Biography
Prof. Eileen Treacy is 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). Full Clinical Professor at University College, Dublin since 2016. HSE Clinical Lead for the Irish National Rare Diseases Office (2021-October 2024). Clinical Lead for National Rare Diseases Clinical Programme (2014-2021). 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 St. Dublin, 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, (FRCPC Canada), and then Clinical and Biochemical Genetics (FCCMG programme) at McGill University, Montreal, Canada. Subsequently was awarded 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). 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.
Principal Investigator (HSE) for EU4Health JARDIN ERN Integration Grant and Co-Lead for Work Package 6, January 2024 to present. Member of the JARDIN Steering group since 2023. Orphanet national validator and subsequently country Principal Investigator for Pillar II European Joint Research Programme in Rare Diseases (EJPRD) from 2014 to October 2024. Irish Principal Investigator for EC EU4Health OD4RD2 'Orphacode' direct grant (August 2023- October 2024). Member of Steering Group for International Galactosaemia (GALNET) Consortium.
Publications and Further Research Outputs
Peer-Reviewed Publications
Journal of Inborn Errors of Metabolism and Screening, 12, e2023-0016, (2024), Karolina Stepien, Max Treacy, Roulla Katiri, Eileen P. Treacy, Gregory Pastores, Alison Sheerin, Donal Brosnahan, Ellen Crushell, James J. O"Byrne
Panis B, Vos N et al including EP Treacy, Brain function in classic galactosemia, a galactosemia network (GalNet) members review, Front Genet, 15, (2024), 2024, p13-
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
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-
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
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
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
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
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
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
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, 61, 2021, p76 - 88
Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Berry GT, Galactokinase deficiency: lessons from the GalNet registry., Genetics in medicine : official journal of the American College of Medical Genetics, 2020
Welsink-Karssies, M M, Ferdinandusse,S, Geurtsen Gj, Hollak C, Huidekoper H, Janssen MCH, Gangendonk J, van der Lee J, O'Flaherty R, Oostrom K, Roosendaal SD, Rubio-Gozalbo M, Saldova R, Treacy EP et al., Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers, Brain Communications , 2020
O'Reilly D, Crushell E, Hughes J, Ryan S, Rogers Y, Borovickova I, Mayne P, Riordan M, Awan A, Carson K, Hunter K, Lynch B, Shahwan A, Rüfenacht V, Knerr I, Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of Ireland., Journal of inherited metabolic disease, 2020
Suja Somanadhan, Emma Nicholson, Emma Dorris, Aoife Brinkley, Avril Kennan, Eileen Treacy, Awan Atif, Sean Ennis, Vicky McGrath, Derick Mitchell, Grace O"Sullivan, Julie Power, Anne Lawlor, Paul Harkin, Sally Ann Lynch, Philip Watt, Avril Daly, Susie Donnelly, Thilo Kroll, Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland, HRB Open Research, 3, 2020, p13
Emer Gunne, Cliona McGarvey, Karina Hamilton, Eileen Treacy, Deborah M. Lambert, Sally Ann Lynch, A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland, Orphanet Journal of Rare Diseases, 15, (1), 2020
Somanadhan S, Nicholson E, Dorris E, Brinkley A, Kennan A, Treacy E, Atif A, Ennis S, McGrath V, Mitchell D, O'Sullivan G, Power J, Lawlor A, Kroll T, Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases. , HRB open research, 2020
Roddy D, McCarthy P, Nerney D, Mulligan-Rabbitt J, Smith E, Treacy EP, Impact of trimethylaminuria on daily psychosocial functioning., JIMD reports, 2020
, 22nd Meeting of the Irish Society of Human Genetics: Friday 20th September 2019 Stranmillis University College, Belfast., The Ulster medical journal, 2020
Byrne N, Turner J, Marron R, Lambert DM, Murphy DN, O'Sullivan G, Mason M, Broderick F, Burke MC, Casey S, Doyle M, Gibney D, Mason F, Molony D, Ormond D, O' Sé C, O'Shea C, Treacy EP., The role of primary care in management of rare diseases in Ireland., Ir J Med Sci, 2020
