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.
Diagnostic developments in the LDRU are applied to improved services through the National Referral Laboratory for Lysosomal, Peroxisomal and Related Genetic Disorders in the Department of Genetic Medicine.
Lysosomal Diseases Australia (LDA) is a national umbrella organisation formed to promote community understanding and education of lysosomal storage disorders and their effects. Copies of LDA newsletters and further information can be obtained from:
Public Officer phone (08) 8161 7393 or fax (08) 81617100
Specific family support groups operate within Australia for individual lysosomal storage disorders. Contact details can be obtained from:
Dr Michael Fietz, Head, National Referral Laboratory for Lysosomal, Peroxisomal & Related Genetic Disorders phone (08) 8161 8062
Public Officer, Lysosomal Diseases Australia phone (08) 8161 7393
Current research within the Unit builds on more than 25 years of experience and knowledge. The Unit was the first to discover the genes involved in a number of lysosomal storage disorders. These discoveries led to the ability to conceive and develop treatments, some of which are now in human clinical trial. Enzyme replacement therapy, in which the patient's missing enzyme is replaced by laboratory-made enzyme, has proven to be effective in treating most of the somatic symptoms associated with lysosomal storage disorders, but it is not able to cross the membrane (known as the ‘blood-brain barrier') that surrounds and protects the brain. Intensive work in the Unit, and elsewhere, is dedicated to investigating methods to enable enzyme to enter and treat the devastating effects of lysosomal storage in the brain. The Unit is also well advanced in the development of a novel method by which to detect babies with lysosomal storage disorders at birth. This will enable early treatment and alleviate the development of symptoms. The method has been developed to utilise the standard Guthrie blood spot, which is in routine clinical use world-wide to screen newborns for a variety of disorders.
General Business 9am - 5pm weekdays
Head, Lysosomal Diseases Research Unit
4th Floor, Rogerson Building
Lysosomal Diseases Research Unit
Ph (08) 8161 7393
Fax (08) 8161 7100