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        Research

        The role of exome sequencing in childhood interstitial or diffuse lung disease

        Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality. ...

        News & Events

        McCusker Charitable Foundation grant in support of the Undiagnosed Diseases Program

        Telethon Kids Institute congratulates Prof Gareth Baynam and Dr Timo Lassmann on their grant over three years from the McCusker Charitable Foundation. ...

        Research

        Genomic testing for children with interstitial and diffuse lung disease (chILD): parent satisfaction, understanding and health-related quality of life

        Research is needed to determine best practice for genomic testing in the context of child interstitial or diffuse lung disease. We explored parent's and child's health-related quality of life, parents' perceived understanding of a genomic testing study, satisfaction with information and the study and decisional regret to undertake genomic testing. ...

        Research

        Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

        Parents of children living with rare chronic and complex diseases have called for better education and resourcing of health professionals ...

        Research

        Lung abscess: 14 years of experience in a tertiary paediatric hospital

        Lung abscess is a rare condition in paediatrics with a paucity of literature. Intravenous antibiotics is the main therapy; however interventional radiological approaches have led to the use of percutaneous drainage. Surgery is reserved for the management of complications. ...

        News & Events

        IASSIDD 15th World Congress

        Our AussieRett team recently visited Melbourne, Australia for the IASSIDD 15th World Congress. ...

        Research

        The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort

        This cohort study provides new evidence of a disparity between the proportion of the population with rare diseases and their combined health-system costs ...

        Research

        Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-blind, double-dummy, 2×2 partial factorial, randomised controlled trial

        Primary ciliary dyskinesia (PCD) is a rare, progressive, inherited ciliopathic disorder, which is incurable and frequently complicated by the development of bronchiectasis. There are few randomised controlled trials (RCTs) involving children and adults with PCD and thus evidence of efficacy for interventions are usually extrapolated from people with cystic fibrosis. ...

        Senior Research Officer Child Disability Rare Diseases Program

        The Opportunity An opportunity to become a valued menber of the Child Disability team which is led by Associate Professor Helen Leonard and Dr Jenny ...

        Research

        Improving screening in a paediatric cohort for cystic fibrosis-related diabetes: A quality improvement project

        André Schultz AS MBChB, PhD, FRACP Program Head, Respiratory Health RFA Program Head, Respiratory Health RFA Prof André Schultz is the Program Head ...

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