Helen Leonard - Disability researcher

 

Dr Helen Leonard’s interest in disability research was sparked during her work as a clinician in the WA Disability Services Commission during the 1980’s and 1990’s.  Despite the important work that she performed in the clinical care of children with a disability, the experience also left Helen feeling frustrated that there was little emphasis on looking at the causes of these conditions.
“The clinical work brought up so many questions in relation to the causes of intellectual disability and rare syndromes that were not being answered in the literature and yet that I could see we had the potential to answer both through population-based research and the development of important registers,” explains Helen.
Helen’s desire to identify the reasons behind why some children are affected by disability led her to enroll in a Masters of Public Health degree in 1993.  
Based at the Institute under the supervision of Professor Carol Bower, Helen chose to focus on a rare and complex disorder known as Rett syndrome, which affects one in 8,500 girls.
“At the time this was a mystery disorder which struck down little girls who, to all intents and purposes, were developing normally and would suddenly start to regress and yet no-one knew the cause,” says Helen.
“Because there were only a handful of girls diagnosed in Western Australia with Rett syndrome, I knew that to be meaningful this had to be a national study to get a comprehensive picture of what the causes of this devastating disease were.”
As part of her Masters degree, Helen established the Australian Rett Syndrome Database that has become a vital resource in the research of this rare disorder and has led to important support networks being developed for the families of these children.  Helen was also instrumental in the formation of the International Rett Syndrome Phenotype Database which contains data from children all over the globe and which has facilitated the discovery of various genetic abnormalities associated with the disorder.
“The MECP2 gene was originally identified as a gene that was abnormal in children affected by Rett syndrome,” explains Helen.
“More recently, we published a paper showing that certain alterations in a second gene called BDNF could predict the disease progression of Rett syndrome - this in turn might be useful in deciding which treatment is optimal for the children displaying this version of the gene.”
Helen’s vision and commitment to Rett syndrome research was recently recognised with her being awarded the 2008 ‘Circle of Angels Research Award’ by the International Rett Syndrome Foundation.
“I feel that this award and my recent achievement of an NHMRC Senior Research Fellowship really validates the importance of my research, whilst at the same time I feel totally privileged to be able to work with these families and be able to contribute to the global research effort for this disease,” says Helen.
Along with Rett syndrome, Helen is also involved in studies looking at other childhood disabilities including intellectual disability and autism.  Her studies have explored factors outside genetics that may increase the risk of children becoming affected by disability, including social and demographic elements.
“In relation to intellectual disability, Aboriginal mothers, teenagers, single and socio-economically disadvantaged mothers were all at increased risk of having a child with mild or moderate intellectual disability,” explains Helen.
“These results show the need for further investigation into the causes as well as service provision for children with intellectual disability, as I believe all children in WA should have equal access to the best possible care available.”
Helen says that one of the most difficult things about her area of research is securing funding, particularly as some of the disorders including Rett syndrome are rare.  However, her passion for making a difference in the lives of the patients and their families helps her to maintain her focus.
“Basically, what drives me in my work is the question of how we can make life better for those affected and their families and even better, how we can prevent childhood disability in the first instance.”
Despite her extremely busy schedule, Helen supervises a large number of students from Honours to PhD.  She also makes a point of actively participating in all stages of the ‘project cycle’, from the family contact to family follow-up data collection, data management, data analysis and production of publications.
“I think it is extremely important to keep in touch at the grass roots level, to keep oneself grounded and to not forget the reasons why you’re doing what you’re doing,” says Helen.
In maintaining a good work-life balance, Helen enjoys spending time with her beautiful grand-daughter, bushwalking with her dog and tending to her native Australian garden.