Tag Archives: Research

Late Onset Spasms (LOS)

eye1A few days ago, I posted a video (Drop Seizure Video) on this blog. It showed a girl having “drops” or what the video caption called “infantile spasms.” A large number of MECP2 Duplication Syndrome family members agreed that although their affected family members had many kinds of seizures, this looked a lot like what some of their drops look like. I definitely found this very interesting, since infantile spasms are generally described as starting before one year of age, and are very rare in older children or adults.

Thanks to the internet, I was able to find out more. I got some great leads from two colleagues in Kyoto Japan and Doha Qatar Continue reading

Zoghbi Lab Reversal Study

News icon25 November 2015 Today’s publication in Nature:

Yehezkel Sztainberg, Hong-mei Chen, John W. Swann, Shuang Hao, Bin Tang, Zhenyu Wu, Jianrong Tang, Ying-Wooi Wan, Zhandong Liu, Frank Rigo & Huda Y. Zoghbi (2015 November 25). Reversal of phenotypes in MECP2 duplication mice using genetic rescue or antisense oligonucleotides. Nature doi:10.1038/nature1615

Dr Zoghbi explains what they have accomplished in this video from the 401 project. Video created by Joseph Mendoza.

The  article in Nature is what families have long been waiting and hoping for. Continue reading

Rats, Mice, MECP2 Differences and Implications

mouseOn first reading, differences between mice and rats in responses to missing aMECP2 gene didn’t seem to relevant to research on treating extra MECP2 gene activity in humans with MECP2 Duplication Syndrome. Later, it suddenly hit me that this could be very relevant and important.  This research suggests that rats may be a better model for studying MECP2 Gene activity than mice that are currently being used in most of the studies. In a more general sense it also suggests that the role of the MECP2 gene may be species specific. Continue reading

MECP2 Duplication is Not So Rare as Once Thought

NEW3Although MECP2 Duplication Syndrome (or Xq28 Duplication) is correctly identified as a rare condition, available research suggests that it is not as rare as we once thought. For example, Japanese researchers published a 2014 study in Human Genome Variation that described from results of 1,250 patients with intellectual disabilities who had not received specific diagnoses. The researchers performed advance genetic testing on these 1,250 patients and found probable genetic causes for 17% of these individuals. Many different genetic conditions were found among these 17% of patients. However, one condition was found more frequently than any other. That condition was Xq28 duplication with duplication of the MECP2 gene. This suggests that MECP2 Duplication Syndrome is not nearly as rare as once believed and that many cases continue to go diagnosed.

In the words of the researchers: Continue reading

Emerging Research on Treating Seizures with CBD (Cannabidiol)

starquestionSeizures present a major problem for individuals with MECP2 Duplication Syndrome. Most, if not all, will develop seizures at some point in their lives, and their seizures are typically extremely difficult to treat with conventional anticonvulsants. Some families have attempted to treat seizures with Cannabidiol (CBD) after widespread publicity has touted its apparent effectiveness in treating seizures in children and adults with uncontrolled epilepsy. Officially the verdict is still out on its effectiveness, but the good news is that their is now a flood of new scientific reviews and studies emerging and generally it is quite supportive of CBD. Listed here are a few recent publications and a brief summary of relevant findings.

Hussain, S. A., Zhou, R., Jacobson, C., Weng, J., Cheng, E., Lay, J., et al. (2015). Perceived efficacy of cannabidiol-enriched cannabis extracts for treatment of pediatric epilepsy: A potential role for infantile spasms and Lennox-Gastaut syndrome. Epilepsy & Behavior, 47, 138-141.

This was a survey of 117 parents Continue reading

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