Rare Diseases Day

29 Feb 2016

UQ Researchers are working to find causes and treatments for some of the world’s rarest diseases.

Approximately 8000 known rare diseases affect more than 1.2 million Australians, and roughly one-third of children with rare diseases don’t live beyond the age of five.

Most rare diseases are inherited. Many affect children, but a number appear in adulthood.

UQ Centre for Clinical Research’s (UQCCR) Professor Martin Lavin said although these diseases were individually rare, collectively they were common, with roughly one in 12 Australians living with a rare disease. Professor Lavin’s group of researchers studies Ataxia-Telangiectasia (A-T), a rare disease that causes a loss of physical condition and co-ordination due to underlying damage to the nervous system and brain. The symptoms  include difficultly walking, speaking, eating and writing.

At UQCCR, Professor Lavin, who is an international leader in research on this syndrome, is part of a multidisciplinary Ataxia Clinic with Dr Kate Sinclair, Professor Claire Wainwright and Professor Peter Sly, located at the  Lady Cilento Children’s Hospital, with sister-clinics  the United States, the United Kingdom and Europe. These clinics bring together the combined expertise of many specialists to deliver diagnosis, surveillance and patient management. They are also closely linked to  research activity designed to improve treatment for this disorder. In Australia this research  is supported by BrAshA-T,a foundation set up by parent groups to  improve the health of children with A-T.

“We need to overcome the perception that rare diseases don’t warrant the investment that more common diseases like cancer, diabetes and heart disease attract,” 

“Families with rare diseases can feel forgotten as they try to access life-saving drugs, diagnoses and treatment. “Not only do these families deserve the same support as everyone else, findings from studying rare diseases can also greatly impact our understanding and treatment of more common diseases.” he said.

Rare Diseases Day 2016 from The University of Queensland on Vimeo.

Media: Professor Martin Lavin (m.lavin@uq.edu.au) or Jenny Johnston (j.johnston2@uq.edu.au) Marketing & Communications Officer UQCCR