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Tag Archives: PAX6
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
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
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
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
Posted in Research
Tagged genetics, Mariya Moosajee, Moorfields, PAX6, UCL Institute of Opthalmology
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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
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
Cure for aniridia under spotlight
A new study has suggested potential eyedrop therapy for aniridia. Is the hype justified and what are the details? Aniridia is a genetic abnormality caused by mutations in the so-called ‘Master Regulator’ gene for eye development, PAX6. Because PAX6 is … Continue reading
Posted in Medical staff talking, Research
Tagged ataluren, Martin Collinson, PAX6, ribosome, Sharon Stewart Aniridia Trust
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Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
Purpose: To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia. Methods: A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) … Continue reading
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