Reactivating the Fragile X Gene in Young Mice Reverses Symptoms

December 28, 2021

A new FRAXA-funded research project offers hope that Fragile X syndrome could be treated by reactivating the gene which is shut down in people with the syndrome. Researchers at the University of California, Riverside report that they were able to reduce FXS symptoms by inserting the FMR1 gene into the brains of very young mice.

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Cholesterol-Dependent Changes in Fragile X Astrocytes

May 6, 2020

Astrocytes and cholesterol metabolism are altered in Fragile X. This research uncovers how these changes affect the brain and may reveal new treatment targets like lovastatin.

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Devon Binder, PhD; Iryna Ethell, PhD, Patricia Pirbhoy, PhD, at UC Riverside School of Medicine

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

June 20, 2018

This FRAXA grant studied why people with Fragile X are overly sensitive to sound and tested drug strategies to calm the brain’s overactive auditory circuits.

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Iryna Ethell UC Riverside, FRAXA researcher

Fragile X Syndrome Treatment Target: MMP-9

July 24, 2014

Dr. Ethell was awarded FRAXA Research Foundation funding from 2008-2011 and 2012-present. This latest work shows that human Fragile X tissues have elevated levels of the extracellular enzyme MMP-9, as well as an increase in the active fraction of that protein (like most enzymes, MMP-9 can exist in an inactive form which can be switched on rapidly; this kind of regulation is important in most biological pathways.)

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Effects of minocycline on vocal production and auditory processing in a mouse model of Fragile X

June 2, 2013

With FRAXA funding, Dr. Khaleel Razak and Dr. Iryna Ethell explored robust biomarkers relevant to the FXS and the efficacy of minocycline treatment.

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Iryna Ethell, PhD, at University of California

Role of Matrix Metalloproteinases (MMP-9) in Fragile X

February 2, 2009

With a $220,000 FRAXA grant, Dr. Iryna Ethell’s team at UC Riverside uncovered MMP-9’s role in Fragile X—leading to a major treatment strategy using minocycline.

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FRAXA Funded Research

Current Research Grants (39)