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Tag Archives: genetics
Karsu’s story – The beginning of our aniridia journey
When your child has a rare condition, knowing that you are not alone makes a real difference. Seeing that another mother or father once asked the same questions you are asking today reminds you that your child’s future is about much more than medical reports and test results. Continue reading
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
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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Screening embryos for aniridia available in UK
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
Posted in Medical staff talking, Other agencies
Tagged Genetic Alliance UK, genetics, HEFA, PGD
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