New Insight Into MECP2 Mutation Hotspot
March 28, 2017
Rett syndrome-causing missense mutations cluster in two regions of MECP2. One of these regions – the methyl-CpG binding domain (MBD) – has been extensively characterized and helps MeCP2 bind DNA. The other region is called the NCoR/SMRT interaction domain (NID) and recruits a gene-silencing complex, but its function has remained comparatively…
Roadmap to a Cure FAQ
March 24, 2017
We’ve tried to anticipate some of the questions that families will have about Roadmap to a Cure. What if you don’t raise the full $33 million? Failure is not an option. We simply must raise the full amount. In fact, there are a number of other worthy efforts that merit…
RSRT Awards $7.5 Million to Research in 2016
March 17, 2017
RSRT was launched in 2008, in the wake of Adrian Bird’s remarkable reversal experiment. Our mission has always been a cure, not an improvement of some degree in a symptom or two… an all-out cure. Our 2016 awards, totaling $7.5 million, reflect our mission. RESEARCH AWARDED BY YEAR: Over $2…
Rare Disease Drug Approval Sparks Controversy
December 14, 2016
New hope for a devastating disease? Dangerous precedent for the FDA? Reactions are polarized to the approval of the new Duchenne muscular dystrophy drug, Exondys 51. Some believe the FDA lowered its standards and caved to pressure from advocacy groups to approve an expensive drug that lacks convincing efficacy data….
Gene Editing Shows Potential for Treating Genetic Diseases Like Rett
December 6, 2016
One of the hottest emerging approaches to altering or correcting defective disease-causing genes is called CRISPR/Cas9. In fact, the first human study for CRISPR/Cas9 – a trial for a potential cancer therapy – is being planned by a collaboration of investigators at the University of Pennsylvania and other research centers. The technology…
What the Chan Zuckerberg Initiative Means for Rett Research
September 27, 2016
My inbox flooded with emails this past Wednesday following the announcement of the Chan Zuckerberg Initiative. Facebook founder, Mark Zuckerberg and his wife Priscilla, will be investing $3 billion over the next decade (and more billions after that) to help cure, prevent, or manage all disease. But wait…the news gets…
Mortgaging the House
August 18, 2016
Last week RSRT posted on Facebook an article about a gene therapy treatment for “bubble boy disease” commercialized by GlaxoSmithKline (GSK). The one-time treatment is priced at $665,000 and interestingly comes with a money-back guarantee. If the treatment doesn’t work as promised, you (or insurance companies) get your money back….
