Many families of individuals with MECP2 Duplication Syndrome have received a poll from Pam Albert regarding the possibility of having a MECP2 Duplication Syndrome Conference in conjunction with the Rett Syndrome Conference in June of 2014. If you did not receive this survey and would consider attendingsuch a conference, please fill out the following survey. We need your input to determine if we can make this work.
Please respond to this poll below only if you have not already responded to the poll by e-mail.
We are excited to tell you about the upcoming Rett/ MECP2 Duplication family conference. The conference is set to be June 26-28th, 2014 for the family meeting. The conference will be held in the Washington, D.C. area; a venue has yet to be confirmed. This will be held in conjunction with the International Rett Syndrome Foundation’s annual meeting and the registration fee is anticipated to be $200 (inclusive of meals).
We are sending out this announcement so that you all can mark your calendars, and we are also trying to get a preliminary head-count of those who wish to attend.
If any parent is interested in serving on a planning committee, please contact either Pam Albert or Sarika Peters as soon as possible.
Thank you all for your time and help, and your continued dedication. If you have any questions or would like to volunteer, please do not hesitate to contact us.
Systemic lupus erythematosus (SLE) is an autoimmune disease that most frequently affects women between the ages of 15 and 35 but can affect both males and females of any age. It can be severe and life-threatening with periods of acute illness and remission.
Recent studies have suggested that the MECP2 gene the neighboring IRAK1 gene play a role in Lupus Continue reading →
Those of you who were at the Houston Conference heard exciting news about the development of an international database on MECP2 Duplications. Whether or not you were in Houston for the conference, this is an opportunity to participate in an exciting project. Registering your child in the database is something that you can do to help move research along. It’s free, easy, and you can do it right now. The sooner we get our boys and girls registered, the faster the project will move toward benefiting our loved ones.
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: Continue reading →
5-hydroxymethylcytosine (5hmC) is a substance found in many cells and particularly in the brain cells. Although there is much that remains unknown about it, it has been receiving a lot of attention from researchers because of its apparent pole in epigenetics. Epigenetics refers to the process by which gene expression is modified by non-genetic factors, such as external environmental influences. For example, our DNA may determine the likelihood that we we will develop high blood pressure later in life, but this can be modified by a lack of an adequate diet in childhood or even our during our mother’s pregnancy. Our DNA is not altered but some genes may be “turned up” and others “turned down” by our other factors. Exactly how these processes work is currently a major research area for many researchers, and some researchers believe that 5hmC may be an important piece of the puzzle. Continue reading →
This entry starts a short series on bone density and risk of fractures in children and adults with MECP2 Duplication Syndrome. May be a good place to start is to say that bone density issues are not well recognized as a characteristic of MECP2 Duplication Syndrome. Nevertheless there are a number of reasons to suspect that bone density issues and fractures are special concerns for individuals with MECP2 Duplication Syndrome.
First, in May 2011, when families got together in Houston for the first MECP2 Duplication Syndrome Family Conference, Continue reading →
Over the years, MECP2 Duplication Syndrome has been also know as (AKA) a number of other names. Some of these might be considered to be exact duplicates. Others are overlapping categories. Here is a short (and likely incomplete) list of names, posted here for two reasons. (1) this may help families or other interested people to find this website if they have been given one of the other names. (2) If anyone is searching for information regarding MECP2 Duplication Syndrome, they may have better results if they use a number of these search terms. Continue reading →
Something very unusual appears to be happening related to the birth of some babies with MECP2 Duplication Syndrome. Some mothers report that there babies with MECP2 Duplication Syndrome were premature, but a number of others say that their child was born full-term on or near the expected due date but that a pediatrician or neonatologist who examined their baby right after birth told them that they were mistaken and physical examination made it certain that their babies were premature. Continue reading →
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.
This blog is intended for families, researchers, and professionals interested in better lives for children and adults with MECP2 Duplication Syndrome.
Pam Albert's MECP2 Duplication Syndrome Website provides a great deal of useful information for families and profiles of many of the current children and adults diagnosed with this condition.
Facebook users who are members of families if individuals with MECP2 Duplication syndrome may wish to join the Facebook MECP2 Duplication Syndrome Family Talk Group for discussions of family matters.
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MECP2 Duplication Syndrome Fund
Click here for information on Donations to the Rett Syndrome Research Trust's MECP2 Duplication Syndrome Fund