Prof Ellen Crushell

  • Clinical Lead for The National Clinical Programme for Paediatrics and Neonatology 
  • Consultant Paediatrician specialising in Metabolic Disorders CHI at Temple Street and Crumlin
  • Associate Clinical Professor with University College Dublin.


Prof. Ellen Crushell, a UCC graduate, qualified as a general paediatrician prior to further specialising in Inherited Metabolic Disorders. She trained at the National Centre for Inherited Metabolic Disorders (NCIMD) and completed her specialist training with a senior fellowship at the Department of Clinical and Metabolic Genetics at The Hospital for Sick Children (SickKids), Toronto, prior to taking up her current consultant post at NCIMD and Our Lady’s Childrens Hospital Crumlin in 2009. She had been awarded Associate Clinical Professor status with UCD.

Her clinical and research interests include Infantile Liver Failure Syndrome Type I, metabolic liver disease and Lysosomal Storage Disorders. She is currently involved in metabolic genetic research projects (uncovering the genetic basis of developmental delay associated with mitochondrial markers) and international collaborative studies for Homocystinuria, MPSII and Niemann Pick diseases.


Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A,…. Crushell E…… Patterson M; International Niemann-Pick Disease Registry (INPDR).Orphanet J Rare Dis. 2018 Apr 6;13(1):50

Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
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. J Inherit Metab Dis. 2015;38(6):1085-92.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C, Peters B, Wagner M, Alameer S, Baric I, Broué P, Bulut D, Church JA, Crushell E…Lenz D, Genet Med. 2020 Mar;22(3):610-621