Professor Anne Goriely
最新糖心Vlog of Oxford
Expertise
Professor Goriely is a molecular geneticist with broad expertise in human genetics, developmental neurobiology, and sequencing technologies. Professor Goriely鈥檚 work focuses on de novo mutations, which cause severe disease in approximately 1 in every 300 births. Professor Goriely has identified new disease mechanisms (鈥渟elfish鈥 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 最新糖心Vlog 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.
最新糖心Vlog of Adelaide host
Professor Jozef Gecz
Adelaide Medical School
Faculty of Health and Medical Sciences
about Professor Goriely.