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

Dr Ajith Kumar

This is a photo of Dr Ajith Kumar

Cancer Genetics lead

Consultant in Clinical Genetics

Dr Ajith Kumar has been a Consultant in Clinical Genetics at Great Ormond Street Hospital since January 2006. Dr Kumar does Cancer Genetics, Neuroendocrine tumour and General Genetics clinics covering all age groups at Great Ormond Street Hospital and outreach clinics in the region. He has a special interest in Neuroendocrine tumours, overlap between cancer genetics and dysmorphology and improving quality of care using computing.

Dr Kumar obtained his MBBS (1990), Diploma in Child Health (1992) and MD in Paediatrics (1994) from the University of Calicut in India. He passed MRCP (UK) in 1997 and as awarded MRCPCH the same year. After a spell of SHO and Registrar posts across the UK, he passed MSc in Medical genetics from Glasgow University with distinction in 2001. He did his clinical genetics registrar training at St. George’s and Guy’s Hospital between 2001 and 2005.

Specialisms

Areas of special interest: Cancer Genetics, Neuroendocrine tumours

Research interests: Dr Kumar has published widely on Genetic disorders and co-wrote the Genereviews article on Familial Isolated Pituitary Adenomas.

Selected publications:

  • SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect. McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T, Delpire E. Brain. 2020 Aug 1;143(8):2380-2387. doi: 10.1093/brain/awaa176. PMID: 32658972
  • AIP Familial Isolated Pituitary Adenomas. Korbonits M, Kumar AV.2012 Jun 21 [updated 2020 Apr 16]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. PMID: 22720333
  • An analysis of surveillance screening for SDHB-related disease in childhood and adolescence. Tufton N, Shapiro L, Sahdev A, Kumar AV, Martin L, Drake WM, Akker SA, Storr HL. Endocr Connect. 2019 Mar 1;8(3):162-172. doi: 10.1530/EC-18-0522. PMID: 30694796
  • Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. Whitworth J, Smith PS, Martin JE, West H, Luchetti A, Rodger F, Clark G, Carss K, Stephens J, Stirrups K, Penkett C, Mapeta R, Ashford S, Megy K, Shakeel H, Ahmed M, Adlard J, Barwell J, Brewer C, Casey RT, Armstrong R, Cole T, Evans DG, Fostira F, Greenhalgh L, Hanson H, Henderson A, Hoffman J, Izatt L, Kumar A, Kwong A, Lalloo F, Ong KR, Paterson J, Park SM, Chen-Shtoyerman R, Searle C, Side L, Skytte AB, Snape K, Woodward ER; NIHR BioResource Rare Diseases Consortium, Tischkowitz MD, Maher ER. Am J Hum Genet. 2018 Jul 5;103(1):3-18. doi: 10.1016/j.ajhg.2018.04.013. Epub 2018 Jun 14. PMID: 29909963
  • A novel DICER1 mutation in familial multinodular goitre. Caimari F, Kumar AV, Kurzawinski T, Butler G, Sabbaghian N, Foulkes WD, Korbonits M. Clin Endocrinol (Oxf). 2018 Jul;89(1):110-112. doi: 10.1111/cen.13613. Epub 2018 May 4. No abstract available. PMID: 29633305