EEG Archives • Fragile X Research - FRAXA Research Foundation

Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

FRAXA Research Foundation 2018 Grants • Biomarkers • Carullo, Paulina • Cogram, Patricia • Current Research Grants • Scripps Research Institute • Vanderklish, Peter October 31, 2018November 19, 2018EEG, FRAXA-DVI, mRNAs

With this $20,000 award from FRAXA Research Foundation, Dr. Vanderklish and collaborators at Scripps Research Institute, the University of Chile, and the FLENI Institute in Argentina are analyzing patterns in gene expression in blood cells of patients with Fragile X syndrome. They are using “transcriptomics” which can produce a time-sensitive signature of an individual person which is even more detailed than genomics. This is the first time that all these different levels of study – from transcriptomics to behavior – have been done for individual patients with Fragile X. The hope is that they will obtain reliable new molecular biomarkers in platelets.

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • Binder, Devin • Current Research Grants • Ethell, Iryna • Pirbhoy, Patricia • Treatment Targets • University of California at Riverside June 20, 2018June 20, 2018EEG, endocannabinoid, hyperexcitability, hypersensitivity, matrix metalloproteinase, minocycline, MMP9, sound

With a $90,000 grant from FRAXA Research Foundation over 2018-2019, Drs. Devin Binder, Iryna Ethell, and Patricia Pirbhoy at the University of California at Riverside aim to understand – and reverse – hypersensitivity to sound in Fragile X syndrome.

FRAXA Funded Researchers Present at MA Fragile X Conference

FRAXA Research Foundation Erickson, Craig • Events Recap • Wilkinson, Carol April 9, 2018November 13, 2018AstraZeneca, AZD7325, EEG, Pierce Family Fragile X Foundation

On Saturday Boston Children’s Hospital (BCH) hosted a Fragile X educational conference, Success Strategies for Individuals and Families Impacted by Fragile X and two of our funded researchers, Dr. Craig Erickson, and Carol Wilkinson, MD, PhD, presented giving an update on their current Fragile X clinical trials. Both being funded by FRAXA.

Now Recruiting: Clinical Study of EEG for Young Boys at Boston Children’s Hospital

FRAXA Research Foundation Clinical Trials • Recruiting • Research Updates March 27, 2018July 10, 2018autism, EEG, Pierce Family Fragile X Foundation, sound

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at the Labs of Cognitive Neuroscience at Boston Children’s Hospital are recruiting young boys with Fragile X syndrome (FXS) to participate in a study investigating how differences in brain activity affect learning, language, and behavior in FXS. If we can determine what distinguishes one brain from another, and if a drug works with a particular neural marker or set of neural markers, this would permit matching drugs based on objective biological markers, a personalized medicine, rather than defaulting to the current method of trial and error.

Neural Markers of Cognitive, Language and Behavioral Deficits in Children with Fragile X

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Harvard University • Nelson, Charles A. • Recruiting • Wilkinson, Carol March 16, 2018August 22, 2018autism, EEG, Pierce Family Fragile X Foundation

This 2017 grant of $90,000 over two years enabled Dr. Wilkinson to study EEG in young children with Fragile X syndrome at Boston’s Children’s Hospital. She is working with principal investigator, Dr. Charles Nelson, Professor of Pediatrics at Harvard Medical School and a specialist in cognitive neuroscience. Co-funded by the Autism Science Foundation and the Pierce Family Fragile X Foundation.

In Their Own Words: Reports From the International Fragile X Workshop

FRAXA Research Foundation Cogram, Patricia • Contractor, Anis • Events Recap • Kooy, Frank • Lee, Jeannie • McGill University • Moine, Herve • Razak, Khaleel • Research Updates • Smith, Carolyn B. • Sonenberg, Nahum • Todd, Peter • Vanderklish, Peter October 29, 2017June 18, 2018amygdala, autism, bumetanide, DgkK, drug repurposing, EEG, ERK, FDA, Fragile X Meeting, GABA, ganaxolone, glutamate, hyperexcitability, hypersensitivity, metformin, mGluR5, minocycline, mRNAs, Rett syndrome, seizure, sleep, sound

The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring Fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words. These brief updates from researchers investigating Fragile X.

Brain Imbalance Target of Dr. Erickson’s New Clinical Trial

Theodore Coutilish Biomarkers • Cincinnati Children's Hospital • Clinical • Erickson, Craig • Research Updates October 25, 2017June 15, 2018Abilify, AstraZeneca, autism, AZD7325, EEG, GABA, glutamate

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

Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers

FRAXA Research Foundation 2016 Grants • 2017 Grants • Biomarkers • Current Research Grants • Lovelace, Jonny • Razak, Khaleel • Treatment Targets • University of California at Riverside October 3, 2017March 22, 2018EEG, hypersensitivity, mGluR5, minocycline, MMP9, sound

With a $90,000 grant from FRAXA Research Foundation awarded over 2016-2017, University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, are exploring drug combinations to limit hypersensitivity to sounds in Fragile X mice.

Fragile X Syndrome Drug Validation Initiative (FRAXA-DVI)

FRAXA Research Foundation 2011 Grants • 2012 Grants • 2013 Grants • 2014 Grants • 2015 Grants • 2016 Grants • 2017 Grants • 2018 Grants • Biomarkers • Carullo, Paulina • Cogram, Patricia • Current Research Grants • Drug Repurposing • FLENI Foundation • Resources • University of Chile October 1, 2017August 22, 2018Alzheimer's, EEG, FRAXA-DVI, seizure

The FRAXA Drug Validation Initiative (FRAXA-DVI) provides speedy, cost-effective, objective preclinical testing of potential new Fragile X treatments. FRAXA has funded FRAXA-DVI for $50,000 or more per year since 2012.

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

J. Dora Levin Biomarkers • Boston Children's Hospital • Clinical • Harvard University • Nelson, Charles A. • Research Updates • Wilkinson, Carol August 17, 2017July 30, 2018Autifony Therapeutics, autism, EEG, hypersensitivity, ion channel, Pierce Family Fragile X Foundation, sleep, sound

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.

Preclinical Testing of Sleep-Wake Patterns as an Outcome Measure for Fragile X

Theodore Coutilish 2016 Grants • 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Treatment Targets • University of Wisconsin • Westmark, Cara May 23, 2017August 29, 2018Alzheimer's, amyloid precursor protein, autism, EEG, seizure, sleep, sound

FRAXA Research Foundation awarded $122,000 over 2016-2018 to Dr. Cara Westmark at the University of Wisconsin at Madison for studies of sleep disorders in Fragile X syndrome.

Kimberly Huber, PhD, Explores Hyperexcitability in Fragile X Syndrome

Theodore Coutilish Huber, Kimberly • Research Updates • University of Texas at Southwestern September 6, 2016June 14, 2018autism, EEG, hyperexcitability, hypersensitivity, mGluR5, sound

Sensory Overload 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. Her current focus is the study of synapses and brain circuits in the mouse that mediate sensory perception, including perception of touch and sound. She aims to understand the cellular and molecular mechanisms by which loss of FMRP causes hyperexcitable sensory circuits. The goal: to develop targeted therapeutics that can restore normal brain function and reduce sensory hypersensitivity. “Sensory brain circuits are overactive, or hyperexcitable,Read more