A surprise phone-call

It's all just too muchI don’t know where to start.

We’re all excited having just spent well over an hour on the phone with Professor Yanick Crow. Based in the UK, Prof Crow is the person who, a couple of years ago, discovered the four genes responsible for Aicardi Goutieres Syndrome (AGS). He has in the last 10 years devoted his career to researching this disease.

He now suspects that there may be two additional genes capable of causing AGS. In addition he has been researching the pathology of the disease i.e. understanding how the disease “works”. It sounds like he has been making huge progress and one day there could be treatments (although we’re under no illusions that these may come too late for Joseph).

I must admit to being a bit starstruck when he first rang and I found myself fumbling for questions and things to say so, if you’re reading Prof Crow, I apologize if I rambled on a bit!

So for those of you who are interested here’s the key points that I can remember:

Disclaimer: I feel nervous that I may have got some of the facts wrong as there was a lot of information to digest, so take everything that follows with a pinch of salt.

  • AGS is not as rare as reported – it is simply under diagnosed: he knows of at least 250 cases world-wide and there are new cases being discovered all the time. Why is it under diagnosed? Firstly, the genes have only recently been discovered – only a couple of years worth of children have been diagnosed. Secondly, many cases are misdiagnosed as being caused by viral infections in the mother during pregnancy (e.g. rubella, toxoplasmosis). Finally, there are very few places where AGS is tested – in particular, there is no genetic testing in the US.
  • There is a lot in common between AGS and the auto-immune illness Lupus (I think this is the right form). This has interesting implications for research since it means that resources, funding, and knowledge can be shared and faster progress achieved.
  • For the milder forms of AGS, the latest theory is that the child’s brain and nervous system is damaged early on in their life when the child is most irritable and levels of interferon-alpha are raised. This damage is permanent but remains stable afterwards, so the child continues to grow.
  • The current hope for a treatment is to target the immune system using drugs so that it does not attack the rest of the body. This is difficult because you can’t simply switch off the immune system since the child will then be incapable of fending off any infections. The treatment has to switch off only a very small part of the immune system with no critical side-effects.
  • Funding for research into AGS is hard to come by. Progress has improved since the links with Lupus were found (Lupus receives much more funding as it is more common and well-known). However, more funding is required.
  • Prof Crow works and liaises on a regular basis with a long list of  medical and research experts, from neurologists to immunologists, throughout the World in an effort to understand as much as possible about AGS and to find a treatment and ultimately, a cure.

Happy DinerProf Crow came across as a really nice gentle person and thoroughly devoted to AGS research. We are indebted to him for spending well over an hour talking to us. Hopefully, later this year we’ll get a chance to travel to the UK and visit him in person (he is based in Manchester now).

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