https://www.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/clinical-genetics-information-parents-and-visitors/meet-clinical-genetics-team/louise-wilson/

Dr Louise Wilson

This is a photo of Dr Louise Wilson

Consultant in Clinical Genetics

Dr Wilson has been a consultant in Clinical Genetics at Great Ormond Street since 1997. She has an interest in the genetics of craniofacial disorders and provides clinical genetics for the GOSH highly specialised craniosynostosis service. Other interests include rare paediatric disorders in particular the genetic aspects of pseudohypoparathyroidism and other GNAS-related disorders, calcium and other endocrine disorders, acrodysostosis, and skeletal dysplasias.

Dr Wilson obtained her medical degree at the University of Manchester including an intercalated BSc in Biochemistry. She obtained a Diploma in Clinical Genetics at the Institute of Child Health & University College, London and an MRC Training Fellowship in genetics at the Institute of Child Health, London and University of Leicester. She undertook specialist Clinical Genetics training in Manchester. 

Specialisms

Areas of Special Interest: Craniofacial Genetics, Skeletal dysplasia, Paediatric dysmorphology, Pseudohypoparathyroidism

Research interests: Dr Wilson is the clinical co-applicant on the research ‘Generating human models of acrodysostosis for testing mechanisms and pharmacological intervention’ led by Professor Ferretti at the Institute of Child Health, London. She is a clinical collaborator on the ‘Genetic Basis of Craniofacial Malformations Study’ led by Professor Wilkie at the University of Oxford. She also collaborates nationally and internationally with researchers working on rare paediatric genetic disorders.

Selected publications:

  • Obesity-associated GNAS mutations disrupt the melanocortin pathway. Mendes de Oliveira E, Keogh JM, Talbot F, Henning E, Ahmed R, Perdikari A, Bounds R, Wasiluk N, Ayinampudi V, Barroso I, Mokrosiński J, Jyothish D, Lim, Gupta S, Kershaw M, Matei C, Partha P, Randell T, McAulay A, Wilson LC, Cheetham T, Crowne EC, Clayton P, Farooqi IS. N Engl J Med 2021
  • ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC. Am J Med Genet A. 2019 Apr;179(4):615-627. Epub 2019 Feb 13.PMID:30758909
  • Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: A second report. Brittain HK, Feary J, Rosenthal M, Spoudeas H; Deciphering Developmental Disorders (DDD) Study, Wilson LC. Am J Med Genet A. 2019 Jul;179(7):1346-1350. Epub 2019 May 15. PMID:31091003
  • Juvenile Paget's disease with compound heterozygous mutations in TNFRSF11B presenting with recurrent clavicular fractures and a mild skeletal phenotype. Naot D, Wilson LC, Allgrove J, Adviento E, Piec I, Musson DS, Cundy T, Calder AD. Bone. 2020 Jan;130:115098. Epub 2019 Oct 23.PMID: 31655221
  • SMAD6 variants in craniosynostosis: genotype and phenotype evaluation. Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM.Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5.PMID: 32499606