Australian Functional

Genomics Conference



ALL AttendeeS are welcome to Join us for A FaESTING TABLE Dinner Friday Night

Location: Cloud 9 Cafe, Level 9, VCCRI

Cost: free for all registered attendees

Feasting table menu: 

-Moroccan chicken. Hommus, tomato & onion salad, yoghurt 

- Stuffed roasted capsicum, spicy rice, mint & feta

Roasted cauliflower salad

- Potato gratin

- Mini pavlovas , cream, berries


Friday Night Dinner
Cloud 9, VCCRI


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


Kym Boycott is Professor of Pediatrics at University of Ottawa, Clinical Geneticist at CHEO, and Senior Scientist at CHEO Research Institute. Her research program in rare disease genomics bridges clinical medicine and basic research to improve diagnosis and care. She leads Care4Rare Canada, a national consortium integrating genomics to discover the genetic causes of rare disease and improve the health and wellbeing of affected families. To leverage these genetic discoveries, she co-leads the Canadian RDMM Network that catalyzes model organism research to understand the molecular mechanisms of rare disease genes. Globally, she moves the rare disease agenda forward through her roles in numerous international initiatives.

Brain and Mind Research Institute, Canada

Prof. Kym Boycott


Prof Riess, MD, is full professor for Medical Genetics, director of the Institute of Medical Genetics and Applied Genomics and of the Rare Disease Center Tübingen. Main research focus is on neurodegenerative and syndromal diseases. He was and is coordinator of numerous European projects such as EUROSCA, MEFOPA, TECHGENE, RATstream, Neuromics, and SOLVE-RD. His team became one of the German NGS competence centers. From 2016 to 2017 he served as President of the European Society of Human Genetics (ESHG) and he is currently Vice president of the German Human Genetics Society.  Published >400 papers. 

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

Functional Genomics approaches to study pain perception

Elucidating the genetic basis of human lymphatic vessel disorders

Using zebrafish to understand genes involved in muscle development.

Using phosphoproteomics for the discovery of neurological disease-related signalling pathways.

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

Coupling Population Genetics to Drug Discovery for Cardiac Therapeutics

Human Cardiac Organoids as a Model System

Identification and verification of novel disease causing mutations in Autoinflammatory disease

Duplication and deletion of key SOX9 enhancers cause

sex reversal in humans

Determining the probability of pathogenicity of all missense variants in KCNH2, the genetic basis of congenital long QT syndrome type 2

The importance of functional genomics for gene discovery and diagnosis of neuromuscular disorders

Kidney organoids for disease modelling and drug screening applications

Functional genomics: Bridging the gap between diagnosis and therapy

Interpretation of genetic variation in precision oncology

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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