Category Archives: Uncategorized

Lennox-Gastaut and MECP2 Duplication

DaveEEGOver the years, there has been considerable discussion of whether the seizure disorder associated with MEP2 Duplication Syndrome should be categorized as Lennox-Gastaut syndrome. Up until very recently, this has been mostly an academic discussion, but a recent development means that this argument may have important practical implication for individuals with MECP2 Duplication Syndrome and their families. On June 25, 2018, the FDA approved Cannabidiol treatment for individuals with Lennox-Gastaut, (and Dravet syndromes) and having a diagnosis of Lennox-Gastaut may affect availability and cost to individuals MECP2 duplication syndrome. So, here are some facts to consider. Continue reading

Family Facts or Menacing Marriage Myths

It has been written 100s of times and repeated 100s of thousands of times:

Family Together - Parents and Kids, Wheelchair“…about 70 percent of US couples with disabled children get divorced”

“…the divorce rate among parents of autistic children is 75 percent”

“…parents [of children with developmental disabilities] have an 80% chance of divorce”

“… estimates put the divorce rate among parents of children with severe disabilities as high as four out of five marriages.”

“…upwards of a 90% divorce rate if there’s a damaged baby in the house”

but there are two problems with these statements. First, THEY ARE NOT TRUE and, more importantly, THEY ARE DANGEROUS. Continue reading

STAT Wunderkind: Dr. Hsiao-Tuan Chao

NEW3Dr. Hsiao-Tuan Chao, one of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital research team studying MECP2 duplication syndrome and related disorders, has been named as a 2017 STAT Wunderkind. This honor is awarded each year to recognize up-and-coming medical and biotechnology researchers whose careers are blossoming and are expected to be North America’s next generation of leading scientists. This year 27 “Wunderkinds” were selected for this honor out of more than 300 nominations.

Congratulations to Dr. Chao.




More Evidence of Reversibility

New research from Canada provides additional demonstration of reversibility of MECP2-related disorNews iconders. Researchers from the University of Toronto and the Hospital for Sick Children have demonstrated that the volume of specific areas the adult brains of Rett syndrome mice actually undergo a growth spurt withe the normalization of levels of MeCP2  protein. These results were presented in San Diego on November 16, 2016 at the Annual Meeting of the Society for Neurosciences.

These findings are consistent with previous research on reversibility, such as those from the Zoghbi lab at Baylor, and also provides additional new information on the normalization of brain volume.This growth spurt in adult brains is quite an exciting finding, even if some caution is required in generalizing this finding from lab mice to humans.

More information can be found here.

Rett & MECP2 Duplication are Epigenetic Syndromes

lightbulbWhile Rett syndrome and MECP2 Duplication Syndrome are typically discussed as genetic syndromes, they are both examples of a small subset of genetic syndromes called epigenetic syndromes. During most or the 20th Century scientists believed that genetics determined most of our health and behavior in ways that were relatively unchanging throughout our lives. During the second half of the 20th Century, most scientists believed that this genetic information was immutably coded in our DNA. During the last decade of the 20th Century, however, this view was modified with the recognition of epigenetics.

Epigenetics is the process by which DNA is modified by an individual’s interaction with his or her (internal and external) environment. Continue reading

Huda Zoghbi & Adrian Bird Honored

shaw31 May 2016 Today it was announced in Hong Kong that 2106 Shaw Prize in Life Sciences and Medicine will be shared by Professors Huda Zoghbi and Adrian Bird:

for their discovery of the genes and the encoded proteins that recognize one chemical modification of the DNA of chromosomes that influences gene control as the basis of the developmental disorder Rett syndrome.

We are extremely fortunate to have these outstanding researchers working on MECP2 related disorders. The Shaw prize is the latest in a long list of honors recognizing their contributions to the field.

Unity, Strength, Hope Conference


This is a reminder about the upcoming conference on MECP2 related disorders in June. This event is really two conferences in one: (1) A family conference for those whose family members are affected by Rett syndrome, MECP2 duplication syndrome, FOXG1 syndrome, CDKL5 disorder, or other MECP2 related syndromes., and (2) a concurrent professional and research symposium on the same disorders. The conference will take place at the Eaglewood Resort in Illinois, June 22-24, 2016.


MECP2 Duplication Syndrome Monkeys

An important step forward in research on MECP2 Duplication Syndrome

MECP2MomkeysResearchers at the Institute of Neuroscience, Key Laboratory of Primate Neurobiology, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai, Institutes for Biological Sciences, Chinese Academy of Sciences reported in Nature about some developmental/behavioral aspects of MECP2 Duplication Syndrome in transgenic monkeys with MECP2 overexpression.

-Zhen Liu, et al. (2016 January 25). Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. Nature, doi:10.1038/nature16533

The New York Times also published an article on this research today (15 January 2016) that includes a short video clip demonstrating some behavioral differences between the MECP2 over expressed monkeys and those with typical MECP2 levels. Both articles point to this research as an important step toward better animal models for studying autistic behaviour. While this is not the main thrust of research on MECP2 Duplication Syndrome, the prominence of these transgenic primates may help to encourage and enable research on the syndrome. In addition, th availability fo transgenic primates with MECP2 Duplication will likely become important as treatments for the syndrome get closer to being applied to humans affected by the syndrome.

Thanks to Dr. Sarika Peters for bringing this study to my attention.





Dave’s Graduation from Concordia University

This video is from May 2103, it shows Dave’s graduation from Concordia University, scenes from his grad party and other activities from his four years at University.

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