This poll was for parents or primary caregivers of individuals with MECP2 Duplication Syndrome. Responses were collected from March 27 through April 5, 2012. The poll is now closed but results can be viewed, here. Continue reading
26 March 2011 Families of children and adults with MECP2 duplication syndrome have been working hard to raise cash to fund research that may lead to effective treatment. One part of their effort is collecting votes in a contest that will award $5,000 toward this research. With just 4 days to the polling deadline, they have a narrow lead, but competition is stiff. If you want to support their effort, follow this link and vote for Alli Holland’s dream.
Pneumonia almost certainly represents the greatest health threat to most individuals with MECP2 Duplication Syndrome. It is the cause of a great deal of illness and loss of life among individuals with MECP2 Duplication Syndrome. Although there are clearly differences among these individuals, as a group, they appear to experience pneumonia more frequently, have more severe symptoms, and respond to treatment more slowly. This blog entry is the first in a series written for families that describes pneumonia, discusses some of the factors that contribute to pneumonia in individuals with MECP2 duplication syndrome, and suggests some possible practical strategies for reducing the risk of respiratory infections and managing pneumonia. Continue reading
The UK MECP2 Duplication Syndrome Support Group is planning a conference for 11 May 2013 at the Hough End Conference Centre. More details will follow on this website. Mark your calendar! For more information, contact firstname.lastname@example.org or mobile 07806470290.
Here is the final cut of the Introduction from the May 2011 MECP2 Family Conference in Houston for anyone who hasn’t seen it. Thanks to Dr. Ramocki, Pam Albert, Dr. Zoghbi, The Blue Bird Circle Rett Center, Baylor College of Medicine, The JP Das Centre at the University of Alberta, and to everyone else who made this conference a great success.
13 March 2012 The Genetics Society of America reported this week on some studies looking at the effects of human genes in Drosophila melanogaster, better known to most of us as fruit flies. Among these reports are a study of MECP2 levels in flies that have MECP2 genes added. MECP2 is not normally present in fruit flies. Sarah Certel, Ph.D., assistant professor of biological sciences at the University of Montana-Missoula found that the extra MECP2 resulted in fragmented sleep, a finding that should not be surprising to those familiar with MECP2 Duplication Syndrome. MECP2 has previously been shown to be critical in the regulation of circadian rhythms which regulate the sleep-wake cycle according to the presence of light.
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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Good News! Congratulations to everyone who participated in the 401 Project! They reached their first goal, raising $80,000 to get research started, and they reached it well ahead of their April 1, 2012 target date They will soon be announcing a new target to further research efforts to better understand and treat MECP2 Duplication Syndrome.
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.
There are two important kinds of research that are needed to help individuals with MECP2 Duplication Syndrome and their families. Basic scientific research is needed to better understand the role of MECP2 and how excess MECP2 activity results in the syndrome. Clinical research is needed to relieve the symptoms of the syndrome and prolong the life of those experiencing its effects.
Of course, one might argue Continue reading