Sara was born on a rainy Sunday, the first child to her adoring and overwhelmed parents. Her mother’s pregnancy had been uneventful, and all their antenatal tests normal. Then someone examined her and ordered X-rays. Next, her unbelieving parents were being told that their gorgeous baby had a genetic bone growth disorder, a form of dwarfism.
You are here
The Murdoch Children's Research Institute blog Featuring stories, opinons and news from our research team, patients and staff.
Today, more than ever before, a staggering array of new diagnostic options exist to enable accurate genetic diagnosis of genetic conditions. This has been made possible by quantum leaps in computing, which have allowed rapid, interpretable screening of our entire coding DNA sequences and our full genomes at exponentially-affordable prices.