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        37-48 of 439 results for 'Rare disease'

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        Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials

        Existing clinical tools that measure non-seizure outcomes lack the range and granularity needed to capture skills in developmental and epileptic encephalopathy (DEE)-affected individuals who also fall in the severe to profound range of intellectual disability. This effectively excludes those with severe impairments from clinical trials, impeding the ability of sponsors to evaluate disease-modifying therapies. ...

        Research

        A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

        There is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care ...

        Research

        Prevalence of chronic wet cough, protracted bacterial bronchitis (PBB) and middle ear disease in the Kimberley

        André Schultz AS MBChB, PhD, FRACP Program Head, Respiratory Health RFA Program Head, Respiratory Health RFA Prof André Schultz is the Program Head of Respiratory Health and Head of the BREATH Team at Telethon Kids Institute. He is passionate ...

        Research

        A phenotype centric benchmark of variant prioritisation tools

        We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype. ...

        Research

        Surfactant protein disorders in childhood interstitial lung disease

        Surfactant, which was first identified in the 1920s, is pivotal to lower the surface tension in alveoli of the lungs and helps to lower the work of breathing and prevents atelectasis. Surfactant proteins, such as surfactant protein B and surfactant protein C, contribute to function and stability of surfactant film. ...

        Research

        Raine Eye Health Study: Ophthalmic Disease in a Birth-cohort Study of Young Adults

        The Raine Eye Health Study (REHS) was conceived to determine the prevalence of and risk factors for eye disease in young adults, and to characterize... ...

        Research

        Fissure adjacent partial lobe atelectasis in primary ciliary dyskinesia

        Establishing the underlying cause in a child with chronic suppurative lung disease (CSLD) allows for targeted treatment and screening for associated complications. One cause of CSLD is primary ciliary dyskinesia (PCD). Testing for PCD requires specialist expertise which is not widely available. ...

        Research

        A flexible computational pipeline for research analyses of unsolved clinical exome cases

        Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. ...

        Research

        Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia.

        We report two rare genetic aberrations in a schizophrenia patient that may act together to confer disease susceptibility. ...

        Research

        Improving the Diagnosis and Treatment of Paediatric Bronchiectasis Through Research and Translation

        Bronchiectasis, particularly in children, is an increasingly recognised yet neglected chronic lung disorder affecting individuals in both low-to-middle and high-income countries. It has a high disease burden and there is substantial inequity within and between settings. Furthermore, compared with other chronic lung diseases, considerably fewer resources are available for children with bronchiectasis.  ...

        Research

        Gastrointestinal dysmotility in rett syndrome

        Through evidence review and the consensus of an expert panel, we developed recommendations for the clinical management of gastroesophageal reflux disease,... ...

        Research

        Resourceful and creative methods are necessary to research rare disorders

        Our investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the... ...

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