https://www.gosh.nhs.uk/our-people/staff-z/Emma_Wakeling/

Dr Emma Wakeling

This is a photo of Dr Emma Wakeling

Rare Disease Lead

Consultant in Clinical Genetics and Genomic Medicine

Dr Wakeling has been a consultant in clinical genetics at Great Ormond Street Hospital (GOSH) since 2019. Prior to this she was a consultant at North West Thames Regional Genetics Service (NWTRGS) from 2004, where she was lead clinician for 4 years. At GOSH she provides clinics in Paediatric Genetics, particularly dysmorphology. She runs a specialist joint clinic with paediatric endocrinology for children with Silver-Russell syndrome and other growth disorders. She is also a member of the GOSH multidisciplinary team caring for children with Differences of Sex Development (DSD).

Dr Wakeling was previously Pan-Thames Training Programme Director for Clinical Genetics and member of the Specialist Advisory Committee for Clinical Genetics. She is currently Treasurer of the Clinical Genetics Society. She is also medical advisor to the Child Growth Foundation and the Silver-Russell syndrome Global Alliance.

Dr Wakeling qualified with an MA from the University of Oxford (1989) and MBBS from the United Medical and Dental Schools of Guys and St Thomas’ Hospitals (1992). She was awarded a PhD by the University of London in 1999 for her work on Silver-Russell Syndrome.

Specialisms

Areas of special interest: Childhood genetic disorders, disorders of imprinting and growth failure

Research interests: Dr Wakeling has a long-standing research interest in disorders of imprinting and growth failure, including Silver-Russell syndrome (SRS). In 2017 she chaired the clinical working group for development of the first international consensus guidelines for clinical diagnosis and management of SRS.

She also has a number of ongoing collaborations with national and international research groups looking at new gene discovery and genotype-phenotype correlation in rare paediatric genetic disorders.

Selected publications:

  • A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome. Am J Med Genet A. 2009; 149A: 2075-9. E Forsythe, R Wild, G Sellick, RS Houlston, AR Lehmann, E Wakeling.
  • A distinct autosomal recessive disorder of limb development with preaxial brachydactyly, phalangeal duplication, symphalangism and hyperphalangism. Clin Dysmorphol. 2010; 19: 23-7. H Race, CM Hall, MG Harrison, OW Quarrell, EL Wakeling.
  • Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet. 2010; 47: 760-8. Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM.
  • Silver-Russell syndrome. Arch Dis Child. 2011; 96: 1156-61. Wakeling EL.
  • Diagnosis and management of Silver-Russell syndrome: first international consensus statement.Nat Rev Endocrinol. 2017;13:105-124.Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Nat Rev Endocrinol. 2017;13:105-124.
  • Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome. HGG Adv 2021; 2:100015.Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw-Smith, Karen L. Stals, Matthew Wakeling, Angela Barnicoat, Clare Beesley, DDD Study, Andrea K. Hanson-Kahn, Mary Kukolich, David A. Stevenson, Philippe M. Campeau, Sian Ellard, Sarah H. Elsea, Xiang-Jiao Yang, Richard C. Caswell.