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van Heyningen group – developmental eye anomalies

The small group consists of four core postdoctoral scientists and a core research assistant, with a number of shorter term postdoctoral fellows, graduate students and visiting scientists.

We aim to define genes mutated in developmental eye anomalies and then assess the role of the identified genes in normal development and disease. We have identified three major genes so far, causing aniridia, coloboma, microphthalmia and anophthalmia – they are all key transcription factors showing haploinsufficiency (human phenotype is associated with loss of function of one allele).  The genes are PAX6, SOX2 and OTX2.

We have identified a number of mutations and set up databases to describe our own and others’ findings at www.hgu.mrc.ac.uk/Softdata/ . Additional deletion and translocation cases have also been informative and we have learnt much about regulation of gene expression via cis-regulatory elements and about incomplete penetrance and phenotypic variability.

Methodology

  • Human mutation analysis
  • Dissecting cis-regulatory function by reporter transgenics
  • Phenotype modulation using HSP90 inhibitors in zebrafish

Scientific Cooperations

  • Cooperation 1:
    Sanjay Sisodiya, London
  • Cooperation 2:
    Rob Grainger, Virginia
  • Cooperation 3:
    David J Price, Edinburgh
  • Cooperation 4:
    Sandro Banfi, Naples

Current Research Projects

  • Project 1:
    Cis-regulatory control of developmental gene expression.
  • Project 2:
    Phenotype modification through chaperone function – particularly the role of HSP90
  • Project 3:
    Downstream targets and upstream regulators of PAX6, SOX2 and OTX2 – bioinformatic predictions and systematic validation

Group Leader

Veronica van Heyningen
[more information]

Contact

MRC Human Genetics Unit

Western General Hospital
Crewe Road
EH4 2XU EDINBURGH
United Kingdom

Phone: 0131 332 2471
Fax: 0131 467 8456

Email:
v.vanheyningen[at]hgu.mrc.ac.uk

Website:
www.hgu.mrc.ac.uk/Research/VanHeyningen/

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