Scientists are thinking the unthinkable: CRISPR might one day reverse devastating brain diseases
April 10, 2018
Monica Coenraads’ daughter has never spoken since she blurted out “duck!” while taking a bath soon before her first birthday, and has never walked. Chelsea lost the ability to hold her sippy cup and stopped responding when Coenraads played “can you touch your nose?” She cannot use her hands, and…
AveXis Reports on Rett Gene Therapy Program: AVXS-201
February 28, 2018
AveXis Reports on the Rett Syndrome Gene Therapy Program – Clinical Trial Likely to Start Within a Year In June of 2017 AveXis announced that based on encouraging data generated by RSRT’s Gene Therapy Consortium it would advance the lead MECP2 gene therapy candidate toward clinical trials. Yesterday the company…
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…
