Genetic Repositories Australia

BACKGROUNDBACKGROUND

GRA supported by an NHMRC Enabling Facility Grant awarded in GRA supported by an NHMRC Enabling Facility Grant awarded in 2006.2006.

Chief Investigators on the NHMRC Enabling Grant are –Chief Investigators on the NHMRC Enabling Grant are – Professor Peter Schofield Professor Peter Schofield (Prince of Wales Medical Research (Prince of Wales Medical Research Institute & University of New South Wales)Institute & University of New South Wales)

Dr Juleen Cavanaugh Dr Juleen Cavanaugh (Australian National University, Medical School, (Australian National University, Medical School, Canberra Hospital)Canberra Hospital)

Dr Susan Forrest Dr Susan Forrest (Australian Genome Research Facility)(Australian Genome Research Facility) Professor John Hopper Professor John Hopper (Centre for Genetic Epidemiology (Centre for Genetic Epidemiology University of Melbourne)University of Melbourne)

GRA is based at the Prince of Wales Medical Research Institute in GRA is based at the Prince of Wales Medical Research Institute in Sydney.Sydney.

Facility Manager is Mr Steve Turner.Facility Manager is Mr Steve Turner.

GRA - Aims and Objectives

GRA aims to provide a central national facility for –GRA aims to provide a central national facility for –• establishingestablishing• distributing anddistributing and• maintaining the long-term secure storage of human genetic maintaining the long-term secure storage of human genetic samples from a variety of sources.samples from a variety of sources.

GRA aims to facilitate world-class collaborative health and medical GRA aims to facilitate world-class collaborative health and medical research in Australia, and internationally through:research in Australia, and internationally through:

the provision of clinically validated but de-identified patient the provision of clinically validated but de-identified patient materialmaterialcomplete phenotypic descriptors of disease and family, or cohort complete phenotypic descriptors of disease and family, or cohort structure structure permits genetic analyses for disease gene identification.permits genetic analyses for disease gene identification.

GRA - Services

A central facility for the processing of blood samples and production A central facility for the processing of blood samples and production of B-lymphoblastoid cell lines.of B-lymphoblastoid cell lines.

Extraction of DNA from blood or cell lines.Extraction of DNA from blood or cell lines.

Samples will be processed from patients, controls and Samples will be processed from patients, controls and epidemiological participants from studies on a range of diseases and epidemiological participants from studies on a range of diseases and their outcomes.their outcomes.

DNA and immortalized cell lines will be stored for distribution to DNA and immortalized cell lines will be stored for distribution to qualified investigators.qualified investigators.

Samples available for distribution will be processed at a subsidised Samples available for distribution will be processed at a subsidised academic rate.academic rate.

Fee-for-service work can be performed for samples not available for Fee-for-service work can be performed for samples not available for distribution.distribution.

GRA

FURTHER INFORMATIONFURTHER INFORMATION

Mr Steve TurnerMr Steve Turner, , Facility Manager (GRA)Facility Manager (GRA)Prince of Wales Medical Research InstitutePrince of Wales Medical Research InstituteRandwick, Sydney, Randwick, Sydney,

Email: Email: gra@unsw.edu.au

Telephone: (+ 61 2) 9399 1068 Telephone: (+ 61 2) 9399 1068

Website: Website: www.powmri.edu.au/gra.htm

The ARCBS Aussie Normals

1000 ARCBS blood donors – healthy Caucasians

Cell lines & DNA

DNA available in 96 well plates from mid April 2007

Biochemical phenotype available via collaboration with researchers (Cavanaugh & Hickman @ ANU)

Projects subject to approval by ARCBS

AGRF Services

SNP Discovery

Genotyping

Expression analysis