Navigation

Researchers at UCD

researcher

Ellen Crushell

Consultant Metabolic Paediatrician, Clinical Associate Professor

School of Medicine
Our Lady's Children's Hospital
Crumlin
Dublin 12

Tel: 353 1 8784317
Email: ellen.crushell@cuh.ie

Biography

Dr Crushell trained in general paediatrics and subsequently specialised in inherited metabolic disorders, training at the National Centre for Inherited Metabolic Disorders (NCIMD) in Dublin and at the Dept of Metabolic Genetics in Sickkids, Toronto. She works as a consultant metabolic paediatrician at the NCIMD at Temple St. and also at Our Lady's Children's Hospital, Crumlin. At present she runs a busy clinical service assessing, diagnosing and treating children with inherited metabolic disorders. Clinical and research interests include metabolic liver disease (infantile liver failure syndromes) and lysosomal storage disorders

Additional Info:

UCD Academic Centre on Rare Diseases 

Professional

Honours and Awards

Year: 1994.
Title: RGG Barry Gold Medal in Paediatrics

Associations

Association: Society for the Study of Inborn Errors of Metabolism, Function/Role: Member
Association: Society for Inherited Metabolic Diseases, Function/Role: Member
Association: British Inherited Metabolic Disorders Group, Function/Role: Member
Association: Faculty of Paediatrics, RCPI, Function/Role: Fellow and Honorary Treasurer
Association: Governance Board of the National Newborn Screening Programme, Function/Role: Member
     

Conference Contributions

Pitt, JJ; Peters, H; Ferdinandusse, S; Ruiter, J; Wanders, RJ; Yaplito-Lee, J; Kok, F; Boy, R; Korman, SH; Fitzsimons, PE; Crushell, E; Hughes, J; Yamaguchi, S; Goto, Y; Wakamatsu, N; Yokochi, K; Yamada, K; Chen, BC; Ngu, LH (2015) Leigh disease and the valine pathway. [Oral Presentation], Society for Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Lyon, France , 01-SEP-15 - 04-SEP-15.
Neville, S; Sweeney, B; O'Sullivan, S; Lynch, B; Hanrahan, D; Knerr, I; Lynch, SA; Crushell, E (2015) Friedrich ataxia in classical galactosaemia. [Oral Presentation], British Inherited Metabolic Disorders (BIMDG) Annual Meeting, Belfast , 18-JUN-15 - 19-JUN-15.
Fitzsimons, PE; Hughes, J; Crushell, E; Mayne, PD; Taylor, R; Ruiter, J; Ferdinandusse, S; Wanders, WJA; Pitt, J (2015) Routine urine metabolic screening helpful in the diagnosis of both ECHS1 and HIBCH deficiencies. [Oral Presentation], British Inherited Metabolic Disorders (BIMDG) Annual Meeting, Belfast , 18-JUN-15 - 19-JUN-15.
Foley, P; McGrath, N; Nicholson, A; Cox, T; Treacy, E; Pastores, G; Crushell, E (2015) Multiple sulfatase deficiency: A further case and overview of other Irish MSD cases. [Oral Presentation], British Inherited Metabolic Disorders (BIMDG) annual meeting, Belfast , 18-JUN-15 - 19-JUN-15.
Alston, C; He, L; McFarland, R; Shield, J; Murray, P; Morris, A; Clayton, P; Crushell, E; Hughes, J; Taylor, R (2015) A homozygous p.Trp22Arg NDUFB3 mutation is a recurrent cause of mitochondrial complex I deficiency associated with Irish ancestry, a characteristic facial appearance and good prognosis. [Poster Presentation], European Society for Human Genetics Conference, Glasgow , 06-JUN-15 - 09-JUN-15.
Howard, C; Alston, CL; McCarthy, P; Shield, JPH; Murray, PG; He, L; McFarland, R; Knerr, I; Monavari, AA; Clayton, PE; Taylor, RW; Crushell, E; Hughes, J (2015) A homozygous p.Trp22Arg NDUFB3 mutation identified in a cohort of patients with mitochondrial complex I deficiency presenting with persistent growth failure, subtle facial dysmorphism and a variable metabolic phenotype. [Poster Presentation], Society for Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Lyon , 01-SEP-15 - 04-SEP-15.
Knerr, I; Crushell, E; Hughes, J; Monavari, AA; Deverell, D; Mayne, PD; Naughton, E; O'Shea, A; Wala, A; Haberle, J; Treacy, EP (2015) Maple syrup urine disease (MSUD) in Ireland: phenotypes, genotypes and determinants of outcome. [Poster Presentation], Society for Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Lyon, France , 01-SEP-15 - 04-SEP-15.
Howard, C; McCarthy, P; Knerr, I; Monavari, AA; McFarland, R; Shield, JPH; Murray, PG; Clayton, PE; Alston, CL; He, L; Taylor, RW; Crushell, E; Hughes, J (2015) A new mitochondrial syndrome caused by homozygous p.Trp22Arg NDUFB3 mutation in a cohort of patients with persistent growth failure and distinctive facial features. [Oral Presentation], Joint Irish Paediatric Association/Ulster Paediatric Society Annual Meeting, Limerick , 08-MAY-15 - 09-MAY-15.
Casey, J; Crushell, E; Bermingham, N; Cryan, J; Hughes, J; Lynch, SA (2015) When does an exome finding become a diagnosis?. [Oral Presentation], Joint Irish Paediatric Association/Ulster Paediatric Society Annual Meeting, Limerick , 08-MAY-15 - 09-MAY-15.
Casey, J; Crushell, E; Hughes, J; Cox, D; Elnazir, B; White, M; Dorkins, H; Ennis, S; Murphy, H; Lynch, SA (2014) Known knowns, known unknowns and unknowns unknowns ¿ the challenges of exome data analysis. [Oral Presentation], Temple Street Children's University Hospital Research and Audit Day, Temple Street Children's University Hospital, Dublin, Ireland , 20-JUN-14 - 20-JUN-14.

