Funds we raise to support Rett Syndrome research are granted to the Rett Syndrome Research Trust. Below is an overview of the projects currently underway in the RSRT research portfolio.
The cause of Rett Syndrome was discovered in 1999. We all have a gene called MECP2 that produces a protein in the brain which controls thousands of other genes. Girls who develop Rett Syndrome have a mutation on this gene and cannot produce enough protein to function normally.
We are "lucky" that Rett is a single-gene disorder. Due to recent advancements, we are also extremely hopeful that interventions will reverse the symptoms, bringing back hundreds of thousands of girls who have been living in their trapped bodies ... and put a stop to this "Rett Monster" that takes hold of another little girl's body every 90 minutes.
Here are three ways to approach treatments and a cure for Rett Syndrome listed from the RSRT Website:
Increasing Levels of the MeCP2 Protein
Rett Syndrome is caused by a deficiency of MeCP2 protein. One approach to curing the disorder, therefore, is to restore normal levels. This may be accomplished in a number of ways including small molecule therapeutics (drugs) and/or biologics (gene therapy, protein replacement).
Alleviation of specific symptoms
The array of individual symptoms in Rett Syndrome is so significant that eliminating a single one may, in many cases, dramatically improve quality of life. Finding an FDA approved drug/compound which ameliorates a symptom (such as disordered breathing, extreme anxiety, seizures) would be the quickest and most cost effective route to clinical trial.
Identifying target genes and genes that modify MECP2 mutations
The development of interventions aimed at genes that MECP2 controls is yet another potential avenue. Recent data, however, suggests that MECP2 may control thousands of genes. Futhermore, these genes may vary considerably depending on the tissue type. It will therefore be extremely challenging to develop treatments if thousands of genes need to be targetted. Nevertheless identifying these genes is the focus of a number of labs and progress in this are may reveal genes worth pursuing.
Want to know even more?
Read an in-depth overview of projects in the RSRT research portfolio taking place at the following labs:
Marisa Bartolomei, Ph.D.
University of Pennsylvania
Antonio Bedalov, M.D., Ph.D.
Fred Hutchinson Cancer Research Center
Adrian Bird, Ph.D.
University of Edinburgh
Ronald C. Crystal, M.D.
Weill Cornell Medical College
Monica Justice, Ph.D.
Baylor College of Medicine
Brian Kaspar, Ph.D.
Ohio State University
Jonathan Kipnis, Ph.D.
University of Virginia
Stavros Lomvardas, Ph.D.
University of California San Francisco
Gail Mandel, Ph.D.
Oregon Health Science University
Andrew Pieper, M.D., Ph.D.
University of Texas Southwestern Medical Center in Dallas
Huda Zoghbi, M.D.
Baylor College of Medicine