Gluten Free? Genetic testing one step closer

A new genetic risk factor for celiac disease has been found, and the researchers believe it could lead to improved diagnostics and treatment.

People with celiac disease (coeliac disease) do not have a protective DNA sequence in a particular gene region – people without celiac disease do have this. The researchers say that this DNA sequence leads to the production of proteins which control inflammation – without this sequence, there would be fewer anti-inflammatory proteins.

This study was headed by David van Heel, Professor of Gastrointestinal Genetics at Queen Mary, University of London, and was funded by Coeliac UK and the Wellcome Trust.

This is a great finding – but it will take a long time for this to filter through to improved diagnostics and treatment, as it always does. Still … bring it on! It would be great to know who else in a family group has the genetic deficiency, and even better if there were treatment available.

Watch this space.

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Lucy is the mother of a coeliac, and has been managing a gluten free diet for her daughter for 20 years - though, to be fair, she does do most of it herself now...

3 thoughts on “Gluten Free? Genetic testing one step closer”

  1. I really want to have this genetic test done! The idea of having to eat gluten to prove coeliacs (for 6 weeks) is a horrible one! I have seen that it is available in the US so perhaps that is an avenue worth going down

  2. lets hope genetic testing for coeliac becomes available on the NHS 8years ago after a hospital appointment at ther rectal/colon dept.I was told I almost certainly had coeliac,to go on a strict gluten free diet and my symptoms would gradually improve and they would pass me along to the gastroenterology dept.a letter arrived stating the waiting list was a long one my appointment was several months away,by that time I was feeling considerable better you guessed it the endoscopy Was negative I was asked by the consultant to go back onto gluten for 6weeks and then be subjected t o another endoscopy I refused and was told it would be in my long term best interest as I couldn’t be registered coeliac and get free prescriptionsfor gluten free food if I didn’t have a positive endoscopy result,after almost 3 weeks I felt so ill with symptoms that I called the hospital and said I couldn’t carry-on eating gluten one more day, as I was suffering such bad symptoms I was called in immediatelyfor my second endoscopy this also came back negative, the consultan said I hadn’t stayed on gluten long enough to get a positive result. I have been on my own ever since. 8 years on and a strict gluten free diet as worked wonders I feel 20 years younger.

  3. As Bryony said, I think it is typically 6 weeks before damage can be seen by endoscopy. Though I gather people – like Jean! – often report ill effects long before that.

    Jean, it would be good to have a positive diagnosis, but at least you know what works for you to stay healthy!

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