ATRX Research Alliance

06/07/2025

This is exciting news for the ATR-X community. More to come, stay tuned!

SFARI | SFARI to Fund 18 Patient Advocacy Group Conferences on SFARI

05/10/2025

Today We Shine a Light on ATR-X Syndrome – Awareness Day 🌟

On this important day of awareness, we invite families around the world to be part of something truly meaningful. By joining the patient registry at Simons Searchlight, you’re helping unlock a deeper understanding of ATR-X Syndrome—fueling the research that brings us closer to life-changing treatments.

🌍 No matter where you live, your voice matters. Together, as one global community, we can push boundaries and move the needle forward for our loved ones. We're all in this sandbox together—let’s build something better.

The registry is open in multiple languages:
English, Dutch, French, German, Italian, Portuguese, and Spanish
Register at: simonssearchlight.org

If you’re able to donate a blood sample, your contribution will make a powerful difference in advancing scientific discovery. To learn more, contact:
📩 coordinator@simonssearchlight.org
📩 info@atrxresearch.org

With heartfelt thanks to our amazing partners at Simons Searchlight, our Scientific Advisors, and our dedicated Board of Directors—your support is creating real, lasting change for the ATR-X community.

Together, hope grows stronger. 💙

05/09/2025

May 9th is “Remembrance Day” in our community—a sacred moment to pause, reflect, and remember.
Today, our hearts come together as we honor the beautiful souls who left us far too soon. These beloved members of our community may no longer walk beside us, but their presence is deeply felt in every memory, every lesson, and every moment of courage they shared.

We remember them with love—grateful for the strength they showed, the light they gave, and the inspiration they continue to be. Their legacy is not forgotten. It lives on in each of us.

Today, we shine a light in their memory, sharing images of some of our recent members—though we know so many treasured faces are not pictured, they are held just as tightly in our hearts.

03/15/2025

It is with a heavy heart that we share this news. Our patient community has lost two more members in the last two weeks. Dearest Adrijan was only 17 years old. We are all so heart broken at this news and our thoughts and prayers are with the families who are enduring the loss of their beloved children. We also have another who is still in the hospital fighting for his life.

Please send all your positive thoughts as our community is shaken by this surge of illness. To all of the prayer warriors out there, please join us in lifting up these families, and the patient community in prayer.

Sincerely,

Jennifer and the ARA team

02/28/2025

Today is Rare Disease Day.

According to some studies 300 Million people globally, nearly the population of the US, are affected by rare diseases. Those of us in this world know, however, that it often feels like you are alone in this fight.

We are thankful to Rebekah Tillotson, and the Institute of Genetics and Cancer for highlighting our condition on their blog and our mission for ATRX Research Alliance, working on advancing research into scientific knowledge and therapeutic treatments associated with this syndrome. We are also so very grateful to Professors Richard Gibbons, and Takahito Wada for all of their extraordinary work on this ultra rare condition.

You can read the blog post by clicking on the provided link below:

https://blogs.ed.ac.uk/institute-genetics-cancer/2025/02/27/spotlight-on-atr-x-syndrome-for-rare-disease-day-2025/


If you have a family member who has ATRX, consider donating samples to continue driving the research forward. -Donation link is in the comments

If not and you feel called, consider donating to ARA to help continue moving the science forward. There are many conditions and communities to support on this very important day of advocacy, if you choose ours, we'd be grateful.

Want to join the team, reach out! info@atrxresearch.org

With appreciation,

ARA









https://blogs.ed.ac.uk/institute-genetics-cancer/2025/02/27/spotlight-on-atr-x-syndrome-for-rare-disease-day-2025/

https://atrxresearch.org/

https://give.rarevillage.org/give/448928/ #!/donation/checkout

With Ben Harris and Jennifer Martinez-Harris, ATRX Research Alliance (a parent-led global group of families committed to accelerating research)

02/28/2025

Today is Rare Disease Day.

According to some studies 300 Million people globally, nearly the population of the US, are affected by rare diseases. Those of us in this world know, however, that it often feels like you are alone in this fight.

