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Blizard Institute - Faculty of Medicine and Dentistry

Professor David van Heel, BM BCh MA DPhil FRCP


Professor of Genetics

Centre: Centre for Genomics and Child Health

Telephone: 020 7882 2330


Research Theme: Genomic Medicine


I completed a Natural Sciences BA at Cambridge University in 1990 and Clinical Medicine training at University of Oxford (George Pickering Finals Prize) in 1993.

A Medical Research Council Clinical Training Fellowship led to a PhD from the Wellcome Trust Centre for Human Genetics, University of Oxford in 2002.

I was then a Wellcome Trust Clinician Scientist Fellow at Imperial College London from 2002 to 2006.

I completed specialist medical training as a Consultant in Gastroenterology in 2004.

In 2006, I was appointed to Professor of Genetics at Barts and The London School of Medicine and Dentistry, and Consultant Gastroenterologist at Barts Health NHS Trust. 

See my research page below.

I am Clinical Information Officer for Barts Health NHS Trust (NHS medical informatics & eHealth, usage & research, 2013-).

We won the 2014 E Health Insider Digital NHS Trust of the Year award ( 

I tweet about clinical informatics (follow @dvh13), especially aimed at users of our local Barts Health Millennium and other systems.

I run a Barts Health NHS Trust Gastroenterology Outpatient Clinic (special interest in coeliac disease) at the Royal London Hospital (NHS secretary email:  , tel: 0203 594 3300).

I am happy for patients or GPs to email me direct.

I am a member of the patient charity Coeliac UK's Health Advisory Committee.

I co-wrote the 2014 UK guidelines on Diagnosis and management of adult coeliac disease (



Research Interests:

I am Chief Investigator and Joint Lead (with Richard Trembath) for East London Genes & Health, a large scale, long-term community based health research study of (British-) Bangladeshi- and Pakistani-origin East London residents with genetics, health records, and volunteer recall for further medical research studies.

Please join the East London Genes & Health newsletter (sent out about twice a year), and follow the study on Twitter (@EastLondonGenes).

I have a particular interest in "human knockouts", rare variant homozygous loss of function genotypes naturally occuring in healthier adults. We published a first study "Health and population effects of rare gene knockouts in adult humans with related parents" in Science 2016 (free full text access).

East London Genes and Health

Other longstanding research interests include the human autoimmune diseases (especially coeliac disease, type 1 diabetes and Crohn's disease), and the functional/immunological consequences of disease predisposing genetic variants on human biology.

My group's previous genetic datasets are available (free) to scientific investigators via a formal application and Data Access Agreement and are hosted here:

My research publications are best viewed on Google Scholar, which I keep up to date. There is also a "top ten" list below.

I have current or recent funding and/or support from:

  • HEFCE Catalyst Fund
  • Medical Research Council
  • Wellcome Trust
  • Barts Charity

I am a member of the Medical Research Council Population and Systems Medicine Board (2016-).

I am a member of the Wellcome Trust Peer Review College (2014-).

Follow me on Twitter: @dvh13


Research Group Members

Karen Hunt, Research Manager

Beverley MacLaughlin, Project Manager

Kamrul Islam, Research Assistant

Cath Lavery, Industry Partnership Manager

Fizzah Choudry, NIHR Academic Clinical Lecturer



Citation indices (Google Scholar - I keep this updated):



A "top ten" selection of my publications:


Narasimhan VM, Hunt KA, et al (n=29), Trembath RC, MacArthur DG, Wright J, Durbin R, van Heel DA.

Health and population effects of rare gene knockouts in adult humans with related parents.

Science. 2016 Apr 22;352(6284):474-7. (free full text)


Ludvigsson JF, et al. (n=19 in alphabetical order including van Heel DA), Sanders DS; Authors of the BSG Coeliac Disease Guidelines Development Group.

Diagnosis and management of adult coeliac disease: guidelines from the British Society of Gastroenterology.

