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        1-12 of 439 results for 'Rare disease'

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        Personalised analytics for rare disease diagnostics

        Here we focus on the problem of prioritising variants with respect to the observed disease phenotype ...

        Research

        Rare disease education in Europe and beyond: time to act

        People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient. ...

        Research

        Ethics and equity in rare disease research and healthcare

        Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing. ...

        Research

        RD-RAP: Beyond rare disease patient registries, devising a comprehensive data and analytic framework

        We introduce and describe the concept of a Rare Disease Registry and Analytics Platform ...

        Research

        3D Face Reconstruction with Mobile Phone Cameras for Rare Disease Diagnosis

        Computer vision technology is advancing rare disease diagnosis to address unmet needs of the more than 300 million individuals affected globally; one in three rare diseases have a known facial phenotype. 3D face model reconstruction is a key driver of these advances. ...

        Research

        The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

        The Human Phenotype Ontology (HPO) is widely used in the rare disease community for differential diagnostics, phenotype-driven analysis... ...

        Research

        Parents' experiences of children with a rare disease attending a mainstream school: Australia

        To explore the perceptions of parents who had a child or adolescent (6-18 years) diagnosed with a rare disease who attended a mainstream school in Western Australia. Design and methods: A cross-sectional online survey was conducted with 41 parents of children with a rare disease. ...

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        CRISPR gene editing and stem cell disease modelling: a new path to genetic and rare disease patient diagnosis

        Vanessa Timo Fear Lassmann VF T BSc (Hons), PhD BSc (Hons) MSc PhD Head, Translational Genetics Team Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology 08 6319 1022 vanessa.fear@telethonkids.org.au timo.lassmann@ ...

        Research

        Surfacing undiagnosed disease: consideration, counting and coding

        The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey. ...

        Research

        Addison Disease – diagnosis and initial management

        Adrenal insufficiency is a rare disease caused by either primary adrenal failure (Addison disease) or by impairment of the hypothalamic-pituitary-adrenal axis ...

        Research

        Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations

        Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with Indigenous populations frequently experiencing diagnostic and therapeutic inequities. The International Rare Disease Research Consortium (IRDiRC) multi-stakeholder partnership has been advancing toward the vision of all people living with a rare disease receiving an accurate diagnosis, care, and available therapy within 1 year of coming to medical attention. In order to further progress toward this vision, IRDiRC has created a taskforce to explore the access barriers to diagnosis of rare genetic diseases faced by Indigenous peoples, with a view of developing recommendations to overcome them. ...

        Research

        Impact of biobanks on research outcomes in rare diseases: a systematic review

        This review made the important observation that registries with biobanks had the function of both stand-alone registries and stand-alone rare disease biobanks ...

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