Researchers at UCD


Eileen Treacy

Full Clinical Professor

School of Medicine



Prof Eileen Treacy is a Consultant Metabolic Physician at Childrens University Hospital and the Mater Misericordiae University Hospital (since 2001), and is currently the National Clinical Lead for the HSE/RCPI Rare Diseases Clinical Programme (since December 2013).

After training in Paediatrics and Clinical Genetics in Canada, she subsequently trained in Biochemical Genetics in Paris and Melbourne (Australia) and was appointed first as Assistant Professor in Paediatrics and Medical Genetics (1994-1998) at Montreal Childrens Hospital/McGill University and Director of the McGill Charles Scriver Biochemical Genetics Unit (1996-2001), and then Associate Professor in Paediatrics and Medical Genetics at McGill University (1999- 2001).


Appointed as Clinical Professor of Inborn Errors of Metabolism (Paediatrics) at University of Dublin (TCD) since 2006.

Current trainer for RCPI Clinical Biochemical Genetics Training Programme at Mater Misericordiae University Hospital and Paediatrics Trainer. Registered as a specialist in Paediatrics and Clinical Genetics (Medicine).


Specific research interests in Rare Diseases, Inherited Metabolic Disorders and the treatment of Genetic Diseases.

Principal Investigator for Galactosaemia HRB-MRCG and HRB-HRA grants.

Co-Lead for European Galactosaemia Network (GalNet).

Member of UCD Academic Centre on Rare Diseases.


Currently the country coordinator (HSE) for the EC 2015-2018 Rare Diseases Joint Action Grant and National Validator for the Orphanet database/Lead for National Rare Diseases Office, (launched in June 2015). The National Rare Diseases Office coordinates the national Orphanet function, operates a helpline/information source for rare diseases for patients, families, researchers and the public and collaborates with rare disease research projects, dissemination of clinical practice guidelines and education in rare diseases: (website 




Association: Department of Health appointed National Irish Steering Group, HSE, Function/Role: Member and Clinical Representative
Association: EC European Reference Network Board, Function/Role: Board Member and Irish Member State Representative
Association: Irish Genetics and Rare Diseases Organisation, Function/Role: Member
Association: IPPOSI, Irish Platform for Industry and Science, Function/Role: Member
Association: British Society for Inherited Metabolic Disorders, Function/Role: Member
Association: Faculty of Paediatrics, RCPI, Function/Role: Member
Association: Irish Medical Organisation, Function/Role: Member
Association: Society for the Study of Inborn Errors of Metabolism, Function/Role: Member
Association: Irish Society of Human Geneticists, Function/Role: Member
Association: Society of Inherited Metabolic Diseases (SIMD North American Group), Function/Role: Member
Association: Canadian College of Medical Geneticists, Function/Role: Fellow
Association: Royal College of Physicians of Canada, Function/Role: Fellow

Conference Contributions

Treacy, EP (2015) Developing a model of care for rare diseases in Ireland. [Invited Lecture], Muscular Dystrophy Ireland, Cross border annual event, Belfast , 16-MAY-15 - 16-MAY-15.
Treacy, EP (2015) The emerging role of European reference networks. [Invited Lecture], European Galactosaemia Network Annual Meeting at SSIEM, Lyon , 03-SEP-15 - 03-SEP-15.
Treacy, EP (2015) The National Rare Diseases Plan. [Invited Lecture], Join our boys, Duchenne Muscular Dystrophy Conference, Dublin , 24-JUN-15 - 24-JUN-15.
Treacy, EP (2015) Galactosaemia, the unfolding story. [Invited Lecture], British Inherited Metabolic Diseases Group, Belfast , 19-JUN-15 - 19-JUN-15.
Treacy, EP (2015) Centres of expertise and European Reference Networks. [Invited Lecture], Europlan II, National Rare Diseases meeting, Round table discussion, Dublin , 12-SEP-15 - 12-SEP-15.
Treacy, EP (2015) Developing a model of care for rare diseases, the role of the rare diseases office. [Invited Lecture], Mind the Gap Endocrinology Meeting, Dublin , 24-APR-15 - 24-APR-15.
Treacy, EP (2015) Galactosaemia. [Invited Lecture], Metabolic study day, Dublin , 22-APR-15 - 22-APR-15.
Treacy, EP (2015) Access to rare drugs. [Roundtable Participant], IPPOSI Round Table discussion, Dublin , 24-FEB-15 - 24-FEB-15.


