14th GeneMappers Conference 2019


Join us for the 14th GeneMappers Conference on the 20-22nd November 2019!  

The 2019 GeneMappers meeting will be a very special event, being the 20th anniversary of the first meeting which was held in Thredbo, New South Wales in 1999. Thus the meeting is returning to New South Wales this year, with a beautiful venue on Sydney harbour foreshore in Manly, around 30 minutes from Sydney City, and an attractive historic site.  Registration links are below.

Venue: Q station, Sydney Harbour National Park, Manly, NSW


Schedule & Key Dates

20 May 2019 – Abstract submission, early bird registration & accommodation bookings open

16th August 2019 – Regular registration available

1 September 2019 – Extended abstract submission closes

20 November 2019 – Conference starts

Full Schedule (pdf) – updated 13/11

Schedule at a glance


20th November

  • Lunch (12:00pm – 1:15pm; in Exhibition Hall)
  • Conference Welcome (1:15pm – 1:30pm)
  • Session 1: Biobank studies & epidemiology (1:30pm – 3:00pm)
  • Afternoon tea (3:00pm – 3:45pm; in Exhibition Hall)
  • New technologies workshop – Gold sponsor: ILLUMINA (3:15pm – 3:45pm)
  • Session 2: Gene expression and functional genomics (3:45pm – 5:00pm)
  • Session 3: Retrospective: A gene mappers journey (5:00pm – 5:30pm)
  • Evening Networking Function (6:00pm-9.30pm: includes drink service and substantial canapes – in leu of sit down formal dinner)
Registration desk opens (11:00am – 1:15pm)









21st November

  • Optional early morning kayak (7:30am – 8:30am; safety briefing & distribution of gear commences at 7am at Quarantine Beach)
  • Session 4: Population Genetics I (9:00am – 10:05am)
  • Session 5: Lightning Talks (10:05am – 10:45am)
  • Morning tea (10:45am – 11:30am; in Exhibition Hall)
  • New technologies workshop – Silver sponsor: EPPENDORF (11:00am – 11:30am)
  • Session 6: GWAS (11:30am – 1:00pm)
  • Lunch (12:00pm – 1:15pm; in Exhibition Hall)
  • Session 7: GWAS, causal associations & Mendelian randomisation (2:00pm – 3:15pm)
  • Afternoon tea (3:15pm – 3:30pm; in Exhibition Hall)
  • Session 8: Analysis of rare variants, Mendelian disorders and families (3:30pm – 5:00pm)
  • Session 9: Poster viewing (5:00pm-6.30pm, includes wine & cheese)
  • Dinner on your own (Dinner bookings can be made onsite for Boilerhouse Restaurant, pop into Engine Room Bar or prebook a “Ghosty Dine” package with Q Station, or stroll into Manly and check out the restaurants there)
Breakfast from 7am if staying on-site














22nd November

  • Session 10: Population Genetics II (9:00am – 10:30am)
  • Morning tea (10:30am – 11:15am; in Exhibition Hall)
  • New technologies workshop – Silver sponsor: OXFORD NANOPORE TEHCNOLOGIES (10:45am – 11:15am)
  • Session 11: Translation into clinical practice (11:15am – 12:45pm)
  • Awards & Conference close (12:45am – 1:00pm)
  • Lunch (1:00pm – 2:00pm; in Exhibition Hall)
Breakfast from 7am if staying on-site






Registration & Accommodation Bookings


Registration & Accomodation Bookings are now closed – late registrations after 31 October 2019 may be possible via special request email digital@neura.edu.au








For further information and late registration requests please contact: genemappers2019@neura.edu.au




Speaker Lineup & Themes


2019 Conference Themes

Analysis of rare variants, Mendelian traits and families

Biobank studies


Gene expression & functional genomics

Population genetics

 Translation into clinical practice





Cathryn Lewis, King’s College London, UK

Cathryn Lewis is Professor of Genetic Epidemiology & Statistics at King’s College London, where she leads the Statistical Genetics Unit. Her academic training is in mathematics and statistics, and she has been involved in genetic studies since her PhD. She co-chairs the Psychiatric Genomics Consortium Major Depressive Disorder Working group, and leads the NIHR Maudsley BRC Biomarkers and Genomics theme. Her multi-disciplinary research group identifies and characterises genetic variants conferring risk of disease, including depression, schizophrenia, and stroke. A major focus is risk assessment, determining how the polygenic component of mental health disorders can be measured accurately and communicated effectively.


