Centre for Genetic Epidemiology & Biostatistics

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1 Centre for Genetic Epidemiology & Biostatistics What are the genetic factors involved in determining health and disease in families and in populations? How do they interact with environmental factors? Winthrop Professor Eric Moses Centre Director

2 CORE ACTIVITIES of the Centre Discovery Validation Translation

3 DISCOVERY Genome-wide integrative genomics strategies, with initial emphasis on targeted DNA sequencing of the genome (exome and regulatory regions) in families.. moving to whole genome sequencing at epidemiological scale (Busselton population??) just $$.. being done now elsewhere Collaboration with local/national/international groups with shared vision and complementary family/population resources Key functions of the Centre: study design development of tools for data/project management development and application of statistical genetics methods development and application of bioinformatics

4 VALIDATION The development of new medicines for prevention/treatment of common genetic diseases requires knowledge of the gene(s) and associated causal variation As opposed to rare, monogenic disorders, relatively few causal variants have been identified for common complex diseases most associated SNPs identified by GWAS are not causal Rare, non-synonymous coding sequence variants may soon be found to contribute to some of the missing heritability in common diseases often with obvious functional consequences However, multiple regulatory variants with modest effects will be a large component of heritability currently developing with UWA Winthrop Prof Lawrie Abraham novel high-throughput methods for functional evaluation of regulatory variation at a genome-wide level

5 TRANSLATION Taking validated findings into clinically useful tests and treatments is a major objective Partnerships between big pharma and academia is real opportunity eg, GlaxoSmithKline ( Once again also involves collaboration with local/national/international groups with shared vision and complementary family/population resources Key roles played by the Centre will be: Study Design Data/Project Management Statistical Analysis

6 Participants & Skills Available Sought Local National International Clinical Molecular Genetics Statistical Genetics Functional Genetics Bioinformatics Computer Programming Epidemiology Clinical Statistical Genetics Epidemiology Clinical Molecular Genetics Statistical Genetics Bioinformatics Computer Programming

7 Resources & Infrastructure Available Sought Local Population/family samples and data Supercomputing High-throughput genomics National Internationa l Supercomputing High-throughput genomics Population/family samples and data Supercomputing High-throughput genomics

8 PROGRESS TO DATE Recruitment of internationally competitive statistical geneticist Dr Phillip Melton; Texas Biomed, USA Recruitment of post-doctoral scientists to support molecular and statistical genetics core capabilities Dr Tegan McNab; UWA Dr Nina McCarthy; RCSI, Ireland Reconfigured WA DNA Bank to provide on-going support for existing and new users Application (Paul White) to NeCTAR for funding to complete development of eresearch tools (eg., The Ark) for data (including genetic) and project management in large studies Recruitment of outstanding PhD candidate (in NGS bioinformatics) Juan Manuel Peralta; Texas Biomed, USA Research collaboration underway on preeclampsia/cvd with Raine Study visiting PhD scholar Dr Mari Loset from NTNU, Norway

9 FUTURE PLANS - Research Initiate pilot studies and seek funding (NIH/NHMRC/philanthropic) for collaborative whole exome/genome sequencing studies in family and populationbased cohorts Preeclampsia (Australia, Norway, Finland, Iceland) Schizophrenia (Assen Jablensky & Luba Kalaydjieva; WAIMR) Busselton families (various phenotypes; Alan James, Bill Musk, Matt Knuiman, Jenny Hui & colleagues) Collaboration/seek funding on preterm birth with School for Women s and Infants Health at KEMH John Newnham & Matt Payne (microbiome of amniotic fluid) Craig Pennell (deep re-sequencing of GWAS hits) Move existing NHLBI funded CVD project to Centre

10 FUTURE PLANS - Teaching Establish new Masters Degree in Genetic Epidemiology & Biostatistics (coursework and research)