We are delighted to have Veronica van Heyningen, CBE as Patron of Aniridia Network. Veronica is a highly distinguished geneticist who has done extensive research into the genes that cause aniridia.
Veronica will use her status, knowledge and contacts to assist the charity and further our cause in various ways. This includes seeking out and exploiting opportunities for funding, publicity and participation in activities,
The trustees wish to thank Veronica for taking on this important role and are confident that together the organisation will grow bigger and stronger.
Veronica has provided the following introduction to herself
How the idea of becoming a patron emerged
More than 20 years after my lab played a major role in identifying the gene mutated in most people with aniridia, I have just retired from the Medical Research Council Human Genetics Unit at Edinburgh University.
It is not easy to relinquish the research scientist role, that has defined me for 35 years in the same unit. Of course, I knew this milestone was approaching and wanted to soften the withdrawal symptoms, by seeking new roles that I would enjoy and where I could use some of my knowledge, and draw on the many contacts that I made over the years.
For example, we have collaborated with many ophthalmologists who work intensively to help people with aniridia. I was therefore delighted, and not at all hesitant to accept when trustees Liz and Katie asked me to consider becoming Patron of Aniridia Network. I had met Katie and a few other members in 2010 when they attended a small meeting on aniridia that I organised in Edinburgh.
I was born in Hungary and came to the UK with my parents when I was eleven in 1958. So I have had most of my education in this country: a comprehensive school in Leicestershire and a bachelor’s degree in Natural Sciences in Cambridge (specialising in genetics in my final year)
Then I did a Master of Science degree at Northwestern University in Illinois, USA, where my husband, Simon, began a postdoctoral fellowship very soon after our marriage in 1968.
I ended up doing a PhD in Oxford on early human gene mapping. This was all a long time before the Human Genome project was possible, but it set the scene for my future interests.
In 1974 after my PhD we moved to Edinburgh where Simon was appointed a University Lecturer in Biochemistry. I was lucky enough to have a Beit Memorial fellowship which I could take with me anywhere in the UK. Another piece of good fortune was that I landed in a very well-known lab that was one of the earliest to do DNA work.
In mid-1975 our first child was born, followed by his sister at the end of 1976.
In 1977 I embarked on my research career in the Medical Research Council.
On retirement in 2012, I was appointed an Honorary Professor at University College London, and was attached to the Institute of Ophthalmology where I continue to work with colleagues on eye genetic eye disease, but no longer running a lab of my own.
I have been fortunate to have had a number of honours bestowed on me. I am a:
- Fellow of the Royal Society of Edinburgh,
- Fellow of the Academy of Medical Sciences
- Fellow of the Royal Society
- Member of the European Molecular Biology Organisation (EMBO)
Finally, in 2010 I was made a CBE for services to science.
History of our work on aniridia
In 1983, my colleague Nick Hastie and I set out to look for the genes implicated in WAGR syndrome, which includes Wilms tumour and aniridia. When these two distinct diseases occur together there is a chromosomal deletion involved, taking out the two neighbouring genes on one copy of the chromosome. Nick and I contributed substantially to the international effort to map and identify these genes, at a time when this was a much harder and slower task than it is now, with detailed human genome information available.
Since these genes, WT1 and PAX6, were isolated, around 1990, we have devoted much of our research effort to understanding how they work. Nick’s group has focussed on WT1 and we worked on PAX6.
We were first to demonstrate PAX6 mutations in aniridia and to show that the gene is turned on and “expressed” in each layer of the developing eye: in the retina, lens and cornea, which explains why all these components of the eye are affected when one copy of the PAX6 gene is not working.
We also showed that a mouse, first described in Edinburgh as the ‘Small eye’ mouse, carries PAX6 mutations too. This means that we can study many of the effects of PAX6 mutation in a small laboratory mammal since it is not possible to get eye tissue from people.
We have also learnt a lot from intensive study of human aniridia cases. We maintain a public database of human PAX6 mutations.
PAX6 is now known to be critical for eye and brain development. However mutation in one copy of the gene affects mainly the eye, leading to congenital aniridia. We have studied PAX6 in great detail, showing that this gene plays a role in controlling other genes during development and also later on in maintaining adult cells.
What I can offer as Patron
Interactions with clinicians
Through my work I have contacts around the world with many ophthalmologists and clinical geneticists. Now, as Patron, one of my major tasks will be to introduce some of these people to Aniridia Network so you will have opportunities to meet them, hear about their work and ask detailed questions in public and private situations.
A few, with different relevant expertise, will be invited to join us as Medical Advisers.
The scientists, who now run official PAX6 mutation analysis for the UK at the Wessex Regional Genetics Lab, were also long-standing collaborators.
Access to relevant institutions
I am familiar with:
- The Academy of Medical Sciences which includes both academic clinicians (those involved in serious research) and non-clinical scientists.
- People at Genetic Alliance UK
- key figures in Aniridia Foundation International including the founder Jill ophthalmologist Medical Advisor Peter Netland.
- Rosa the President of Aniridia Europe.
Experience of committees
I have experience of leadership and flying the flag from:
- giving evidence to Parliamentary Science and Technology committees
- being a member of the Human Genetics Commission for six years from its inception.
- serving a term as President of the European Society of Human Genetics and subsequently of the Genetics Society.
Though I am not hugely experienced in discussing science in public, I have had training and I have participated in perhaps half a dozen radio programmes and a few newspaper interviews. This is an area that I expect to develop further as the role of Patron demands.