Category Archives: Hope

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

Advertisements

Anthems of Hope

Winter 2015-2016 has been heartbreaking  for families affected by MECP2 Duplication Syndrome all around the Northern hemisphere. So many of our affected family members have been seriously ill, in critical care, and sadly some have not survived. It has been crushing for families directly affected, and even those not directly affected feel some of that pain. It has been hard to keep the light of hope burning for many of us.

As the father of one of the lucky ones, who have so far made it through this winter untouched, I feel empathy for the many families who are suffering now— but I also feel guilty about our family’s good fortune and feel afraid that our luck will change. It is really hard to know what to say to the families that are hurting so badly right now. No words seem adequate. As difficult as it may be at times, we need to hold on to hope, no matter what comes. Continue reading

Encouraging News about NNZ-2566

CAUTION2 NEW3About two and half years ago, back in May 2013, this blog reported that an experimental drug NNZ-2566 might be useful for protecting the brains of individuals with MECP2 duplication syndrome. Now there has been encouraging news from clinical trials using this drug with individuals with Rett syndrome.

In 2013, there was more encouraging news suggesting that soldiers who sustained head injuries might have fewer lasting symptoms of traumatic brain injury. Continue reading

Video: MECP2 Duplication and Hope for Families

This 5-minuted video from Joseph Mendoza does a superb job of telling the story of children and adults with MECP2 Duplication Syndrome and their families.

MECP2 Duplication Syndrome Families on Facebook

 

MECP2FTFBFamilies of children or adults with MECP2 Duplication Syndrome are invited to join one (or more) of the Facebook groups connecting families.  The MECP2 Duplication Syndrome Family Talk Group links more than 300 family members from around the world. Topics of discussion include: information sharing, mutual support, news on research and treatment, practical tips, and lots more.

The UK MECP2 Duplication Syndrome Support Group links 1904 family members, primarily in the United Kingdom and Europe.
Duplication MecP2 France links 72 Francophone family members in France and other countries.
To join these groups, family members must join Facebook (if they are not already members). Then go to the group page and request membership.

Project 401

project 401 logo25 January 2012 Families of individuals with MECP2 Duplication Syndrome have formed Project 401. The goal of the project is to raise $80,000 by April 1, 2012 to make a down payment on a research project that represents an important first step toward treatment for MECP2 Duplication Syndrome. The name project 401 alludes both to the date 4-01 (April First) and the amount ($401) that each of 200 family members is hoping to raise or contribute in the next two months.  Continue reading