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Research

International CDKL5 Disorder Database

Helen 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 disease

Funded 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 Skin

The 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 Students

This 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 Health

LIFECYCLE 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.

Atypical Presentations

We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.

Large deletions of the MECP2 gene

We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.

Sleep problems in Rett syndrome

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.

Bone mineral content and density in Rett syndrome

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.