Whole-genome sequencing studies in CHD
We are currently collaborating with Prof Sally Dunwoodie from the Victor Chang Cardiac Research Institute on a study in which we are performing whole-genome sequencing (WGS) on children with CHD. WGS allows us to analyse an individual's entire genetic makeup which means we are able to discover new genes that could cause CHD. Additional consent needs to be obtained from participants in order for them to be included in this study.
Exome sequencing for novel gene discovery in CHD
As part of her PhD, Dr Gillian Blue applied exome sequencing on select families from the DNA Bank with strong histories of CHD in an attempt to identify novel causal genes. Exome sequencing rapidly analyses the entire coding sequence of an individuals' genome thereby accelerating gene discovery. The study has yielded some interesting findings which are currently being prepared for publication.
Exome sequencing in patients with congenitally corrected TGA and HLH
In this study, we are collaborating with A/Prof Paul Grossfeld a Paediatric Cardiologist and Associate Professor at the University of California, San Diego (UCSD). He is using exome sequencing to screen individuals affected by congenitally corrected TGA (ccTGA) and hypoplastic left heart (HLH) to identify new variants and genes that could be causing these heart conditions. As with the other genome/exome sequencing studies, additional consent was obtained in order for these participants to be included.
iPS cells to probe the molecular basis of congenital heart disease
We are collaborating with Prof Richard Harvey from the Victor Chang Cardiac Research Institute to investigate congenital heart disease at the molecular and cellular level using induced pluripotent stem (iPS) cell technology. The study focuses on patients with hypoplastic left heart syndrome and their families and potential participants in this study are re-consented prior to inclusion.