Web based database aids Rett syndrome research

Rett syndrome is a complex neurological disorder that is found almost exclusively in females and occurs roughly within one in every 10,000 girls born worldwide. Whilst the disorder is genetic and therefore present at birth, it usually doesn't become evident until after six months of age. Girls with Rett syndrome usually have severe intellectual disability, communication difficulties, inability to use their hands in a purposeful manner, and often experience breathing irregularities, epileptic fits, reduced mobility, scoliosis and growth retardation.

In 1999 researchers in the US discovered the gene responsible for Rett syndrome, called MECP2. Since that time many researchers, including genetic researchers at The Children's Hospital at Westmead have been working to understand why abnormalities in the MECP2 gene cause the disorder, in the hope that it will ultimately lead to a cure. In July 2001, the Hospital launched a web-based database which catalogues alterations (mutations) in the gene responsible for Rett syndrome. The database is the most comprehensive in the world, accessed by both researchers and the general public.

There have been over 30,000 hits on the site (about 50 hits per day) since its launch, indicating how useful the site is for researchers. By gathering the data researchers are able to start understanding the consequences of individual mutations. In addition, researchers can look at new mutations and start to assess if they are disease causing or benign.

In the long term, researchers hope they will be able to identify the best treatment for each affected individual. It is only by understanding the mutations and the disease we are able to develop treatments and ultimately a cure. With over 250 females in Australia living with the disease and many more thousands around the world, the database and resulting research is vital.

The researchers at The Children's Hospital at Westmead are keen to log all patients with all mutations, not just new mutations. In addition, they are keen to hear about polymorphisms, previously reported or new.

For further information, please contact:

Gilly Paxton
Manager
Public Relations
The Children's Hospital at Westmead
(02) 9845 3568