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM., The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes., Molecular genetics and metabolism, 2020
Somanadhan S, Nicholson E, Dorris E, Brinkley A, Kennan A, Treacy E, Atif A, Ennis S, McGrath V, Mitchell D, O'Sullivan G, Power J, Lawlor A, Kroll T, Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify the top 15 research priorities for rare diseases. , HRB open research, 2020
Cosgrove D, Whitton L, Donohoe G, Morris D, Das S, Moran B, Smeets D, Kel A, George S, Van Brussel T, Peutman G, Klinger R, Fender B, Connor K, O"Connor D, 21st Meeting of the Irish Society of Human Genetics : Friday 21st September 2018 Croke Park, Dublin, The Ulster medical journal, 2019
Clark A, Merrigan C, Crushell E, Hughes J, Knerr I, Monavari AA, Treacy E, Coughlan A, Ten-year retrospective review (2003-2013) of 56 inpatient admissions to stabilize elevated phenylalanine levels., JIMD reports, 2019
Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S., Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency., Journal of Inherited metabolic disease, 42, (5), 2019, p809 - 817
Dr Suja Somanadhan, Thilo Kroll, Emma Doris, Emma Nicholson, Sally Ann Lynch, Eileen Treacy, Aoife Brinkley, Sean Ennis, Atif Awan, Avril Kennan, Vicky Mc Garth, Derick Mitchell, IDENTIFYING RARE DISEASE RESEARCH PRIORITIES THROUGH (RAINDROP) A RARE DISEASE RESEARCH PARTNERSHIP, Archives of Disease in Childhood, 104, 2019, pA324--A324
Stepien KM, Schmidt WM, Bittner RE, O'Toole O, McNamara B, Treacy EP., Long-term outcomes in a 25-year-old female affected with lipin-1 deficiency., JIMD reports, 46, (1), 2019, p4-10
Stepien KM, Geberhiwot T, Hendriksz CJ, Treacy EP., Challenges in diagnosing and managing adult patients with urea cycle disorders., Journal of inherited metabolic disease, 42, (6), 2019, p1136 - 1146
Anne Clark; Christine Merrrigan; Ellen Crushell; Joanne Hughes; Ina Knerr; Ardeshir Monavari; Eileen Treacy; Aoife Coughlan., 10 Year Retrospective Review (2003-2013) of 56 Inpatient Admissions to Stabilise Elevated Phenylalanine Levels, Journal Of Inherited Metabolic Diseases Reports, 2019
Stepien KM, Schmidt WM, Bittner R, Treacy EP, Peripheral neuropathy as a complication of rhabdomyolysis in a 25 year old female with Lipin-1 deficiency, Journal Of Inherited Metabolic Diseases Reports, 2019
Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT., The natural history of classic galactosemia: lessons from the GalNet registry., Orphanet journal of rare diseases, 14, (1), 2019, p86
Doyle S, O'Byrne JJ, Nesbitt M, Murphy DN, Abidin Z Byrne N, Pastores G, Kirk R, Treacy EP, The genetic and biochemical basis of Trimethylaminuria in an Irish cohort, Journal of Inherited Metabolic Diseases Reports, 47, (1), 2019, p35 - 40
Stefanski AL, Martinez N, Peterson LK, Callahan TJ, Treacy E, Luck M, Friend SF, Hermesch A, Maltepe E, Phang T, Dragone LL, Winn VD, Murine trophoblast-derived and pregnancy-associated exosome-enriched extracellular vesicle microRNAs: Implications for placenta driven effects on maternal physiology., PloS one, 2019
Abidin Z and Treacy EP, Insights into the Pathophysiology of Infertility in Females with Classical Galactosae,ia, International Journal of Molecular Science, 20, (20), 2019, pdoi. 10.3-
Colhoun HO, Treacy EP, MacMahon M, Rudd PM, Fitzgibbon M, O'Flaherty R, Stepien KM, Validation of an automated ultraperformance liquid chromatography IgG N-glycan analytical method applicable to classical galactosaemia., Annals of clinical biochemistry, 2018
S. Doyle, M O'Regan, C Stenson, J Bracken, U Hendroff, A Agasarova, Deverell D, Treacy EP. , Extended experience of lower dose Sapropterin in Irish adults with mild Phenylketonuria. , Journal of Inherited Metabolic Diseases Reports, 40, 2018, p71 - 76
van Weeghel M, Welling L, Treacy EP, Wanders RJA, Ferdinandusse F, Bosch AM., Profiling of intracellular metabolites produced from galactose and its potential for galactosaemia research, Orphanet Journal of Rare Diseases, 13, (1), 2018, p146-
Colhoun HO, Rubio-Gozalbo EM, Bosch Am, Knerr I, Dawson C, Brady J, Galligan M, Stepein K, O'Flaherty R, Moss C, Barker P, Fitzgibbon M, Doran PP, Fertility in classical galactosaemia, a study of N-Glycan, hormonal and inflammatory gene interactions, Orphanet Journal of Rare Diseases, 13, (1), 2018, p164-
