Curative Therapies for Fragile X: Advancing Gene and Protein Treatments
Curative therapies are one of FRAXA’s highest priorities, representing a focused effort to move beyond symptom management and toward lasting change for individuals with Fragile X syndrome.
Gene therapy, gene editing, mRNA delivery, protein replacement, and antisense oligonucleotides (ASOs) are leading the way. These approaches address the underlying cause of Fragile X. They are bold, innovative, and focused on long-term solutions.
This kind of work doesn’t start from zero. Years of FRAXA-funded research have built the foundation. Now, with better tools and deeper understanding, today’s projects are moving faster and with more precision, bringing curative strategies closer to reality.
Funding Opportunities for Researchers
The Curative Therapies Research Program offers flexible grants of up to $100,000 per year, with applications accepted on a rolling basis. There are no rigid structures. Projects can support principal investigators, trainees, supplies, or specialized tools, as long as the focus is clear: developing effective therapies for Fragile X.
Visit the FRAXA Grant Application page to learn more and get started.
Changing the Future of Fragile X
Curative therapies are already reshaping the research landscape in Fragile X syndrome.
By advancing this work, we are helping build a future where effective, durable treatments are within reach.
You can help accelerate this progress. Every donation brings these therapies closer to reality, turning scientific promise into real hope for families living with Fragile X.
Gratitude for the Families Driving Curative Research Forward
We are deeply grateful to the Dailey, Gale, Schatz, Berg, Pierce and Schutz families, whose extraordinary efforts have helped push FRAXA’s curative therapies program forward. These families have not only shared their journeys with Fragile X but have also raised significant funds to accelerate research with the greatest potential for lasting impact.
Collectively, these families have raised over $400,000 to help bring new treatments for Fragile X closer to reality.
Their generosity and determination inspire everything we do. Together, we are moving toward a future where curative treatments — and ultimately a cure — are within reach.
Help Turn Hope Into a Cure for Fragile X
“We’re on the brink of huge breakthroughs. Every donation to FRAXA fuels research that brings us closer to answers for families like ours and offers hope for a future free from Fragile X.”
Erich and Lexie Schutz
Advancing Curative Therapies
Below, you’ll find the most recent FRAXA-funded research exploring innovative strategies to restore or replace FMRP. From gene reactivation to mRNA and ASO therapies, these projects represent real momentum and real hope.
Can CRISPR Cure Fragile X Syndrome?
CRISPR/Cas9 was used by MIT researchers to remove the molecular tags that keep the mutant gene shut off in Fragile X syndrome neurons and resulted in some of them producing protein normally. Much work is being done right now, with exciting new discoveries coming at a fast and furious pace.
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CRISPR Reactivation of the Fragile X Gene
“We are trying to target the first event that goes wrong in Fragile X syndrome”, says Todd, “One reason our previous attempts to develop treatments for Fragile X syndrome have failed is that they’ve tried to target the downstream effects of losing the Fragile X protein. The protein does many things… bypassing all the functions that it normally takes care of has proven difficult from a pharmacologic perspective.”
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Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells
With a $90,000 grant from FRAXA Research Foundation awarded in 2016, University of Michigan researcher Peter Todd, MD, PhD, is using CRISPR to selectively turn the Fragile X gene back on in stem cells.
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Investigating Gene Reactivation to Treat Fragile X Syndrome
With a $180,000 grant from FRAXA Research Foundation from 2016-2017, 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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The X Factor – Turning on X Chromosome Genes to Treat X-linked Disorders
Harvard researcher Jeannie T. Lee, MD, PhD, moves closer to turning on select genes on the X chromosome to treat people with X-linked disorders.
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Small Molecules To Target r(CGG) Expansions to Treat Fragile X Syndrome
With a 2-year, $90,000 grant from FRAXA Research Foundation, Dr.’s Matthew Disney and Wang-Yong Yang worked to correct the underlying problem in Fragile X: the silencing of the Fragile X gene (FMR1) and the resulting lack of FMRP (Fragile X Mental Retardation Protein). Their approach was to use novel small molecules to target the abnormal CGG repeats before the FMR1 gene.
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Developing IPS cells to Screen Drugs which can Reactivate the FMR1 Gene
With $146,000 grant from FRAXA Research Foundation over 2012-2013, Drs. Anita Bhattacharyya and Xinyu Zhao at the University of Wisconsin developed a new mouse model of Fragile X syndrome which will enable testing of gene reactivation and gene therapy approaches to treatment. They transplanted human Fragile X neural cells differentiated from induced pluripotent stem cells into brains of neonatal mice and then testing for FMR1 reactivation. In 2015, The John Merck Fund assumed support for this work with a generous grant of $750,000 to the scientists. Results published.
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Reactivating the FMR1 Gene
With a $171,600 grant from FRAXA Research Foundation from 1998-2004, Dr. Andre Hoogeveen and his team at Erasmus University researched methods to reactivate the Fragile X gene.
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FMR1 Gene Delivery Using Herpes Simplex Virus Vectors
With $89,000 from FRAXA Research Foundation over 2001-2005, Dr. David Bloom investigated gene therapy for Fragile X. The Bloom lab specializes in the development of gene therapy techniques, and they have succeeded in transferring the Fragile X gene (fmr1) into the brains of live mice, using viral vectors. They studied ways to enhance this process, with the ultimate goal of gene therapy for people with Fragile X.
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