Committee : National Genetic and Genomic Medicine Network Strategy Group

Journals Edited

Journal Of Inherited Metabolic Disease: Reviewer.
Molecular Genetics And Metabolism: Reviewer.

Other Activities

Recent Research Grants held as PI:


January 2013- July 2016.  Principal Investigator. MRCG-HRB grant: Galactosaemia, a modifiable multi-system glycosylation disorder  179,000euro. (Co-applicants, Peter Doran, Pauline Rudd and Ina Knerr).

December 2014-December 2017. Principal Investigator: HRB/HRA POR award: Galactosaemia, translating novel monitoring approaches into improved clinical practice. 286,546euro


June 2015-2018. Country Co-Ordinator and Lead Partner for EC 3rd Public Health Programme, Joint Action in Rare Diseases.  161,000euro



Book Chapters

Treacy, EP (2008) 'Trimethylaminuria and deficiency of flavin-containing monooxygenase' In: Valle, D; Beaudet, AL; Vogelstein, B; Kinzler, KW; Antonarakis, SE; Ballabio, A; Gibson, KM; Mitchell, G (eds). The Online Metabolic and Molecular Bases of Inherited Disease. New York: McGraw Hill. [Details]
Treacy, EP; Lambert, DM (2003) 'Trimethylaminuria' In: National Organization for Rare Disorders (eds). The Nord Guide to Rare Disorders. Philadelphia: Lippincott, Williams and Wilkins. [Details]
Treacy, EP; Valle, D; Scriver, CR (2001) 'The Treatment of Genetic Disease' In: Scriver, CR; Beaudet, A; Valle, D; Vogelstein, B; Childs, B (eds). The Metabolic and Molecular Basis of Inherited Disease. New York: McGraw Hill. , pp.175-193 [Details]

