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Exciting News for the MECP2 Duplication Syndrome Community

January 14, 2020

RSRT has made it a priority to fund research not only on Rett Syndrome but also on MECP2 Duplication Syndrome. Duplication Syndrome is the inverse of Rett: it results in the body producing too much of the MECP2 protein, where Rett results in too little of the same protein. In that sense, these disorders are interlinked with each other and research on one can help inform research on the other.

When it comes to fundraising for research on MECP2 Duplication, families affected by this disorder know that it’s up to them. That’s not unique to Duplication Syndrome. It’s the same for Rett and other diseases. The families that have an afflicted loved one are the driving force behind raising the funds that make the research happen. If you’re interested in the background behind the MECP2 Duplication Fund at RSRT, it’s worth reading here: MECP2 Duplication at RSRT. These families, despite their small numbers, have done an admirable job of raising funds to move the needle closer to treatments and a cure for this devastating disorder.

The MECP2 Duplication community has some very palpable reasons to be especially excited and optimistic right now—on both the research front and the fundraising front. At the end of the year RSRT committed to funding two promising new Duplication projects, one at the Hospital for Sick Children in Toronto and the other at the University of Massachusetts Medical School. Both projects attack the root cause of Duplication Syndrome and could lead to clinical trials and a profound reversal of symptoms. The projects have a total combined cost of $1 million.

Here’s the exciting news on fundraising. Rajeev and Dipika Batra, whose son Rohan has Duplication Syndrome, have made a very generous pledge of $300,000 to support this research. The Batras, who live in the San Francisco area, are deeply committed to changing their son’s life and the lives of all who struggle with the disorder. Several other Duplication families ran successful crowdfunding campaigns on RettGive at the end of the year, and RSRT has some funds earmarked for Duplication set aside. The end result is that $745,000 has already been raised to cover the budget for these projects. That’s 75% of the way to $1 million.

Now we’re asking as many Duplication Syndrome families as possible to jump in and start RettGive campaigns to raise the remaining $255,000 needed. The faster these funds are raised, the better, because other projects are in the pipeline. The goal is to have these funds raised by June 1. We’re confident that this is a very achievable goal, and that Duplication families in the US and around the world have the dedication and energy to do it.

To Duplication Syndrome families, if you’re not already taking action, there’s never been a better time!

Building a critical mass of smart, creative scientists attacking MECP2 Duplication Syndrome from a variety of angles is incredibly important. Setting up your RettGive campaign may be one of the most important things you ever do.

Please contact me and I can get you started on a RettGive campaign. It’s easy, effective, and costs nothing. I hope to hear from you! Thank you!

Tim Freeman