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Prof Veronica Van Heyningen
Institute of Ophthalmology
11-43 Bath Street
  • Honorary Professor
  • Institute of Ophthalmology
  • Faculty of Brain Sciences

1968 BA (Cambridge) Natural Sciences
1970 MS (Northwestern Illinois)
1973 DPhil (Oxford) with Walter Bodmer
1973-76    Beit Memorial Fellow
MRC Human Genetics Unit, Edinburgh:
1977-1981 MRC Postdoctoral Scientist
1981 MRC Appointment of unlimited tenure        
1986 MRC  Senior Scientist
1991 MRC Special Appointment
1992- Head of Medical and Developmental Genetics Section – Joint Head from January 2009 to May 2010
December 2012 Retired from MRCHGU at Institute of Genetics and Molecular  Medicine  University of Edinburgh
2012 Honorary Professor, University College London, Institute of Ophthalmology
2013 Honorary Professor, University of Edinburgh
1993-7 Howard Hughes International Scholar
1995 Honorary Professor University of Edinburgh
1997 Fellow of the Royal Society of Edinburgh
1999 Fellow Academy of Medical Sciences
2007 Fellow of the Royal Society
2010 CBE

2013 Patron Aniridia Network UK
2014 President Galton Institute

Research Themes
Research Summary

Since 1990, I have worked on the genetics of developmental malformations of the human eye. We identified a number of major genes implicated in aniridia and microphthalmia/anophthalmia. PAX6, SOX2 and OTX2 are three key transcription factor genes implicated  in these diseases. Having identified the genes, we have explored the broader biological role of these genes in development and disease, using deep observation of human cases and studies in model organisms including mouse and zebrafish. Our studies have encompassed the spectrum of dominant (haploinsufficient) mutations in these genes associated with disease. Some disease-causing mutations are associated with the extensive regulatory regions controlling the expression of these genes. These have led us to study mechanisms of long-range control of gene expression, particularly for the PAX6 gene. Variations in phenotypic spectrum also prompted some work on factors implicated in this phenomenon. With many developmental abnormalities phenotypic variability and non-penetrance (no disease, despite the presence of mutation which does lead to disease in other carriers) are quite frequently observed. We have focussed on the role of chaperones and associated proteins in this context.

Teaching Summary

Lectures on research work to graduate students and postdocs and at meetings.
Trained more than a dozen PhD students, including some clinicians and about 15 postdocs

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