In 2000, Goriely joined the University of Oxford as a postdoctoral researcher with Andrew Wilkie.[4][5][6] She remained in Oxford to establish her own research group[4] in clinical genetics.[7][8] She studies mutations – the origin of all genetic variations.[5] By investigating and understanding mutations, Goriely aims to better understand disease and evolution. As mutations arise from random miscopying events and are mainly from the paternal germline, Goriely has studied mutations and the regulation of cell fates in male germline stem cells. She primarily makes use of genetic sequencing.[3]
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.[9] These disorders include Apert syndrome, Achondroplasia, Noonan syndrome and Costello syndrome.[8] Goriely has argued that more attention needs to be paid to male fertility.[10]
Goriely describes these as paternal age effect disorders,[11] 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.[12]
