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Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...
News & Events
Global research for rare disorderThe Kids Research Institute Australia researchers set out on a worldwide search to find out all they could about Rett syndrome, establishing databases and creating awareness.
News & Events
Critical mass in rare diseases - an innovative internet approachThe internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
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Intellectual DisabilityAbout 2 per cent of children are estimated to have an intellectual disability. The cause of the condition is unknown in at least 50 per cent of cases.
Research
"What about us?"- the drawbacks of current bruxism assessment criteria in evaluating vulnerable groupsJenny Helen Kingsley Downs Leonard Wong BApplSci (physio) MSc PhD MBChB MPH MBBS, MPH, MMedStat Program Head, Development and Disability Principal
Research
Resourceful and creative methods are necessary to research rare disordersOur investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
Research
Assessment and management of nutrition and growth in rett syndromeWe developed recommendations for the clinical management of poor growth and weight gain in Rett syndrome through evidence review and the consensus of an...