ILOs

• Know about the clinical aspects and molecular genetic basis of the conditions mentioned in the lectures e.g…
  • Huntington disease, including genetic anticipation
  • myotonic dystrophy (including non-coding trinucleotide repeats)
  • cystic fibrosis and cascade screening
  • neurofibromatosis type 1
• Know how to obtain relevant information including leaflets for patients, e.g.
  • Which international databases to use for clinical information
• Know about the clinical aspects and molecular genetic basis of Duchenne muscular dystrophy
• Know about the more important chromosomal abnormalities, including autosomal trisomies

• How many copies of the mitochondrial chromosome are there within a mitochondria?

Huntington Disease

• When does it typically onset?
• What are the symptoms on presentation?
• What is the inheritance pattern?
• What are the consequences of CAG repeat unit expansion?
• How do we test for it, and is there a cure?

Myotonic Dystrophy

• What is the inheritance pattern?
• What are the symptoms?
• Explain the genetic basis for it
• Outline the pathogenic mechanism for it

Cystic Fibrosis

• What is the inheritance pattern, carrier frequency, how many people are affected in the UK and what are the symptoms?