Peer Reviewed Journals

Coman, D. J.,Murray, D. W.,Byrne, J. C.,Rudd, P. M.,Bagaglia, P. M.,Doran, P. D.,Treacy, E. P.; 'Galactosemia, a single gene disorder with epigenetic consequences'. Pediatr Res, 67 (33):286-92286. Available Online [Details]
Akerman BR, Lemass H;Chow LM;Lambert DM;Greenberg C;Bibeau C;Mamer OA;Treacy EP (2099) 'Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort'. Molecular Genetics and Metabolism, 68 (1):24-31. [DOI] [Details]
Mamer OA, Choini¿¿re L;Treacy EP (2099) 'Measurement of trimethylamine and trimethylamine N-oxide independently in urine by fast atom bombardment mass spectrometry'. Analytical Biochemistry, 276 (2):144-149. [DOI] [Details]
Treacy EP, Akerman BR;Chow LM;Youil R;Bibeau C;Lin J;Bruce AG;Knight M;Danks DM;Cashman JR;Forrest SM (2098) 'Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication'. Human Molecular Genetics, 7 (5):839-845. [Details]
Treacy EP, Delente JJ;Elkas G;Carter K;Lambert M;Waters PJ;Scriver CR (2097) 'Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study'. Pediatric Research, 42 (4):430-435. [DOI] [Details]
Treacy E, Byck S;Clow C;Scriver CR (2094) ''Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province'. European journal of human genetics : EJHG, 1 (3):220-228. [Details]
Maratha A, Stockmann H;Coss KP;Rubio-Gozalbo ME;Knerr I;Fitzgibbon M;McVeigh TP;Foley P;Moss C;Colhoun HO;van Erven B;Stephens K;Doran P;Rudd P;Treacy E (2016) 'Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis'. European journal of human genetics : EJHG, . [DOI] [Details]
Casey, J.P. and Slattery, S. and Cotter, M. and Monavari, A.A. and Knerr, I. and Hughes, J. and Treacy, E.P. and Devaney, D. and McDermott, M. and Laffan, E. and Wong, D. and Lynch, S.A. and Bourke, B. and Crushell, E. (2015) 'Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS'. Journal of Inherited Metabolic Disease, . Available Online [DOI] [Details]
Stockmann H, Coss KP;Rubio-Gozalbo ME;Knerr I;Fitzgibbon M;Maratha A;Wilson J;Rudd P;Treacy EP (2015) 'IgG N-Glycosylation Galactose Incorporation Ratios for the Monitoring of Classical Galactosaemia'. JIMD reports, . [DOI] [Details]
Shephard EA, Treacy EP;Phillips IR (2015) 'Clinical utility gene card for: Trimethylaminuria - update 2014'. European Journal of Human Genetics, 23 (9). [DOI] [Details]
Knerr I, Coss KP;Kratzsch J;Crushell E;Clark A;Doran P;Shin Y;St¿¿ckmann H;Rudd PM;Treacy E (2015) 'Effects of temporary low-dose galactose supplements in children aged 5-12 y with classical galactosemia: a pilot study'. Pediatric Research, 78 (3):272-279. [DOI] [Details]
O'Byrne JJ, Lynch SA;Treacy EP;King MD;Betts DR;Mayne PD;Sharif F (2015) 'Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations'. Irish Journal of Medical Science, . [DOI] [Details]
Casey, J; McGettigan, P; Brosnahan, D; Curtis, E; Treacy, E; Ennis, S; Lynch, SA. (2014) 'Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria'. European Journal of Medical Genetics, 57 (2-3):55-59. Available Online [DOI] Link to full text [Details]
Coss KP, Treacy EP;Cotter EJ;Knerr I;Murray DW;Shin YS;Doran PP (2014) 'Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?'. Molecular Genetics and Metabolism, 113 (3):177-187. [DOI] [Details]
Coss KP, Hawkes CP;Adamczyk B;St¿¿ckmann H;Crushell E;Saldova R;Knerr I;Rubio-Gozalbo ME;Monavari AA;Rudd PM;Treacy EP (2014) 'N-glycan abnormalities in children with galactosemia'. Journal of Proteome Research, 13 (2):385-394. [DOI] [Details]
Crushell E, Treacy EP;Dawe J;Durkie M;Beauchamp NJ (2013) 'Glycogen storage disease type III in the Irish population'. Journal of Inherited Metabolic Disease, 33 Suppl 3 :1-8. [DOI] [Details]
Morrissey L, Tiernan CA;Lambert D;O'Reilly E;Treacy EP (2013) 'Hereditary metabolic diseases (HMDs) in adult practice in Ireland: a preliminary assessment'. Irish Journal of Medical Science, 182 (4):565-571. [DOI] [Details]
Coss KP, Doran PP;Owoeye C;Codd MB;Hamid N;Mayne PD;Crushell E;Knerr I;Monavari AA;Treacy EP (2013) 'Classical Galactosaemia in Ireland: incidence, complications and outcomes of treatment'. Journal of Inherited Metabolic Disease, 36 (1):21-27. [DOI] [Details]
Knerr I, Coss KP;Doran PP;Hughes J;Wareham N;Burling K;Treacy EP (2013) 'Leptin levels in children and adults with classic galactosaemia'. JIMD reports, 9 :125-131. [DOI] [Details]
