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Putting the protein back

The MECP2 Gene Therapy Consortium. From L to R - Gail Mandel, Brian Kaspar, Steven Gray and Stuart Cobb

Rett Syndrome is caused by a lack of MeCP2 protein. Putting the protein back in mice, reverses symptoms.

Putting the protein back in people could be accomplished in a number of ways. Here are two approaches which Reverse Rett is currently supporting:

Gene Therapy

In 2013,  the symptoms of Rett Syndrome were demonstrated to be reversible in a mouse model through gene therapy.

Gene therapy works by introducing a healthy copy of a gene, in this case, MECP2, into cells. Researchers modify viruses so that they can carry the healthy gene. These modified viruses are called vectors. The vectors carry the healthy gene into every cell of the body, in the same way that viruses carry disease into every cell of the body.

There are a number of experiments which still need to be done in order to drive gene therapy for Rett Syndrome out of the lab into clinical trials. To this end, RSRT launched the Gene Therapy Consortium, an international collaboration between four laboratories who together bring all the necessary skills to move gene therapy into human cinical trials as quickly and safely as possible.

The four labs involved are collaborating on an unprecedented level; sharing expertise, data and technology in order to move more quickly towards our solution.

Reverse Rett is providing on-going financial support to the RSRT Gene Therapy Consortium. We are grateful for the support of the RS McDonald Charitable Trust who have enabled Reverse Rett to provide addtional support to Stuart Cobb's lab at the University of Glasgow.

For the latest updates about the RSRT Gene Therapy Consortium, please visit the RSRT website here.

Watch Consortium Member and Reverse Rett Advisory Board Member, Stuart Cobb explain the work of the Consortium below:

 

 

 

Activating the silent X

All girls and women have two X chromosomes in every cell, one which is working and one which is silenced or inactivated.
MECP2 is a gene on the X chromosome, which means that girls and women with Rett Syndrome actually have a healthy copy of the MECP2 gene as well as the damaged one which causes Rett Syndrome.


Researchers are looking for ways to switch the healthy gene back on, which in turn, could bring the protein back and reverse symptoms. Reverse Rett is currently financially supporting a number of labs who are pursuing this work, via the Reactivating MECP2 Consortium at RSRT. Each of these labs are pursuing different strategies to achieve the same goal.

You can read more about the work of the RSRT Reactivating MECP2 Consortium here.

One of these labs is the lab of Ben Philpott at the University of North Carolina who have successfully managed to reactivate a silenced gene in another disorder, Angelman Syndrome. Watch a video about this work below.

Ben Philpot: Gene Awakenings for the Treatment of Neurological Disorders