Hugh Owen Colhoun, Eileen P Treacy, Marguerite MacMahon, Pauline M Rudd, Maria Fitzgibbon, Roisin O'Flaherty, Karolina M Stepien., Validation of an automated UPLC IgG N-glycan analytical method applicable to Classical Galactosaemia, Annals Express. Annals of Clinical Biochemistry, 55, (5), 2018, p593 - 603
Stepien K, Pastores GM, Hendroff U, McCormick C, Fitzsimons P, Khawaja N, Borovickova I, Treacy EP. , Two uneventful pregnancies in a woman with Glutaric Aciduria Type 1, Journal of Inherited Metabolic Diseases Reports, (41), 2018, p29 - 36
Hynds P, Coghlan D, Purcell C, Green A, Ward A, Lynch S, Hough O, Duff M, Cody N, Carroll C, Bradley L, Green A, Lynch S, Lynch S, Crushell E, McKenna D, 20th Meeting of the Irish Society of Human Genetics : Friday 15th September 2017 Croke Park, Dublin, The Ulster medical journal, 2018
Stepien KM, McCarthy P, Treacy EP, O'Byrne JJ, Pastores GM, Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyrl-CpA dehydrogenase deficiency, Molecular Genetics and Metabolism, 16, 2018, p31 - 35
Maratha A, Colhoun H, Knerr I, Coss KP, Doran P, Treacy EP ., Classical Galactosaemia and CDG, the N-Glycosylation Interface. a ReviewCongenital Disorders of Glycosylation, the N-Glycan interface., Journal of Inherited Metabolic Diseases Reports, 2017; 34:33-42, 2017
Maratha A, Colhoun HO, Knerr I, Coss KP, Doran P, Treacy EP., Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review., JIMD reports, 34, 2017, p33-42
Welling L, Waisbren SE, Antshel KM. Colhoun HO, Gautschi M, Grunewald S, Holman R, van der Lee JH, Treacy EP, Bosch AM., Systematic review and meta-analysis of intelligence quotient in early-treated individuals with Classical Galactosaemia., Journal of Inherited Metabolic Diseases Reports, 37, 2017, 115 - 123
Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT and Treacy EP. , The Galactosaemia network (GalNet), Journal of Inherited Metabolic Diseases , 40, (2), 2017, p169 - 170
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grunewald S, Gubbels C, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi P, Ounap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM. , International Clinical Guideline for the management of Classical Galactosaemia: diagnosis, treatment and follow-up. , Journal of Inherited Metabolic Diseases , 40, (2), 2017, p171 - 176
Rubio-Gozalbo ME, Bosch AM, Burlina A, Berry GT, Treacy EP, Steering Committee on behalf of all Galactosemia Network representatives., The galactosemia network (GalNet)., Journal of inherited metabolic disease, 40, (2), 2017, p169-170
Van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren S, Rubio-Gozalbo ME, Bosch AM., Bone health in classic galactosaemia: systematic review and meta-analysis., Journal of Inherited Metabolic Diseases Reports, (35:87-96. ), 2017
Coleman A, McKinley F, Gough A, Wheatley N, Xu H, McKnight A, Lambert D, Lynch S, Marron R, Gray D, Treacy E, Moore R, McConnell V, Kelly D, Das S, McKenna D, 19th Meeting of the Irish Society of Human Genetics, Friday 9th September 2016 : Belfast City Hospital, The Ulster medical journal, 2017
Togher KL, Treacy E, O'Keeffe GW, Kenny LC, Maternal distress in late pregnancy alters obstetric outcomes and the expression of genes important for placental glucocorticoid signalling., Psychiatry research, 2017
Hollak C, Biegstraaten m, Baumgartner M, Belmatoug N, Bembi B, Bosch A, Brouwers M, vom Dahl S, Dekker H, Engelen M, Groenendiijk M, Lachmann R, Langeveld M Linthorst G, Poll The B, Rubio-Gozalbo E, Speikerkotter U, Treacy Ep, Visser G, Wanders R, Zschocke J, Hangendijk R, Position statement on the role of healthcare professionals, patient organisations and industry in European Reference Networks., Orphanet Journal of Rare Diseases, 11, (1), 2016, p7 - 7
Maratha A, Stockmann H, Coss KP, Rubio-Gozalbo E, Knerr I, Fitzgibbon M, McVeigh T, Foley P, Moss C, Colhoun H, van ERven B, Stephens S, Doran P, Rudd P, Treacy EP, Classical Galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis, Eur J Human Genetics, 2016, pdoi: 10.1038/ejhg.2015.254
O'Byrne JJ, Lynch SA, Treacy EP, King MD, Betts DR, Mayne PD, Sharif F, Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations., Irish Journal of medical science, 185, (1), 2016, p241 - 248
Howell R, Hill B, Hoffman C, Treacy E, Mulcahey MK, Peripheral Nerve Blocks for Surgery About the Knee., JBJS reviews, 2016
, The emerging role of European reference networks, 2015
, 18th Meeting of the Irish Society of Human Genetics, Friday 4th September 2015: Dublin City University., 2015
