Prof. Sally Ann Lynch MB BAO BCh LRCP & SI MRCPI MD FRCPI

http://www.ucd.ie/research/people/medicine/drsallylynch/

Sally.lynch@ucd.ie

Consultant Clinical Geneticist at CHI @ Temple Street and CHI@ Our Lady’s Children’s Hospital Crumlin.

Vice- Coordinator & co-ordinator elect of ERN ITHACA (European Reference Network) https://ern-ithaca.eu/

President elect European Society of Human Genetics

Professional bodies/committees

1. Chair Diagnostic scientific committee International Rare Disease Research consortium (IRDiRCs)

2. Member of Minority Advisory Board for the Genome of Europe project

Awards

Health Research Charities Ireland Inaugural Research Impact winner award Dec 2022

Irish Hospitals Best research paper of the year award Dec 2022

HSE Lenus Best open access paper Dec 2025

Medical training in Genetics in Ireland

The clinical Genetic training programme was set up by Prof Lynch in 2014 http://www.ucd.ie/medicine/rarediseases/understandinggeneticdisorders/

Prof Lynch established this microsite which gives information on common genetic disorders including 11 educational animation videos. Two videos have been translated into Spanish, French, Italian, Polish, Maltese & Portugese.

Publications h-index 71

Author >240 publications. Selected recent Publications (of relevance)

1. Lynch SA, Crushell E, Lambert D, B et al. A Catalogue of inherited Genetic disorders found amongst Irish Travellers. J Med Genet. 2018 Apr;55(4):233-239.

2. Gunne E, McGarvey C, Hamilton K, Treacy E, Lambert DM, Lynch SA. A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland. Orphanet J Rare Dis. 2020 Nov 4;15(1):311. PMID: 33148291

3. Gunne E, Lambert DM, Ward AJ, Murphy DN, Treacy EP, Lynch SA. An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature. Eur J Hum Genet. 2022 Jul 19. PMID: 35853949

4. An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population E B Forman , S A Lynch , I Knerr , A Monavari , J Hughes , R Boruah , A Green , E Crushell Eur J Pediatr. 2022 Nov 14. doi: 10.1007/s00431-022-04697-0.

5. Quinn S, Walsh N, Streata I, Ververi A, Kulshrestha S, Puri RD, Riza AL, Walsh A, Gorman K, Crushell E, Green A, Kenny J, Lynch SA. Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe. Eur J Med Genet. 2024 Dec 19;73:104989. doi: 10.1016/j.ejmg.2024.104989. PMID: 39709002.

6. Lambert DM, Stewart H, Bandiola M, Bertoli M, Butterly D, Kuismin O, Moilanen J, Rea G, Streata I, Griffin A, McGrath V, Behan D, Coen N, King S, Kilroe E, Ward AJ, Lynch SA. What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis. Eur J Hum Genet. 2025 Oct 27. doi: 10.1038/s41431-025-01961-3. PMID: 41145828.