Skin in the game – participation in aniridia research

Sarah tells how her skin sample is helping research into aniridia, and yours can too.

Having a rare eye condition can seem like a disadvantage a lot of the time, but there are times when you get an exciting opportunity to do something that very few others can.

Over the years I have participated in several research projects:

  • retina scans
  • giving blood samples (I think I’m up to nearly half a dozen now)
  • having my brain scanned in a MRI scanner twice.

All this on top of being the usual object of curiosity of medical students during hospital appointments. It’s always fun being an expert in something that dumbfounds others!

2 women and a man in a lab wearing white lab coatsI was recently contacted by Professor Jane Sowden, who is conducting research into stem cells. She and PhD student Lisa Hentschel and Dr Jorn Lakowski are part of the team undertaking this research at the UCL Institute of Child Health supported by Great Ormond Street Hospital Children’s Charity (GOSHCC).

They are growing a specific type of stem cell in the lab using samples from several volunteers with aniridia, caused by the PAX6 gene.

Stem cells have to be taken from the person’s skin in a biopsy and then ‘re-programmed’ to become “induced pluripotent stem cells”; (iPSC). These are then grown in the lab with special growth factors, so that they form eye cells. The researchers will grow retina cells and aim to better understand which cells are altered when the PAX6 gene is not working properly.

My reaction to these requests has always been that I am relatively lucky in that although my vision is not great, I can lead a relatively independent life. I am at least a third generation aniridic. My grandfather’s understanding of his condition was limited – we think he was the sporadic case. Even with today’s medical knowledge, it may be very disconcerting for a family to have a child with aniridia, where there is no previous history. So any small thing I can do to help build knowledge and understanding of the condition is a small sacrifice for me, with potentially a great gain for others. It was with this in mind that I agreed to participate in the research and donate a skin sample.

Although medical procedures are not my favourite thing to do at the weekend, I arranged an appointment for the biopsy at Great Ormond Street Hospital.

The medical and research staff there were very helpful and put me at my ease. It even  emerged that we all had a connection with my home town. Everyone made sure I was comfortable and explained what was going to happen.They also took down my medical background.

They were quite excited, as although we were in a basement, it  was part of the modern clinical research facility and a step up from their usual accommodation.

After a briefing, I had a shot of local anaesthetic, which is never a pleasure, but was done skilfully and quickly. The sample taking was quite quick. I was in and out in under an hour.

As with any research study the outcomes are not going to be known for some time, but one advantage of being one of the participants is that you do get to hear about the results quite soon after they are available. That this will not be for a few years yet.

Using the cells donated by volunteers by me and others with aniridia, the researchers will be able to analyse human retinal cells with altered PAX6 genes for the first time which will help us to better understand the condition.

Getting involved in a research project is a great way to find out what goes on behind the scenes of the usual check-up appointments and after you have played your part you leave with a pleasant fuzzy feeling of achievement. It’s great to be involved in taking a step forward in understanding what aniridia is and how it’s effects

It is exciting that the researcher will be at the ANUK Meeting 2016 to discuss their work with anyone who wants to know more.

If you want take part in the research too, fill in this form and we’ll pass on your details to the team.




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.
This entry was posted in Patients' tales, Research and tagged , , , , . Bookmark the permalink.

1 Response to Skin in the game – participation in aniridia research

  1. Kelly Trout says:

    Thank you so much, Sarah, for taking the time and making the effort to participate in this research. I think many people/families with children with aniridia or WAGR syndrome don’t realize that these are both RARE disorders. Which means that there’s far less research than there is for common conditions, and there’s a far smaller population of patients as well.

    So we can’t leave it up to “somebody else” to participate — there are too few of us. If we want there to be hope for the future, every one of us needs to make the effort. Thanks for showing us that it really is do-able, and it really will make a difference!

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