We are thankful to Rebekah Tillotson, and the Institute of Genetics and Cancer for highlighting our condition on their blog and our mission for ATRX Research Alliance, working on advancing research into scientific knowledge and therapeutic treatments associated with this syndrome. We are also so very grateful to Professors Richard Gibbons, and Takahito Wada for all of their extraordinary work on this ultra rare condition.

You can read the blog post by clicking on the provided link below.
https://blogs.ed.ac.uk/institute-genetics-cancer/2025/02/27/spotlight-on-atr-x-syndrome-for-rare-disease-day-2025/

If you have a family member who has ATRX, consider donating samples to continue driving the research forward.

If not and you feel called, consider donating to ARA to help continue moving the science forward. There are many conditions and communities to support on this very important day of advocacy, if you choose ours, we'd be grateful.

Want to join the team, reach out! info@atrxresearch.org

With appreciation,

ARA









https://blogs.ed.ac.uk/institute-genetics-cancer/2025/02/27/spotlight-on-atr-x-syndrome-for-rare-disease-day-2025/

https://atrxresearch.org/

https://give.rarevillage.org/give/448928/ #!/donation/checkout

With Ben Harris and Jennifer Martinez-Harris, ATRX Research Alliance (a parent-led global group of families committed to accelerating research)

02/20/2025

✨ Your annual updates to Simons Searchlight help researchers understand how ATR-X Syndrome evolves over time, benefiting families like yours. 📊 We regularly add new surveys to the study, and some are repeated each year, including a follow-up medical history survey. By sharing your journey annually, you support future research and inspire hope in others.
🌟 We encourage you to continue your journey with Simons Searchlight and join our growing community. Together, we can uncover new insights and foster hope for the future.
Visit your dashboard to share updates and complete surveys: http://bit.ly/Simons_Searchlight_Dashboard


✨ Uw jaarlijkse updates voor Simons Searchlight helpen onderzoekers te begrijpen hoe ATR-X Syndroom zich in de loop der tijd ontwikkelt, wat ten goede komt aan families zoals de uwe. 🌟 We voegen regelmatig nieuwe vragenlijsten toe aan het onderzoek en sommige worden elk jaar herhaald, waaronder een vervolgvragenlijst over de medische geschiedenis. Door uw reis jaarlijks te delen, steunt u toekomstig onderzoek en inspireert u anderen tot hoop.
We moedigen u aan om uw reis met Simons Searchlight voort te zetten en u aan te sluiten bij onze groeiende gemeenschap. Samen kunnen we tot nieuwe inzichten komen en hoop voor de toekomst koesteren.
Ga naar uw dashboard om updates te delen en vragenlijsten te voltooien: www.bit.ly/Simons_Searchlight_Dashboard


✨ Les mises à jour annuelles que vous transmettez à Simons Searchlight aident les chercheurs à comprendre comment Sindrome ATR-X évolue au fil du temps, au bénéfice de familles comme la vôtre. 🌟 Nous ajoutons régulièrement de nouvelles enquêtes à l’étude, et certaines sont répétées chaque année, notamment une enquête de suivi des antécédents médicaux. En partageant votre parcours tous les ans, vous soutenez la recherche future et insufflez de l’espoir aux autres.
Nous vous encourageons à poursuivre votre voyage avec Simons Searchlight et à rejoindre notre communauté grandissante. Ensemble, nous pouvons découvrir de nouvelles perspectives et entretenir l’espoir pour l’avenir.
Consultez votre tableau de bord pour partager des mises à jour et répondre à des enquêtes : http://bit.ly/Simons_Searchlight_Dashboard

✨ Sus actualizaciones anuales de Simons Searchlight ayudan a los investigadores a comprender cómo Sindrome ATR-X evoluciona con el tiempo, beneficiando a familias como la suya. 🌟 Con regularidad agregamos nuevas encuestas al estudio, y algunas se repiten cada año, incluyendo una encuesta de seguimiento de la historia médica. Compartiendo su proceso anualmente, apoya la investigación futura e inspira esperanza en otros.
Lo animamos a continuar su proceso con Simons Searchlight y unirse a nuestra creciente comunidad. Juntos podemos descubrir nuevos conocimientos y fomentar la esperanza para el futuro.
Visite su panel de control para compartir actualizaciones y completar encuestas: http://bit.ly/Simons_Searchlight_Dashboard

02/18/2025

✨ Donate an optional blood sample to create valuable research resources for ATR-X Syndrome, including DNA and cell lines.
🩸 This simple step can have a big impact on global research. By providing your anonymous sample, you'll help qualified researchers unlock new insights. Prefer not to donate? You can still contribute by completing surveys and earn gift card rewards!

**Do you reside outside the US, but are interested in donating a sample? Please contact us! Though we do not have contracts with labs outside the US, we are willing to attempt to collect the blood sample if you are!

Contact info@atrxresearch.org and one of our ambassadors will assist you! Let your variant be represented in our research biobank!

02/16/2025

✨ Complete all assigned research surveys and add your voice to research that matters! Every survey you complete with Simons Searchlight helps researchers uncover new insights into ATR-X Syndrome, from development to behavior.
🧬📊 For specific surveys, Simons Searchlight provides you with individualized reports to show how your child compares to others with ATR-X Syndrome which can be shared with doctors and schools.
💙 BONUS: Receive gift cards for completing research surveys!
Are you a participant ready to complete this task? Go to http://bit.ly/Simons_Searchlight_Dashboard
*Not a Simons Searchlight participant? Sign up at http://www.SimonsSearchlight.org


✨ Vul alle toegewezen onderzoeksvragenlijsten in en laat uw stem horen over onderzoek dat er toe doet! Elke vragenlijst die u voor Simons Searchlight voltooit, helpt onderzoekers nieuwe inzichten te krijgen inATR-X Syndroom, van ontwikkeling tot gedrag. 🧬✨ Voor specifieke vragenlijsten biedt Simons Searchlight u een geïndividualiseerd rapport dat laat zien hoe uw kind zich verhoudt tot anderen met ATR-X Syndroom. Dit rapport kan worden gedeeld met artsen. Als dank ontvangt u ook een cadeaubon voor uw tijd.
Bent u als deelnemer klaar om deze taak te voltooien? Ga naar http://bit.ly/Simons_Searchlight_Dashboard
*Geen Simons Searchlight-deelnemer? Meld u aan op http://www.simonssearchlight.org.


✨ Répondez à toutes les enquêtes de recherche qui vous sont attribuées et faites entendre votre voix pour une recherche qui compte ! Chaque enquête à laquelle vous répondez avec Simons Searchlight aide les chercheurs à découvrir de nouvelles informations sur Sindrome ATR-X , depuis son développement jusqu’à son comportement. 🧬✨ Pour certaines enquêtes, Simons Searchlight vous fournit un rapport individualisé indiquant où votre enfant se situe par rapport aux autres pour ce qui est de Sindrome ATR-X . Ce rapport peut être communiqué aux médecins. En guise de remerciement pour votre temps, vous recevrez une carte-cadeau.
Vous êtes un participant prêt à accomplir cette tâche ? Allez sur http://bit.ly/Simons_Searchlight_Dashboard
*Vous n’êtes pas participant chez Simons Searchlight ? Inscrivez-vous sur http://www.simonssearchlight.org


✨ Complete todas las encuestas de investigación asignadas y sume su voz a las investigaciones que importan. Cada encuesta que complete con Simons Searchlight ayuda a los investigadores a descubrir nuevos conocimientos sobre Sindrome ATR-X, desde el desarrollo hasta el comportamiento. 🧬✨ Para encuestas específicas, Simons Searchlight le da un reporte individualizado para mostrar cómo se compara su hijo con otros con Sindrome ATR-X que se puede compartir con los médicos. Además, como agradecimiento, recibirá una tarjeta de regalo por su tiempo.
¿Es usted un participante preparado para completar esta tarea? Visite http://bit.ly/Simons_Searchlight_Dashboard
*¿No es un participante de Simons Searchlight? Regístrese en http://www.simonssearchlight.org