Tag Archives: PAX6

Exploring PAX6 related gene regulatory networks & its role in the developing brain

Talk by Samuel Heczko & Dr. Wai Kit (Calvin) Chan, University of Edinburgh at Conference 2025 We all come from a single cell. But how does this cell know when and how to divide into a brain? And how does … Continue reading

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How PAX6 gene deficiency affects your body

Talk by Professor Moosajee, Moorfields Eye Hospital at Conference 2025 It is now accepted that reduced PAX6, caused by genetic changes involving the gene, does not just affect the eye (causing aniridia) but has an impact on many other organs … Continue reading

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Retinal detachments in Aniridia research at Moorfields

Vivienne Kit is an Ophthalmology Researcher at UCL Institute of Ophthalmology. In addition to her clinical duties, she is pursuing a postgraduate research degree in aniridia under the supervision of Professor Mariya Moosajee. In 2021, Vivienne and her team published … Continue reading

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Progress on developing eyedrops to treat aniridia-associated keratopathy

Professor Martin Collinson is based at The Institute of Medical Sciences in the University of Aberdeen, and has been working on the roles of the PAX6 gene in eye development and adult life for over 25 years. He enjoys opportunities to … Continue reading

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The diverse functions of PAX6: How Veronica grew our understanding

Our Patron Veronica van Heyningen worked at the Medical Research Council for more than 35 years. In that time she and her colleagues in Edinburgh did pinoneering work to undertand the PAX6 gene. They were identified it as the gene … Continue reading

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Testing if drugs can improve cornea regeneration

By researcher Martin Collinson Aniridia, caused by mutation in the so-called eye ‘master regulator gene’, PAX6, can impact on vision in several ways. In addition to the absence or near-absence of the iris, people with aniridia are at high risk … Continue reading

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Funding for aniridia drug research in Aberdeen

The charity Fight for Sight is funding scientists at the University of Aberdeen to test two drugs for the treatment aniridia. The team will determine whether taking either of the drugs by mouth or as eye drops can restore levels … Continue reading

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Research into aniridia symptoms link to genetics

Research has begun into whether the severity of aniridia can be linked to variations in genetics. The scientists need patients to take part. Dr Moosajee has been given money from the UCL Therapeutic Acceleration Award to document the medical history of … Continue reading

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£200,000 aniridia drug research, based and funded in the UK underway

Research into the growth of eyes with aniridia has begun, funded by Aniridia Network and two families in the UK. In 2018, for the first time, Aniridia Network excitedly partnered with Fight for Sight to offer a £15,000 grant for … Continue reading

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PAX6 and the Cornea: An Eye to the Future

One of the speakers at this year’s conference was Thanos Papadimitropoulos from University of Liverpool. He told us about his team’s research, funded by Fight for Sight, into a potential new therapy that may one day be able to slow down or … Continue reading

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