Concurrent Session 3: ASIEM
Tracks
Track 3
| Sunday, August 4, 2019 |
| 1:15 PM - 2:45 PM |
| Lion Harbour View 1 (L2) |
Details
Chairs: A/Prof Carolyn Ellaway & A/Prof Ronda Greaves
Speaker
Prof Peter Clayton
Professor of Paediatric Metabolic Disease and Hepatology
Institute of Child Health UCL
BILE ACID DISORDERS
1:15 PM - 1:45 PM
Dr Andrew Munkacsi
Senior Lecturer
Victoria University of Wellington
EXTREME PHENOTYPE SAMPLING AND WHOLE GENOME SEQUENCING OF NIEMANN-PICK TYPE C DISEASE IN AUSTRALASIA
1:45 PM - 2:15 PM
Dr Alison Compton
Team Leader
Murdoch Children's Research Institute
Outside The Exome: the role of CNVs, SVs, deep-intronic and ‘silent’ mutations in Mitochondrial disease
2:15 PM - 2:30 PM
Dr Sarah Missen
Paediatric Registrar
Canterbury DHB
Mitochondrial Disease in New Zealand: A nationwide prevalence study.
2:30 PM - 2:45 PM
