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        101-108 of 108 results for 'Jenefer Blackwell'

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        Research

        Ear Infections

        Middle ear infections are one of the main reasons that children visit a GP, are prescribed antibiotics and need surgery. Aboriginal children are particularly susceptible and commonly suffer from hearing loss which can affect speech and learning. ...

        Research

        SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare Diseases

        Jenefer Timo Carol Sarra Helen Vanessa Blackwell Lassmann Bower Jamieson Leonard Fear JM T C SE HM VF BSc with First Class Honours, PhD, DSc, FMedSci ...

        A life of caring and a passion to give - local legend Harvey Coates

        The reason Professor Harvey Coates gives his time, his talent, his art - and his money - to Telethon Kids was sparked by a boy and a girl whose ...

        News & Events

        Large-scale study uncovers a single major genetic risk factor for fatal parasitic disease

        Research has identified a critical genetic risk factor for a potentially fatal parasitic disease that affects up to 400 thousand people a year, mostly children. ...

        Research

        CD8+XCR1neg Dendritic Cells Express High Levels of Toll-Like Receptor 5 and a Unique Complement of Endocytic Receptors

        Our data demonstrate that CD8+XCR1neg DCs possess a unique pattern of endocytic receptors and a restricted TLR profile that is particularly enriched for TLR5 ...

        Research

        Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

        Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. ...

        Research

        CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

        Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

        2016 Round 2 Seed Funding Recipients

        The Wesfarmers Centre is pleased to announce the successful applications for the 2016 Round 2 Wesfarmers Centre Seed Funding. The Wesfarmers Centre ...

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