Genetics (inherited heart conditions)
This page is a research page. For information on specimen collection, please view our Kids Heart BioBank clinical hub page on the Sydney Children's Hospitals Network website.
Kids Heart BioBank page
The primary aim of our Genetics research program is to answer the questions surrounding inherited heart conditions by investigating its genetic causes. These conditions are those which pass down through generations. They are not structural in nature, like the Congenital Heart Diseases (CHD), and can present at all stages of life. The most feared presentation is that of sudden cardiac death. Pre-symptomatic detection is therefore critical, since death can be prevented.
The team, under the direction of Prof Jonathan Skinner, are working to develop a NSW clinical service and registry for children with inherited heart conditions who are at risk of sudden death. The aim is to link the multiple high-profile NSW cardiac genetics research programs and clinical services and help translate this work into benefit for children and their families across the state.
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Prof Jonathan Skinner
More team members
- Karen Robinson - Project and Research Coordinator, Cardiac Genetics Coordinator
- Gabrielle Scarfe - Project and Research Coordinator, Cardiac Genetics Coordinator
- Dr Janine Smith - Clinical Geneticist
- Dr Christian Turner - Paediatric Cardiologist and Electrophysiologist
- Dr Hiroko Asakai - Paediatric Cardiologist and Electrophysiologist
- Dr Claire Lawley - Paediatric Cardiologist and Electrophysiologist
- Janette Hayward – Associate Genetic Counsellor
- Lexi Dengler – Clinical Nurse Consultant