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        191-200 of 562 results for 'Rare disease'

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        News & Events

        WA Child Research Fund grants boost research for premmies, kids with cancer and rare diseases

        Telethon Kids Institute researchers have been awarded 12 of 16 grants under the latest round of funding from the WA Child Research Fund ...

        Research

        Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposures

        The polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology. ...

        News & Events

        Researchers find new way to deliver ‘smart drugs’ for hard-to-treat diseases

        Researchers from Perth’s Telethon Kids Institute have developed a world-first screening tool that helps deliver smart drugs into cells to battle hard-to-treat diseases like cancer and Duchenne Muscular Dystrophy. ...

        News & Events

        New clinical trial to improve outcomes for babies with leukaemia

        The Australian arm of an international clinical trial looking at improved treatments for young babies with leukaemia has been awarded funding from the MRFF. ...

        Research

        A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative Disease

        We have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication ...

        Research

        Does machine learning have a role in the prediction of asthma in children?

        Asthma is the most common chronic lung disease in childhood. There has been a significant worldwide effort to develop tools/methods to identify children's risk for asthma as early as possible for preventative and early management strategies. Unfortunately, most childhood asthma prediction tools using conventional statistical models have modest accuracy, sensitivity, and positive predictive value. ...

        Research

        Centre for Advanced Cancer Genomics (CACG)

        Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@ ...

        Research

        Reference exome data for Australian Aboriginal populations to support health-based research

        Our data set provides a useful reference point for genomic studies on Aboriginal Australians ...

        Research

        BEAT-CF: Bayesian Evidence-Adaptive Tool to optimise management of Cystic Fibrosis

        Stephen André Stick Schultz SM AS MB BChir PhD MRCP FRACP MBChB, PhD, FRACP Head, P4 Respiratory Health for Kids Program Head, Respiratory Health RFA ...

        Research

        Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

        The purpose of this study was therefore to comprehensively examine the genetic architecture of Adams-Oliver syndrome in an extensive cohort ...

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