Isabelle is 12 months old, but she looks pretty small for her age. In fact, she still fits into clothes made for infants eight months younger.
Isabelle is believed to have Bloom’s Syndrome, a rare autosomal recessive disorder. This causes individuals to be proportionally small and have increased sensitivity to sunlight, which can result in blisters or redness of the skin. She might be tiny, but the pocket-rocket is certainly not lacking in energy, exuberance and curiosity about the world.
Yesterday, the Victorian Government announced $25 million funding for the Melbourne Genomics Health Alliance. This will see up to 2,500 adults and children with rare conditions and inherited diseases, like Isabelle, receive early diagnoses of their conditions, enabling them to receive treatment earlier and improve their health outcomes.
It will also mean Victorians with hereditary diseases will have greater understanding about how their genetic condition might impact them and their families in the future.
The Melbourne Genomics Health Alliance – founded by The Royal Children’s Hospital, Murdoch Childrens Research Institute, University Of Melbourne, Walter and Eliza Hall Institute, Royal Melbourne Hospital, CSIRO and Australian Genome Research Facility – will see world-class medical research institutes, teaching hospitals and universities work together to develop this new gene sequencing capability.