https://www.gosh.nhs.uk/our-people/staff-z/richard-scott/
Richard Scott
Consultant in Clinical Genetics
Richard Scott attended medical school at Cambridge University and University College London before training in Paediatrics and subsequently Clinical Genetics in London.
During his training in Clinical Genetics he studied for a PhD in Clinical and Molecular Genetics at the Institute of Cancer Research / Royal Marsden Hospital.
He is now a Consultant in Clinical Genetics at Great Ormond Street Hospital and an Honorary Senior Lecturer in the Clinical and Molecular Genetics Unit at the Institute of Child Health.
Richard is also Chief Medical Officer and Deputy CEO of Genomics England
Specialisms
Areas of Special Interest: interest are clinical dysmorphology, complex childhood genetic disorders and the translation of new genetic technologies into clinical practice.
Research interests: Newborn screening for genetic conditions, Beckwith Widermann syndrome
Selected publications:
- Pairo-Castineira E, Clohisey S et al. Genetic mechanisms of critical illness in COVID-19. Nature. 2021 Mar;591(7848):92-98
- Scott RH, Fowler TA, Caulfield M. Genomic medicine: time for health-care transformation. Lancet. 2019 Aug 10;394(10197):454-456.
- Martin AR, Williams E et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565.
- Aitken S, Firth HV et al. Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data. Am J Hum Genet. 2019 Nov 7;105(5):933-946.
- Lord J, McMullan DJ et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet. 2019 Feb 23;393(10173):747-757.