Anne Goriely
{{Short description|British geneticist and academic}}
{{Infobox scientist
| name = Anne Goriely
| workplaces = University of Oxford
Rockefeller University
Weill Cornell Medicine
| alma_mater = Université libre de Bruxelles
| fields = Genetics
Development
Mutations
| website = {{Official URL}}
}}
Anne Goriely is a Belgian geneticist who is a professor of human genetics at the University of Oxford. Her research investigates the molecular mechanisms that underpin genetic variation, particularly mutations in the male germline.{{Google scholar id}}{{EuropePMC}}
Early life and education
Goriely was an undergraduate student in agronomy at the Université libre de Bruxelles. Her doctoral research investigated the developmental biology of nervous systems in the fruit fly Drosophila melanogaster.{{Cite web |date=2017-07-21 |title=SFARI {{!}} Anne Goriely |url=https://www.sfari.org/people/anne-goriely/ |access-date=2022-12-14 |website=sfari.org |language=en-US}} She was a graduate researcher at the Weill Cornell Medicine and Rockefeller University.{{citation needed|date=December 2022}} She is the sister of Alain Goriely.
Research and career
In 2000, Goriely joined the University of Oxford as a postdoctoral researcher with Andrew Wilkie.{{Cite web |date=2021-10-08 |title=Anne Goriely |url=https://www.simonsfoundation.org/people/anne-goriely/ |access-date=2022-12-14 |website=simonsfoundation.org |language=en-US}}{{Cite web |date=2014-05-03 |title=Germline Selection |url=https://evmedreview.com/germline-selection/ |access-date=2022-12-14 |website=evmedreview.com|publisher=The Evolution and Medicine Review |language=en-US}} She remained in Oxford to establish her own research group in clinical genetics.{{Cite web |title=Goriely Group: Clinical genetics — Radcliffe Department of Medicine |url=https://www.rdm.ox.ac.uk/about/our-divisions/nuffield-division-of-clinical-laboratory-sciences/nuffield-division-of-clinical-laboratory-sciences-research/clinical-genetics-goriely |access-date=2022-12-14 |website=rdm.ox.ac.uk}} She studies mutations – the origin of all genetic variations. 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.{{Cite web |title=Anne Goriely |url=https://www.rdm.ox.ac.uk/people/anne-goriely |access-date=2022-12-14 |website=rdm.ox.ac.uk |language=en}}
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.{{Cite journal |last1=Goriely |first1=Anne |last2=McGrath |first2=John J. |last3=Hultman |first3=Christina M. |last4=Wilkie |first4=Andrew O.M. |last5=Malaspina |first5=Dolores |date=2013-06-01 |title="Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders |journal=The American Journal of Psychiatry |volume=170 |issue=6 |pages=599–608 |doi=10.1176/appi.ajp.2013.12101352 |issn=0002-953X |pmc=4001324 |pmid=23639989}} These disorders include Apert syndrome, Achondroplasia, Noonan syndrome and Costello syndrome. Goriely has argued that more attention needs to be paid to male fertility.{{Cite web |date=2016-03-19 |title='There was nothing wrong with my wife – it was me': the men waking up to fertility problems |url=http://www.theguardian.com/society/2016/mar/19/nothing-wrong-wife-it-was-me-men-fertility-problems |access-date=2022-12-14 |website=The Guardian|first=Kate|last= Lyons|language=en}}
Goriely describes these as paternal age effect disorders,{{Cite journal |last1=Goriely |first1=Anne |last2=Wilkie |first2=Andrew O. M. |date=2012-02-10 |title=Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease |journal=The American Journal of Human Genetics |language=English |volume=90 |issue=2 |pages=175–200 |doi=10.1016/j.ajhg.2011.12.017 |issn=0002-9297 |pmc=3276674 |pmid=22325359}} 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.{{Cite web |date=2022-11-08 |author=Anon|title=Increased paternal age may give rise to disease in the new generation |url=https://www.news-medical.net/news/20221108/Increased-paternal-age-may-give-rise-to-disease-in-the-new-generation.aspx |access-date=2022-12-14 |website=news-medical.net |language=en}}
= Selected publications =
Her publications{{Scopus id}} include:
- Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension{{Cite Q|Q44607276}}
- Factors influencing success of clinical genome sequencing across a broad spectrum of disorders{{Cite Q|Q36147983}}
- Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease{{Cite Q|Q28259472}}
References
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Category:Université libre de Bruxelles alumni
Category:Academics of the University of Oxford
Category:20th-century British women scientists
Category:21st-century British women scientists
Category:Year of birth missing (living people)
Category:British women geneticists