, The National Rare Diseases Plan, 2015
Colhoun H, Maratha A, Kratzsch J, Treacy EP, Knerr I, The leptin system in patients with Classical Galactosaemia-Putative role and clinical consequences, Medical Research Archives, No.4, 2015
Gupta A, Kulkarni A, Ramanujam V, Zheng L, Treacy E, Improvement in chronic low back pain in an obese patient with topiramate use., Journal of pain & palliative care pharmacotherapy, 2015
, Developing a model of care for rare diseases, the role of the rare diseases office, 2015
, Galactosaemia, the unfolding story, 2015
, Developing a model of care for rare diseases in Ireland, 2015
Stockmann H, Coss KP, Rubio-Gozalbo E, Knerr I, Fitzgibbon M, Wilson JF, Maratha A, Rudd P, Treacy EP, IgG N-glycosylation galactose incorporation ratios for the monitoring of Classical Galactosaemia, JIMD Rep, Sep 30, 2015, pEpub ahead of print
Knerr I, Coss KP, Kratsch J, Clark A, Shin YS, Stockmann H, Rudd PM, Treacy EP, Effects of temporary low dose galactose supplements in children aged 5-12 with Classical Galactosaemia: a pilot study., Pediatric Research, 78, (3), 2015, p272 - 279
Casey JP, Slattery S, Cotter M, Monavari AA, Knerr I, Hughes J, Treacy EP, Devaney D, McDermott M, Laffan E, Wong D, Lynch SA, Bourke B, Crushell E, Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS., Journal of Inherited metabolic disease, 38, (6), 2015, p1085 - 1092
, Centres of expertise and European Reference Networks, 2015
Hugh Owen Colhoun, Ashwini Maratha, Juergen Kratzsch, Eileen Treacy, Ina Knerr, The Leptin System in Patients with Classical Galactosaemia - Putative Role and Clinical Consequences, Medical research archives, 2, (4), 2015
, National Rare Diseases Plan 2014-2018, 2014
Coss KP, Treacy EP, Cotter EJ, Knerr I, Murray DW, Shin YS, Doran PP, Systemic gene dysregulation in classical Galactosaemia: Is there a central mechanism?, Molecular genetics and metabolism, 113, (3), 2014, p177-87
Shephard EA, Treacy EP, Phillips IR, Clinical Utility Gene Card for Trimethylaminuria-update 2014, European Journal of Human Genetics , 2014
Coss KP, Hawkes CP, Adamczyk B, Stöckmann H, Crushell E, Saldova R, Knerr I, Rubio-Gozalbo ME, Monavari AA, Rudd PM, Treacy EP, N-glycan abnormalities in children with galactosemia., Journal of proteome research, 13, (2), 2014, p385-94
Eur J Hum Genet, Epub ahead of print, doi:10.1038/ejhg.226, (2014), G-J B van Ommen, [eds.]
Casey J, Atypical Alstrom syndrome with novel ALMS1 mutations precluded by current diagnostic criteria, Eur J Med Genet, 57, (2-3), 2014, p55 - 50
L Morrissey, C Tiernan, D Lambert, E O'Reilly, EP Treacy. , Hereditary Metabolic Diseases (HMDs) in adult practice in Ireland, a preliminary assessment. , Ir J Med Sci 2013, 8: 107, PMID 23526233, 2013
Peterson LK, Pennington LF, Shaw LA, Brown M, Treacy EC, Friend SF, Hatlevik Ø, Rubtsova K, Rubtsov AV, Dragone LL, SLAP deficiency decreases dsDNA autoantibody production., Clinical immunology (Orlando, Fla.), 2013
Knerr I, Coss KP, Doran PP, Hughes J, Wareham N, Burling K, Treacy EP., Leptin Levels in Children and Adults with Classic Galactosaemia, J. Inherit Metab Dis , 9, 2013, p125 - 131
Cohn GM, Morin I, Whiteman DA, Hunter Outcome Survey Investigators., Development of a mnemonic screening tool for identifying subjects with Hunter syndrome., European journal of pediatrics, 172, (7), 2013, p965-970
Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD, Leão Teles E, Valayannopoulos V, CSP Study Group., Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)., Journal of inherited metabolic disease, 36, (2), 2013, p373-384
Friend SF, Peterson LK, Treacy E, Stefanski AL, Sosinowski T, Pennock ND, Berger AJ, Winn VD, Dragone LL, The discovery of a reciprocal relationship between tyrosine-kinase signaling and cullin neddylation., PloS one, 2013
Coss KP, Doran PP, Owoeye C, Codd MB, Hamid N, Mayne PD, Crushell E, Knerr I, Monavari AA, Treacy EP. , Classical Galactosaemia in Ireland: Incidence, complications and outcomes of treatment. , J Inher. Metab. Dis. 2013, 36, (1), 2013, p21 - 27
van Erven B, Gubbels CS, van Golde RJ, Dunselman GA< DErhaag JG, de Wert G, Geraedts JP, Bosch Am, Treacy EP, Welt CK, Berry GT, Rubio-Gozalbo ME, Fertility preservation in female classic galactosemia patients, Orphanet Journal of Rare Diseases, 8, 2013, p107-