Committees

Committee : Steering Group for Temple Street Quality Initiative Program
 

Education

Year 1994 Institution: UCC
Qualification: MB, BCh, BAO Subject: Medicine
Year 1997 Institution: RCSI
Qualification: DCH Subject: Child Health
Year 1997 Institution: RCPI
Qualification: MRCPI Subject: Paediatrics
     

Journals Edited

Journal Of Inherited Metabolic Disease: Reviewer.
Irish Medical Journal: Reviewer.
Pediatrics: Reviewer.

Other Activities

J Casey won best research award at the  Joint Irish Paediatric Association/Ulster Paediatric Society Annual Meeting 2015 fort eh following presentation : Casey J, Crushell E, Bermingham N, Cryan J, Hughes J, Lynch SA. When does an exome finding become a diagnosis?

C Howard awarded best talk in plenary session at the Joint Irish Paediatric Association/Ulster Paediatric Society Annual Meeting : Howard C, McCarthy P, Knerr I, Monavari AA, McFarland R, Shield PH, Murray PG, Clayton PE, Alston CL, He L, Taylor RW, Crushell E, Hughes J. A new mitrochondrial syndrome caused by homozygous p.Trp22Arg NDUFB3 mutation in a cohort of patients with persistent growth failure and distinctive facial features.

 

P Fitzsimons won best oral presentation at BIMDG annual meeting for the following presentation:

Fitzsimons PE, Hughes J, Crushell E, Mayne PD, Taylor R, Ruiter J, Ferdinandusse S, Wanders WJA, and Pitt J Routine urine metabolic screening helpful in the diagnosis of both ECHS1 and HIBCH deficiencies. BIMDG annual meeting, Belfast June 19, 2015

Publications

 

Book Chapters

Crushell, E; Clarke, JTR (2010) 'Hematological disorders in Inherited Metabolic Disorders' In: Hoffman, G; Zschocke, J; Nyhan, W (eds). Inherited Metabolic Diseases - Clinical Approach and Differential Diagnosis. Heidelberg: Springer Verlag. [Details]
 

