Sara Mole

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Sara Mole
Born
Sarah Elizabeth Mole Crowley[2]
Alma materUniversity of Cambridge (BA)
Imperial College London (PhD)
Scientific career
FieldsCell biology
Batten disease
Neuronal ceroid lipofuscinosis[1]
InstitutionsImperial College London
University of Cambridge
University College London
ThesisA functional and immunochemical analysis of SV40 large T antigen (1986)
Doctoral advisorDavid Lane[2]
Websitewww.ucl.ac.uk/lmcb/users/sara-mole

Sara Elizabeth Mole Crowley is a Professor of Molecular Cell Biology and Provost's Envoy for Gender Equality at University College London and the Great Ormond Street Hospital. She works on diseases caused by genetic changes, in particular neurodegenerative diseases that impact children.[1][3]

Early life and education

Mole studied the Natural Sciences Tripos at the University of Cambridge and graduated in 1983. She moved to Imperial College London for her doctoral studies and was awarded a PhD in 1986 for analysis of the SV40 large T antigen.[2]

Research and career

Mole continued to a postdoctoral fellowship at the Imperial Cancer Research Fund, before moving back to the University of Cambridge for a research position.[4] In 1992, Mole was appointed a lecturer in the Department of Paediatrics at University College London.[5][6] She became a Group Leader in the Medical Research Council Laboratory for molecular cell biology in 2005. She investigates the genetic basis of neuronal ceroid lipofuscinosis diseases.[7]

Mole has extensively investigated the lysosomal disease Batten disease, writing a textbook on the subject and setting up a mutation database and on-line resource web site for patients and their families.[5][8] Batten disease is characterised by the accumulation of autofluorescent material in lysosomes and presents with visual failure, seizures, cognitive impairment and decline in motor abilities.[9]

Mole has contributed to the identification and characterization of thirteen genes that cause Batten disease.[1] Treatments for the majority of these diseases exist only as palliative care.[9] She led a multi-million pound Horizon 2020 research project on Batten disease biology, BATCure, partnering with 14 European institutions and the UK Batten Disease Family Association.[10][11] BATCure looks to develop new treatments for patients suffering from types of Batten disease without therapeutic development; including CLN3 disease.[12][13][14]

Mole uses the model organism Schizosaccharomyces pombe to study CLN3 disease, and found that whilst most young patients with juvenile CLN3 disease neuronal ceroid lipofuscinosis share an intragenic deletion this does not totally abolish function of the CLN3 gene.[15] She showed the some CLN8 disease is caused by large genomic deletions.[16]

In 2013 Mole was awarded the University College London prize for public engagement.[17] In 2018 she was awarded the University College London Provost's Excellence Award for her contribution to gender equality. She serves as Provost's Envoy for Gender Equality, leading the University College London submission to Athena SWAN and leading initiatives to promote equality and inclusion across campus.[5][18] She led the first successful application for a departmental gold Athena SWAN award at University College London.[5][19] At University College London, Mole leads the Women in Leadership network.[citation needed]

Selected publications

Her publications[1][3] include;

  • Mole, Sara (2011). The Neuronal Ceroid Lipofuscinoses. Oxford University Press. doi:10.1093/med/9780199972135.003.0059. ISBN 9780199590018.
  • Mole, Sara (1993). "Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A". Nature. 363 (6428): 458–460. Bibcode:1993Natur.363..458M. doi:10.1038/363458a0. PMID 8099202. S2CID 4349714. Closed access icon
  • Mole, Sara (1999). "The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8". Nature Genetics. 23 (2): 233–236. doi:10.1038/13868. PMID 10508524. S2CID 23920094. Closed access icon
  • Mole, Sara (2012). "Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage". American Journal of Human Genetics. 90 (6): 1102–1107. doi:10.1016/j.ajhg.2012.04.021. PMC 3370276. PMID 22608501.

References

  1. ^ a b c d Sara Mole publications indexed by Google Scholar Edit this at Wikidata
  2. ^ a b c Mole Crowley, Sara Elizabeth (1986). A functional and immunochemical analysis of SV40 large T antigen. london.ac.uk (PhD thesis). University of London. hdl:10044/1/38108. OCLC 930654055. Copac 29526616. Free access icon
  3. ^ a b Sara Mole publications from Europe PubMed Central
  4. ^ Anon (2017-07-31). "Mole_Biography". ucl.ac.uk. Retrieved 2019-07-26.
  5. ^ a b c d Anon (2018-09-04). "Spotlight on Sara Mole". ucl.ac.uk. Retrieved 2019-07-26.
  6. ^ UCL (2018-06-01). "dr-sara-mole". UCL Great Ormond Street Institute of Child Health. Retrieved 2019-07-26.
  7. ^ Mole, Sara E. (1999). "Batten's disease: eight genes and still counting?". The Lancet. 354 (9177): 443–445. doi:10.1016/S0140-6736(99)00173-7. ISSN 0140-6736. PMID 10465165. S2CID 27080668. Closed access icon
  8. ^ "Batten disease Resource". ucl.ac.uk. Retrieved 2019-07-26.
  9. ^ a b "Uncovering the genetics of Batten disease: a Rare Disease Day interview with Sara Mole". Neuro Central. 2018-02-26. Retrieved 2019-07-26.
  10. ^ "King's College London - Lab news". kcl.ac.uk. Retrieved 2019-07-26.
  11. ^ "UCL". batcure.eu. Retrieved 2019-07-26.
  12. ^ Mole, Sara (2017). "Coordinating a cure". Ingenta Connect. Retrieved 2019-07-26.
  13. ^ Sparks Charity (2015-02-25), Dr Sara Mole's research into Batten disease, retrieved 2019-07-26
  14. ^ R&D Projects Leitat (2019-05-27), Developing new therapies for Batten Disease, retrieved 2019-07-26
  15. ^ "Juvenile CLN3 Disease". rarediseases.org. National Organization for Rare Disorders. Retrieved 2019-07-26.
  16. ^ Beesley, Clare; Guerreiro, Rita J.; Bras, Jose T.; Williams, Ruth E.; Taratuto, Ana Lia; Eltze, Christin; Mole, Sara E. (2016). "CLN8 disease caused by large genomic deletions". Molecular Genetics & Genomic Medicine. 5 (1): 85–91. doi:10.1002/mgg3.263. ISSN 2324-9269. PMC 5241206. PMID 28116333.
  17. ^ Tel: +4420 7679 2000, University College London-Gower Street- London- WC1E 6BT (24 August 2016). "Provost's Awards for Public Engagement". ucl.ac.uk. Retrieved 2019-07-26.{{cite web}}: CS1 maint: numeric names: authors list (link)
  18. ^ "No more steps. It's time for a leap on gender equality | Wonkhe | Comment". Wonkhe. Retrieved 2019-07-26.
  19. ^ UCL (2016-10-06). "UCL achieves first Gold Athena SWAN award for excellence in gender equality". UCL News. Retrieved 2019-07-26.
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