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        Telethon Kids Institute Aboriginal Genetics and Health Studies

        The Telethon Kids Institute Aboriginal Genetics and Health Studies Data Access Committee will consider applications for access to de‐identified DNA variant data generated from studies based at the Institute, including studies carried out in collaboration with The Menzies School of Health Research, Darwin, NT. The DNA variant data available includes data from genome-wide association and sequencing studies. Access to data will be granted to qualified researchers for appropriate health‐related uses.

        The data is deposited in the European Genome‐phenome Archive (EGA) and access is by application to the Telethon Kids Institute Aboriginal Genetics and Health Studies Data Access Committee. Applicants wishing to request access to data from the DAC are asked to complete the Data Access application form and to agree to the terms and conditions laid out in the Data Access Agreement. In assessing applications, the Data Access Committee will consider whether the proposed use of the data falls within the parameters of the consent provided by study participants. The consent form used for studies where sample collection was based at the Menzies School of Health Research is available here. Further information on the application process is provided in the Guidelines and Information document.

        Applicants requesting data from studies where sample collection was based at the Menzies School of Health Research will additionally be required to comply with Key Principles and Statements in the Living Protocol drawn up by the Governance Committee for those studies. These Key Principles and Statements are available in the Guidelines and Information document.

        For further information please contact Dr Sarra Jamieson on AGHS@telethonkids.org.au.

        Quick links

        Documents

        DAC Guidelines and Information

        Data access application form

        Data access agreement for Telethon Kids Institute Aboriginal genetics and health genome-wide association and sequencing studies

        Aboriginal Genetics and Health Studies Projects

        Project 1: Family Study of Ear Health and Metabolic Diseases in a Western Australian Aboriginal Community

        Study description

        A body mass index (BMI) >22kg/m2 is a risk factor for type 2 diabetes (T2D) in Aboriginal Australians. To identify loci associated with BMI and T2D we undertook a genome-wide association study using 1,355,133 quality-controlled single nucleotide polymorphisms (SNPs) genotyped (Illumina 2.5M Duo Beadchip) in 402 individuals in extended pedigrees from a Western Australian Aboriginal community. Imputation using the thousand genomes (1000G) reference panel extended the analysis to 6,724,284 post quality-control autosomal SNPs.

         

        Publications arising from this study

        1. Denise Anderson, Heather J. Cordell, Michaela Fakiola, Richard W. Francis, Genevieve Syn, Elizabeth S. H. Scaman, Elizabeth Davis, Simon J. Miles, Toby McLeay, Sarra E. Jamieson and Jenefer M. Blackwell. (2015) First Genome-Wide Association Study in an Australian Aboriginal Population Provides Insights into Genetic Risk Factors for Body Mass Index and Type 2 Diabetes. PLoS ONE 10(3): e0119333. doi:10.1371/journal.pone.0119333. PMID: 25760438. 
          Study Accession at EGA: https://www.ebi.ac.uk/ega/studies/EGAS00001001004
        2. Dave Tang, Denise Anderson, Richard W. Francis, Genevieve Syn, Sarra E. Jamieson, Timo Lassmann and Jenefer M. Blackwell. (2016) Genotype and exome data for an Australian Aboriginal population: a reference panel for health-based research. Scientific Data. 3:160023. doi: 10.1038/sdata.2016.23. PMID: 27070114.
          Study Accession at EGA: https://www.ebi.ac.uk/ega/studies/EGAS00001001585
        3. Dave Tang, Michaela Fakiola, Genevieve Syn, Denise Anderson, Elizabeth S. H. Scaman, Elizabeth Davis, Simon J. Miles, Toby McLeay, Sarra E. Jamieson, Timo Lassmann and Jenefer M. Blackwell. (2018) Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.  Scientific Reports, 8(1), 10912. doi: 10.1038/s41598-018-29279-9. PMID: 30026549.  (Utilises data from Publications 1 and 2).
        4. Alexia Weeks, Heather D’Antoine, Melita McKinnon, Genevieve Syn, Dawn Bessarab, Ngiare Brown, Steven Y.C. Tong, Bo Reményi, Andrew Steer, Lesley-Ann Gray, Michael Inouye, Jonathan R. Carapetis, Jenefer M. Blackwell, Timo Lassmann. (2019) Reference exome data for Australian Aboriginal populations to support health-based research.  Scientific Data, manuscript to submit. (Updates data from Publication 2). 
          Study Accession at EGA: (coming)

        Project 2: Genome-wide analysis of genetic risk factors for rheumatic heart disease in Australian Aboriginal populations from the Northern Territory

        Study description

        Rheumatic heart disease (RHD) following Group A Streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers pro-inflammatory cardiac valve-reactive T-cells. Genome-wide genetic analysis was undertaken in 1263 Aboriginal Australians (398 RHD cases; 865 controls). Single nucleotide polymorphisms (SNPs) were genotyped using Illumina HumanCoreExome BeadChips. Direct typing and imputation was used to fine-map the human leukocyte antigen (HLA) region.

         

        Publications arising from this study

        1.  Lesley-Ann Gray, Heather D'Antoine, Steven Tong, Melita McKinnon, Dawn Bessarab, Niagre Brown, Bo Reményi, Andrew Steer, Genevieve Syn, Jenefer M. Blackwell, Michael Inouye, Jonathan R. Carapetis. (2017) A genome-wide association study of rheumatic heart disease in Aboriginal Australians provides support for pathogenic molecular mimicry.  Journal of Infectious Diseases, DOI:10.1093/infdis/jix497. PMID: 29029143.
          Study Accession at EGA:  https://www.ebi.ac.uk/ega/studies/EGAS00001002678
        2. Alexia Weeks, Heather D’Antoine, Melita McKinnon, Genevieve Syn, Dawn Bessarab, Ngiare Brown, Steven Y.C. Tong, Bo Reményi, Andrew Steer, Lesley-Ann Gray, Michael Inouye, Jonathan R. Carapetis, Jenefer M. Blackwell, Timo Lassmann. (2019) Reference exome data for Australian Aboriginal populations to support health-based research.  Scientific Data, manuscript to submit. (Presents new exome data from NT and updates WA exome data).
          Study Accession at EGA: (coming)