Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome

Enhancement of NMDA Receptor Signaling for the Treatment of Fragile X Syndrome
FRAXA Research Foundation funded a 2016-2017 Fellowship for Dr. Stephanie Barnes in the University of Edinburgh lab of Dr. Emily Osterweil. With this $90,000 award, the team is investigating NMDA signaling in fragile X syndrome mice. $90,000 GrantEmily Osterweil, PhD Principal Investigator Stephanie Barnes, PhD FRAXA Postdoctoral Fellow University of Edinburgh 2016-2017 FRAXA Research Grant $90,000 over 2 Years A Neuron to Remember: Correcting Imbalances in Fragile X SyndromeUniversity of Edinburgh Researcher Emily Osterweil, PhD, Probes the Brain’s Biochemistry to Correct Imbalances We know the “X” in Fragile X refers to the X chromosome, but it could just as easily refer to the unknown.Such as why do people with Fragile X have an excessive production of new proteins in their brains that lead to imbalances? That question is being dissected in the lab of Emily Osterweil, PhD, chancellor’s fellow, Centre for Integrative Physiology, University of Edinburgh, UK. Dr. Osterweil is usingRead more

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

Fragile X Cure One Step Closer with FRAXA Support of $1 Million in New Research
4 Countries – 10 Teams – $1 Million From 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. Improving Clinical Trials Many parents of children with Fragile X know well the struggles of getting their children to sleep through the night. Mice and fruit flies engineered to mimic Fragile X Syndrome also have disrupted sleep. Drs. Westmark and Smith will test potential therapeutics in mice using sleep as an outcome measure and investigate whether sleep could be used as an outcome measure for future clinical trials. The search is on for a simple blood test to measure how well a treatment works for an individual with Fragile X. Dr. Frank Kooy's team investigates. Testing Treatment Targets One of the goals of FRAXA’s research program has been to find biological pathwaysRead more

Seizures in Fragile X Syndrome and Therapeutic Potential of NMDA Receptor Antagonists

Seizures in Fragile X Syndrome and Therapeutic Potential of NMDA Receptor Antagonists
With a $90,000 grant from the FRAXA Research Foundation, Dr. Robert Wong is investigating how seizures are generated in Fragile X neurons. More generally, he is looking at how synapses are modified to enable learning and memory and how this process is impaired in Fragile X. $90,000 Grant Robert Wong, PhD Principal Investigator State University of New York 2013-2014 FRAXA Research Grant $90,000 over 2 Years Abnormal increases in sensitivity of a type of glutamate receptor (group I mGluR) cause brain malfunction, including epilepsy, in Fragile X syndrome (FXS). We are examining a newly uncovered regulation of this increased group I mGluR sensitivity by a second type of glutamate receptor, the NMDA receptor. By looking at audiogenic seizures in FXS model mice, NMDA receptor blockers were found to robustly suppress these seizures at the young developmental stage. In contrast, the same antagonists activated seizure activities, normally dormant, in adult FXS model mice and in a CGGRead more

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

Social Behavior as an Outcome Measure for Fragile X Clinical Trials

One of the features of the Fragile X mouse model which is relevant to the human Fragile X syndrome (and autism) is social behavior. Several tests show consistent social behavioral abnormalities in the Fragile X mouse model. With a $140,000 grant from FRAXA Research Foundation in 2012-2013, Dr. Willemsen at Erasmus University used social behavior tests to measure the effectiveness of several drug strategies.

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