Coss KP, Doran PP, Byrne JC, Adamcyck B, Rudd PM, Treacy EP , Classical Galactosaemia- a modifiable Glycosylation Disorder? , Ulster Med J, Irish Society of Human Genetics annual meeting, Sept 3rd, 2012. , 81, (3), 2012, pp8
Shephard EA, Treacy EP, Phillips IR, Clinical utility gene card for: trimethylaminuria., European journal of human genetics : EJHG, 20, (3), 2012
Coss KP, Doran PP, Byrne JC, Adamczyk B, Rudd PM, Treacy EP., 'Classical Galactosaemia- a modifiable glycosylation defect'. , Molec. Genet. Metab , 105, (3), 2012, p290
de Ru, M; Teunissen, QJ; van der Lee, JH, ; Beck, M; Bodamer, OA; Clarke, LA; Hollak CE, Lin SP, Muñoz Rojas, MV; Pastores, GM; Raiman, JA; Scarpa, M; Treacy, EP, Tylki-Szymanska, A; Wraith, JE; Zeman, J; Wijburg, FA. , Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure. , Orphanet J Rare Diseases, 2012, 7, (22), 2012
Coss KP, Byrne JC, Coman DJ, Adamczyk B, Abrahams JL, Saldova R, Brown AY, Walsh O, Hendroff U, Carolan C, Rudd PM, Treacy EP, IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia., Molecular genetics and metabolism, 105, (2), 2012, p212-20
Casey J, McGettigan P, Alkazemi N, Maguire P, Kennedy B, Brosnahan D, Treacy E, Walsh K, Ennis S, Lynch S, J K, L B, T M, O S, DR B, Harper N, CBT M, Royal College of Surgeons in Ireland, The Ulster medical journal, 2012
J Casey, P McGettigan, A Alkazemie, P Maguire, B Kennedy, D Brosnahan, EP Treacy, K Walsh, SA Lynch. , Exome analysis and cardiomyopathy: The Lazarus story , Ulster Med J, Irish Society of Human Genetics annual meeting, Sept 3rd, 2012. , 81, (3), 2012
Brown RM, Treacy EP, Fernandez -Vizarra E, Poulton J, Brown GK. , Reversible mitochondrial liver disease with TRMU mutations, J Inherit Metab Dis , 34 (suppl 3), S166, 2011
Uusimaa J, Jungbluth H, Fratter C, Crisponi G, Feng L, Zeviani M, Hughes I, Treacy EP, Birks J, Brown GK, Sewry CA, McDermott M, Muntoni F, Poulton J, Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease., Journal of medical genetics, 48, (10), 2011, p660-8
Knerr I, Crushell E, Kozdoba O, Mayne PD, Deverell D, Monavari AA, Treacy EP. , Assessment of biochemical profiles during metabolic decompensation in 14 patients with Maple Syrup Urine Disease (MSUD). , J Inherit Metab Dis , 34 (suppl 3), S80, 2011
Burton BK, Whiteman DA, Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS)., Molecular genetics and metabolism, 103, (2), 2011, p113-20
O'Sullivan S, Treacy EP, Crushell E, Monavari A, Brinkley A, Grant T, Mayne PD. , Long term outcomes of patients with treated Homocystinuria (CBC deficiency) in Ireland (1971-2009). , J Inherit Metab Dis , (34 (suppl 3) S77 ), 2011
Moran MM, Allen NM, Treacy EP, King MD, "Stiff neonate" with mitochondrial DNA depletion and secondary neurotransmitter defects., Pediatric neurology, 45, (6), 2011, p403-5
O'Shea R, Murphy AM, Treacy E, Lynch SA, Thirlaway K, Lambert D, Communication of genetic information by other health professionals: the role of the genetic counsellor in specialist clinics., Journal of genetic counseling, 20, (2), 2011, p192-203
Hendroff U, Coss KP, Coman DJ, Brown A, Walsh O, Rudd PM, Treacy EP. , 'Effects of diet relaxation in Classical Galactososaemia'. , Metabolics Update. Nutricia, 'Best Practice', 25th SHS Dietary Management of Inherited Metabolic Disorders Conference, 7th-8th April, 2011. , Winter 2011 Edition, 2011
Varghese M, Cafferkey M, O'Regan M, Monavari A, Treacy EP, Is varicella vaccination required for children with Inherited Metabolic Disorders?, Archives of Disease in Childhood, 96, 2011, p99-100
Varghese M, Cafferkey M, O'Regan M, Monavari AA, Treacy EP., Should children with inherited metabolic disorders receive varicella vaccination?, Archives of disease in childhood, 96, (1), 2011, p99-100
Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R, Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey., Genetics in medicine : official journal of the American College of Medical Genetics, 12, (12), 2010, p816-22
Burton BK, Guffon N, Roberts J, van der Ploeg AT, Jones SA, Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey., Molecular genetics and metabolism, 101, (2-3), 2010, p123-9
Salter N, Quinn G, Treacy E, Cardiac arrest in infancy: don't forget glucose! , Emergency Medicine Jourmal, 27, 2010, p720 - 721
Ellen Crushell, Eileen P. Treacy, J. Dawe, M. Durkie and Nicholas J. Beauchamp, Glycogen storage disease type III: Genotype-phenotype correlations in the Irish population, Journal of Inherited Metabolic Disease, 33, 2010