Mike Boehnke, University of Michigan, USA




Professor Michael Boehnke is the Richard G. Cornell Distinguished University Professor of Biostatistics and Director of the University of Michigan Center for Statistical Genetics and Genome Science Training Program. Dr. Boehnke’s research focuses on problems of study design and statistical analysis of human genetic data with a particular emphasis on development and application of statistical methods for human gene mapping, with a current focus on disease and trait association studies based on genome sequence and genotype-array data. He is principal investigator of the Finland-United States Investigation of NIDDM (FUSION) study of the genetics of type 2 diabetes, the GoT2D and T2D-GENES type 2 diabetes sequencing studies, and the BRIDGES and InPSYght sequencing studies of bipolar disorder and schizophrenia.





Dr Kaitlin Samocha, Wellcome Sanger Institute, UK

Dr Kaitlin Samocha is currently a postdoctoral fellow at the Wellcome Sanger Institute where she works both the Deciphering Developmental Disorders (DDD) and DECIPHER projects.

The focus of her research career has been on developing methods and statistical tools to improve interpretation of genetic variation, particularly in the context of rare disease diagnosis. Currently, she is investigating how multiple genetic factors may interact to cause severe developmental disorders with the joint goals of providing much needed diagnoses to those patients without one and uncovering the pathophysiology of developmental disorders.

Daniel MacArthur, Broad Institute of MIT and Harvard Medical School

Daniel MacArthur is co-director of the Medical and Population Genetics Program at the Broad Institute of MIT and Harvard Medical School.

Daniel completed his PhD in Sydney (Australia), then served as a postdoctoral fellow at the Wellcome Trust Sanger Institute (UK) and now co-leads the Broad’s Center for Mendelian Genomics and is group leader in the Analytic and Translational Ge netics Unit at Massachusetts General Hospital. His work revolves around the use of large-scale genomic data to interpret genetic variants, particularly in the context of rare, severe genetic diseases. MacArthur team has assembled the largest collection of sequences of the protein-coding region (exome) of the human genome, creating the Genome Aggregation Database (gnomAD), a default reference database of DNA sequence data from >140,000 individuals. At the Broad Institute’s Center for Mendelian Genomics, MacArthur uses DNA and RNA sequencing technologies to investigate the genetic basis of rare diseases in thousands of families every year, returning genetic diagnoses to over 2,000 families to date, and identifying over 150 new candidate genes associated with a wide variety of diseases.



Stephen Leslie, University of Melbourne





Associate Professor Stephen Leslie is a statistician working in the field of mathematical genetics. He obtained his doctorate from the Department of Statistics, University of Oxford in 2008. After graduating Stephen was a post-doctoral researcher in the Department of Statistics at Oxford. He was awarded one of Oxford’s prestigious Nuffield Department of Medicine Scientific Leadership Fellowships.  In 2012 Stephen returned to Australia to establish his own research group. Since 2016 Stephen has been Associate Professor of Statistical Genomics at the University of Melbourne. In 2016 Stephen was awarded the Woodward Medal by the University of Melbourne, the University’s highest award for research by faculty. In 2019 Stephen was awarded the Moran Medal of the Australian Academy of Science.

Stephen’s work covers several aspects of statistical and population genetics. His main interests are in detecting and controlling for population differences in genetic data; typing complex genetic variation, with a particular focus on immune-associated loci; and performing statistically rigorous analyses of the relationship of genetic variants to disease.




Alistair Forrest, University of Western Australia, Perth



Professor Alistair Forrest is an NHMRC senior research fellow and head of the systems biology and genomics lab at the Harry Perkins Institute of Medical Research in Western Australia. He is an expert in transcriptomics, and as scientific coordinator of FANTOM5, led the international consortium to globally map human promoters, enhancers, microRNAs and long non-coding RNAs using Cap Analysis of Gene Expression and RNA-seq. He researches broadly in the areas of genomics, transcriptomics and systems biology, and is interested in describing the biological components encoded in our genomes and how they work together in systems. His lab has two major research streams: single cell analysis of tumours (he leads the Western Australian cancer single cell consortium and the ACRF Centre for Advanced Cancer genomics); and mapping enhancers of known Mendelian disease genes and assessing their role in genetic disease. The common thread between these streams is application of genome wide measurements and integrative analysis.

Sarah Medland, QIMR, Brisbane



Professor Sarah Medland is a statistical geneticist working on mental health and neurological traits. She received her PhD in 2006 from the University of Queensland, followed by a Sidney Sax NHMRC Post-doctoral Fellowship at the Virginia Institute of Psychiatric and Behavioral Genetics in USA. She is currently the coordinator of the mental health research program and head of the psychiatric genetics group at QIMR Berghofer Medical Research Institute. As chair of the genetics team of ENIGMA neuro-imaging genetics consortium, Sarah has played a leading role in large multi-site studies identifying genetic variants influencing brain structure in healthy and disease-focused cohorts. She is also the PI of nation-wide studies recruiting large cohorts of individuals diagnosed with ADHD, ASD, Bipolar, Depression and Schizophrenia which are seeking to identify genetic variants associated with developing these disorders and variation in treatment response.

