Fabry Australia has the following aims:

• To improve contacts, information and support among people affected by Fabry disease, and their families, within Australia.
• To bring about more public awareness of Fabry Disease.
• To improve the medical services to Fabry patients in Australia.
• To promote and support research into Fabry Disease.
• To share information on Fabry Disease and available treatment, to Fabry patients, their carers and the Australian Community.
• To build links with overseas families, clinicians, researchers and support groups, to support local knowledge about Fabry disease.
• To work co-operatively with other groups and individuals interested in rare diseases to promote common interests.
• To raise money to achieve these aims.

Raising Money

As for any Charitable organisation, there is the task of raising money to contribute to specific research initiatives, build local support networks and international contacts, improve information flows, and produce newsletters.

See Donations or Contact us if you wish to know more, to be on our mailing list, or to contribute money or effort.

All contributions over $2 are tax deductible in Australia.

Research

Individuals with Fabry disease have disease management and treatment options today because of a relatively few researchers, physicians, patients, corporate sponsors and others who were courageous enough to engage in rare disease research and clinical trials. We are forever grateful for their many years of dedicated service and sacrifices.

With kidney dialysis and transplants, enzyme replacement therapy, and other disease management options many individuals with Fabry disease can live healthier and longer lives. But significant challenges remain to increase understanding of Fabry disease and its effects, and to improve treatment and management options beyond today's successes.

There are primarily four areas of research for Fabry disease.

Enzyme Replacement Therapy - Replacement of the missing enzyme to clear the lipids (GL-3) from the cells.

Substrate Synthesis Inhibition - Inhibits the production of the lipid (GL-3) that accumulates in the cells

Chaperone Therapy - Uses small molecule drugs that bind to the defective enzyme and stabilize it to increase enzyme activity and increase cellular function.

Gene Therapy - Genetically modifies the affected cells to produce the missing enzyme.

Lysosomal Diseases Research Unit

The Lysosomal Diseases Research Unit (LDRU) is an acknowledged world leader in research into lysosomal storage disorders. The Unit supports a multidisciplinary team of about 40 scientists, technicians and students working towards the goal of EARLY DIAGNOSIS AND EFFECTIVE THERAPY for these disorders. It maintains an annual competitively-won research budget of approximately $1.5 million.

Lysosomal storage disorders are inherited and result in severe clinical symptoms that worsen with age. Lysosomal storage disorders result from a deficiency or absence in the functional activity of a specific enzyme (protein) in each of the body's billions of cells. These enzymes are important in the removal of waste from each cell. Where the function of these enzymes is impaired, the waste cannot be removed effectively and begins to store within the cell. As more waste stores, it begins to interfere with the cell's ability to carry out its normal functions. Symptoms include bone deformities and very short stature, heart and respiratory difficulties, coarse facial features, an enlarged head, tongue, liver and spleen, and, in two-thirds of patients, brain degeneration. Very severely affected patients die within the first five or 10-years of life. In Australia the estimated incidence of lysosomal storage disorders is about 1 in 5,000 births (compared with disorders such as cystic fibrosis, incidence 1 in 2,500 births), making them a considerable health burden.