There are over 6,000 genetic diseases and 1 in 20 children suffers from a birth defect or genetic disease. Many families affected by genetic diseases have no answers, because international resources are too scarce to research each disease individually.
Livia is one of those children living with an unknown genetic disease
Livia was diagnosed with global development delay (GDD), autism and scoliosis in her spine, all caused by an unknown mutation in one of her genes
The road to diagnosis has been a long one and has been very difficult for our family. We still don’t know what caused Livia’s condition. Visiting the CMRI labs and talking with the dedicated staff we feel blessed knowing that research is ongoing and hopeful for the future."
- Kirsti, Livia’s mum
With your support we plan to establish a new Centre for Applied and Translational Genomics
Through the new Centre for Applied and Translational Genomics (CATG) we will combine our expertise with that of clinicians in Sydney’s leading hospitals to methodically investigate rare genetic diseases and bring treatments to children sooner.
We are currently investigating the diseases where we can offer help to families. In many cases, we don't know the cause or the most effective treatment, so urgent funding is required to help give these families answers as soon as possible. CMRI and our partners will research different genetic diseases in a coordinated way, based on each of our areas of expertise.
We rely on generous supporters like you to help fund the new Centre and bring treatments to children sooner.