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

Dr Emma Clement

This is a photo of Dr Emma Clement

Departmental Education and Training Lead

Consultant in Clinical Genetics and Genomic Medicine

Dr Clement has been a consultant at Great Ormond Street Hospital since 2017. She has an interest in paediatric rare disease and the integration of genomic testing into clinical care. She was very involved in the 100,000 genomes project across the North Thames region. Dr Clement provides general genetics clinics and also a genetic deafness clinic at Great Ormond Street Hospital. She is the geneticist for the Dual Sensory Service at Great Ormond Street.

Dr Clement graduated with MBChB, BSc from the University of Manchester (2001), MRCPCH (2004), RCPath Certificate in Medical Genetics (2015), PGCert Interpretation and Clinical Application of Genomic Data, St George’s University (2016) and was appointed FRCP in 2023. Dr Clement has an MD(Res) from UCL on congenital muscular dystrophy (2011).

Dr Clement is SpR training lead for clinical genetics at Great Ormond Street Hospital.

Specialisms

Areas of special interest: Genetics of hearing loss and dual sensory conditions.

Research interests: Dr Clement is part of the UCL-BRC otogenetics group.

Selected Publications:

  • The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns. A.F. Juliano, F. D’Arco, J. Pao, S. Picariello, E. Clement, G. Moonis, C.D. Robson. American Journal of Neuroradiology Nov 2022, 43 (11) 1646-1652; DOI: 10.3174/ajnr.A7653
  • Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation. J. Pao, F. D’Arco, E. Clement, S. Picariello, G. Moonis, C.D. Robson and A.F. Juliano. American Journal of Neuroradiology February 2022, 43 (2) 309-314
  • Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges. Hill M, Hammond J, Lewis C, Mellis R, Clement E, Lyn S Chitty EJHG 19 Jun 2020, 28(11):1529-1540
  • Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease. Saskia B Wortmann , Brigitte Meunier , Lamia Mestek-Boukhibar , Florence van den Broek , Elaina M Maldonado , Emma Clement , Daniel Weghuber , Johannes Spenger , Zdenek Jaros , Fatma Taha , Wyatt W Yue, Simon J Heales, James E Davison , Johannes A Mayr , Shamima Rahman 11 Am J Hum Genet . 2020 Feb 6;106(2):256-263.
  • Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. J Med Genet 2018;55:721–728 Mestek-Boukhibar L, Clement E, Jones WD, Drury S, Ocaka L, Gagunashvili A, Le Quesne Stabej P, Bacchelli C, Jani N, Rahman S, Jenkins L, Hurst JA, Bitner-Glindzicz M, Peters M, Beales PL, Williams HJ