Short CV/Education and training

  • 1973
    DPhil University of Oxford, with Walter Bodmer

  • 1973
    Beit Memorial Fellow, MRC Mammalian Genome Unit, Edinburgh

  • 1977
    MRC Postdoctoral Scientist, MRC Human Genetics Unit, Edinburgh

  • 1981
    MRC Appointment of unlimited tenure

  • 1991
    MRC Appointment Special Grade scientist

  • 1992 – 2012
    Group Leader and Section Head, MRC HGU, Edinburgh

  • 2012
    Honorary Professor Institute of Ophthalmology, University College, London

  • 2013
    Visiting Scientist MRC HGU, IGMM, University of Edinburgh

Selected publications

  • Bhatia, S., Gordon, C. T., Foster, R. G., Melin, L., Abadie, V., Baujat, G.,Vazquez, M., Amiel, J., Lyonnet, S., van Heyningen, V., Kleinjan, D. A. (2015). Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish. PLoS genetics, 11 (6), e1005193. doi:10.1371/journal.pgen.1005193

  • Naville M, Ishibashi M, Ferg M, Bengani H, Rinkwitz S, Krecsmarik M, Hawkins TA, Wilson SW, Manning E, Chilamakuri CS, Wilson DI, Louis A, Raymond FL, Rastegar S, Strähle U, Lenhard B, Bally-Cuif L, van Heyningen V, FitzPatrick DR, Becker TS, Roest Crollius H. (2015). Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome. Nature Communications, 6. doi:10.1038/ncomms7904

  • Bhatia, S., Monahan, J., Ravi, V., Gautier, P., Murdoch, E., Brenner, S., van Heyningen, V., Venkatesh, B., Kleinjan, D. A. (2014). A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos. Dev Biol, 387 (2), 214-228. doi:10.1016/j.ydbio.2014.01.007

  • Rainger, J., Pehlivan, D., Johansson, S., Bengani, H., Sanchez-Pulido, L., Williamson, K. A., . . . FitzPatrick, D. R. (2014). Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet, 94 (6), 915-923. doi:10.1016/j.ajhg.2014.05.005

  • Bhatia, S., Bengani, H., Fish, M., Brown, A., Divizia, M. T., de Marco, R., . . . Kleinjan, D. A. (2013). Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet, 93 (6), 1126-1134. doi:10.1016/j.ajhg.2013.10.028

  • Coutinho P, Pavlou S, Bhatia S, Chalmers KJ, Kleinjan DA, van Heyningen V. Discovery and assessment of conserved Pax6 target genes and enhancers. Genome Res. 2011 Aug;21(8):1349-59. doi: 10.1101/gr.124115.111. Epub 2011 May 26. PubMed PMID: 21617155; PubMed Central PMCID: PMC3149501.

  • Kleinjan DA, Bancewicz RM, Gautier P, Dahm R, Schonthaler HB, Damante G, Seawright A, Hever AM, Yeyati PL, van Heyningen V, Coutinho P. Subfunctionalization of duplicated zebrafish pax6 genes by cis-regulatory divergence. PLoS Genet. 2008 Feb;4(2):e29. doi: 10.1371/journal.pgen.0040029. PubMed PMID: 18282108; PubMed Central PMCID: PMC2242813.

  • Yeyati PL, Bancewicz RM, Maule J, van Heyningen V. Hsp90 selectively modulates phenotype in vertebrate development. PLoS Genet. 2007 Mar 30;3(3):e43. Epub 2007 Feb 8. PubMed PMID: 17397257; PubMed Central PMCID: PMC1839141.

  • Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, Russell-Eggitt I, Fielder A, Gerrelli D, Martinez-Barbera JP, Ruddle P, Hurst J, Collin JR, Salt A, Cooper ST, Thompson PJ, Sisodiya SM, Williamson KA, Fitzpatrick DR, van Heyningen V, Hanson IM. Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet. 2005 Jun;76(6):1008-22. Epub 2005 Apr 21. Erratum in: Am J Hum Genet. 2005 Aug;77(2):334. PubMed PMID: 15846561; PubMed Central PMCID: PMC1196439.

  • Kleinjan DA, van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet. 2005 Jan;76(1):8-32. Epub 2004 Nov 17. Review. PubMed PMID: 15549674; PubMed Central PMCID: PMC1196435.

Complete list of publications

Selected projects

  • Early gene mapping using somatic cell hybrids

  • Identification and functional analysis of inflammatory marker elevated in many diseases, including cystic fibrosis

  • Gene identification in developmental abnormalities of the eye

  • Mechanisms of genetic disease causation

  • Dissection of long-range control in development and disease

  • Phenotype modulation

  • Disease penetrance and expressivity

  • Pax6 role in brain: interhemispheric transfer, pineal, and olfactory development and in adult tissue maintenance

  • Transcription factors SOX2 and OTX2 in eye malformations

  • Transcription factor networks and downstream targets

Membership in scientific bodies/juries

  • EMBO

  • Genetics Society (UK)

  • European Society of Human Genetics

  • British Society of Genomic Medicine

  • American Society of Human Genetics

  • Society of Biology

  • Fellow Academy of Medical Sciences

  • Fellow Royal Society of Edinburgh

  • Fellow Royal Society

Media coverage

  • Have participated in radio interviews on scientific and ethical issues

  • Have given evidence to Parliamentary Science Committees

Soft Skills/Other activities and achievements

Additional interests

  • Public debate in science

  • Discussion groups

  • Cafes Scientifiques

  • Travel

  • Theatre

  • Museums and Galleries

Other activities and achievements/family

  • Mother of two adult children

  • Grandmother of four


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