to Practice Overall
Time for Active Learning

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* 4. Molecular Diagnostics in the Integrated Approach to Mitochondrial Disease

Speaker: Julie Gauthier 
CHU Sainte-Justine, Hôpital Ste-Justine, Montréal QC

Objectives: At the end of this session, participants will be able to:
1. Explain the differences in molecular diagnostics of diseases due to mitochondrial DNA mutations and those due to nuclear DNA mutations.
2. Summarize the criteria for assigning the pathogenicity of nuclear mutations in mitochondrial disease.
3. Explain the importance of tissue heteroplasmy in determining the phenotype of diseases of mitochondrial DNA. 4. Discuss the use of molecular diagnosis with respect to clinical and biochemical evaluations of the patient and of patient samples.

  Poor Fair Good Very Good Outstanding
Clarity of Voice
Met Stated Objectives
Balanced & Unbiased
Relevant to Practice Overall
Time for Active Learning

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* 5. Neurodegeration when iron is the culprit

Speaker: Patrick MacLeod 
Medical Genetics, Department Office, University of British Columbia, BC

Objectives: At the end of this session, participants will be able to:
1. Summarize the biology of iron metabolism
2. Discuss the role of iron in the brain
3. Discuss the various forms of neurodegeneration with brain iron accumulation
4. List the genes involved in NBIA

  Poor Fair Good Very Good Outstanding
Clarity of Voice
Met Stated Objectives
Balanced & Unbiased
Relevant to Practice Overall
Time for Active Learning

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* 6. Peroxisome biogenesis disorders and related single enzyme defects: clinical updates and pre-clinical approaches to targeted therapies.

Speaker: Nancy Braverman 
McGill University, Montréal QC

Objectives: At the end of this session, participants will be able to:
1. Integrate newly described peroxisome disorders
2. Formulate a diagnostic model for the different peroxisome disorders
3. Describe new contributions to peroxisome biology
4. Appraise preclinical approaches to therapy

  Poor Fair Good Very Good Outstanding
Clarity of Voice
Met Stated Objectives
Balanced & Unbiased
Relevant to Practice Overall
Time for Active Learning

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* 7. Mitochondrial Diseases: Whole exome sequencing and beyond.

Speaker: Eric Shoubridge 
McGill University, Montréal QC

Objectives: At the end of this session, participants will be able to:
1. Maximize success of finding genetic defects by WES
2. Validate variants of unknown significance
3. Use modern tools for interrogating mitochondrial interactomes

  Poor Fair Good Very Good Outstanding
Clarity of Voice
Met Stated Objectives
Balanced & Unbiased
Relevant to Practice Overall
Time for Active Learning

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* 8. As a result of attending this session, I am planning to:

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* 9. Please explain any changes you plan to make or personal learning projects you will pursue as a result of this session:

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* 10. Please indicate which CanMEDS roles you felt were addressed during this educational activity. (Select all that apply)

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* 11. General comments about individual speaker:

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* 12. What topics would you like to be addressed at future conferences to keep you up to date in your profession?

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