2nd MECP2 Duplication Syndrome Family Conference

The 2nd MECP2 Duplication Syndrome Family Conference will be held in Houston, Texas, March 27-29, 2013.  To download a conference brochure, use this link: 2013 Houston MECP2 Conference Brochure   [Click on this link to download Conference Brochure]. The conference will be held at the Hilton Plaza Medical Center Hotel:

Families Raise Awareness and Cash for Research

Families of children with MECP2 Duplication Syndrome and their families have banded together to raise public and professional awareness of the condition, support families,  and to raise money for  critical research.

Here are a few examples of recent news coverage on their activities.

Flemington tricky tray raises $11,190 for MECP2 Duplication Syndrome

Londonderry Township boy inspires ‘ultramarathon’ athlete, who raises money for van

Blake McMillan Trust receive £350 from youngsters

Major Breakthrough on Understanding Infections & MECP2 Duplication

The cover story in this weeks Science Translational Medicine reports on a new study that provides knowledge that is a critical first step in understanding the immune deficiency among individuals with MECP2 Duplication. Researchers found that both children and adults with the syndrome and lab mice with MECP2 Duplications lacked the ability to produce gamma interferon from specific T cells.

Australian Broadcasting Corporation MECP2 Segment

23 November 2012 The Australian Broadcasting Corporation MECP2 aired a great segment on MECP 2 Duplication Syndrome featuring the Holland Family and the Wright family. It is available on-line at this link. The segment has sparked a lot of interest in the condition. Concurrently  with this broadcast the new Van Wright Foundation website on MECP2 Duplication Syndrome was also launched.

UK Conference

11 May 2013 – 9.30 to 4.00

Greater Manchester Police Sports and Social Club, The Hough End Centre. Mauldeth Road West. Chorlton. Manchester. M21 7SX

Cost of the event is £25 per adult and all children are free. This includes a hot buffet lunch and tea/coffee. Snacks/drinks will be provided for all children.
Booking forms and a programme will be available early in the New year.

Professor Jill Clayton-Smith (Geneticist) will give a presentation on MECP2 Duplication Syndrome and offer support to individual families.
Tobii Eye-Gaze will offer every affected child a communication eye-gaze trial. This will be ongoing throughout the day.
Clifford Challenger from Epilepsy Action (service manager in the north east) will give a presentation and offer advise to families.
Nordoff Robbins will involve all children/young adults and family members in a Music Therapy Session.

 

for more infor,sgiom, contsct rhonaconnelly1@aol.com

Partial Duplication of MECP2 Gene

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3′ untranslated region in the MECP2 duplication phenotype

Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski and Sau Wai Cheung

 BMC Medical Genetics 2012, 13:71 doi:10.1186/1471-2350-13-71

A new report published in BMC Medical Genetics describes a family including a father and daughter with a small Xq28 duplication including part of the MECP2 gene. This report includes several interesting findings.

2013 MECP2 Duplication Syndrome Family Conference Survey

If you are hoping to attend the 2013 MECP2 Duplication Syndrome Family Conference in Houston, please fill out this short 4-question survey to assist the conference committee in planning. CLICK HERE FOR SURVEY

We need to get an approximate idea of attendance to ensure a good fit of facilities, so just let us know what you are currently thinking you might be doing, even if you haven’t made any final decision.

 

German Research on Pneumonia and Xq28 Duplication

Researchers at the Department of Pediatric Pulmonology and Immunology of the Charite in Berlin are currently undertaking a study of respiratory infections in individuals with MECP2 Duplication Syndrome. These researchers hope to determine the role of MECP2  and other duplicated genes in increased vulnerability. Their research is aimed at trying to determine if an extreme inflammatory response contributes to these infections and what causes these extreme inflammatory response in many individuals with MECP2 Duplication Syndrome.

Save These Dates

- – - – 27 – 29 March 2013 – - – -

These have now been confirmed for the next MECP2 Family Conference to be held in Houston, Texas.

March 27-29, 2013

More details to follow.…

Nederlandstalige website

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