Tag Archives: MeCP2 Duplication

Another Big Step Forward with CRISPR

NEW3“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

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MECP2: A Big but Somewhat Blurry Picture

QuestionMarkOPINION: 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

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

1st International MECP2 Duplication Syndrome Family Conference

Texas Children's Hospital26-27 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: [1] scientific and clinical presentations, [2] data collection for ongoing research, and [3] social events for families. Continue reading

Dr. Zoghbi’s June 2009 NIH Lecture

Dr. Huda Zoghbi agve a great lecture on “Neurobiology of Rett syndrome and related disorders” in June 2009 for the National Institute of Health. parts of the one-hour lecture are technical but much of it in plain language. The lecture does a great job of describing how MECP2 Duplication Syndrome was discovered and some of the similarities and differences between MECP2 Duplication Syndrome. Its well worth watching. Continue reading

MeCP2 Duplication: Rare or Common?

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

The Strength of Families: Solving Rett Syndrome

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