“Using a previously undescribed approach involving single guide RNA, we successfully removed large genome rearrangement in primary cells of an individual with an X chromosome duplication including MECP2.”
Wojtal, D., Kemaladewi, D. U., Malam, Z., Abdullah, S., Wong, T. W., Hyatt, E., et al. (2016). Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. American Journal of Human Genetics, 98(1), 90-101.
2015 and 2016 have already been marked by some major breakthroughs in potential steps toward treatment of MECP2 Duplication Syndrome. This report in the American Journal of Human Genetics definitely adds to collection. Continue reading
OPINION: This week Nature published a very interesting and possibly groundbreaking study on schizophrenia. It doesn’t mention MECP2 but it does talk about the role of the pruning process in the brain. The way our brains develop is by creating a bunch of new connections and then trimming away the ones that are not needed or helpful. The article suggests that schizophrenia develops when the pruning process goes too far in some parts of the brain. This is also consistent in some earlier reports that did suggest that certain defects in MECP2 were implicated in early onset schizophrenia.
Too much or too little MeCP2 activity has also been connected to a number of other conditions, such as Continue reading
25 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
26-27 May 2011 The first 1st International MECP2 Duplication Syndrome Family Conference in Houston, Texas was attended by approximately 200 people representing 45 families. There were three major components to the conference:  scientific and clinical presentations,  data collection for ongoing research, and  social events for families. Continue reading
14 June 2009 – Edmonton, AB, Canada From a parent’s perspective one of the strange things about MeCP2 Duplication syndrome is that it has been described both as rare and common. How rare is it? Continue reading
This is a great 2003 “Research Channel” video from the Howard Hughes Medical Institute abiut the genetic basis for Rett syndrome. Although this is about Rett syndrome, not MeCP2 Duplication Syndrome, Dr. Huda Zoghbi does a great job of explaining the role of the MeCP2 gene. It’s an hour long, but it is well worth watching.
Dr. Huda Zoghbi: The Strength of Families: Solving Rett Syndrome