What We’ve Built Together
As the mother of Benjamin and Gabriel, who both have ATR-X syndrome, I know how much we all want to see meaningful therapeutic options become a reality for our children and loved ones.
Five years ago, we founded what is now the ATRX Research Alliance (ARA), formerly CureATRX, because we believed our community could do more than wait for research to happen. We could help drive it forward.
Today, I’m incredibly proud of what our amazing patient community has made possible.
Since 2021, we’ve brought families, clinicians, and researchers together, supported early drug discovery efforts, and helped strengthen the resources needed to make our community research-ready.
We’ve made progress in the development of stem cell models (called iPSC models) to better understand ATR-X syndrome and explore potential therapeutic approaches. Our patient registry and biosample collection efforts continue to provide important opportunities for families to contribute to research.
And this past April, we celebrated another milestone: our first in-person Scientific and Family Conference. Bringing families and researchers together was an incredible experience and a reminder of why this work matters so much.
Meaningful Progress in the Laboratory
One of the developments I’m most encouraged by is the collaboration between Drs. Allison Bradbury and David Picketts, whom ARA helped bring together to explore a potential gene therapy for ATR-X syndrome, an approach that aims to deliver a working copy of the gene to the cells that need it.
Their dual-vector gene therapy approach is now in preclinical development, with work underway on improved mouse models and a growing mouse colony to support the research.
This is real progress toward a potential therapeutic option for our community.
The researchers have continued moving the work forward through smaller funding opportunities and institutional resources. I’m deeply grateful for their commitment, particularly knowing how challenging it can be to advance research for an ultra-rare condition.
There is still a great deal of work ahead, but we have something important to build upon: scientific collaboration, a developing therapeutic approach, and researchers committed to seeing this work advance.
Five years in, our commitment is stronger than ever
As encouraging as this progress is, we still have an important challenge ahead. The preclinical phase of the gene therapy research program is not yet fully funded. Drs. Bradbury and Picketts have continued moving the work forward with the resources available to them while ARA works to secure the funding needed to fully support this first phase of research.
As a parent, I know that waiting is hard. We want to see research translate into therapeutic options that can improve our children’s lives today, not just for future generations.
For families living with ATR-X syndrome today, time matters.
That urgency is why we founded ARA, and why we have worked so hard over the past five years to build the relationships, research resources, and scientific collaborations that have brought us to this point. We didn’t want to wait for someone else to make ATR-X syndrome a research priority. We wanted to help make it happen.
And together, we have.
When we invest in research for our own condition, we demonstrate to researchers, donors, and future partners that this work matters and deserves their investment, too.
We will continue sharing what it will take to move this research forward.
For now, I want to thank you for being part of this journey. Your involvement, encouragement, and willingness to support this mission have helped us accomplish things that once seemed out of reach.
The Personal Story Behind Our Mission
Behind every research milestone is a family hoping for a better future.
For Ben and me, this journey began with our sons, Benjamin and Gabriel, and a belief that families could help drive scientific progress for ATR-X syndrome.
We’ve also shared a more personal reflection on the past five years, the people who believed in us from the beginning, and the extraordinary difference that community support has made.
The Personal Story Behind Our Mission
Behind every research milestone are families hoping for a better future.
For my husband Ben and me, this journey began with our sons, Benjamin and Gabriel, and a belief that we could help make ATR-X syndrome a greater priority for scientific research.
We’ve shared a personal reflection on the past five years, the people who believed in us from the beginning, and the extraordinary difference that community support has made.
Read Our Founders’ Personal Letter: Five Years Ago, We Started With Hope
Stay Connected
The progress we’ve made is encouraging, but there’s still much work ahead.
We invite you to stay connected as we share research developments, introduce the scientists helping move this work forward, and highlight opportunities for families and supporters to participate.
Subscribe to ARA’s NewsletterThank you for being part of this journey and helping us build on the momentum we’ve created together.
With gratitude,
Jennifer Martinez
Co-Founder and President
ATRX Research Alliance
Faith | Hope | Urgency
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