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Professor Eileen Treacy

Clinical Professor (Clinical Medicine)

 eptreacy@tcd.ie

 


Biography

Prof. Eileen Treacy is currently the HSE Clinical Lead for the Irish National Rare Diseases Office. Currently Clinical Professor of Medicine of Rare Disorders, Trinity College Dublin, previously Clinical Professor of Inborn Errors of Metabolism (Paediatrics) at Trinity College Dublin (2006-2023). Appointed as Clinical Professor at University College, Dublin in 2014 and Full Clinical Professor in 2016. Adult Metabolic Consultant at The National Centre for Inherited Metabolic Disorders-Adult Services, Mater Misericordiae University Hospital (January 2020 -January 2023, previously joint appointment as Metabolic Consultant to Childrens University Hospital, Temple at and Mater Misericordiae University Hospital, Dublin, 2001 to 2020. Registered in Clinical Genetics and Paediatrics on the Irish Medical Council Specialist Registry. Graduated in medicine from Trinity College, Dublin. Trained in Paediatrics and then Clinical and Biochemical Genetics (FCCMG programme)at McGill University, Montreal, Canada, and then obtained a two year Canadian Samuel McLoughlin Travelling Fellowship scholarship with further training in Biochemical Genetics at the Murdoch Institute, Royal Childrens' Hospital, Melbourne, Australia, and Necker Enfants Malades Hospital, Paris. Appointed, first as Assistant Professor and then promoted to Associate Professor in Paediatrics and Human Genetics at Montreal Childrens Hospital, McGill University, Montreal, Canada (1994 to 2001) and was Director of the Charles Scriver Biochemical Genetics Unit at Montreal Childrens Hospital/McGill University from 1995 to 2001. Specific research interests are in the diagnosis and treatment of rare and genetic diseases and metabolic diseases. Currently Co-Lead of the European Galactosaemia Clinical and Research Network. Principal Investigator (HSE) for EU4Health JARDIN ERN Integration Grant and Co-Lead for Work Package 6, February 2024 to present. Orphanet national validator and country Principal Investigator for Pillar II European Joint Research Programme in Rare Diseases (EJPRD). National European Joint Research Programme in Rare Diseases General Assembly national representative. Irish Principal Investigator for EC EU4Health OD4RD2 'Orphacode" direct grant (since August 2023). National (HSE) representative to EC European Reference Networks Board of Member States.

Research Projects

 European Brain Council Research Project: The value of treatment for brain disorders in Europe- Phenylketonuria pathway.

Representations

Details Date
National Clinical Lead for Rare Diseases December 2013 to December 2019
Director, National Rare Diseases Office 2015 to present
Member State representative to EC European Reference Networks Board of Member States 2015 to present
Irish representative to European Joint Programme on Rare Diseases General Assembly August 2019 to present
" `Orphanet" National Coordinator 2015
Panis B, Vos N et al including EP Treacy, Brain function in classic galactosemia, a galactosemia network (GalNet) members review, Frontiers in Genetics, 15, (2024), 2024, Notes: [doi: 10.3389/fgene.2024.1355962. eCollection 2024.], Journal Article, PUBLISHED
Derks B, Rivera-Cruz G, Hagen-Lillevik S, E, Vos N, Demirbas D, Lai K, Treacy EP, Levy HL Wilkins-Haug LE, Rubio-Gozalbo ME, Berry GT, The hypergonadotropic hypogonadism conundrum of classic galactosemia., Human Reproduction Update, 29, ((2)), 2023, p246 - 258, Journal Article, PUBLISHED
Loai A Shakerdi, Barbara Gillman, Emma Corcoran, Jenny McNulty, Eileen P Treacy. Pregnancy in Inherited Metabolic Disorders, Invited review Management of pregnancy in patients with Classical Organic Acidurias in Advances in Understanding the Impact of Pregnancy in Inherited Metabolic Disorders , `Metabolites 2023, 13(4), 518 https://doi.org/10.3390/metabo13040518 , (13) , (4), 2023, p518-, Notes: [https://doi.org/10.3390/metabo13040518], Journal Article, PUBLISHED
Ward AJ, Murphy D, Marron R, McGrath V, Bolz-Johnson M, Cullen W, Daly A, Hardiman O, Lawlor A, Lynch SA, MacLachlan M, McBrien J, Ni Bhriain S, O'Byrne JJ, O'Connell SM, Turner J, Treacy EP. , Designing rare disease care pathways in the Republic of Ireland: a co-operative model., Orphanet Journal of Rare Diseases , 11;17(1):1, 2022, Notes: [doi: 10.1186/s13023-022-02309-6], Journal Article, PUBLISHED
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 , European Journal of Human Genetics, July 2022, 2022, Notes: [https://www.nature.com/articles/s41431-022-01144-4], Journal Article, PUBLISHED
Donlon, Eoghan, McGettigan, Jamie, Gaffney, Christine, Ahmad, Marzuki Wan, Boers, Peter, Treacy, Eileen, Chaila, Elijah, Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome, Practical Neurology, 2022, ppractneurol-2021-003196 , Journal Article, PUBLISHED  DOI
Shakerdi LA, Wallace L, Smyth G, Madden N, Clark A, Hendroff U, McGovern M, Connellan S, Gillman B, Treacy EP., Determination of the lactose and galactose content of common foods: Relevance to galactosemia., Food science & nutrition, 10, (11), 2022, p3789-3800 , Journal Article, PUBLISHED  DOI
Shakerdi LA, McNulty J, Gillman B, McCarthy CM, Ivory J, Sheerin A, O'Byrne JJ, Donnelly JC, Treacy EP., Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency., JIMD reports, 63, (4), 2022, p265-270 , Journal Article, PUBLISHED  DOI
Healy L, O'Shea M, McNulty J, King G, Twomey E, Treacy E, Crushell E, Hughes J, Knerr I, Monavari AA., Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients., JIMD reports, 63, (4), 2022, p379-387 , Journal Article, PUBLISHED  DOI
Eileen P. Treacy, Sebastian Vencken, Annet M. Bosch, Matthias Gautschi, Estela Rubio"Gozalbo, Charlotte Dawson, Darragh Nerney, Hugh Owen Colhoun, Loai Shakerdi, Gregory M. Pastores, Roisin O'Flaherty, Radka Saldova, Abnormal N "glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake, JIMD Reports, 2021, Journal Article, PUBLISHED  DOI
  

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Eileen Treacy, Invited speaker: Presentation of Member State survey and 'Irish' experience. , Workshop on ERN Training and Education., European Commission, DG Sante, Brussels, Belgium, February 17, 2019, DG Sante, European Commission, Invited Talk, PUBLISHED
Treacy EP, National Model of Care for Rare Diseases Ireland, Lenus, 2019, Report, PUBLISHED
Department of Health, National Plan for Rare Diseases 2014-2018, Dublin, 2014, Report, PUBLISHED

  

Research Interests

Description Of Research Interests

Epidemiology of Rare Diseases Treatment of Genetic Diseases Inborn Errors of Metabolism Galactosaemia, pathophysiology and novel treatment approaches. Co-Lead of the International GalNet consortium. Currently collaborating with European Galactosaemia colleagues in a number of Galactosaemia research projects.