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Dr Tony Roscioli is a clinical geneticist at Sydney Children's Hospital and Associate Professor of Neurogenomics, NeuRA, UNSW Medicine.  He currently leads an NHMRC CRE in Neurocognition and the Federal MRFF grant for prenatal genomics, PreGen.

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.

Dr Roscioli's research training commenced with an 18-month Royal Children's Hospital Foundation Research Fellowship in craniofacial biology (resulting in four papers immediately associated with the research and 9 additional papers in later years).  His PhD studies at UNSW were supported by an NHMRC post-graduate medical and dental scholarship and produced three substantive papers, the major of which was in Nature Genetics, describing the genetic basis of a novel primary immunodeficiency (SP110).

Subsequently, Dr Roscioli was awarded an NHMRC Overseas Biomedical Postdoctoral Fellowship, the oversas component of which was conducted in the leading European Department of Human Genetics at Radbound University Nijmegen Medical Centre, The Netherlands.  This fellowship provided  valuable traiing in genomic medicine with a focus on disorders of neuronal migration, intellecutal disability and craniosynostosis / orofacial clefting.  It has resulted in four major publications regarding the role of FREM1 in metatopic craniosynostosis (PLoS Genetics), PIGV in intellectual disability (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 10 years, with the publication of 15 new disease genes. This involved the utilization of complementary techniques including exome sequencing, SNP arrays and homozygosity mapping. Dr Roscioli has co-authored nationally competitive grants including two NHMRC project grants in Australia, a Prinses Beatrix Fonds grant and submitted a CRE in intellectual disability to the NHMRC. He has also co-authored a reference chapter on SP110 and immunodeficiency.

Dr Roscioli is currently supervising two PhD students in genomics, and has previously supervised an honours student in Nijmegen which resulted in co-authorship for her on her first publication (PIGV, Nature Genetics).

Dr Roscioli has taken a leadership role in developing genomic consent forms, which are now approved for use by the HGSA in Australia and New Zealand. Clinical genetic/genomic research skills and expertise in craniofacial and ID disorders will facilitate ongoing success.

Research Keywords:

Mental retardation, genomics, inherited, bioinformatics, gene identification,