, AN UNUSUAL CASE OF RENAL STONES, FAILURE TO THRIVE AND HYPOTONIA IN A MALE INFANT, Irish Journal of Medical Science, 179, 2010, p185--185
Coman DJ, Murray DW, Byrne JC, Rudd PM, Bagaglia PM, Doran PD, Treacy EP, Galactosemia, a single gene disorder with epigenetic consequences., Pediatric Research, 67, (3), 2010, p286-292
Crushell E, Treacy EP, Dawe J, Durkie M, Beauchamp NJ, Glycogen storage disease type III in the Irish population., Journal of inherited metabolic disease, 2010
Crushell E, Chuku J, Mayne PD, Blatny J, Treacy EP, Negative screening tests in classic Galactosaemia caused by S135L homozygozity, Journal of Inherited Metabolic Disease, 32, (3), 2009, p412-415
Hughes J, Ryan S, Lambert D, Geoghegan O, Clark A, Rogers Y, Hendroff U, Monavari A, Twomey E, Treacy EP, Outcomes of siblings with classical galactosemia., The Journal of Pediatrics, 154, (5), 2009, p721-726
, 11th Meeting of the Irish Society of Human Genetics, Friday 12th September 2008., 2009
Murphy AM, Lambert D, Treacy EP, O'Meara A, Lynch SA, Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic., Archives of Disease in Childhood, 94, (1), 2009, p52-54
Tuppen HA, Fattori F, Carrozzo R, Zeviani M, DiMauro S, Seneca S, Martindale JE, Olpin SE, Treacy EP, McFarland R, Santorelli FM, Taylor RW, Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations., Journal of Medical Genetics, 45, (1), 2008, p55-61
Low E, Crushell EB, Harty SB, Ryan SP, Treacy EP, Reversible multiorgan system involvement in a neonate with complex IV deficiency., Pediatric Neurology, 39, (5), 2008, p368-70
The treatment of Genetic Disese, Update of Chapter 5 in, editor(s)Scriver CR, Beaudet A, Valle D, Vogelstein B and Childs , The Metabolic and Molecular Bases of Inherited Disease, on line edition , McGraw Hill, New York,, McGraw Hill, 2008, ppOnline - Online, [Eileen P Treacy]
Harty S, King MD, McCoy B, Costigan D, Treacy EP, Sensory-motor polyneuropathy occurring in variant maple syrup urine disease., Journal of Inherited Metabolic Disease, 2008
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, Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria., American Journal of Medical Genetics. Part A, 146A, (22), 2008, p2851-9
Murphy A, Halling C, Lynch S, Monavari A, Harty S, Crushell E, Treacy E, Crawford H, McKee S, Chukwu J, Halling C, Taha A, Lynch S, Monavari A, Magee A, 10th Meeting of the Irish Society of Human Genetics, Monday 24th September 2007, The Ulster medical journal, 2008
Trimethylaminuria and deficiency of flavin-containing monooxygenase. Chapter 88.1 in, The Metabolic and Molecular Bases of Inherited Disease, on line edition , McGraw Hill, New York,, McGraw Hill, 2007, ppOnline - Online, [Eileen Treacy, First author]
Hayes B, Lynch B, O'Keefe M, Monavari AA, Treacy EP., Long chain fatty acid oxidation defects in children: importance of detection and treatment options., Ir J Med Sci, 176, (3), 2007, p189-192
Beauchamp NJ, Dalton A, Ramaswami U, Niinikoski H, Mention K, Kenny P, Kolho KL, Raiman J, Walter J, Treacy E, Tanner S, Sharrard M., Glycogen storage disease type IX: High variability in clinical phenotype., Molecular genetics and metabolism, 92, (1-2), 2007, p88-99
Ryan E, King MD, Rustin P, Mayne PD, Brown GK, Monavari AA, Walsh R, Treacy EP., Mitochondrial cytopathies, phenotypic heterogeneity and a high incidence., Irish medical journal, 99, (9), 2006, p262-264
Morris D, Murphy K, Kenny N, Williams N, McGhee K, Schwaiger S, Nangle J, Donohoe G, Clarke S, Owen M, O'Donovan M, Waddington J, Gill M, Corvin A, Green A, 8th Meeting of the Irish Society of Human Genetics, Monday 19th September 2005, The Ulster medical journal, 2006
Dolan C, Shields DC, Stanton A, O'Brien E, Lambert DM, O'Brien JK, Treacy EP., Polymorphisms of the Flavin containing monooxygenase 3 (FMO3) gene do not predispose to essential hypertension in Caucasians., BMC medical genetics, 6, 2005, p41
Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH< Tolmie JL, Stephenson JB, Coat's plus: a progressive familial syndrome, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument, Neuropediatrics, 35, (1), 2004, p10 - 19
Kurian MA, O'Mahoney ES, Rustin P, Brown G, Treacy EP, King MD, Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency, European Journal of Paediatric Neurology , 8, (1), 2004, p55 - 59
Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH, Tolmie JL, Stephenson JB, Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument., Neuropediatrics, 2004
Rohininath T, Costello DJ, Lynch T, Monavari A, Tuchman M, Treacy EP., Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies., Journal of inherited metabolic disease, 27, (2), 2004, p285-288
, Trimethylaminuria, 2003
Treacy EP, Lee-Chong A, Roche G, Lynch B, Ryan S, Goodman S., 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), 2003, p72-74
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., Genetic diversity within the R408W phenylketonuria mutation lineages in Europe., Human mutation, 21, (4), 2003, p387-393
The Treatment of Genetic Disease, Chapter 5 in, editor(s)Eds. Scriver CR, Beaudet A, Valle D, Vogelstein B and Childs B. , The Metabolic and Molecular Bases of Inherited Disease, 8th edition, 2001. , McGraw Hill, New York,, McGraw Hill, 2001, pp173 - 193, [Eileen P Treacy, Valle D, Scriver CR]
Forrest SM, Knight M, Akerman BR, Cashman JR, Treacy EP., A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria., Pharmacogenetics, 11, (2), 2001, p169-174
Westphal V, Peterson S, Patterson M, Tournay A, Blumenthal A, Treacy EP, Freeze HH., Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia., Genetics in medicine : official journal of the American College of Medical Genetics, 3, (6), 2001, p393-398
Bissonnette R, Treacy E, Rozen R, Boucher B, Cohn JS, Genest J., Fenofibrate raises plasma homocysteine levels in the fasted and fed states., Atherosclerosis, 155, (2), 2001, p455-462
Lambert DM, Mamer OA, Akerman BR, Choinière L, Gaudet D, Hamet P, Treacy EP., In vivo variability of TMA oxidation is partially mediated by polymorphisms of the FMO3 gene., Molecular genetics and metabolism, 73, (3), 2001, p224-229
Arbour LT, Silver K, Hechtman P, Treacy EP, Coulter-Mackie MB., Variable onset of metachromatic leukodystrophy in a Vietnamese family., Pediatric neurology, 23, (2), 2000, p173-176
Cashman JR, Akerman BR, Forrest SM, Treacy EP., Population-specific polymorphisms of the human FMO3 gene: significance for detoxication., Drug metabolism and disposition: the biological fate of chemicals, 28, (2), 2000, p169-173
Treacy EP, Lambert DM, Barnes R, Boriack RL, Vockley J, O'brien LK, Jones PM, Bennett MJ., Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study., The Journal of pediatrics, 137, (2), 2000, p257-259
Scriver CR, Treacy EP., Is there treatment for "genetic" disease?, Molecular genetics and metabolism, 68, (2), 1999, p93-102
Mamer OA, Choinière L, Treacy EP., Measurement of trimethylamine and trimethylamine N-oxide independently in urine by fast atom bombardment mass spectrometry., Analytical biochemistry, 276, (2), 1999, p144-149
Akerman BR, Lemass H, Chow LM, Lambert DM, Greenberg C, Bibeau C, Mamer OA, Treacy EP., Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort., Molecular genetics and metabolism, 68, (1), 1999, p24-31
Akerman BR, Forrest S, Chow L, Youil R, Knight M, Treacy EP, Two novel mutations of the FMO3 gene in a proband with trimethylaminuria., Human mutation, 1999
Sniderman LC, Lambert M, Giguère R, Auray-Blais C, Lemieux B, Laframboise R, Rosenblatt DS, Treacy EP, Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program., The Journal of pediatrics, 1999
Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, Laframboise R, Lambert M, Treacy E, Scriver CR, Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience., European journal of human genetics : EJHG, 1998
Treacy EP, Akerman BR, Chow LM, Youil R, Bibeau C, Lin J, Bruce AG, Knight M, Danks DM, Cashman JR, Forrest SM., Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication., Human molecular genetics, 7, (5), 1998, p839-845
Thompson GN, Hsu BY, Pitt JJ, Treacy E, Stanley CA., Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase., The New England journal of medicine, 337, (17), 1997, p1203-1207
Sasi K, Sanderson D, Eydoux P, Cartier L, Scriver CR, Treacy E., Prenatal diagnosis for inborn errors of metabolism and haemoglobinopathies: the Montreal Children's Hospital experience., Prenatal diagnosis, 17, (7), 1997, p681-685
Waters PI, Hewson AS, Scriver CR, Treacy EP, Martinez A, Knappskog PM, Parniak MA., Comparative analysis of phenylalanine hydroxylase A104D mutant, associated with variant phenylketonuria, and wild-type enzyme., Biochemical Society transactions, 25, (2), 1997, p362S
