معرفی
Professor Anne Goriely is a Professor of Human Genetics at the University of Oxford's Radcliffe Department of Medicine. Her research focuses on understanding the mechanisms of genetic mutations, particularly in the context of paternal age effects and their association with congenital disorders such as Apert syndrome and neurodevelopmental disorders. She leads the Goriely Group, investigating genetic mosaicism and the role of RAS signaling pathways in spermatogenesis.
Her work has revealed concepts like 'Selfish Spermatogonial Selection,' explaining how certain mutations enrich in aged testes, increasing transmission risk. This mechanism links paternal age to diseases like schizophrenia and autism. Recent studies include exploring SMAD4 mutations in Myhre syndrome and de novo variants in neurodevelopmental syndromes.
Her publications highlight advancements in germline mutation analysis, personalized recurrence risk counseling (PREGCARE), and the implications of paternal age on genetic disorders. She contributes to clinical genetics through tools like amplimap for NGS data analysis.
