Orals - Session 2:
Tracks
Track 2
| Monday, August 5, 2019 |
| 4:30 PM - 5:45 PM |
| Frank Taplin Room (L1) |
Details
Chairs: Ms Kimberley Gamet & Dr Sarah Heron
Speaker
Dr Haloom Rafehi
The Walter and Eliza Hall Institute for Medical Research
Homozygous inheritance of AAGGG RE in RFC1 causes CANVAS
4:30 PM - 4:45 PM
Dr Paul Lockhart
Group Leader
Murdoch Childrens Research Institute
Genetic and cellular characterisation of cortical dysplasia using patient-derived brain tissue
4:45 PM - 5:00 PM
Dr David Amor
Galli Chair, University of Melbourne
Murdoch Children's Research Institute
Pathogenic variants in GPC4 cause Keipert syndrome
5:00 PM - 5:15 PM
Professor Andrew Sinclair
Deputy Director
Murdoch Children's Research Institute
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
5:15 PM - 5:30 PM
Dr Swaroop Aradhya
Head, Global Medical Affairs
Invitae
Multi-gene analysis effectively provides a high diagnostic yield and resolves differential diagnoses in neuromuscular disorders
5:30 PM - 5:45 PM
