Anne Goriely
Alma materUniversité libre de Bruxelles
Scientific career
FieldsGenetics
Development
Mutations[1]
InstitutionsUniversity of Oxford
Rockefeller University
Weill Cornell Medicine
Websitewww.rdm.ox.ac.uk/people/anne-goriely

Anne Goriely is a British 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.[1][2][3]

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.[4] She was a graduate researcher at the Weill Cornell Medicine and Rockefeller University.

Research and career

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]

Selected publications

Her publications[1][2][13] include:

  • Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension[14]
  • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders[7]
  • Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease[15]

References

  1. 1 2 3 Anne Goriely publications indexed by Google Scholar
  2. 1 2 Anne Goriely publications from Europe PubMed Central
  3. 1 2 "Anne Goriely". rdm.ox.ac.uk. Retrieved 2022-12-14.
  4. 1 2 3 "SFARI | Anne Goriely". sfari.org. 2017-07-21. Retrieved 2022-12-14.
  5. 1 2 "Anne Goriely". simonsfoundation.org. 2021-10-08. Retrieved 2022-12-14.
  6. ↑ "Germline Selection". evmedreview.com. The Evolution and Medicine Review. 2014-05-03. Retrieved 2022-12-14.
  7. 1 2 Jenny C Taylor; Hilary C Martin; Stefano Lise; et al. (18 May 2015). "Factors influencing success of clinical genome sequencing across a broad spectrum of disorders". Nature Genetics. 47 (7): 717–726. doi:10.1038/NG.3304. ISSN 1061-4036. PMC 4601524. PMID 25985138. Wikidata Q36147983.
  8. 1 2 "Goriely Group: Clinical genetics — Radcliffe Department of Medicine". rdm.ox.ac.uk. Retrieved 2022-12-14.
  9. ↑ Goriely, Anne; McGrath, John J.; Hultman, Christina M.; Wilkie, Andrew O.M.; Malaspina, Dolores (2013-06-01). ""Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders". The American Journal of Psychiatry. 170 (6): 599–608. doi:10.1176/appi.ajp.2013.12101352. ISSN 0002-953X. PMC 4001324. PMID 23639989.
  10. ↑ Lyons, Kate (2016-03-19). "'There was nothing wrong with my wife – it was me': the men waking up to fertility problems". The Guardian. Retrieved 2022-12-14.
  11. ↑ Goriely, Anne; Wilkie, Andrew O. M. (2012-02-10). "Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease". The American Journal of Human Genetics. 90 (2): 175–200. doi:10.1016/j.ajhg.2011.12.017. ISSN 0002-9297. PMC 3276674. PMID 22325359.
  12. ↑ Anon (2022-11-08). "Increased paternal age may give rise to disease in the new generation". news-medical.net. Retrieved 2022-12-14.
  13. ↑ Anne Goriely publications indexed by the Scopus bibliographic database. (subscription required)
  14. ↑ Ruth Diez del Corral; Isabel Olivera-Martinez; Anne Goriely; Emily Gale; Malcolm Maden; Kate Gillian Storey (1 September 2003). "Opposing FGF and retinoid pathways control ventral neural pattern, neuronal differentiation, and segmentation during body axis extension". Neuron. 40 (1): 65–79. doi:10.1016/S0896-6273(03)00565-8. ISSN 0896-6273. PMID 14527434. Wikidata Q44607276.
  15. ↑ Anne Goriely; Andrew O M Wilkie (10 February 2012). "Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease". American Journal of Human Genetics. 90 (2): 175–200. doi:10.1016/J.AJHG.2011.12.017. ISSN 0002-9297. PMC 3276674. PMID 22325359. Wikidata Q28259472.
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