This is the first in a series of webinars focused on current topics in Fragile X research. In this webinar we hear from Alysson R. Muotri, PhD, Professor at University of California San Diego Stem Cell Programand Fabio C. Tucci, PhD, Chief Operating Officer and co-founder at Epigen Biosciences, Inc.
The team tested functional near-infrared spectroscopy (fNIRS). fNIRS uses light sources and sensors on the scalp to build a heat map of the brain in action.
Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.
A Fragile X clinical trial of a new PDE4D allosteric inhibitor from Tetra Therapeutics is nearly complete. Right now there are 3 remaining spots open to males 18-45 years of age with Fragile X syndrome. Dr. Elizabeth Berry-Kravis at the Rush University Medical Center in Chicago is leading this trial. The drug being studied has a unique mechanism of action that might improve cognitive and memory function.
With FRAXA funding, researchers tested AAV gene therapy to restore FMRP in Fragile X mice, measuring safety, effectiveness, and brain activity to inform future trials.
FRAXA funded a study using blood-based transcriptomics to find reliable Fragile X biomarkers. This unique approach links molecular data to behavior for future trials.
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.
According to Dr. Erickson, AZD7325 is a drug that selectively boosts GABA neurotransmission in the brain. GABA is the primary neurochemical in the brain that blocks brain activation. GABA activity is in balance in the brain with Glutamate activity, which is the primary neurochemical that causes brain activation. In Fragile X, GABA activity is insufficient and glutamate activity is excessive, likely causing brain activity to be out of balance. AZD7325 attempts to correct parts of this imbalance by boosting the insufficient GABA activity in the brains of people with Fragile X.
University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, explored drug combinations to limit hypersensitivity to sounds in Fragile X mice.
Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.
FRAXA Research Foundation awarded $122,000 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.
Ever wonder why your child with Fragile X suddenly screams for no apparent reason or jumps and flaps uncontrollably seemingly for hours? You got it: hyperexcitability. But what exactly causes it? And what can fix it? Kimberly Huber, PhD, is working long and hard in her lab to answer those questions. Dr. Huber, professor, Neuroscience, UT Southwestern Medical Center, is seeking to understand how FMRP regulates connections between brain cells, called synapses, and the function of brain circuits, which are several connected brain cells.
