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

Mallett, Andrew, Patel, Chirag, Maier, Barbara, McGaughran, Julie, Gabbett, Michael, Takasato, Minoru, Cameron, Anne, Trnka, Peter, Alexander, Stephen I., Rangan, Gopala, Tchan, Michel C., Caruana, Georgina, John, George, Quinlan, Cathy, McCarthy, Hugh J., Hyland, Valentine, Hoy, Wedy E., Wolvetang, Ernst, Taft, Ryan, Simons, Cas, Healy H. and Little, Melissa (2015) A protocol for the identification and validation of novel genetic causes of kidney disease. BMC Nephrology, 16 152: . doi:10.1186/s12882-015-0148-8

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Author Mallett, Andrew
Patel, Chirag
Maier, Barbara
McGaughran, Julie
Gabbett, Michael
Takasato, Minoru
Cameron, Anne
Trnka, Peter
Alexander, Stephen I.
Rangan, Gopala
Tchan, Michel C.
Caruana, Georgina
John, George
Quinlan, Cathy
McCarthy, Hugh J.
Hyland, Valentine
Hoy, Wedy E.
Wolvetang, Ernst
Taft, Ryan
Simons, Cas
Healy H.
Little, Melissa
Title A protocol for the identification and validation of novel genetic causes of kidney disease
Journal name BMC Nephrology   Check publisher's open access policy
ISSN 1471-2369
Publication date 2015-09-15
Year available 2015
Sub-type Article (original research)
DOI 10.1186/s12882-015-0148-8
Open Access Status DOI
Volume 16
Issue 152
Total pages 10
Place of publication London, United Kingdom
Publisher BioMed Central
Collection year 2016
Language eng
Formatted abstract
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.

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.

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.
Keyword Chronic kidney disease
Genetic sequencing
Induced pluripotent stem cell
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

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