Hope for Dakota: 401 Project
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Dakota has had pneumonia a few times each year since he turned 3 years old. And he has had daily seizure activity since he turned 18 years old.
But there is reason to be optimistic about the future for Dakota and others with MECP2 Duplication. In 2015 a scientist at Baylor College of Medicine demonstrated that a dramatic reversal of MECP2 Duplication symptoms is possible in mouse models. Another scientist is exploring gene therapy as a way to treat or maybe even reverse the effects of MECP2 Duplication in people.
The Rett Syndrome Research Trust, a non-profit, is leading the charge to spur and support this research. But RSRT needs funding to carry out this bold and ambitious research that can have an impact on Dakota and many others.
With love,
What is MECP2 Duplication Syndrome?
Unlike Rett Syndrome, which is caused by mutations or deletions in the MECP2 gene, the symptoms that arise from the duplication syndrome are caused, as the name suggests, by having an area of the X chromosome (Xq28), which includes the MECP2 gene, erroneously duplicated. The section duplicated may vary from individual to individual and may also contribute to the severity of the disease.
The syndrome has been diagnosed mostly in boys. The majority inherits the duplication from their mothers who are typically asymptomatic due to favorable X chromosome inactivation (the moms have inactivated the X chromosome that harbors the duplication). Carrier mothers have a 50% chance of passing on the duplication to their children, meaning MECP2 Duplication Syndrome may be quite prevalent.
What is the MECP2 Duplication Syndrome Fund at RSRT?
In an effort to immediately leverage RSRT's deep knowledge base and well established global scientific networks the MECP2 Duplication Syndrome Fund at RSRT was created in late 2010. The Fund puts the intellectual and scientific resources of RSRT immediately to work for the MECP2 Duplication/Triplication Syndrome community.
The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research - not a single penny goes to overhead.
In 2012, a parent-driven effort was established to raise funds for the initial reversal experiments conducted at the Baylor College of Medicine. Families pledged to raise $401 to cover the cost of the experiments. The initiative was a success, and the 401 Project was born. All funds raised through the 401 Project initiative are directly deposited into the MECP2 Duplication Syndrome Fund at RSRT.
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