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Australian Functional Genomics Conference 2020

Highlighting the need for functional genomics in the patient diagnostic pipeline



Virtual Meeting

The Speakers


International Experts


large-scale functional genomics


Jay Shendure

MD, PhD, University of Washington, USA

Utilizing large-scale functional genomics analysis

Jay Shendure is an Investigator of the Howard Hughes Medical Institute (HHMI), Professor of Genome Sciences at the University of Washington, Director of the Allen Discovery Center for Cell Lineage Tracing, and Scientific Director of the Brotman-Baty Institute for Precision Medicine. The mission of his lab is to develop and apply new technologies and methods for genetics, genomics and molecular biology. Most of their work exploits next-generation DNA sequencing which is effectively emerging as a broadly enabling microscope for the measurement of biological phenomena. Their ongoing work generally falls into six areas: 1)Developing New Molecular Methods, 2)Genomic Approaches to Developmental Biology, 3) Massively Parallel Functional Genomics, 4) Translating Genomics to the Clinic, 5) Genetic Basis of Human Disease, 6) Genome Sequencing Technologies. 

Jonathan S. Berg,

M.D., Ph.D., University of North Carolina at Chapel Hill

Functional genomic evidence in clinical variant interpretation

Prof. Berg earned his PhD in 2001 and his MD in 2003 from UNC Chapel Hill followed by a residency in Clinical Genetics (2007) and a postdoctoral fellowship (2009) at Baylor College of Medicine. Prof. Berg currently serves as the Director for the Adult and Cancer Genetics Clinic and for the Program in Precision Medicine in Healthcare. He is a Fellow of the American College of Medical Genetics and Genomics and serves as a co-PI on two large consortium grants, ClinGen and NCGENES2. He also serves as a member of the Lineberger Comprehensive Cancer Center, Carolina Institute for Developmental Disabilities, Curriculum in Genetics and Molecular Biology, and the Executive Committee for the Computational Medicine Program.



clinical variant interpretation


Model Organism Development


Hugo Bellen, 

D.V.M., Ph.D., Baylor College of Medicine

The Model Organisms Screening Center for the Undiagnosed Diseases Network

Prof. Bellen is an Investigator of the Howard Hughes Medical Institute and Distinguished Service Professor at Baylor College of Medicine (BCM) in the Departments of Molecular and Human Genetics and Neuroscience.One of the world's premier researchers in Drosophila (fruit fly) genetics, Dr. Bellen's group has made major contributions to our understanding of nervous system development, synaptic transmission and mechanisms of neurodgeneration. As the head of the Drosophila Gene Disruption Project, his laboratory has developed numerous sophisticated genetic tools and generated tens of thousands of reagents that have transformed Drosophila biology. Dr. Bellen's current research focuses on the discovery of new human disease genes and elucidating pathogenic mechanisms of neurodevelopmental and neurodegenerative diseases using fruit flies in collaborations with human geneticists worldwide. His lab is the home of the Model Organism Screening Center for the Undiagnosed Diseases Network of the National Institutes of Health. 


Agenda, Day 1





Large-scale functional genomics

Jay Shendure, University of Washington, USA


Assessment of functional assays for variant interpretation and guidance on the use of various levels of strength based on assay validation

Jonathan Berg, University of North Carolina at Chapel Hill

Break (20mins)



Assay standards for genetic diseases.

  • Renal

       Melissa Little, Murdoch Children's Research Institute

  • Mitochondrial

       David Thorburn, Murdoch Children's Research Institute

         David Stroud, Bio21 Molecular Science & Biotechnology Institute

  • Cardiovascular

       Sally Dunwoodie, Victor Chang Cardiac Research Institute

  • Neuromuscular

       Robert Bryson-Richardson, Monash University

         Gina Ravenscroft, Harry Perkins Institute of Medical Research

  • Neurodevelopmental

       Jozef Gecz, University of Adelaide

Session Question Time

11:50pm - 12:15pm

Panel discussion and closing remarks for day 1

Agenda, Day 2




The Australian Need for Functional Genomics Testing


- Functional Genomics Impact on Acute Care Rapid Genomics

  Zornitza Stark, MCRI, AGHA, VCGS

- Continued need for further research into Rare Diseases

  Nicole Millis, Rare Voices Australia

- Massimo's Mission - increasing diagnosis and treatment options for leukodystrophies

  Stephen Damiani, Mission Massimo Foundation


The Phenogenomics Translation Initiative and Phenomics Australia – Your partners for accelerated discovery and translation

Michael Dobbie, Phenomics Australia

Break (20mins)


The Model Organisms Screening Center for the Undiagnosed Diseases Network,

Hugo Bellen, Baylor College of Medicine


Molecular Medicine - Gene Therapy

John Rasko, Royal Prince Alfred Hospital and Centenary Institute, University of Sydney


Closing remarks


The replay is accessible to all that have registered.

All attendees will have received a password.

If you have not received your email containing the password please contact:


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. 

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