Category Archives: Science

Parent Survey on the Use of Cannabidiol in Intractable Epilepsy

NEW3While there  has been a lot of popular discussion of treating seizures with Cannabidiol, there have been few published studies of the results in children with seizure disorders. A study published in December 2013 in the journal Epilepsy and Behavior provides some encouraging information. While the study only surveyed a small number of participants and depended on parent perceptions rather than objectively measured data, the results were positive. Continue reading

Regression: Is it inevitable?

strEarlier this year a brief article was published on regression in MECP2 Duplication Syndrome in the Journal of Autism and Developmental Disorders.

 Peters, S.U., Hundley, R.J., Wilson, A.K., Carvalho, C.M.B.,  Lupski, J.R., & Ramocki, M.B. (2013). Brief Report: Regression Timing and Associated Features in MECP2 Duplication Syndrome. Journal of Autism and Developmental Disorders, Published online, 2 March 2013. Continue reading

MECP2 Duplication Syndrome Conference Poll

RETT Syndrome Conference

26 -29 June 2014

Washington, DC, USA

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 attending such 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. Continue reading

Lupus and MECP2

Systemic lupus erythematosus (SLE) CAUTION2is 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

Varying MECP2 Gene Structures and Duplication Severity

questionWell, I can’t really call this a theory or even a hypothesis… It is, however, a thought.

Clearly, some individuals with MECP2 Duplications are more severely affected than others and we really don’t know why. We do know a few things: Continue reading

Getting Started with The Database

checkboxThose 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.

To get started you can go to Go to interrett.org.au

Continue reading

2nd MECP2 Duplication Syndrome Family Conference

2nd MECP2The 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

5hmC and A new role for MECP2?

cell5-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

Bone Density, Osteopenia, Osteoporosis, and Fractures: Part 1

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

AKA MECP2 Duplication Syndrome

CAUTION2Over 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