Gene researcher wins award

Karen Lower has won Adelaide's Women's and Children's Hospital's annual Young Investigator of the Year Award for her work identifying the genetic cause of Borjeson-Forssman-Lehmann Syndrome (BFLS), a severe form of intellectual disability.

Lower, a PhD student working with Dr Jozef Gecz, was one of three finalists chosen to present their work to a panel of judges representing the Australian media. The finalists were asked to present their work in a way that was readily understandable to the general public.

"It's a wonderful idea," said Lower. "It's the only opportunity to present this work to a lay audience."

Lower has identified the gene and mutations responsible for BFLS, which is an X-linked form of retardation characterised by moderate to severe intellectual disability, short stature, obesity and distinctive cranio-facial abnormalities. Although the general location of the gene had been identified by linkage studies, Lower examined 18 candidate genes before finding the one associated with BFLS. Nine affected families with 25 intellectually disabled males were studied.

"A lot of women in these families have opted not to have children," Lower said, explaining that the discovery will be able to be used as a diagnostic test to see whether women in affected families carry the mutated form of the gene.

She is continuing to examine the relationship between various mutations in the gene and the severity of the syndrome as well as the function of the gene product. Preliminary results suggest that the BFLS gene may be involved in regulation of other genes.

"We hope that she'll get a high profile publication out of it," said Gecz.