Research into aniridia symptoms link to genetics

Woman wearing a white coats in a laboratory

Dr Mariya Moosajee

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 150-200 Moorfields Eye Hospital aniridia patients. Understanding this will help identify reliable outcome measures for clinical trials, and which patients may be more suitable for certain treatments.

There is a great deal of variability between aniridia patients. Some are severely affected by corneal clouding from childhood requiring corneal grafts, while others maintain clear corneas and good vision into adulthood.

Aniridia can be caused by many different types of defect in the PAX6 gene as well as other genes. Dr Moosajee wants to identify if there is a link between the genetics and the severity of aniridia, plus what would be the best management and treatment for each patient.

For example, she wants to investigate the link between anirdia and diabetes and weight.

The PAX6 gene is thought to be involved in the development of the pancreas during pregnancy, and there have been increased reports of diabetes and obesity amongst aniridia patients.

She will be taking blood from 25 aniridia patients and looking at all the contents of the blood such as fats, sugar, protein, carbohydrates, vitamins. She hopes to find evidence for or against the anecdotes, and potentially identify a way to use blood samples to monitor the effects of taking a drug like ataluren orally.

This project is in addition to Dr Moosajee’s research part-funded by Aniridia Network into the growth of eyes with aniridia and possible drug treatments. She said

“I feel like there is a spotlight on aniridia-related research and I am very grateful for all the funding and support I have received to expand our knowledge boundaries by adding to our understanding of the condition, whilst also supporting therapeutic developments so they reach the patient as soon as possible.”

Dr Moosajee would be very grateful if Aniridia Network members could take part in the studies. She is particularly looking for patients with nonsense mutations in the PAX6 gene.

If you are already a patient at Moorfields she will be in touch with you.

If you are not a patient at Moorfields:

  • If you have a genetic testing result that says you have a nonsense PAX6 mutation, or you are unsure what type it is, contact her at m.moosajee@nhs.net
  • If you have not had a genetic test ask your GP to refer you to Dr Mariya Moosajee, Department of Genetics at Moorfields Eye Hospital, and she can arrange it.

Dr Moosajee sits on the scientific committee for the European Aniridia Conference 2020 taking place in London. She is looking forward to giving us an update about all the great research she is undertaking at that event.

Man pointing at projection showing a large eye

 

 

About Aniridia Network

A charity support group for people with the genetic visual impairment aniridia and their families in the UK and Ireland. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. First registered as a charity in 2011 and fully in 2018.
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