5th International Clinical Genomics Course – Sydney

This 4 day workshop is designed for consultants in genetics and medicine, medical/genetic trainees, scientists and genetic counsellors. Genomic data filtering and analysis will begin with straightforward scenarios and progress to more complex interpretations. Course content includes introductory lectures on Mendelian genomics, variant analysis, genomic pipelines and practical workshops. People with a wide range of experience are invited to attend. The two part course will cover:

Part 1 (Mon-Wed)

  • Understanding genome structure
  • Variant interpretation best practice
  • Use of the Amazon cloud GAIA analysis pipeline
  • Genomic analysis cases of increasing complexity
  • International criteria for variant interpretation
  • Genomic reporting

Part 2 (Thurs)

  • Genetic counselling and consent in the genomic era


Part 1 – Mon 2nd – Wed 4th Dec

Part 2 – Thurs 5th December 2019; 8.30am – 5pm daily


Own computer, bioinformatic knowledge not required, Wi-Fi available


NeuRA, John & Betty Lynch Seminar Room Level 3, Barker St, Randwick, Sydney, Australia (see Map below)



For late registrations, please contact digital@neura.edu.au



A/Prof Tony Roscioli

Group Leader in Neurogenomics, NeuRA 

Clinical Geneticist at the Sydney Children’s Hospital

A/Professor Tony Roscioli is a clinical geneticist at Sydney Children’s Hospital , Group leader in Neurogenomics at NeuRA/Prince of Wales Clinical School, University of New South Wales.  His clinical training has been in the fields of paediatric internal medicine and human genetics with an emphasis on dysmorphology. The basis of his research interests in gene identification has stemmed from his clinical training in the field of developmental anomalies/congenital malformations. A/Prof Roscioli was awarded an NHMRC Overseas Biomedical Postdoctoral Fellowship, the overseas component of which was conducted in the leading European Department of Human Genetics at Radboud University Nijmegen Medical Centre, The Netherlands. This fellowship provided valuable training in genomic medicine with a focus on disorders of neuronal migration, intellectual disability (ID) and craniosynostosis/orofacial clefting. It resulted in four major publications regarding the role of FREM1 in metopic craniosynostosis (PLoS Genetics), PIGV in ID (Nature Genetics), ACTB and ACTG1 in Baraitser-Winter Syndrome (Nature Genetics), and ISPD, a novel glycosyltransferase as a major gene in Walker-Warburg syndrome (Nature Genetics). Gene identification has been a major research emphasis in the past 15 years culminating in the identification of 4 new genes for orofacial clefting (American Journal of Human Genetics). He has worked in translational genomics in Sydney since 2012, being instrumental in guiding two laboratories to clinical accreditation and designing practical genomic consent forms. An important activity has been co-ordinating genomic education for professionals and he has convened 3 successful clinical genomics courses in Sydney and Hong Kong. A/Prof Roscioli has a total of 24 disease gene identifications and 6 Nature Genetics papers. He was recently awarded a fellowship of the UK College of Pathologists and leads a CRE and AGHA flagship in neurocognitive disorders and the SPHERE initiative, GenomeConnect.


Dr Michael Buckley 

Clinical Director and Senior Staff Specialist Genetic Pathologist
Vice-President, Human Genetics Society of Australasia

Dr Michael Buckley is a Genetic Pathologist with Fellowships in Genetics from the Human Genetics Society of Australia, the Royal College of Pathologists of Australasia and the Royal College of Pathologists in the United Kingdom. He is the supervising pathologist of Genome.One Pty Ltd at the Kinghorn Centre for Clinical Genomics.

Dr Buckley’s research interest is principally in disease gene identification in paediatric congenital anomalies; with major publications concerning the identification of the SP110 gene as the cause of a form of severe combined immunodeficiency, the SCL29A3 gene in pigmented hypertrichosis with insulin dependent diabetes mellitus, and the FREM1 gene in metopic craniosynostosis.  Between 2008 and 2011 he was the recipient of a Marie Curie International Incoming Fellowship for a project directed at the implementation of massively parallel sequencing for disease gene identification in diagnostics and in research, a project which is ongoing with the development of a Centre for Medical Genomics within the SEALS Genetic Laboratory. Current research funding includes support for Centre of Research Excellence for Neurocognitive Disorders. Dr Buckley is actively involved in specialist training having held positions as Registrar of the RCPA Board of Censors, RCPA Chief Examiner in Genetics, HGSA Chief Examiner in Molecular Genetics, and is currently the vice-president of the Human Genetics Society of Australasia.


Prof Kristine Barlow-Smith

University of Sydney 

Professor Kristine Barlow-Stewart, BSc (U.Syd), PhD (U.NSW), Genetic Counsellor (FHGSA) was one of the first in Australia to be certified as a genetic counsellor in 1991. She was the Foundation Director of NSW Health’s Centre for Genetics Education from 1989-2012. In 2011 she established the Master of Genetic Counselling program for the University of Sydney. Her teaching and research career has focussed on addressing the information and support needs of the community, education and training needs of professionals and the psychosocial and ethical impact of the rapidly developing field of genetic and genomics technologies. Kristine has contributed widely to development of policies in these areas both State-wide and nationally.



Dr Ying Zhu

Researcher, UNSW Australia

Dr. Ying Zhu received her B.S. degree in Materials Science and Engineering from Huazhong University of Science and Technology, Wuhan, China, in 2009. She then received her PhD degree in Chemistry from the University of New South Wales, Australia (UNSW Australia) in 2015. Following that, she worked as a research associate in Dartmouth College from 2015 to 2016. She is currently an early career postdoc fellow in UNSW Australia.







Dr Carey-Anne Evans