Rare Disease 2015

With less than two weeks to go until Rare Disease Day 2015, here's how you can still participate! … more

Western Australian women asked to participate in research on pre-natal testing

Mothers of children with de novo genetic conditions (‘new’ conditions where neither parent is a carrier) living in Western Australia... … more

UniSA research investigating parental supportive care needs for rare diseases

Investigating the supportive care needs of parents with a child with a rare disease Australia. … more

Discovery of a gene responsible for familial scoliosis

The discovery of the first gene causing familial scoliosis was announced by an international France-Canada research team. … more

Genomic sequencing study boosts rare disease diagnosis

Recruitment of children with severe developmental disorders for which no underlying cause has been identified, the project began in 2011. … more