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Our Results

A cure for Rett. This always has been the goal and always will be the goal. Until we are done.

Curing Rett syndrome is a difficult and ambitious goal. Achieving success takes a singular focus, a deep understanding of the science, an environment built for collaboration, and experience with drug and business development. It takes driven and talented people, including the best and brightest scientific minds, staff and advisors with a biopharmaceutical industry background, and rational leadership who won’t get distracted by the latest trends and dead ends. But above all it takes a plan.

RSRT started by funding years of basic science, which grew our collective knowledge base of the molecular underpinnings of Rett syndrome. As our learnings grew it became clear that the lab discoveries could make a difference for people living with Rett, so we got to work on translating the science and attracting biopharmaceutical industry partners.

In 2017 we launched Roadmap to a Cure, our three-year research plan aimed at identifying all the available strategies that attack Rett at its core. Thanks to the Rett community we were able to raise $33 million for Roadmap, which allowed us to recruit scientists and generate data on each of the strategies. The results exceeded our wildest expectations, and we’ve since launched 12 programs that attack Rett at the genetic level.

In late 2020 we launched CURE 360, a blueprint for how we now drive our strategies into a coordinated attack on Rett by intensely focusing on both science and business development.

Transitioning scientific discoveries from academic labs to biopharmaceutical companies is critical, especially for a disorder like Rett which has inherent challenges and is not considered low-hanging fruit.

Shepherding breakthroughs from labs to companies’ drug pipelines is where RSRT excels. Our track record speaks for itself. At the start of Roadmap there were zero companies with MECP2 therapeutic programs. Today, there are seven, with more to come. Every single company pursuing a cure for Rett is able to do so because they leveraged discoveries and resources that were incubated with RSRT funding.

MECP2 Therapeutic Pipeline

Therapeutic Development

We are uniquely positioned to take full advantage of this moment in scientific progress because we have asked the right questions, recruited the right scientists, built the right relationships, and maintained a healthy objectivity about what is possible. Because RSRT is thinking critically about all of the possible strategies for a cure we have fostered the following discoveries and collaborations.


  • RSRT introduced and expanded novel therapeutic areas for Rett that did not exist before: gene therapy, genome editing, MECP2 reactivation, RNA editing, RNA trans-splicing.
  • Research incubated by RSRT has led to industry picking up programs: Taysha, Vico
  • Research and foundational resources supported by RSRT has expedited programs: Beam, Shape, Herophilus, Alcyone
  • Creation of next-generation gene therapy replacement product involving gene therapy pioneer, Jim Wilson.
  • Cultivated, recruited, and funded world-class team at UMASS Medical School to edit DNA by replacing sections that contain 97% of all mutations.


  • Recruited five world-renowned experts including an inventor of CRISPR to work on RNA editing.
  • Our funding developed three approaches to regulate MECP2 expression to prevent overexpression in gene therapy.
  • MECP2 Consortium, composed of an elite trio of scientists, reshaped the scientific thinking of how MECP2 functions.


RSRT’s Role As An Incubator

The basic science, translational efforts, tools, and resources we have nurtured and supported have faciliated the biopharmaceutical companies below to initiate MECP2-therapeutic programs. At the start of Roadmap to a Cure there were ZERO companies. Now there are SEVEN, with more to come.

Clinical and Translational Research

The collaborations, initiatives, and resources that we spearhead and fund provide a knowledge base that has attracted several biopharmaceutical companies to Rett. These are just some of the initiatives and resources we’ve created to make drug development more appealing and feasible for drug companies.

  • Launched Outcome Measures & Biomarkers Initiative to develop assessments that are meaningful and acceptable to the FDA.
  • Conceived of and launched Clinical Trial Consortium with the objective of providing resources to execute high-quality clinical trials.
  • Launched our first FDA-regulated trial in 2019 within the Clinical Trial Consortium.
  • Created a biorepository of valuable human Rett tissue samples (fibroblasts, lymphocytes, iPSC) that are available to academia and biopharma.
  • Launched Jackson Laboratories mouse model initiative

Organizational
Accomplishments

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Yearly Awards

A list of research awards from 2008 to 2021.

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Publications

A list of scientific publications funded by RSRT.

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Trailblazers

Listing of philanthropists who supported Roadmap to a Cure.