The Genetics of Craniofacial Abnormalities

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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. The Embryology of Normal and Abnormal Craniofacial Development

Speaker:
Dr. Kathleen Sulik,
Cell Biology and Physiology, UNC School of Medicine, University of North Carolina, Chapel Hill NC

Objectives: At the end of this session, participants will be able to:
1. Summarize major developmental events preceding lip and palate closure.
2. Discuss the developmental relationships between the face and brain.
3. Discuss gene/environment interactions as a basis for craniofacial malformations.
4. Discuss the developmental basis for commonly occurring as well as unusual facial clefts.

  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. Coffin-Siris and Nicolaides-Baraitser syndromes and related disorders

Speaker: Dr. Dagmar Wieczorek,
University of Dusseldorf, Dusseldorf Germany

Objectives: At the end of this session, participants will be able to:
1. List the clinical findings for both syndromes.
2. Summarize the genes causative for both syndromes.
3. Discuss and compare differential diagnoses.

  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. Nager and CCMS syndromes: Prototypical Spliceosomomathies

Speaker:
Dr. G. Francois Bernier,
Associate Professor, Department of Medical Genetics; Director, Clinical Genetics, Alberta Children's’ Hospital, Calgary AB

Objectives: At the end of this session, participants will be able to:
1. Describe the cardinal clinical features of Nager and CCMS syndrome.
2. Describe the genetic basis of these spliceosomopathies , with an emphasis on genetic counselling.
3. Discuss potential links between splicing and craniofacial and skeletal development.

  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. Ribosomopathies and spliceosomopathies - an update

Speaker:
Dr. Dagmar Wieczorek,
University Clinic Düsseldorf, Heinrich-Heine-University

Objectives: At the end of this session, participants will be able to:
1. List conditions belonging to the ribosomopathies and spliceosomopathies.
2. Explain the clinical features of ribosomopathies and spliceosomopathies.
3. Summarize causative genes.
4. Compare different conditions belonging to ribosomopathies and spliceosomopathies.

  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. The importance of global matchmaking to define new genetic syndromes: Examples from craniosynostosis

Speaker:
Dr. A. Micheil Innes,
Department of Medical Genetics, Alberta Childrens’ Hospital, Calgary AB

Objectives: At the end of this session, participants will be able to:
1. Discuss the importance, and various examples, of global matchmaking as a means to new gene discovery.
2. List the clinical features associated with de novo loss of function mutations in HNRNPK (Au-Kline syndrome).
3. List the clinical features associated with autosomal recessive mutations in DPH1 (DEDSHH, Loucks-Innes syndrome).

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

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

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* 10. General comments about individual speaker:

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

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