International award for Rett syndrome research

A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised with an international award.

The International Rett Syndrome Foundation (IRSF) named Dr Helen Leonard from the Telethon Institute for Child Health Research as the recipient of the 2008 “Circle of Angels Research Award” at their recent conference in Chicago, USA.

Dr Leonard heads the Australian Rett Syndrome Study which is based at the Institute and conducted in collaboration with Princess Margaret Hospital for Children, Perth and the Children’s Hospital at Westmead, Sydney.

The IRSF honoured Dr Leonard for what they described as “her substantial contributions which  have not only increased the understanding of Rett syndrome at basic levels but have helped define the Rett syndrome phenotype and clinical outcomes. Her collaborative involvement with the InterRett Database is a critical resource for researchers, clinicians and families.”  

Institute Director Professor Fiona Stanley said the award recognises Dr Leonard’s extraordinary passion for unravelling the mysteries of Rett syndrome while finding practical ways to help affected families.

“Helen has made an enormous contribution to this important area of research by collating an extremely valuable database that has revealed a great deal about this syndrome,” Professor Stanley said.

“She leads a fantastic team and is an inspiration, not only to those of us who work with her, but the many families who are desperate for answers as to how this syndrome will affect their daughters and the best ways to manage their care.”

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About Rett Syndrome
Rett syndrome is a relatively rare but serious neurological disorder that usually affects girls. The clinical diagnosis has often been uncertain in early childhood as the symptoms may be confused with those occurring in other disorders such as autism, cerebral palsy and developmental delay.
Rett syndrome affects around one in every 8,500 female births. Mutations in the MECP2 gene on the X chromosome have been identified as a cause of Rett syndrome. There is no known cure.

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