Anne Goriely

Research and career In 2000, Goriely joined the University of Oxford as a postdoctoral researcher with Andrew Wilkie. She remained in Oxford to establish her own research group She studies mutations – the origin of all genetic variations.

Goriely showed that pathogenic mutations hijack stem production, become enriched in the testis as men age and are likely to be transferred to future generations. She coined the phrase "Selfish Spermatogonial Selection" to describe the link between paternal age and neurodevelopment disorders. These disorders include Apert syndrome, Achondroplasia, Noonan syndrome and Costello syndrome.

Goriely describes these as paternal age effect disorders, and demonstrated that due to principles similar to oncogenesis they spontaneously occur at high levels compared to background rates of mutation. She showed that pathways included the growth factor-receptor-RAS protein signalling cascade. She has shown that these molecular pathways are implicated in other cellular contexts. Selfish Spermatogonial Selection is likely to impact all men as they age, and can increase predisposition to cancer and neurodevelopment disorders such as schizophrenia.

Selected publications Her publications include: Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease