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        Research

        Propulsion strategy in the gait of primary school children; the effect of age and speed

        Ankle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children ...

        Research

        Quality of Life and Psychosocial Well-Being in Youth With Neuromuscular Disorders Who Are Wheelchair Users: A Systematic Review

        To investigate quality of life (QOL) and psychosocial well-being in youth with neuromuscular disorders (NMDs) who are wheelchair users. ...

        Research

        Which reference equation should we use for interpreting spirometry values for First Nations Australians? A cross-sectional study

        To evaluate the suitability of the Global Lung Function Initiative (GLI)-2012 other/mixed and GLI-2022 global reference equations for evaluating the respiratory capacity of First Nations Australians.  ...

        Research

        The landscape of genomic structural variation in Indigenous Australians

        Indigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine. ...

        Research

        Can telehealth increase physical activity in individuals with Rett syndrome? A multicentre randomized controlled trial

        To evaluate the effects of a physical activity programme on sedentary behaviour and physical activity in ambulant individuals with Rett syndrome. ...

        Research

        SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare Diseases

        Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci ...

        Our stories of support

        To immunity and beyond Custom medicine for kids Inspiring young researchers Onwards and upwards Loss and resilience Friends of the Institute Sharing ...

        Research

        A brief history of MECP2 duplication syndrome: 20-years of clinical understanding

        MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000. ...

        Research

        Change in Gross Motor Abilities of Girls and Women With Rett Syndrome Over a 3- to 4-Year Period

        We describe change in gross motor function over 3 to 4 years for 70 subjects participating in the Australian Rett Syndrome Database ...

        Research

        Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome

        The U-PART intervention was found to be feasible and effective in the short term in girls and women with Rett Syndrome ...

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