Coss KP, Byrne JC;Coman DJ;Adamczyk B;Abrahams JL;Saldova R;Brown AY;Walsh O;Hendroff U;Carolan C;Rudd PM;Treacy EP (2012) 'IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia'. Molecular Genetics and Metabolism, 105 (2):212-220. [DOI] [Details]
Harty S, King MD;McCoy B;Costigan D;Treacy EP (2011) 'Sensory-motor polyneuropathy occurring in variant maple syrup urine disease'. Journal of Inherited Metabolic Disease, 31 Suppl 2 :1-11. [DOI] [Details]
Moran MM, Allen NM;Treacy EP;King MD (2011) 'Stiff neonate with mitochondrial DNA depletion and secondary neurotransmitter defects'. Pediatric Neurology, 45 (6):403-405. [DOI] [Details]
Varghese M, Cafferkey M;O'Regan M;Monavari AA;Treacy EP (2010) 'Should children with inherited metabolic disorders receive varicella vaccination?'. Archives of Disease in Childhood, 96 (1):99-100. [DOI] [Details]
Coman DJ, Murray DW;Byrne JC;Rudd PM;Bagaglia PM;Doran PD;Treacy EP (2010) 'Galactosemia, a single gene disorder with epigenetic consequences'. Pediatric Research, 67 (3):286-292. [DOI] [Details]
Murphy, A. M.,Lambert, D.,Treacy, E. P.,O'Meara, A.,Lynch, S. A.; (2009) 'Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic'. Arch Dis Child, 94 (1):52-4. Available Online [Details]
Crushell E, Chukwu J;Mayne P;Blatny J;Treacy EP (2009) 'Negative screening tests in classical galactosaemia caused by S135L homozygosity'. Journal of Inherited Metabolic Disease, 32 (3):412-415. [DOI] [Details]
Hughes J, Ryan S;Lambert D;Geoghegan O;Clark A;Rogers Y;Hendroff U;Monavari A;Twomey E;Treacy EP (2009) 'Outcomes of siblings with classical galactosemia'. Pediatrics, 154 (5):721-726. [DOI] [Details]
Crushell EB;Harty SB;Ryan SP;Treacy EP, Low E (2008) 'Reversible multiorgan system involvement in a neonate with complex IV deficiency'. Pediatric Neurology, 39 (5):368-370. [DOI] [Details]
Lee P, Treacy EP;Crombez E;Wasserstein M;Waber L;Wolff J;Wendel U;Dorenbaum A;Bebchuk J;Christ-Schmidt H;Seashore M;Giovannini M;Burton BK;Morris AA; (2008) 'Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria'. American journal of medical genetics. Part A, 146A (22):2851-2859. [DOI] [Details]
Hayes B, Lynch B;O'Keefe M;Monavari AA;Treacy EP (2007) 'Long chain fatty acid oxidation defects in children: importance of detection and treatment options'. Irish Journal of Medical Science, 176 (3):189-192. [DOI] [Details]
Ryan E, King MD;Rustin P;Mayne PD;Brown GK;Monavari AA;Walsh R;Treacy EP (2006) 'Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence'. Irish Medical Journal, 99 (9):262-264. [Details]
Dolan, C., Shields, D. C., Stanton, A., O'Brien, E., Lambert, D. M., O'Brien, J. K., Treacy, E. P. (2005) 'Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians'. BMC Med Genet, 6 :41. Available Online [Details]
Rohininath T, Costello DJ;Lynch T;Monavari A;Tuchman M;Treacy EP (2004) 'Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies'. Journal of Inherited Metabolic Disease, 27 (2):285-288. [Details]
Kurian MA, O'Mahoney ES;Rustin P;Brown G;Treacy EP;King MD (2004) 'Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency'. European Journal of Paediatric Neurology, 8 (1):55-59. [DOI] [Details]
Treacy EP, Lee-Chong A;Roche G;Lynch B;Ryan S;Goodman S (2003) 'Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype'. Journal of Inherited Metabolic Disease, 26 (1):72-74. [Details]
Tighe O, Dunican D;O'Neill C;Bertorelle G;Beattie D;Graham C;Zschocke J;Cali F;Romano V;Hrabincova E;Kozak L;Nechyporenko M;Livshits L;Guldberg P;Jurkowska M;Zekanowski C;Perez B;Desviat LR;Ugarte M;Kucinskas V;Knappskog P;Treacy E;Naughten E;Tyfield L;Byck S;Scriver CR;Mayne PD;Croke DT (2003) 'Genetic diversity within the R408W phenylketonuria mutation lineages in Europe'. Human Mutation, 21 (4):387-393. [DOI] [Details]
Scriver CR, Treacy EP (2000) 'Is there treatment for genetic disease?'. Molecular Genetics and Metabolism, 68 (2):93-102. [DOI] [Details]
Cashman JR, Akerman BR;Forrest SM;Treacy EP (2000) 'Population-specific polymorphisms of the human FMO3 gene: significance for detoxication'. Drug metabolism and disposition: the biological fate of chemicals, 28 (2):169-173. [Details]