Gut. 2014 Aug;63(8):1210-28.


Hunt KA, Mistry V, Bockett NA, Ahmad T, Ban M, Barker JN, Barrett JC, Blackburn H, Brand O, Burren O, Capon F, Compston A, Gough SC, Jostins L, Kong Y, Lee JC, Lek M, MacArthur DG, Mansfield JC, Mathew CG, Mein CA, Mirza M, Nutland S, Onengut-Gumuscu S, Papouli E, Parkes M, Rich SS, Sawcer S, Satsangi J, Simmonds MJ, Trembath RC, Walker NM, Wozniak E, Todd JA, Simpson MA, Plagnol V, van Heel DA

Negligible impact on missing heritability of autoimmune-locus rare coding-region variants.

Nature. 2013;498(7453):232-5.


Hunt KA, Smyth DJ, Balschun T, Ban M, Mistry V, Ahmad T, Anand V, Barrett JC,  Bhaw-Rosun L, Bockett NA, Brand OJ, Brouwer E, Concannon P, Cooper JD, Dias KR, van Diemen CC, Dubois PC, Edkins S, Fölster-Holst R, Fransen K, Glass DN, Heap GA, Hofmann S, Huizinga TW, Hunt S, Langford C, Lee J, Mansfield J, Marrosu MG, Mathew CG, Mein CA, Müller-Quernheim J, Nutland S, Onengut-Gumuscu S, Ouwehand W, Pearce K, Prescott NJ, Posthumus MD, Potter S, Rosati G, Sambrook J, Satsangi J,  Schreiber S, Shtir C, Simmonds MJ, Sudman M, Thompson SD, Toes R, Trynka G, Vyse  TJ, Walker NM, Weidinger S, Zhernakova A, Zoledziewska M; Type 1 Diabetes Genetics Consortium; UK Inflammatory Bowel Disease (IBD) Genetics Consortium; Wellcome Trust Case Control Consortium, Weersma RK, Gough SC, Sawcer S, Wijmenga  C, Parkes M, Cucca F, Franke A, Deloukas P, Rich SS, Todd JA, van Heel DA.

Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry.

Nat Genet. 2012;44(1):3-5. doi: 10.1038/ng.1037. PubMed PMID: 22200769; PubMed Central PMCID: PMC3287292.


Trynka G, Hunt KA, Bockett NA, Romanos J, Mistry V, Szperl A, Bakker SF, Bardella MT, Bhaw-Rosun L, Castillejo G, de la Concha EG, de Almeida RC, Dias KR, van Diemen CC, Dubois PC, Duerr RH, Edkins S, Franke L, Fransen K, Gutierrez J, Heap GA, Hrdlickova B, Hunt S, Izurieta LP, Izzo V, Joosten LA, Langford C, Mazzilli MC, Mein CA, Midah V, Mitrovic M, Mora B, Morelli M, Nutland S, Núñez C, Onengut-Gumuscu S, Pearce K, Platteel M, Polanco I, Potter S, Ribes-Koninckx C, Ricaño-Ponce I, Rich SS, Rybak A, Santiago JL, Senapati S, Sood A, Szajewska H, Troncone R, Varadé J, Wallace C, Wolters VM, Zhernakova A; Spanish Consortium on  the Genetics of Coeliac Disease (CEGEC); PreventCD Study Group; Wellcome Trust Case Control Consortium (WTCCC), Thelma BK, Cukrowska B, Urcelay E, Bilbao JR, Mearin ML, Barisani D, Barrett JC, Plagnol V, Deloukas P, Wijmenga C, van Heel DA.

Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.

Nat Genet. 2011 Nov 6;43(12):1193-201. doi: 10.1038/ng.998. PubMed PMID: 22057235; PubMed Central PMCID: PMC3242065.


Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA,  Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T,  Abrams DJ, MacDonald TT, Harper JI, Kelsell DP.

