Stem cell research and treatment for aniridia presentation

Session at Aniridia Network UK Conference 2014

Introducing Cells For Sight

By: Dr Alex Shortt PhD FRCOphth

Cells For Sight: Stem cell research and therapeutic manufacturingThe Cells for Sight Transplantation and Research Programme. is a group of scientists and clinicians who work together at Moorfields Eye Hospital and the UCL Institute of Ophthalmology. The aim of the group is to develop new treatment for patients with blinding corneal diseases. The group is led by Professor Julie Daniels PhD and the clinical work of the group is led by Dr Shortt. In this session Dr Shortt outline the challenges that arise in treating cataracts and corneal disease in patients with aniridia. He also discussed recent advances that offer new hope to patients.

Developing a human model for aniridia related keratopathy

By: Dr Victoria Tovell PhD

Understanding how a disease progresses is the first step towards identifying potential treatment strategies.  In order to do this we ideally need a ‘model’ of the disease we are looking at. Generally animal models are used to look at disease progression to gain a better understanding of what is happening in vivo.

Victoria in her labIndeed scientists have developed a mouse model of aniridia by generating mice that are deficient of the PAX6 gene. These mice display characteristics similar to human aniridia and can therefore be used to investigate the role of the PAX6 gene in the progression of aniridia. However, differences between species mean that we cannot rely solely on data from PAX6 deficient mice. Dr Victoria Tovell therefore is looking into developing a human model of aniridia.

In their lab they can grow the different types of corneal cells from human donor corneas and use these cells along with tissue-engineering techniques to build a human cornea. Dr Tovell’s project aims to turn the healthy corneal cells that they grow into aniridic cells by deleting the PAX6 gene and then using these cells to make a tissue engineered human model of aniridia. This will enable them to study how human corneal cells behave when PAX6 is deleted and might provide some insight into potential treatment ideas. In this session, Dr Tovell talked about her progress with this project so far and the next steps she will be taking.

Stem cell treatment of aniridia related corneal disease

By: Dr Alex Shortt PhD FRCOphth

There are many different types of stem cells each with their own benefits and drawbacks. Stem cells taken from donor corneas or from the donors own mouth have been used to treat severe corneal disease in patients with aniridia. In this talk Dr Shortt gave an overview of what a stem cell is and what has been achieved so far in the treatment of aniridia.

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About Aniridia Network UK

A charity support group for people with the genetic visual impairment aniridia and their families in the UK. Our vision is that people with/associated with aniridia are hopeful, confident, supported and well informed regarding aniridia. Founded in 2000. Registered as a charity in 2011 with HMRC reference XT26830
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2 Responses to Stem cell research and treatment for aniridia presentation

  1. Pingback: Researchers sell cakes to raise £115 in aid of ANUK | Aniridia Network UK

  2. Pingback: Thousands raised for aniridia research and support | Aniridia Network UK

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