Peer Reviewed Journals

Neville, S; O'Sullivan, S; Sweeney, B; Lynch, B; Hanrahan, D; Knerr, I; Lynch, SA; Crushell, E (2016) 'Friedreich ataxia in classical galactosaemia'. JIMD reports, 26 :1-5. [Details]
Ventzke A, Hoffmann J;Crushell E;Monavari A;Mayne PD;Knerr I (2016) ''Malignant Phenylketonuria' (PKU) Due to Dihydropteridine Reductase (DHPR) Deficiency'. Irish Medical Journal, 108 (10):312-314. [Details]
Kennedy J, Noel J;O'Meara A;Mulhall K;Crushell E;Fogarty E;Kelly P (2015) 'A Long-term Retrospective Evaluation of Functional and Radiographic Outcomes of Pediatric Hip Surgery in Hurler Syndrome'. Journal of Pediatric Orthopaedics, . [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]
Casey JP, Crushell E;Thompson K;Twomey E;He L;Ennis S;Philip RK;Taylor RW;King MD;Lynch SA (2015) 'Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?'. JIMD reports, . [DOI] [Details]
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 (2015) 'Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS'. Journal of Inherited Metabolic Disease, 38 (6):1085-1092. [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]
McCarron E, McCormack O;Cronin T;McGowan A;Healy ML;O'Rourke D;Crushell E;Ravi N;Reynolds JV (2014) 'Management of maple syrup urine disease in the peri-operative period'. Irish Medical Journal, 106 (9):277-278. [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]
Langereis EJ, Borgo A;Crushell E;Harmatz PR;van Hasselt PM;Jones SA;Kelly PM;Lampe C;van der Lee JH;Odent T;Sakkers R;Scarpa M;Schafroth MU;Struijs PA;Valayannopoulos V;White KK;Wijburg FA (2013) 'Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure'. Orphanet Journal of Rare Diseases, 8 . [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]
Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, Bourke B, O'Sullivan J, Crushell E, Lynch S, Ennis S (2012) 'Identification of a mutation in LARS as a novel cause of infantile hepatopathy'. Molecular Genetics and Metabolism, 106 (3):351-358. [DOI] [Details]
Crushell E, O'Leary D;Irvine AD;O'Shea A;Mayne PD;Reardon W (2012) 'Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash'. American Journal of Medical Genetics, Part A, 158A (9):2254-2257. [DOI] [Details]
Hawkes CP, Walsh A;O'Sullivan S;Crushell E (2011) 'Doctors' knowledge of the acute management of Inborn Errors of Metabolism'. Acta Paediatrica Scandinavica, 100 (3):461-463. [DOI] [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]
Harty, S.,Fleming, P.,Rowland, M.,Crushell, E.,McDermott, M.,Drumm, B.,Bourke, B.; (2005) 'A prospective study of the oral manifestations of Crohn's disease'. Clin Gastroenterol Hepatol, 3 (9):886-91. [Details]
Bourke B, Crushell E, Harty S, Sharif F, ; (2004) 'Enteric campylobacter: purging its secrets?'. Pediatric Research, 55 (1):3-12. [DOI] [Details]
Crushell E, Rowland M, Doherty M, Gormally S, Harty S, Bourke B, Drumm B.; (2003) 'Importance of parental conceptual model of illness in severe recurrent abdominal pain'. Journal of Paediatrics, 112 :1368-1372. [Details]
Bourke B, Sharif F, Crushell E, O'Driscoll K, ; (2001) 'Liquid paraffin: a reappraisal of its role in the treatment of constipation'. Archives of Disease in Childhood, 85 (2):121-124. [Details]
 

Conference Publications

Canney A, Gillan J, Crushell E, Corcoran D, Clarke T (2005) A Complex Metabolic Disorder with a Progressive Lethal Phenotype: Diagnosis Suspected at 48hrs of Life by Routine Placental Histopathological Examination Irish Paediatric Association Meeting [Details]
                       

Abstract

Casey, J; Lynam-Lennon, N; McGettigan, P; O'Sullivan, J; McDermott, M; Monavari, A; Knerr, I; Hughes, J; Bourke, B; Ennis, S; Lynch, SA; Crushell, E (2013) Recessive mutations in LARS cause a multisystem disorder with infantile liver failure, recurrent hepatopathy, anaemia and epilepsy. Abstract [Details]
Jansen, M,Bourke, W,Howley, R,Crushell, E,Sheahan, K,Farrell, M (2011) Vacuolar cerebellopathy, the molecular autopsy and multiple acyl-CoA dehydrogenase deficiency. Abstract [Details]
O'Sullivan, S,Treacy, EP,Crushell, E,Monavari, A,Brinkley, A,Grant, T,Mayne, PD (2011) LONG-TERM OUTCOMES OF PATIENTS WITH TREATED HOMOCYSTINURIA (CBS DEFICIENCY) IN IRELAND 1971-2009. Abstract [Details]
       

Reviews

Crushell, E,Harty, S,Sharif, F,Bourke, B (2004) Enteric Campylobacter: Purging its secrets?. Reviews [DOI] [Details]
                                                   

Letters

Crushell, E,Rowland, M (2005) Biopsychosocial approach to functional abdominal pain. Letters [Details]

Research

Research Interests

Identifying rare, potentially treatable metabolic disorders through exome sequencing.
Identification of genetic causes of developmental delay where associated with mitochondrial dysfunction.
Understanding the aetiology of liver dysfunction in patients with ILFS1 and other infantile liver failure syndromes. 
Friedreich ataxia in classical galactosaemia
Classical homocystinuria and management guideline development  

Anaesthesia in mitochondrial disease

     

Collaborators

Internal Collaborators

Dr Ina Knerr

Dr Sally Ann Lynch 

External Collaborators

Key External collaborators in 2015:
 
Dr.Dirk J. Lefeber, PhD, Associate prof. Glycosylation Disorders
Translational Metabolic Laboratory ,Radboud university medical center, Nijmegen, The Netherlands

Robert W. Taylor PhD, Professor of Mitochondrial Pathology,
Wellcome Trust Centre for Mitochondrial Research,Newcastle University

Dr James Pitt, Head of Newborn & Metabolic Screening Laboratories
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Dr Siobhan O¿Sullivan,
Dept of metabolic paediatrics, Royal Victoria Hospital, Belfast.