Ingrid Scheffer, University of Melbourne, Austin Health & The Royal Children’s Hospital, Melb




Laureate Professor Ingrid Scheffer AO MBBS PhD FAA FAHMS is a physician-scientist whose work as a paediatric neurologist and epileptologist at the University of Melbourne and the Florey Institute has led the field of epilepsy genetics over more than 25 years, in collaboration with Professor Samuel Berkovic and molecular geneticists. This resulted in identification of the first epilepsy gene and many genes subsequently. Her major interests are in the genetics of the epilepsies, epilepsy syndromology and classification, and translational research. She collaborates on research on the genetics of speech and language disorders, autism spectrum disorders, cortical malformations and intellectual disability. She led the first major reclassification of the epilepsies in 28 years, published in March 2017, for the International League Against Epilepsy. In 2014, she was elected as a Fellow of the Australian Academy of Science and also as Vice-President and Foundation Fellow of the Australian Academy of Health and Medical Sciences. She was a co-recipient of the 2014 Prime Minister’s Prize for Science. In 2018 she was elected to the Royal Society (London).

Tony Roscioli, Sydney Children’s Hospital, NSW Health pathology Randwick & NeuRA

A/Professor Tony Roscioli is a clinical geneticist at Sydney Children’s Hospital, senior staff specialist in genomic pathology at NSWHEALTH pathology Randwick, and Group leader in Neurogenomics at NeuRA, University of New South Wales. His research interests in gene identification, with a focus on disorders of neuronal migration, intellectual disability (ID) and craniosynostosis/orofacial clefting, have stemmed from clinical training in the field of developmental anomalies/congenital malformations. A/Prof Roscioli was awarded an NHMRC Overseas Biomedical Postdoctoral Fellowship, taking him to Radboud University Nijmegen Medical Centre in The Netherlands, where he received valuable training in genomic medicine. Gene identification has subsequently been a major research emphasis, culminating in 24 disease gene identifications and 6 Nature Genetics papers. He has worked in translational genomics in Sydney since 2012, guiding two laboratories to clinical accreditation, designing practical genomic consent forms, and co-ordinating genomic education for professionals. He was recently awarded a fellowship of the UK College of Pathologists and leads a Centre of Research Excellence and Australian Genomics Health Alliance flagship in neurocognitive disorders as well as the SPHERE initiative, GenomeConnect.

Retrospective presenter session:

Nick Martin (QIMR Berghofer Medical Research Institute) & Eric Moses (Curtin University & University of Western Australia) will be presenting a “genemappers retrospective” with John Blangero (University of Texas Rio Grande Valley)





Meeting Sponsors:


NSW Health

Sponsorship will support the international speakers, with overarching aim to grow and promote the research environment in NSW, build research capacity and encourage collaboration in the health and medical research sector.





Gold Sponsorship





Silver Sponsorship










Coffee sponsor:



Promotional Products Sponsor:

Boost loho

Related courses and meetings of interest


  • Mendelian Randomization (MR) Course – Hosted by University of Queensland at Princess Alexandra Hospital, Brisbane QLD – Wednesday 6 November 2019. Mendelian randomization (MR) studies use genetic variants as instrumental variables to test the causal effect of a (non-genetic) risk factor on an outcome of interest. This course aims to provide an introduction to the conduct, assumptions, strengths and limitations of Mendelian randomization studies. Download the course flyer here. 
  • Please note that the inaugural Australian Polygenic Risk Symposium will be running immediately before GeneMappers on 18-19 November 2019 in Sydney. APRS will be hosted by the Kinghorn Centre for Clinical Genomics at the Garvan Institute of Medical Research will bring together researchers, clinicians, educators and industry to focus on the applications of polygenic risk and its clinical implementation. Why not register for both?


2019 Organising Committee

Co-convenor: Jan Fullerton (Neuroscience Research Australia)
Co-convenor: Carol Dobson-Stone (University of Sydney)
Co-convenor  Joseph Powell (Garvan Institute)
Peter Schofield (Neuroscience Research Australia)
Marina Kennerson (ANZAC Research Institute & University of Sydney)
Irina Voineagu (University of New South Wales)
Georgia Chenevix-Trench (QIMR Berghofer Medical Research Institute)
Nick Martin (QIMR Berghofer Medical Research Institute)
Lyn Griffiths (Queensland University of Technology)
Stuart MacGregor (QIMR Berghofer Medical Research Institute)
David Evans (University of Queensland Diamantina Institute)
Melanie Bahlo (Walter and Eliza Hall Institute)
Justin Rubio (University of Melbourne)
Eric Moses (Curtin University & University of Western Australia)
Nicola Armstrong (Murdoch University)
Jac Charlesworth (University of Tasmania)
Alex Hewitt (University of Tasmania)

Jozef Gecz (University of Adelaide)

Location Map: