FRAXA Research Foundation Joins COMBINEDBrain Consortium for Fragile X Biomarker Research

Fragile X Biomarker Research-hero

FRAXA Research Foundation is now a partner in the COMBINEDBrain consortium, a non-profit organization comprising over 60 patient advocacy groups focused on rare genetic neurodevelopmental disorders. Through this collaboration, we will assist in developing new Fragile X syndrome biomarkers. By contributing samples and participating in this project, you help researchers worldwide better understand Fragile X and develop effective treatments.

COMBINEDBrain's Mission and Impact

The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINED) is committed to accelerating clinical treatments for people with rare genetic neurodevelopmental disorders. They achieve this by pooling efforts, studies, and data from their member organizations.

Currently, COMBINEDBrain is on a mission to collect approximately 500 samples from member organizations over the next 6-8 months. These samples will be stored and made available to researchers worldwide, fostering collaboration and facilitating the discovery of new treatments.

COMBINEDBrain logo

Participate in Fragile X Syndrome Biomarker Research

If you or a family member is interested in participating in this groundbreaking project for Fragile X syndrome, here's what you need to know:

Who

Any participant diagnosed with Fragile X syndrome. We also need a handful of sibling and parent controls.

What

COMBINEDBrain will collect blood samples (processed for plasma and a finger stick) to be stored in the COMBINEDBrain Biorepository. These samples will be available for select biomarker projects and other interested researchers.

Where

COMBINEDBrain is collecting samples across the country this year. Please refer to the list of locations below to find the closest biorepository collection site to you. A blood draw location will be set up at each site. Conference attendance is not required. 

Sample Size

The goal is to include at least 20 individuals with Fragile X syndrome.

Cost

There is no cost involved for eligible participants in this research study.

How

To get involved,  please contact Katie Clapp at kclapp@fraxa.org. Thank you in advance!

Biorepository Collection Sites

  • June 23-24, 2023, CTNNB1 Research Conference (Madison, NJ)
  • June 23-25, 2023, DYRK1A Foundation Meetup Conference (Bethesda, MD)
  • July 19-21, 2023, KDVS Foundation (Orlando, FL)
  • July 21-23, 2023, STXBP1 Foundation (Westminster, CO)
  • July 30-August 2, 2023, Yellow Brick Road Project (Jacksonville, FL)
  • August 3-6, 2023, KAND (Queens, NY)
  • Potential: September 19-20, 2023, Global Genes (San Diego, CA)
  • September 22-23, 2023, IRF2BPL Foundation (Cincinnati, OH)
  • September 29-30, 2023, KCNQ2 Cure Alliance Conference (Chicago, IL)
  • October 5-7, 2023, Prader-Willi Syndrome/USP7 Foundation (Denver, CO)
  • October 11-14, 2023, TBRS Foundation (San Antonio, TX)
  • October 15-16, 2023, COMBINEDBrain Meeting (Washington DC)
  • October 30-November 1, 2023, ADNP Syndrome (Los Angeles, CA)
  • Potential: November 2023, FAST Angelman (Orlando, FL)
  • December 1-3, 2023, SYNGAP1 Research Fund (Orlando, FL)
  • December 1-3, 2023, SLC6A1 Connect (Orlando, FL)

Global Leader in Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

Explore Current Research Grants
Help Fund the Cure

Global Leader in Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

Explore Current Research Grants
Help Fund the Cure