News

New study reveals genetic causes of rare syndrome that manifests as high blood pressure

To search for genes responsible for the disease, the German team focused for years on one extended Turkish family with the rare syndrome:... … more

Reinstate the Inborn Error of Metabolism (IEM) Food Grant

IEM food grant (a grant supporting individuals living with rare metabolic diseases) will finish in December 2015 and will no longer be... … more

Federal budget 2015: side-effect means sickest patients are to pay more for drugs

With Labor and the Greens opposed to the changes, the government will need to secure cross bench support to get them through the upper... … more

Genome project to find rare diseases in Victoria

RARE illnesses will be diagnosed earlier and treated faster under a $25 million genomic sequencing program across Victoria. … more

New study identifies gene that causes Adams-Oliver syndrome (AOS)

A leading team of medical and genetics experts from institutions across Europe independently identified a gene called NOTCH1. … more