Professor Anne Goriely

University of Oxford

Expertise

Professor Goriely is a molecular geneticist with broad expertise in human genetics, developmental neurobiology, and sequencing technologies. Professor Goriely’s work focuses on de novo mutations, which cause severe disease in approximately 1 in every 300 births. Professor Goriely has identified new disease mechanisms (“selfish” selection) and has developed novel methodologies for ultra-rare mutation detection, and an original strategy of tracking mutations directly in human sperm and/or testes.

Collaborative research project

Professor Goriely will work in collaboration with University of Adelaide researchers to better understand how and why mutations cause disease, with a focus on mosaicism. Tissue-specific mosaicism is often missed in routine clinical analysis, and this project aims to improve diagnostics and opportunities for early intervention through a clearer understanding of how different mechanisms contribute to genetic disorders.

University of Adelaide host

Professor Jozef Gecz
Adelaide Medical School
Faculty of Health and Medical Sciences

More information about Professor Goriely.