A boost for Rett syndrome research

06 February 2018

Dr Wendy Gold, Kids Research, has received a generous donation of $10,000 from the Rett Syndrome Association of Australia (RSAA), to further her group’s work on the genetic disease. Wendy's primary research goal is to better understand the molecular genetics of Rett syndrome, which is seen almost always in girls.  She hopes to find a way to halt the onset of this disease.

Rett syndrome is mostly caused by a mutation in the “MECP2” gene, which is responsible for allowing other genes to switch on or off.  When mutated, it cannot perform this function, and development of the central nervous system is impaired.

Wendy’s group is currently exploring the potential of using gene editing to correct mutated copies of MECP2 genes in neuronal cells and permanently restore them back to the normal copy. The research is being performed in collaboration with the Gene Therapy Research Unit, another team at Kids Research, and the Translational Vectorology Group at the Children’s Medical Research Institute.

“Gene editing holds great promise for patients with genetic disorders such as Rett syndrome, and we are living in exciting times where this technology is rapidly transforming from the research bench into clinical applications”, Dr Gold said.

The donation, presented today by Mr Claude Buda, Vice President of the Rett Syndrome Association of Australia, will go towards funding lab resources for this work.  Mr Buda was joined by members of his family and the Brown family, both of whom have daughters suffering from Rett syndrome.

Pictured above (L to R): Lang Brown, Kenzie Brown (6), Alexandra Boyling (Honours Student), Dr Wendy Gold, Claude Buda, Donna Buda and Annelise Buda (7) 

  • Share Story: