Potassium Channel Modulators to Treat Fragile X

FRAXA-backed Yale discoveries tied Fragile X to Kv3.1/Slack channel defects—leading to a partnership with Autifony to develop targeted treatments.

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

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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Christopher Cowan, PhD

Reward Function in Fragile X Syndrome

Loss of FMRP disrupts dopamine-driven reward function—Fragile X mice show impaired cocaine sensitization and place preference, revealing new plasticity defects.

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Andreas Frick, PhD

Inherited Channelopathies in Cortical Circuits of Fmr1 KO Mice

Researchers found that Fragile X brain circuits show faulty ion channel activity (channelopathies). Fixing these channels may restore normal brain signalling.

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Compound that Inhibits mGluR5 Corrects Signs of Fragile X in Adult Mice

A Roche and MIT study published in Neuron finds that an mGlu5 inhibitor, CTEP, can reverse many Fragile X symptoms in adult mice.

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GABAergic Inhibitory Function in Fragile X Syndrome

Fragile X mice show weakened GABAergic inhibition in key brain regions like the amygdala. Enhancing GABA_A receptor activity reduced hyperactivity and improved inhibition.

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Taurine and Somatostatin as Potential Treatments for Fragile X Syndrome: A Unifying Neuro-Endocrine Hypothesis

Dr. Abdeslem El Idrissi’s FRAXA-funded study tested somatostatin and taurine in Fragile X mice, revealing taurine’s promise as an accessible therapy.

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Jay Gibson, PhD, at University of Texas at Southwestern, FRAXA research grant

Decreased Excitatory Drive onto Parvalbumin-Positive Neocortical Inhibitory Neurons in a Mouse Model of Fragile X Syndrome

Drs. Jay Gibson and Kimberly Huber used FRAXA funding to uncover whether disrupted brain inhibition drives Fragile X, paving the way for targeted therapies.

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Leonard Kaczmarek, PhD

Electrophysiological, Biochemical and Immunohistochemical Characterization of Kv3.1 in Auditory Brainstem Nuclei in the Fragile X Knockout Mouse

Dr. Leonard Kaczmarek’s Yale lab revealed how Fragile X disrupts potassium channels, impairing auditory processing and fueling sensory overload.

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Alcino Silva, PhD

Prepulse Inhibition in Fragile X

With $27K from FRAXA, Dr. Alcino Silva studied prepulse inhibition in Fragile X mice and children, linking lab findings to real-world behavior.

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Synaptic Plasticity and Olfactory Learning in Fragile X

With $40K from FRAXA, Dr. John Larson’s UIC team used mice’s sense of smell to study memory, learning, and Fragile X–related brain function.

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FRAXA Funded Research

Current Research Grants (41)