Tag Archives: genetics

How PAX6 gene deficiency affects your body

Posted on Dec 1, 2025 by Aniridia Network

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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The diverse functions of PAX6: How Veronica grew our understanding

Posted on Apr 24, 2023 by Aniridia Network

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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Research into aniridia symptoms link to genetics

Posted on Jul 2, 2019 by Aniridia Network

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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Screening embryos for aniridia available in UK

Posted on May 23, 2015 by Aniridia Network

It is now possible to avoid passing on aniridia to children using a procedure called pre-implantation genetic diagnosis (PGD) How did PGD become available for aniridia in the UK? The Human Fertilisation & Embryology Authority (HFEA) maintains a list of … Continue reading →

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