“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
In my last post, I listed a bunch of conditions that had been linked to MECP2 levels in one way or another and suggested “the big picture” about the many roles of MeCP2 may turn out to useful to understanding the best approaches to MECP2 Duplication. After posting it, I came across another paper, “MeCP2-Related Diseases and Animal Models” in the journal Diseases. I thought I should add this supplementary post for a few of reasons. First, this paper provides a very nice summary. Second, it adds a several other conditions to the list that covered in my last post, including rheumatoid arthritis, Huntington disease, and more varieties of cancer. Finally, it is a nice paper medically, and scientifically written but clear enough for a wider audience and it is available to the general public at no cost.
It is very early to speculate, but it is possible that finding a viable method of managing MeCP2 levels may become an important quest, not only for researchers looking for a way to help not only those with MECP2 duplication syndrome (a rare disorder), but for those searching for better ways to treat much more common disorders such as cancer and arthritis. This could massively increase interest and funding for MECP2-related research.
2015 has been a year of progress. There has been spectacular progress in research, families have worked hard to support these efforts, more families have been connected through the Facebook family talk site and other similar sites, and more children and adults have been diagnosed at earlier ages… including some prenatally.
Sadly, 2015 has also been a heartbreaking year. More children and adults passed away, and many others underwent major health crises.
This year more than 8700 individuals accessed more than 14,000 pages on this website. These individuals came from 92 different countries. More professionals and members of the public are learning about MECP2 Duplication. For a complete annual report from this website, click on the link below.
This STV news story with Jenny and Blake McMillan provides a personal perspective on the recent Nature publication of a groundbreaking study showing that MECP2 Duplication Syndrome can be reversed.
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
On 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
Seizures 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
Special thanks on behalf of families of individuals with MECP2 Duplication Syndrome to my colleagues Fred Orelove and Donna Gilles who have decided to assign 100% of the royalties of our forthcoming book, Educating Children with Severe and Multiple Disabilities to support research efforts to find new and better treatments. Royalties will be paid to the MECP2 Duplication Syndrome Fund at the Rett Syndrome Research Trust.
Fred and Donna have been leaders in the field of developmental disabilities for decades. Continue reading
As strange as it may seem rare chromosomal disorders are quite common.
Sunday, June 7th, starts Chromosome Disorder Awareness Week. Unique is an international organization that raises awareness of chromosome disorders and their Awareness week kicks off 7 June 2015. For more information, check out their press release.