SPHERE Clinical Genomics Course

This 3 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 straight forward scenarios and progress to more complex interpretations. Course content includes introductory short lectures on Mendelian genomics, variation, analysis pipelines and practical workshops.

The course will cover:

  • Understanding of genome structure
  • International criteria for variant interpretation
  • Introductions to what genomic files are and how to analyse them
  • Genomic analysis in Mendelian disorders and reporting

People with a wide range of skills and experience are invited to attend. The workshop is based on real world cases and provides an opportunity to analyse human genomic and variant data in a clinical setting. Participants will require their own computer, bioinformatic knowledge is not required.


Course Fee from June 2018: *$250.00 (AEST) includes all course materials & catering, to register click on the button below
Date & Times: Tuesday 11th – Thursday 13th September 2018 8.30am – 5pm daily
Location:  John & Betty Lynch Seminar Room, Margarete Ainsworth Bld, Barker St, Randwick

*Please note fees are in $AUD and include GST at 10%


Registrations are now closed


Course Tutors:


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.


Dr Carey-Anne Evans 


Dr Cheng Yee Nixon


If you have any further questions regarding the course, please do not hesitate to get in touch. 

Alyssa Wilson, SPHERE Project Officer