Maquat, Lynne

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Small-Molecule Inhibitors of Nonsense-Mediated mRNA Decay (NMD) for Fragile X Syndrome

This project tests whether small-molecule drugs that reduce overactive nonsense-mediated mRNA decay (NMD) can restore normal gene regulation in Fragile X cells.

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Lynne Maquat and Christoph Pröschel standing in a University of Rochester laboratory.

Circular RNA Delivery of FMRP in a Human Neurodevelopmental Model of Fragile X Syndrome

FRAXA-funded researchers explore circular RNA to restore FMRP in Fragile X syndrome, working toward a non-viral treatment that could allow repeat dosing.

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Lynne Maquat

FRAXA Investigator Lynne Maquat Awarded 2023 Gruber Genetics Prize

Dr. Maquat discovered NMD, a key surveillance system in the body that protects against mistakes in gene expression. With funding from FRAXA she is tackling Fragile X syndrome.

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Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

Lynne Maquat discovered that many irregularities in cells that lack FMRP are due to misregulated nonsense-mediated mRNA decay, or NMD. Results published.

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Neuronal synapse illustration showing neurotransmitter release, symbolizing how BK channel openers restore balance in Fragile X syndrome.

BK Channel Openers: From FRAXA Seed Funding to Big Pharma Investment and Trials

See how FRAXA’s early grants propelled Fragile X research from lab discoveries to industry momentum, with partners advancing therapies into trials.

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Inhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X

This team previously discovered runaway nonsense-mediated mRNA decay (NMD) in cells of Fragile X patients. They will now test drugs to reduce NMD.

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Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome

FRAXA-funded research showed nonsense-mediated mRNA decay is overactive in Fragile X, pointing to existing NMD-suppressing drugs like caffeine as potential treatments.

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Fragile X Nervous (System) Breakdown

Dr. Lynn Maquat’s research shows Fragile X disrupts neuron maturation and RNA regulation, impairing brain signaling—pointing to new targets like NMD for drug development.

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2023 Fragile X Research Banbury Meeting (1)

Breakthrough Discoveries in Fragile X Research: Insights from Special Banbury Meeting on Curative Therapies

Explore the latest breakthroughs in Fragile X research unveiled at the recent Banbury Meeting. Discover novel strategies, from gene therapy to protein replacement, that bring hope for curative therapies.

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Bruins $90,000 donation to FRAXA for Fragile X research grant

Boston Bruins Grant Funds New Fragile X Research

The Bruins Foundation pledged $90K to FRAXA, funding new Fragile X research at Gateway Farm in Merrimac, MA.

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About FRAXA Research Foundation

FRAXA Research Foundation’s mission is to find effective treatments and ultimately a cure for Fragile X syndrome. FRAXA Research Foundation directly fund research grants and fellowships at top universities around the world. We partner with biomedical and pharmaceutical companies, large and small, to bridge the gap between research discoveries and actual treatments.

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2023-05 — Banbury Meeting – Fragile X Agenda

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2022-10 FRAXA Research Foundation Impact Report

2022-10 FRAXA Research Foundation Impact Report

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FRAXA Funded Research

Current Research Grants (43)