Inflammatory skin and bowel disease linked to ADAM17 deletion.

N Engl J Med. 2011 Oct 20;365(16):1502-8. PubMed PMID: 22010916.


Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A,  Heap GA, Adány R, Aromaa A, Bardella MT, van den Berg LH, Bockett NA, de la Concha EG, Dema B, Fehrmann RS, Fernández-Arquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwen RH, Hunt SE, Kaukinen K, Kelleher D, Korponay-Szabo I, Kurppa K, MacMathuna P, Mäki M, Mazzilli MC, McCann OT, Mearin  ML, Mein CA, Mirza MM, Mistry V, Mora B, Morley KI, Mulder CJ, Murray JA, Núñez C, Oosterom E, Ophoff RA, Polanco I, Peltonen L, Platteel M, Rybak A, Salomaa V,  Schweizer JJ, Sperandeo MP, Tack GJ, Turner G, Veldink JH, Verbeek WH, Weersma RK, Wolters VM, Urcelay E, Cukrowska B, Greco L, Neuhausen SL, McManus R, Barisani D, Deloukas P, Barrett JC, Saavalainen P, Wijmenga C, van Heel DA.

Multiple common variants for celiac disease influencing immune gene expression.

Nat Genet. 2010 Apr;42(4):295-302. Epub 2010 Feb 28. PubMed PMID: 20190752; PubMed Central PMCID: PMC2847618.


Smyth DJ, Plagnol V, Walker NM, Cooper JD, Downes K, Yang JH, Howson JM, Stevens H, McManus R, Wijmenga C, Heap GA, Dubois PC, Clayton DG, Hunt KA, van Heel DA, Todd JA.

Shared and distinct genetic variants in type 1 diabetes and celiac disease.

N Engl J Med. 2008 Dec 25;359(26):2767-77. Epub 2008 Dec 10. PubMed PMID: 19073967; PubMed Central PMCID: PMC2840835.


Hunt KA, Zhernakova A, Turner G, Heap GA, Franke L, Bruinenberg M, Romanos J, Dinesen LC, Ryan AW, Panesar D, Gwilliam R, Takeuchi F, McLaren WM, Holmes GK, Howdle PD, Walters JR, Sanders DS, Playford RJ, Trynka G, Mulder CJ, Mearin ML, Verbeek WH, Trimble V, Stevens FM, O'Morain C, Kennedy NP, Kelleher D, Pennington DJ, Strachan DP, McArdle WL, Mein CA, Wapenaar MC, Deloukas P, McGinnis R, McManus R, Wijmenga C, van Heel DA.

Newly identified genetic risk variants for celiac disease related to the immune response.

Nat Genet. 2008 Apr;40(4):395-402. Epub 2008 Mar 2. PubMed PMID: 18311140; PubMed Central PMCID: PMC2673512.


van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, Wapenaar  MC, Barnardo MC, Bethel G, Holmes GK, Feighery C, Jewell D, Kelleher D, Kumar P,  Travis S, Walters JR, Sanders DS, Howdle P, Swift J, Playford RJ, McLaren WM, Mearin ML, Mulder CJ, McManus R, McGinnis R, Cardon LR, Deloukas P, Wijmenga C.

A genome-wide association study for celiac disease identifies risk variants in the  region harboring IL2 and IL21.

Nat Genet. 2007 Jul;39(7):827-9. Epub 2007 Jun 10. PubMed PMID: 17558408; PubMed Central PMCID: PMC2274985.


van Heel DA, Ghosh S, Butler M, Hunt KA, Lundberg AM, Ahmad T, McGovern DP, Onnie C, Negoro K, Goldthorpe S, Foxwell BM, Mathew CG, Forbes A, Jewell DP, Playford RJ.

Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease.

Lancet. 2005 May 21-27;365(9473):1794-6. PubMed  PMID: 15910952.

View all David van Heel's Research Publications at: