UDP - Victoria

Project Details

This main aim of this research study is to closely look at the genes in a family to see what is different and whether this difference is the cause of the health problem. Genes are the instructions inside that tell your body what to look like and how to work. Genes get passed down in families from parents to children. Scientists know that genetic conditions and illnesses occur when genes do not work as they normally should. Sometimes a ‘spelling mistake’ in one or more genes can cause rare genetic conditions, and these can run in families.

In this study we will compare the genes in both the affected individual and their family members in order to identify the mistake in the gene/s of families where one or more family members has a rare health problem or condition, to see if we can find a genetic cause. Family members can include parents, children, grandchildren, brothers and sisters. Some family members will have a rare genetic condition (called the affected person) and some will not (called the unaffected person).

For some rare genetic conditions we already know the gene mistake that causes the condition. For other rare genetic conditions, the exact mistake that causes the condition is not known. Our study is important because if we can find the exact cause of rare genetic conditions, we hope to be able to improve the welfare of patients and families affected by these types of conditions. We cannot guarantee that we will find the exact genetic cause, but by undertaking this research we will be able to further our understanding of this condition. This research can take a long time to complete, but our long-term goal is to improve the wellbeing of families affected by rare genetic conditions.


  • Dr Ken Pang, Consultant Paediatrician
  • Dr Nicole van Bergen, Research Officer
  • Dr Rocio Ruis, PhD Candidate
  • Ms Simran Kaur, PhD Candidate
  • Ms Marilou Barrios, PhD Candidate
  • Mr Blake Smith, PhD Candidate
  • Ms Lucy Liu, MA Candidate


  • Metabolic Research Group – Kids Research Institute, Sydney Children’s Hospitals Network
  • Professor Carolyn Sue – Kolling Research Institute, Sydney
  • Professor David Ravine – School of Pathology and Laboratory Medicine, University of Perth
  • Professor Helen Leonard – Telethon Kids Institute, Perth
  • Dr Yiran Guo and Dr Brendan Keating – Center for Advanced Genomics, Children’s Hospital of Philadelphia
  • Dr Carole Lister, Luxembourg Centre for Systems Biomedicine, Universite du Luxembourg

Research Group

Neurodevelopmental Genomics Research

Faculty Research Themes

Child Health

School Research Themes

Child Health in Medicine, Neuroscience & Psychiatry

Key Contact

For further information about this research, please contact the research group leader.

Department / Centre


MDHS Research library
Explore by researcher, school, project or topic.