Sleep and Circadian Rhythms in Fragile X Mutant Drosophila

Ravi Allada, MD, at Northwestern University, FRAXA research grant

With an $80,000 grant from FRAXA Research Foundation over 2 years, Dr. Ravi Allada and his team studied at Northwestern University sleep behaviors in Fragile X fruit flies. These fruit flies are useful for several important reasons; not only do they have a good cognitive phenotype, they also have a clear disturbance of circadian rhythms. This is an important model for human hyperactivity and sleep disorders, and this group studied the underlying mechanisms in an effort to find treatments for the human conditions.

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FRAXA Contributes $10,000 to NIH grant to Seaside Therapeutics

Randall Carpenter, MD, at Massachusetts Institute of Technology, FRAXA research grant

Randy Carpenter, MD Principal Investigator with Mark Bear, PhD, MIT Co-Investigator (2007) conducted a clinical development of mGluR5 antagonists to treat Fragile X Syndrome and Autism. Seaside Therapeutics received a major grant from the NIH, with additional funding from FRAXA and Cure Autism Now (CAN) to develop STX107, a selective mGluR5 antagonist, as a treatment for Fragile X. Unfortunately, Seaside has since discontinued development of STX107.

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

Leonard Kaczmarek, PhD

With $80,000 in funding from FRAXA over several years, the Yale University team of Leonard Kaczmarek, PhD showed that loss of FMRP leads to an increased Kv3.1 potassium currents. This change impairs timing of action potentials in auditory neurons (and likely others throughout the brain).

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