This is a great story from the Courier in Scotland. Gillian Bayford, a landlord who won the lottery, is sharing her good fortune. In addition to supporting the remodeling of his home to support Blake McMillan’s special needs, she is directing all the rent paid by Blake’s family to support research on MECP2 duplication syndrome, the condition which affects Blake. For more info, see the original story in the Courier.
It is great to see creative ways that people are finding to support this cause.
Researchers at Harvard University are suggesting a new theory of autism. They are raising the possibility that atypical neurological responses to touch can play an important role in developing symptoms of autism, and suggesting that abnormal levels of MeCP2 levels in cells that respond to touch can be critical to the development of symptoms of autism.
Experiments with a number of types of genetically engineered laboratory mice, they found autistic-like behavior developed in those without MECP2 activity in touch cells, but not if normal activity was present in touch cells but not in other cells in the body. There are a number of cautions in interpreting this finding and the associated theory, but there are also a number of general observations that make this theory enticing. Continue reading
31 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.
Several new studies provide encouraging results about the use of cannabidiol (CBD) oil to treat seizure disorders that are not controlled by other medications. Research also, however, points toward important cautions.
Already in 2016,at least nine studies have been published on CBD and seizures. Two 2016 studies, one from Israel (Tzadok et al.,, 2016) and one the United States (Devinsky et al., 2016) are generally reporting particularly encouraging results. This is not to say the others are negative, just less relevant. The two discussed here are important because they include some results Continue reading
February 29, 2016 is International Rare Disease Day. While by definition individual rare disorders are uncommon, collectively more than 6,000 rare diseases affect a large segment of the population. For more information, see http://www.rarediseaseday.org/events/world
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Tagged health, news
“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.
Great new video highlights the kids with MECP2 Duplication Syndrome and their families.
This great video was released on Christmas Day 2015. Thanks to Joe Mendoza and his colleagues for another great video… and of course, thanks to all the families who participated.
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.