Course Outline

Sample Program: Day 1 Adult Medicine & Paediatric Program

Genetics Basics

8:30 am - 9:30 am From DNA to genome, gene expression and mutation

DNA language and code changes

Gene Disorders & Variation

9:30 am - 10:30 am Single gene, polygenic and chromosomal disorders

Non-mendelian disorders: epigenetics, imprinting, other variations

Genetic Tests

11:00 am - 12:00 am Karyotypes, microarray, FISHing & more

New tests: total genomic sequencing and beyond

Inheritance Patterns

1:00 pm - 2:00 pm Recognising inheritance patterns & pedigrees

Carrier frequencies and risk calculations

Neurogenetics & Important Syndromes

2:00 pm - 3:00 pm Neurogenetics & common neurocutaneous syndromes

5 syndromes every physician must know

Cancer Genetics & Familial Cancer Syndromes

3:30 pm - 4:30 pm Familial Cancer Syndromes: breast, bowel and beyond

Treatments and family implications

Adult Trainees Practice Exam (adult trainees only)

4:30 pm - 5:30 pm Practice exam with worked examples for adult trainees

(material will be included on day 2 for paediatric trainees)

Sample Program: Day 2 Paediatric Only Program

Syndromes Part 1

8:30 am - 9:30 am Common and important syndromes in paediatrics

Syndromes Part 2

9:30 am - 10:30 am Syndromic causes of common findings

Sequences and associations

Dysmorphology

11:00 am - 12:00 pm An approach to the patient with dysmorphic features

What to look for, how to describe it

Paediatric Trainees Practice Exam (Part 1)

1:00 pm - 2:00 pm Practice exam with worked examples for paediatric trainees

Paediatric Trainees Practice Exam (Part 2)

2:00 pm - 3:00 pm Practice exam with worked examples for paediatric trainees
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