Op de Nederlandstalige website www.mecp2.nl vindt u informatie zoals symptomen, specialisten en nieuws over het MECP2 Duplicatie Syndroom. Deze relatief zeldzame aandoening komt in tegenstelling tot het Rett Syndroom voornamelijk voor bij jongens en wordt gekenmerkt door een ernstige tot zeer ernstige ontwikkelingsachterstand, hypotonie (lage spierspanning) en frequente (luchtweg-) infecties. Ook voor een complete lijst met relevante wetenschappelijke artikelen bezoekt u www.mecp2.nl Continue reading
Here is a truly great resource. From Unique in the UK. The Unique organization describes themselves as follows: Continue reading
Last week there was a conference call that involved Physician and researcher Melissa Ramocki, Monica Coenraads from the Rett Syndrome Research Trust, and about 35 parents of children and adults with MECP2 Duplication Syndrome. The call includes a great summary of some of the current research. In spite of some extra noise in the recording it is well worth listening to. It is expected to be available on this link for another few weeks.
As more boys and girls are being diagnosed, thee has been a growing world interest in MECP2 Duplication Syndrome. The 401 Project and other fundraising efforts have also helped to raise awareness. Following site statistics for this MECP2 Duplication Syndrome Blog really indicates a great deal of world wide interest. Here is a graph that indicates where Google searches were initiated that led people to this site.
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Just a quick note to indicate that the information on the MECP2 Duplication Syndrome Family Talk FaceBook Group has been updated. Family members of individuals with MECP2 Duplication Syndrome are encouraged to consider joining the group.
AT the recent Manchester meeting, Professor Jill Clayton-Smith gave an excellent review of MECP2 Duplication Syndrome that is available on video. It is include below in two parts. There is some background noise, but overall great resources. Continue reading
There is a brand new Facebook group for families of children or adults with MECP Syndrome in the United Kingdom. The UK MECP2 Duplication Syndrome Support Group was started to link the growing number of affected families in the UK. Continue reading
The WordPress.com stats helper monkeys prepared a 2011 annual report for this blog.
Here’s an excerpt:
The concert hall at the Syndey Opera House holds 2,700 people. This blog was viewed about 8,500 times in 2011. If it were a concert at Sydney Opera House, it would take about 3 sold-out performances for that many people to see it.
Click here to see the complete report.
Most people who read this blog will already been very familiar with Pam Albert’s MECP2 Duplication Syndrome website. For those who are not familiar with it, it is a great resource for families and anyone else interested in the syndrome. It has a lot of great information, including individual information on many of the individuals affected and their families.
This video highlights the contribution of Penn State students’ work to the development of the Website.
For more information on the MECP2 Consortium and how the Rett Syndrome Research Trust is approaching MECP2 Duplication Syndrome, see MECP2 Consortium and MECP2 Duplication Syndrome. Also, for a limited time you can listen to the October 5, 2011 conference call between Monica Coenraads, Executive Director of the Rett Syndrome Research Trust, and parents of children with MECP2 Duplication Syndrome. (This link will only be available until approximately October 19, 2011)