The Rett Syndrome Research Trust (RSRT) has awarded $10 million to a host of top international researchers to help find a cure for the neurological disorder.
The 2018 award is the organization’s largest since its founding in 2008. To date, RSRT has awarded some $57 million for research.
The RSRT says some 15,000 girls and women in the United States and 350,000 globally live with Rett syndrome, a non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls and leads to severe impairments.
In a press release, the nonprofit RSRT last year decided to boost investment in key areas, including gene therapy and DNA and RNA editing. Because the latter two can be accomplished in different ways, RSRT is considering strategies to cover every treatment possibility.
The awards are part of RSRT’s $33 million strategic research plan called Roadmap to a Cure. The components of the plan, announced in 2017, are to cure, treat, enable, and learn. Some $24 million has been pledged or contributed.
“At RSRT we have one bold, challenging goal — to cure RETT and related MECP2 disorders,” said Monica Coenraads, RSRT’s executive director, who has an adult child with Rett. “To that end, RSRT has developed the first and only comprehensive and aggressive plan to cure Rett syndrome. The strategies are identified, the scientists recruited and our internal research team poised to not only monitor and evaluate progress, but to also be vigilant for new technologies on the horizon.”
Highlights of the projects, all of which emphasize the plan’s “cure” aspect, include:
• Nearly $700,000 in additional funding for the Gene Therapy Consortium 2.0. Data from the Gene Therapy Consortium 1.0, launched in 2014, led to clinical-stage gene therapy company AveXis’ 2017 decision to pursue trials for gene therapy candidate MECP2 in Rett syndrome patients. Clinical trials are set to begin this year. The mission of Consortium 2.0 is to have a new gene therapy product ready for testing by 2021. To that end, the RSRT has recruited to the Consortium James Wilson of thethe University of Pennsylvania, the world’s largest academic gene therapy program.
• Nearly $2 million to Beam Therapeutics, founded by prominent researcher J. Keith Joung and two other scientists, for a DNA editing program to correct MECP2 mutations. Beam is employing the sophisticated gene-editing tool CRISPR to target specific DNA mutations and repair them. The goal is to uncover a new class of therapeutics for Rett.
• More than $2.3 million to correct MECP2 mutations in RNA. Led by scientists at the Massachusetts Institute of Technology, the Broad Institute and Harvard University, the project is designed to develop treatments using CRISPR Cas13 technology to target RNA rather than DNA.
• Some $2.4 million for RNA and DNA editing to treat Rett syndrome. University of Massachusetts Medical School researchers, including Jonathan Watts, will work to replace the two exons in DNA — the regions that contain information to make proteins — where 97 percent of MECP2 mutations reside.
• Almost $1 million to two RNA editing projects ongoing in two West Coast labs. These researchers are editing RNA by using the naturally occurring editing enzyme in neurons known as ADAR.