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Research
International CDKL5 Disorder DatabaseHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
Research
Interventions to eliminate rheumatic heart diseaseFunded by a 5-year NHMRC Investigator grant to implement a strategy to eliminate rheumatic heart disease (RHD) as a public health problem in Australia.
Research
Koolungar (Children) Moorditj (Strong) Healthy SkinThe Koolungar (children) Moorditj (strong) Healthy Skin project is the first ever co-designed research-service Australian study to describe skin health in urban-living Aboriginal koolungar.
Research
LGBTQIA+ Inclusive Practice Training for Medical and Psychology StudentsThis research aims to improve the mental health of LGBTQIA+ individuals through enhanced inclusive practice training for trainee health professionals.
Research
LIFECYCLE - Early Life Stressors and LifeCycle HealthLIFECYCLE is a significant and visionary project to establish an integrated set of long-term world-wide cohorts and clinical trials, which can be investigated and compared across the full life of cohort participants.
We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.
We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.
Novel findings in relation to genotype
Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.
We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.