IRSF Sets Up Next Wave of Rett Breakthroughs with $2.3 M Research Investment

Categories: Blog, Homepage, News, Research

Dr. Dominique Pichard, IRSF Chief Science Officer

Get ready for the next wave of research targeting treatments and cures for Rett syndrome. IRSF is making it happen.

“Because Rett syndrome is a rare disorder, our Foundation’s investments strongly influence the direction and pace of Rett research, as well as the potential treatment options that come out of it.  We take this responsibility very seriously and choose our investment areas carefully,” shares Melissa Kennedy, IRSF CEO.

Our previous investments have produced compounds making their way through clinical trials. They’ve built a foundation for work in gene therapy. Importantly, they have also enabled discoveries that create new possibilities for treating Rett.

But there is more work to be done. We will continue to support research that creates a path to new and better treatments for Rett syndrome until every individual has access to life-altering therapeutics.  IRSF is pleased to announce its most recent investment of $2.3 million in innovative research grants.

How Will This Research Help Create a World Without Rett?

This research helps create a world without Rett by increasing our understanding of MECP2, identifying new targets, and developing new treatments.

IRSF has worked with the scientific leaders serving on its Scientific Advisory Board (SAB) to identify the most critical work to advance. Our awarded research has been peer-reviewed by Rett experts to help us meet these goals.

“IRSF has continued to provide funding for several exciting and critical areas of Rett Syndrome Research,” shares Kyle Fink, PhD, SAB member and Neuroscientist at the UC Davis MIND Institute. “The funding mechanisms set up by IRSF allow for research to occur at several key levels of treating this devastating disorder. The work funded this year will provide many insights and findings that will allow the field to advance together.”

The projects we’ve funded will create breakthroughs in the critical areas of research need defined by the pillars of our scientific strategy:

  • Critical Research
    • Understand How MECP2 Works
    • Identify New Therapeutic Targets
  • Expand Therapeutic Pipeline
  • Ensure Clinical Trial Success

Advancing Critical Research on MECP2

Why MECP2 Needs Further Investigation

While much work has been done, there is still a lot more to learn to understand exactly what MECP2 does among different cell types or connections in the brain.  Further understanding of this is essential for the development of therapies and treatment.

What IRSF-Funded Research Will Do to Address the Need

  • Survey the connections in the brain affected by MECP2– Dr. Lieselot Carrett
  • Investigate a cell type in which loss of MECP2 may determine the early connections formed in the Rett brain as a new Rett treatment target – Dr. Michela Fagiolini
  • Find out if MECP2-containing brain immune cells can restore functioning in Rett syndrome- Dr. Pinar Mesci
  • Explore how the loss of MECP2 changes the activity of other genes in every cell type in the brain- Dr. William Lowry

Advancing Critical Research on Therapeutic Targets

 Why Therapeutic Targets Need Further Investigation

Rett research has already demonstrated that treatments targeting specific factors affected by MECP2 may substantially improve Rett symptoms. Many influential factors, including those involved in stress and energy, remain understudied as potential avenues for Rett treatment. Exploring these possibilities gives them the chance to become new treatment approaches.

What IRSF-Funded Research Will Do to Address the Need

  • Find out how Rett syndrome impacts a key regulator of cellular stress and inflammation- Dr. Giuseppe Valacchi
  • Determine how mitochondria, the energy generator of the cell, impact cellular stress before and after the regression phase of Rett syndrome- Dr. Alessandra Pecorelli
  • Define the contribution of cellular stress factors to the pathology of Rett syndrome- Drs. Rocco Gogliotti and Colleen Niswender
  • Examine the contribution of “jumping genes” to Rett syndrome- Dr. Anne-Valerie Gendrel

Advancing Pipeline Development and Clinical Trials

Why Pipeline Development and Clinical Trials Need Improving

We won’t know which treatment options will work or for whom they will work until we test them. Adding to and supporting the options already in the clinical development pipeline ensures we’ll never be left waiting for the next hope for a better future for our loved ones with Rett. At the same time, improving the processes used to test Rett syndrome treatments in clinical trials may enable researchers to demonstrate and/or achieve successes that would otherwise be missed.

What IRSF-Funded Research Will Do to Address the Need

  • Continue to work with pharmaceutical companies on their Rett syndrome treatment development programs- Kaminsky Scout Program and IRSF leadership
  • Investigate brain waves as a potentially new and better translatable outcome measure for clinical trials – Dr. Jeff Neul

View IRSF Research

Your Support Makes Progress Possible

While science has already made great strides in improving care for our loved ones with Rett, IRSF won’t rest until we’ve honored our commitment to creating a world without Rett. We look forward to the progress our latest round of research investments will make. With your support, we will continue to drive innovation in Rett treatment development. Your generosity plays a critical role in ensuring that we uncover treatments and a cure for all who suffer from Rett Syndrome. We can’t do what we do without you. Thank you.