Cashman JR, Bi YA, Lin J, Youil R, Knight M, Forrest S, Treacy E., Human flavin-containing monooxygenase form 3: cDNA expression of the enzymes containing amino acid substitutions observed in individuals with trimethylaminuria., Chemical research in toxicology, 10, (8), 1997, p837-841
Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR., Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations., American Journal of HUman Genetics, 61, (6), 1997, p1309 - 1317
Treacy EP, Delente JJ, Elkas G, Carter K, Lambert M, Waters PJ, Scriver CR., Analysis of phenylalanine hydroxylase genotypes and hyperphenylalaninemia phenotypes using L-[1-13C]phenylalanine oxidation rates in vivo: a pilot study., Pediatric research, 42, (4), 1997, p430-435
Treacy E, Polychronakos C, Vekemans M, Eydoux P, Blaichman S, Scarpelli H, Ross M, Xu Y, Der Kaloustian VM., Translocation between chromosomes 6 and 15 (45,XX,t(6;15)(q25;q11.2)) with further evidence for lack of imprinting of the insulin-like growth factor II/mannose-6-phosphate receptor in humans., Journal of medical genetics, 33, (1), 1996, p42-46
Treacy E, Arbour L, Chessex P, Graham G, Kasprzak L, Casey K, Bell L, Mamer O, Scriver CR., Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate., The Journal of pediatrics, 129, (3), 1996, p445-448
Shevell MI, Colangelo P, Treacy E, Polomeno RC, Rosenblatt B., Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)., Pediatric neurology, 15, (4), 1996, p337-339
Treacy E, Pitt JJ, Seller K, Thompson GN, Ramus S, Cotton RG., In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings., Journal of inherited metabolic disease, 19, (5), 1996, p595-602
Eisensmith RC, Goltsov AA, O'Neill C, Tyfield LA, Schwartz EI, Kuzmin AI, Baranovskaya SS, Tsukerman GL, Treacy E, Scriver CR., Recurrence of the R408W mutation in the phenylalanine hydroxylase locus in Europeans., American journal of human genetics, 56, (1), 1995, p278-286
Treacy E, Johnson D, Pitt JJ, Danks DM., Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole., Journal of inherited metabolic disease, 18, (3), 1995, p306-312
Ramus SJ, Treacy EP, Cotton RG., Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes., American journal of human genetics, 56, (5), 1995, p1034-1041
Treacy E, Childs B, Scriver CR., Response to treatment in hereditary metabolic disease: 1993 survey and 10-year comparison., American journal of human genetics, 56, (2), 1995, p359-367
Treacy E, Danks DM., Ketotic hypoglycaemia presenting as a life-threatening situation in a child with amelia., European journal of pediatrics, 153, (1), 1994, p53
Treacy E, Phenylketonuria, a celtic condition revisited, Irish Medical Journal, 87, (4), 1994, p100 - 102
Eileen Treacy, PHENYLKETONURIA, A CELTIC CONDITION, REVISITED, Irish Medical Journal, 87, (4), 1994, p100--100
Treacy E, Pitt J, Eggington M, Hawkins R., Dicarboxylic aciduria, significance and prognostic indications., European journal of pediatrics, 153, (12), 1994, p918
Treacy E, Byck S, Clow C, Scriver CR., 'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province., European journal of human genetics : EJHG, 1, (3), 1993, p220-228
Treacy E, Clow C, Mamer OA, Scriver CR., Methylmalonic acidemia with a severe chemical but benign clinical phenotype., The Journal of pediatrics, 122, (3), 1993, p428-429
Treacy E, Clow CL, Reade TR, Chitayat D, Mamer OA, Scriver CR., Maple syrup urine disease: interrelations between branched-chain amino - oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelination., Journal of inherited metabolic disease, 15, (1), 1992, p121-135
Treacy EP, Duncan WJ, Tyrrell MJ, Lowry NJ., Neurological complications of balloon angioplasty in children., Pediatric cardiology, 12, (2), 1991, p98-101
M. Hennessy. , Acceptance trees. , Journal of the ACM, 32, (4), 1985, p896-928
Non-Peer-Reviewed Publications
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
Treacy EP, National Model of Care for Rare Diseases Ireland, Lenus, 2019
Department of Health, National Plan for Rare Diseases 2014-2018, Dublin, 2014
Research Expertise
Description
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.Projects
- Title
- European Brain Council Research Project: The value of treatment for brain disorders in Europe- Phenylketonuria pathway.
- Funding Agency
- EC-European Brain Council
- Date From
- Jan 1 2021 (for my participation)
- Date To
- June 30th 2021