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Australian Functional

Genomics Conference




LOCATION: Victor Chang Cardiac Research Institute, Sydney
NOV 22-23

On behalf of the Organising Committee, we invite you to the 2nd Australian Functional Genomics Conference, to be held from 22-23 November 2019 at the Victor Chang Cardiac Research Institute, Sydney.

Over the two days, we will bring together the clinical community involved in disease gene discovery and Australian research groups using a diverse array of disease model systems for the characterisation of genetic variants.

Invited speakers will showcase the increasing need to facilitate the clinical interpretation of genetic variants and how Australian functional genomics researchers can help. By combining the diverse knowledge of many aspects of genomic and functional interpretation, we hope to draw out critical discussion and novel approaches to understanding human genomic variation. This is of crucial importance to enable the rapid translation of genomic findings into a patient diagnosis.


Day 1 - Friday, Nov 22: 10 am -5 pm

Day 2 - Saturday, Nov 23: 8:30 am -2:30 pm

Poster session and Dinner, Friday night


International Speakers


Prof. Boycott's research brings together clinical medicine with basic science and is focused on elucidating the molecular pathogenesis of rare inherited neurological diseases using next-generation sequencing approaches. She is the lead investigator of the national consortium FORGE Canada ('Finding of Rare Disease Genes in Canada') project which is investigating the molecular etiology of almost 200 rare paediatric diseases. Related to translating these discoveries to the clinic, Boycott is interested in facilitating incorporation of next-generation sequencing approaches to routine diagnostics and patient care. Kym is also a lead for the Rare Diseases Models and Mechanisms Network that is collaborating with the Australian Functional Genomics Network and groups in Europe and Japan to form an international functional genomics network.

Brain and Mind Research Institute, Canada

Prof. Kym Boycott


Professor Olaf Riess is the head of the Institute of Medical Genetics and Applied Genomics at the University of Tübingen and has more than 20 years of experience in genetic disorders. His group focuses on neurodegenerative diseases, from the clinical as well as the basic research perspective. In his research, he is particularly interested in Parkinson’s, dystonia and spinocerebellar ataxias. He has coordinated numerous international, European and national funded consortia and is currently coordinator of NeurOmics, one of RD-Connect’s key scientific partner projects.

University of Tübingen, Germany

Prof. Olaf Riess


Prof. Inoue is the project director of the Japanese rare disease models and Mechanisms Network (J-RDMMN). J-RDMMN project is promoted under the initiative of Rare and Undiagnosed Diseases (IRUD) by the Japan Agency for Medical Research and Development (AMED).  To utilize and extend the achievements of IRUD research, J-RDMMN is an IRUD Beyond project and aiming to achieve better diagnosis using innovative technologies, development of medical drug candidates and increase international data sharing to facilitate integrated of medically valuable databases.

National Institute of Genetics, Japan

Prof. Ituro Inoue

National Speakers

Australian Functional Genomics Network

Dissecting disease-relevant gene regulation in Caenorhabditis elegans

Drosophila for modelling Mendelian and polygenic disorders

Elucidating the genetic basis of human lymphatic vessel disorders

Using zebrafish to understand genes involved in muscle development

Using proteomics for the discovery of disease-related proteins

Genetic causes contributing to blinding eye diseases to improve diagnosis and treatment

The genetic basis of cardiovascular development

Organoids for discovery of new therapeutics for human disease

Confirmation of autoinflammatory disease mutations using high throughput assays

Cardiovascular Genetics Flagship: incorporating functional genomics into the patient diagnosis workflow 

High throughput electrophysiology to test variants that impact on cardiac and neural cells

Diagnostic RNA-Seq

Mini-kidneys for disease modelling and drug screening

Gene Therapy: Journey to the clinic and health system readiness

Australian Genomic Cancer Medicine Program

The Organiser

Australian Functional Genomics Network

This conference has been organised by the Australian Functional Genomics Network due to the increasing clinical need for functional genomics in the patient diagnostic pipeline.

The AFGN is a national consortium with the principal aim of fostering collaboration between model organism researchers, human geneticists, and clinicians. The AFGN works by harnessing the resource of model systems to determine the potential pathogenicity of disease-linked rare variants, gain a deeper pathophysiological understanding of diseases, and discover potential therapies for patients and families. Therefore enabling a ‘clinic to bench and back’ integrative approach of diagnostic services, incorporating laboratory research and clinical delivery for the efficient understanding of potentially pathogenic gene variants. 

Local Organising Committee: Prof. Sally Dunwoodie, Prof. Richard Harvey and Prof. Patrick Tam.


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