Dr. Kimberly Huber

Kimberly Huber, PhD, Explores Hyperexcitability in Fragile X Syndrome

September 6, 2016

What causes hyperexcitability? Dr. Kimberly Huber seeks to understand how FMRP regulates connections between brain cells and the function of brain circuits.

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Dr. Jonny Lovelace and Dr. Khaleel Razak

Meltdown no more? Targeting Hypersensitivity in Fragile X

June 5, 2016

Meet Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, FRAXA-funded researchers at University of California, Riverside who are tackling Fragile X.

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FRAXA funds 1 million in Fragile X research

Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research

April 26, 2016

4 Countries – 10 Teams – $1 Million for finding new treatment targets, to pinpointing outcome measures for future clinical trials, to attempting to reactivate the gene which is silenced in Fragile X syndrome, these innovative scientists will bring us closer to a cure.

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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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Christopher Cowan, PhD

Reward Function in Fragile X Syndrome

September 2, 2012

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

August 22, 2012

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

April 13, 2012

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

February 1, 2011

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

March 21, 2007

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

February 6, 2007

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

January 9, 2007

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

June 27, 2001

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

February 26, 2000

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 (38)