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        1-10 of 562 results for 'Rare disease'

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        News & Events

        Computational research helps boost rare disease diagnosis

        Researchers at Telethon Kids Institute working to provide confident diagnoses for children suffering from rare diseases have created a new computer algorithm to help pinpoint the mutations responsible for the conditions. ...

        News & Events

        Personalised analytics propel rare disease diagnoses

        Telethon Kids Institute researchers are at the forefront of rapid improvements in the diagnosis of rare diseases. ...

        Postdoc in Genetic and Rare Disease Computational Biology

        We are looking for an experienced computational postdoc to join the Genetics and Rare Disease Program lead by Timo Lassmann. The major focus of this ...

        Research

        Personalised analytics for rare disease diagnostics

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

        Join the Rare Disease Research Advisory group

        What are we recruiting for? Telethon Kids Institute and Rare Voices Australia (RVA), the national peak body for Australians living with a rare ...

        News & Events

        Perth researchers unlocking mystery of rare seizure disease

        Researchers at the Telethon Kids Institute are one step closer to finding better treatments for a rare disease causing children to have multiple seizures a day. ...

        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

        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

        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. ...

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