Jeannie Lee, MD, PhD and Chloe Chen, PhD

Modeling R-Loop Therapy for Fragile X Syndrome in Patient-Derived Brain Organoids

July 18, 2025

Fragile X syndrome researchers model R-loop therapy in patient-derived brain organoids to restore FMR1, accelerating a curative approach supported by FRAXA.

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Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

November 7, 2023

This project aims to reactivate the FMR1 gene to combat Fragile X Syndrome, with the goal of restoring vital protein function. This work is now funded by a new FRAXA grant.

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Antisense Oligonucleotides (ASOs) to restore FMRP in Human Fragile X Cerebral Organoids

August 24, 2023

Explore Dr. Richter’s encouraging results with ASOs for Fragile X syndrome. A $100,000 grant now fuels pivotal studies needed to advance toward ASO therapy.

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Unraveling Fragile X Syndrome: New Insights into FMR1 Gene Reactivation

June 20, 2023

Discover groundbreaking methods for reactivating the FMR1 gene in Fragile X syndrome. Dive into the transformational research and the implications of self-healing at a cellular level.

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Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

November 20, 2022

A $200K FRAXA grant enabled a successful Phase 2 trial of a PDE4D inhibitor for adult men with Fragile X, showing strong cognitive gains without side effects or tolerance.

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Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

March 5, 2022

Dr. Carol Wilkinson, MD PhD at Boston Children’s Hospital is recruiting children ages 2-7 years with Fragile X syndrome to participate in a study of EEG.

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Alternative Splicing in White Blood Cells: A Biomarker for Fragile X Syndrome

September 2, 2021

This team found 1,600 blood-based Fragile X biomarkers that vary by individual—opening the door to personalized treatment and better ways to measure progress.

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Deep Molecular Profiling of Fragile X

Deep Molecular Profiling of Fragile X Mouse and Human Cells

September 5, 2019

Studying human Fragile X neurons from stem cells revealed key gene changes not seen in mice—showing why some treatments failed and guiding better future therapies.

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Nazim Kourdougli and Carlos Portera-Cailleau

Correcting Sensory Processing in Fragile X Mice by Modulating Kv3.1

June 19, 2019

FRAXA funded UCLA research on a Kv3.1-targeting drug to ease sensory issues in Fragile X. This work built on Yale-led work now also being pursued by Autifony Therapeutics.

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Stephanie Barnes, PhD

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

March 7, 2019

FRAXA-backed work revealed NMDA receptors may hold the key to correcting brain signaling in Fragile X, pointing to new treatment strategies.

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Kathan Pierce Honored as a New England Patriots Difference Maker

January 7, 2019

FRAXA Board Member Kathan Pierce was honored by the Patriots & Robert Kraft for her volunteerism. The team also awarded FRAXA a $5K grant!

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2018 Hope for the Holidays

Hope for the Holidays Gala Helps Advance Fragile X Research

December 12, 2018

The sold-out Hope for the Holidays Gala raised $100K for FRAXA! Huge thanks to the Pierces for their continued generosity and support.

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Kathan Pierce Named Patriots Difference Maker of the Week!

September 28, 2018

FRAXA’s Kathan Pierce, co-founder of The Pierce Family Fragile X Foundation, is the 2018 Patriots Difference Maker of the Week!

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Patrick McCamphill

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

May 9, 2018

FRAXA funded MIT work to probe tolerance to key Fragile X drugs, including mGluR5 inhibitors and arbaclofen, and to identify ways to sustain long-term treatment benefits.

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Fragile X Conference

FRAXA Funded Researchers Present at MA Fragile X Conference

April 9, 2018

Boston Children’s Hospital hosted a Fragile X conference with FRAXA-funded researchers Dr. Craig Erickson & Dr. Carol Wilkinson presenting.

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Takeaways from Fragile X Advocacy Day

March 29, 2018

At my first Fragile X Advocacy Day, I met with Congress and families, advocating together for research and hope.

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2017 Fragile X Research Grant: MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

September 30, 2017

The team studied how glial cells, especially astrocytes, affect Fragile X. They tested microRNAs to restore GLT1 and reduce excess glutamate linked to brain hyperexcitability.

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Investigating Gene Reactivation to Treat Fragile X Syndrome

September 22, 2017

With a $180,000 grant from FRAXA Research Foundation, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.

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Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

August 17, 2017

Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.

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Dr. Kimberly Huber

A Developmental Switch Exists in the Effects of FMRP

September 19, 2012

Fragile X research found that FMRP’s role in synapse development changes with age—early on it builds synapses, later it removes them—via MEF2 signaling.

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FRAXA Funded Research

Current Research Grants (38)