https://www.gosh.nhs.uk/our-people/staff-z/Eleanor_Hay/
Dr Eleanor Hay
Consultant in Clinical Genetics and Genomic Medicine
Dr Hay has been a consultant at Great Ormond Street Hospital since 2021, specialising in paediatric rare disease and genetic eye conditions. She works alongside colleagues at GOSH, Moorfields Eye Hospital and the UCL Institute of Ophthalmology, to achieve earlier genetic diagnoses in children with eye disorders, with the aspiration that this will allow increasingly targeted therapies to be offered in the future. In additional, Dr Hay is the clinical geneticist attached to the UK retinoblastoma service based in London and sees all families referred to the unit for genetic testing and counselling. She is a member of the Childhood Eye Cancer Trust (CHECT) Specialist Advisory Board.
Dr Hay obtained her intercalated BSc at the Institute of Child Health (2005, 1st class Hons), undergraduate medical degree at Barts and the London Medical school (2006, Distinction), MRCPCH (2009), MSc in Genomic Medicine at Kings/St Georges (2018, Distinction) and worked for several years as a Paediatric Registrar in the West Midlands before training as a clinical geneticist at Great Ormond Street. She is both a council member of the UK Clinical Genetics Society and co-chair of the RCPCH Genomics Working Group and is keen to promote improved integration between Clinical Genetics and Paediatric specialities. To further support genomic mainstreaming, Dr Hay is also a co-chair of the NHSE Genomics Education Programme Paediatric working group.
Specialisms
Areas of special interest: Rare disease, genomic eye disorders, retinoblastoma
Research interest: Genomic eye disorders, retinoblastoma, 100K reanalysis
Selected Publications:
Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, van Sant D, Stark Z, Whiffin N, Rehm HL, Ware JS.medRxiv. 2023 Apr 3:2023.03.30.23287948.
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation. Bernkopf M, Abdullah UB, Bush SJ, Wood KA, Ghaffari S, Giannoulatou E, Koelling N, Maher GJ, Thibaut LM, Williams J, Blair EM, Kelly FB, Bloss A, Burkitt-Wright E, Canham N, Deng AT, Dixit A, Eason J, Elmslie F, Gardham A, Hay E, Holder M, Homfray T, Hurst JA, Johnson D, Jones WD, Kini U, Kivuva E, Kumar A, Lees MM, Leitch HG, Morton JEV, Németh AH, Ramachandrappa S, Saunders K, Shears DJ, Side L, Splitt M, Stewart A, Stewart H, Suri M, Clouston P, Davies RW, Wilkie AOM, Goriely A. Nat Commun. 2023 Feb 15;14(1):853
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders. Lee S, Menzies L, Hay E, Ochoa E, Docquier F, Rodger F, Deshpande C, Foulds NC, Jacquemont S, Jizi K, Kiep H, Kraus A, Löhner K, Morrison PJ, Popp B, Richardson R, Haeringen A, Martin E, Toribio A, Li F, Jones WD, Sansbury FH, Maher ER. Hum Mol Genet. 2023 May 11
The Phenotypic Continuum of ATP1A3-Related Disorders. Vezyroglou A, Akilapa R, Barwick K, Koene S, Brownstein CA, Holder-Espinasse M, Fry AE, Németh AH, Tofaris GK, Hay E, Hughes I, Mansour S, Mordekar SR, Splitt M, Turnpenny PD, Demetriou D, Koopmann TT, Ruivenkamp CAL, Agrawal PB, Carr L, Clowes V, Ghali N, Holder SE, Radley J, Male A, Sisodiya SM, Kurian MA, Cross JH, Balasubramanian M.Neurology. 2022 Oct
A practical approach to the genomics of kidney disorders. Hay E, Cullup T, Barnicoat A. Pediatr Nephrol. 2022 Jan