Dr. Tony Roscioli

Biography

Dr. Tony Roscioli is a clinical geneticist at Sydney Children's Hospital and an Associate Professor of Neurogenomics at the University of New South Wales (UNSW) Medicine. His clinical training spans fields such as pediatric internal medicine, human genetics, and dysmorphology, with a strong focus on gene identification related to developmental anomalies and congenital malformations. His research training began with an 18-month Royal Children's Hospital Foundation Research Fellowship in craniofacial biology, leading to four papers immediately associated with this research and nine additional publications in the subsequent years. During his PhD studies at UNSW, which was supported by a NHMRC postgraduate medical dental scholarship, he produced significant papers, including one in Nature Genetics on a novel primary immunodeficiency (SP110). Following this, he was awarded an NHMRC Overseas Biomedical Postdoctoral Fellowship, during which he worked at the Department of Human Genetics at Radboud University Nijmegen Medical Centre in the Netherlands, gaining valuable experience focusing on genomic medicine for disorders related to neuronal migration and intellectual disabilities. Over the past decade, Dr. Roscioli has published 15 new disease genes, employing techniques such as exome sequencing and SNP arrays. He has also co-authored competitive grants in Australia and recently supervised PhD students in genomics, contributing to co-authorship in a publication in Nature Genetics.

Research Interests

Experience