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what is angelman syndrome?

Angelman is a rare syndrome which effects around 1 in 15,000 people and is caused by a deletion or mutation on chromosome 15.  If you believe every Marvel comic or X-Man movie you might think that a genetic mutation or deletion would inevitably result in superpowers and ravishing good looks.  As is clear from the pictures of me on this site Hollywood only got it half right (the ravishing good looks part).

Sad to say that in the case of Angelman the deletion/mutation causes a lack of funtion in one specific gene, being UBE3A.  This results in a severe neurodevelopmental disorder.  Although there is a spectrum of outcomes, Angelman children such as myself can be difficult to live with and will generally need life long care at some level (and thats not life long care a la the movies, with some sexy nurse in a mansion in the country...its parents, siblings, friends etc. all pitching in for what can be very difficult  and trying work).

Hope on a Rope.

There is hope however....the boffins and braniacs with their fancy lab coats and fancier words think they might be able to cure Angelman.  And why would they think such a thing?  Well without going into the technical details, the Frankensteins have engineerer a mouse with Angelman and are able to cure it. 

Now a mouse and human are clearly different beasts, but there are some seriously smart people working on this and they have some ideas which may lead to a restoration of function of the gene UBE3A in humans (and not the type of crazy ideas that you and I might have, which would inevitably involve some sort of human mouse hybird, but these are practical and realistic ideas).  The big thing they need is money...there was only $500,000 spent on Angelman research in 2010 (as opposed to $529m on Alzheimers!).  If they have about $30million they believe they could make the break throughs required to come up with a cure.

Fun Facts About Angelman Syndrome.

  1.  If we got just a misely 1.5% of what is going to be spend on campaigning in next years US Presidental elections we could find a cure for Angelman.
  2.  Colin Farrell's son has Angelman Syndrome
  3.  I have Anglem Syndrome, and although my Dad is Irish, he is not nearly as handsome as Colin Farrell (but not unlike Farrell's character in Intermission he does abuse a Chef based product (kethcup))
  4.  In 2010 less than $500,000 was spend on Angelman Syndrome Research compared to $218 million spent on Autism research and $529 million spent on Alzheimer's disease.  Details here: http://www.report.nih.gov/rcdc/categories/
  5.  Scientists know exactly what is going on in the brains of people with Angelman Syndrom and think they know how to cure it.
  6.  It used to be called Happy Puppet Syndrome (due to the characteristic happy nature of Angelmans and the often jerky/puppet like way they move), but once it was properly diagnosed by Dr. Harry Angelman it was henceforth know as Angelman Syndrome

More Information

  1. Foundation For Angelman Syndrome Therapeutics - Organistion that is leading the way with research for a cure for Angelman.
  2. Angelman Syndrome Foundation - Organisation of families, caregivers and medical professionals who care about those with Angelman Syndrome
  3. The Angelman Syndrome Forum - Very active forum for parents, caregivers and researchers.