Tag Archives: Research

The Natural History Study

strFamilies of children and adults with MECP2 duplication syndrome should register with the Rett Consortium studying Rett Syndrome, MECP2 Duplication Syndrome, and Rett-Related Disorders. Registration is quick and easy… and you can REGISTER ON-LINE HERE.

More details are also available on that page, but here are some good reasons to register for this project:

  1. Signing up with the contact registry ensures that you will be kept informed of the latest developments.
  2. By participating in research that can help all affected children, families support research efforts that have the potential to help us all.
  3. Signing up for the contact registry does not obligate families to visit the research sites or participate in studies, you can determine whether or how you want to participate later,
  4. Registering with the project lets the researchers know that families care about their efforts and that research on individuals with MECP2 Duplication Syndrome is possible in spite of the small number of affected individuals.
  5. Registering helps researchers recognize where potential research participants are located and may make possible participation at new locations in the future.

Encouraging Research on Rett Syndrome

flaskResearchers at Cold Spring Harbor Laboratory have published encouraging results further demonstrating that at least some symptoms of Rett syndrome can be reversed in Rett lab mice. Previous research demonstrated that if MECP2 protein levels could be normalized, symptoms could be reduced or potentially eliminated. In this study, researchers identified a class of potential medicines that significantly reduced symptoms.

While this result is not directly applicable to MECP2 duplication syndrome, it does provide further support in principle for the line of research looking for classes of drugs to regulate MECP2 activity.

Susceptability to Influenza in MECP2 Duplication

mouseRespiratory infections are a major challenge for individuals with MECP2 Duplication Syndrome. They are a major source of illness and are frequently life threatening. Most of the focus on studying these infections has focused on bacterial pneumonia. A recent study, however, looked at the effects of influenza A, a virus, on MECP2 Duplication laboratory mice. Continue reading

Research Participants Wanted

The following research study is being conducted at Vanderbilt University in Nashville, TN. Please consider this opportunity for your child to participate.

MECP2 Related Syndromes:

Research Opportunity

Auditory Assessment of Language and Learning

Vocabulary Assessment

We will use the Peabody Picture Vocabulary Test (IV addition) to assess your child’s current language level. This test was chosen because it does not require a verbal response.

Auditory Processing* – Language and Learning

Your child will listen to several different “sets” of words and nonwords, and to a “set” of names (some familiar to them). This task only requires your child to sit and listen while wearing modified EEG electrodes. These electrodes are part of a cap that is placed on the child’s head. The cap uses salt water to transfer brainwaves and is very easy to place on the child’s head and remove.

We are recruiting, 15 patients with genetically confirmed RTT, 15 with genetically confirmed MECP2 duplication syndrome, and 30 typically developing children (for comparison). Participants will need to be between the ages of 4 and 12 years old.

*Because of the auditory tasks, we will conduct a quick hearing screen on each participant.

If you are interested or would like more information regarding our study, please contact: Dorita Jones, Study Coordinator 615-343-1961 dorita.jones@vanderbilt.edu


Ananta and the 401 Project: A Personal Perspective

sc001e2b7aThis is an old picture of my daughter Ananta from December 1972. June 30th this year marks her 45th birthday. When I took this picture, I didn’t know she only had 10 days left in her short life.

Ananta was diagnosed with Type 1A Glycogen Storage Disease, not MECP2 Duplication Syndrome like her brother Dave, but I think part of her story belongs here. Continue reading

MECP2 Duplication Syndrome, Pain, and the Least Dangerous Assumption

trap-33819_640New research from China suggests that MECP2 duplication syndrome may result in reduced pain responses. This will not come as a surprise to parents, health care professionals, or others with considerable experience with children and adults with MECP2 duplication syndrome. Many individuals with MECP2 duplication appear quite stoical when experiencing things that would cause considerable pain to other people.

This study by Zhang and colleagues came out a couple of weeks ago. It is an important topic and a good study. Since it is published in an open access journal anyone with access to the internet can read the study. Nevertheless, it is important to interpret and read this study with caution. Continue reading

MECP2 and the Immune System

mouseI usually don’t use this blog to comment on research that is primarily oriented toward Rett syndrome. Others with more expertise related to Rett syndrome can do a much better job of that. A recent article on Rett syndrome mice, however, deserves a bit of comment here because of its possible implications for MECP2 duplication syndrome. In “Methyl-CpG Binding Protein 2 Regulates Microglia and Macrophage Gene Expression in Response to Inflammatory Stimuli,” Cronk and colleagues raise the question of whether the role of the MECP2 gene in regulating the immune system could be central to most or all of the other problems seen in Rett syndrome. This possibility has been raised before both with Rett syndrome and MECP2 duplication syndrome, and this research provides some additional reason to take this hypothesis seriously. Continue reading

MECP2 and Sleep Issues

sleepSome of the earliest research on MECP2 gene and protein focused on its role in the circadian cycle that regulates sleep and wakefulness . Now, researchers from Barcelona have taken that research a step further. They showed that the highest levels of MeCP2 protein occurred during the sleep phase and lowest during the awake phase. Continue reading

Early Results of Epidiolex CBD Studies are Encouraging

CAUTION2 Some very encouraging news. Researchers at at New York University’s Langone Medical Center have reported results from clinical trials of Epidiolex, a pharmaceutical preparartion of CBD Cannabidiol. The study was structured to determine if the medication was safe, not to measure effectiveness as a an anticonvulsant. Nevertheless, 80% of the participants in the study decreases in seizure activity and on average. The average result for participants was a 54% reduction in seizures after 12 weeks of treatment. Additional clinical trials are still in progress. Continue reading

Long Gene Expression

flaskGabel, H. W., Kinde, B., Stroud, H., Gilbert, C. S., Harmin, D. A., Kastan, N. R., et al. (2015). Disruption of DNA-methylation-dependent long gene repression in Rett syndrome. Nature. doi: 10.1038/nature14319

This new study may accelerate research on finding useful treatments for treating both Rett syndrome and MECP2 Duplication syndrome. It has been well-established that the MECP2 gene plays an important role in promoting the expression of some genes and inhibiting the expression of others. Now researchers have found that while it affects many genes, it has a greater impact on long gene expression. Continue reading