Published Reports

Treacy, EP; et al (2014) National Rare Diseases Plan 2014-2018. Department of Health, Dublin. [Details]


Low, E,Mitruskova, B,Riordan, M,Hensey, O,Green, A,Monavari, A,Treacy, E,Murphy, AM (2010) AN UNUSUAL CASE OF RENAL STONES, FAILURE TO THRIVE AND HYPOTONIA IN A MALE INFANT. Abstract [Details]


Research Interests

My specific research interests are in the diagnosis and treatment of genetic/rare diseases.


Currently Principal Investigator for HRB-HRA POR grant: Galactosaemia, translating novel monitoring approaches into clinical practice, (Co-Investigator Dr Peter Doran). This study aims to further develop the measurement of the blood immunoglobulin glycoprotein, IgG as an improved clinical test for monitoring the galactose control in patients in parallel with the routine Galactose-1-phosphate blood test and dietary analysis; (2) to test in patient samples the abnormal functioning of a number of genes which we have identified which may be linked to the complications of cognitive impairment and fertility impairment in females; (3) collaborate with our European Galactosaemia research colleagues (Galactosaemia Network, EGN), to enter our Irish adult Galactosaemia patient data into the now developed European GalNet Registry.


Co-Lead of the Galactosaemia European Clinical/Research Network (GalNet), which involves 17 EC Member States.

Collaborating with the Dutch groups of Dr Annet Bosch and Dr. Estela Rubio-Gozalbo and the Swiss (Bern) Group, (Dr. Matthias Gautschi) for a number of studies in Galactosaemia.


National Lead for EC Joint Action in Rare Diseases, development of national Orphanet function (WP4) and collaboration with coding work package and epidemiological research in Rare Diseases.  


UCD Medicine Research Individual Investigators


Recent Postgraduates

Dr. Ashwini Maratha (PhD) November 2014-July 2016

(Galactosaemia project).


Teaching Philosophy

Developed RCPI Clinical Genetics Training Curriculum in 2015 (with Dr SallyAnn Lynch) Organised RCPI Study Day in Rare Diseases (April 2016) and delivered introductary lecture, (streamed to RCPI satellite sites).

Innovation & Leadership

Irish Member State Representative to EC European Reference Networks (ERN) Board of Directors


Internal Collaborators


In addition to my own PI grants, I collaborate with Dr. SallyAnn Lynch and Dr. Jill Casey (Ireland Genome Project), for the phenotyping of Irish individuals with rare disease genetic variants.


External Collaborators


Collaboration with Dr. Annet Bosch, Academic Medical Centre, Amsterdam for Studies in Galactosaemia (PhD Studies of Lindsey Welling), and Dr. Estela Rubio-Gozalbo (PhD studies of Britt Van Erven) and also with Dr Matthias Gautschi, Bern, Switzerland for Genotype-Phenotype studies in Galactosaemia