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    A protocol for the identification and validation of novel genetic causes of kidney disease

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    Author
    Mallett, A; Patel, C; Maier, B; McGaughran, J; Gabbett, M; Takasato, M; Cameron, A; Trnka, P; Alexander, SI; Rangan, G; ...
    Date
    2015-09-15
    Source Title
    BMC Nephrology
    Publisher
    BMC
    University of Melbourne Author/s
    Little, Melissa
    Affiliation
    Paediatrics (RCH)
    Metadata
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    Document Type
    Journal Article
    Citations
    Mallett, A., Patel, C., Maier, B., McGaughran, J., Gabbett, M., Takasato, M., Cameron, A., Trnka, P., Alexander, S. I., Rangan, G., Tchan, M. C., Caruana, G., John, G., Quinlan, C., McCarthy, H. J., Hyland, V., Hoy, W. E., Wolvetang, E., Taft, R. ,... Little, M. (2015). A protocol for the identification and validation of novel genetic causes of kidney disease. BMC NEPHROLOGY, 16 (1), https://doi.org/10.1186/s12882-015-0148-8.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/257716
    DOI
    10.1186/s12882-015-0148-8
    Abstract
    BACKGROUND: Genetic renal diseases (GRD) are a heterogeneous and incompletely understood group of disorders accounting for approximately 10 % of those diagnosed with kidney disease. The advent of Next Generation sequencing and new approaches to disease modelling may allow the identification and validation of novel genetic variants in patients with previously incompletely explained or understood GRD. METHODS/DESIGN: This study will recruit participants in families/trios from a multidisciplinary sub-specialty Renal Genetics Clinic where known genetic causes of GRD have been excluded or where genetic testing is not available. After informed patient consent, whole exome and/or genome sequencing will be performed with bioinformatics analysis undertaken using a customised variant assessment tool. A rigorous process for participant data management will be undertaken. Novel genetic findings will be validated using patient-derived induced pluripotent stem cells via differentiation to renal and relevant extra-renal tissue phenotypes in vitro. A process for managing the risk of incidental findings and the return of study results to participants has been developed. DISCUSSION: This investigator-initiated approach brings together experts in nephrology, clinical and molecular genetics, pathology and developmental biology to discover and validate novel genetic causes for patients in Australia affected by GRD without a known genetic aetiology or pathobiology.

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