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

September 11, 2025

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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Lynne Maquat

FRAXA Investigator Lynne Maquat Awarded 2023 Gruber Genetics Prize

March 8, 2023

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

September 30, 2021

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

February 3, 2021

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

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

September 8, 2016

With a $90,000 grant from the FRAXA Research Foundation, Dr. Lynne Maquat and Dr. Tatsuaki Kurosaki will investigate nonsense-mediated mRNA decay (NMD) in Fragile X. NMD is a “housekeeping” process that cells use to prevent faulty proteins from being made. But there is too much of it in Fragile X syndrome. There are already available drugs that suppress NMD – including caffeine.

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FRAXA Funded Research

Current Research Grants (37)