20 Landmarks Will Light Up for Fragile X Awareness Day

20 Landmarks Will Light Up for Fragile X Awareness Day

Newburyport, MA (July 15, 2019) — Today, FRAXA Research Foundation announces that 20 buildings, bridges and landmarks across the United States and Canada will be illuminated teal on Monday, July 22, to celebrate International Fragile X Awareness Day. The goal of the initiative is to raise awareness of Fragile X syndrome, the most common inherited cause of autism and learning disabilities worldwide.

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Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

Recruiting: Clinical Study of Non-Invasive EEG for Children Ages 2-7

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at Boston Children’s Hospital are recruiting children ages 2-7 years with Fragile X syndrome to join a study of brain differences using non-invasive EEG.

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Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation and the Fragile X Research Foundation of Canada have awarded a grant of $100,000 over two years to Dr. Raymond Turner at the University of Calgary in Alberta, Canada. Dr. Turner and postdoctoral fellow Xiaoqin Zhan, PhD are attempting to reactivate a segment of FMRP to reverse symptoms of Fragile X in a mouse model of the disease to reduce abnormal behaviors.

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FXS Patients’ Social Deficits are Linked to Social Anxiety, Eye-tracking Study Says

FXS Patients’ Social Deficits are Linked to Social Anxiety, Eye-tracking Study Says

Dr. Craig Erickson and colleagues at the University of Cincinnati used eye-tracking technology to understand sociability in Fragile X syndrome. This study affirms what so many parents, caretakers, and educators suspect: people with fragile X want to be social, and it is anxiety – not lack of interest – which usually hold them back. If anxiety could be reduced, more sociability would likely follow. Dr. Erickson is a Fragile X expert and FRAXA investigator who is currently conducting a Fragile X clinical trial of an investigational new drug.

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Novel Modulators of Potassium Channels to Treat Fragile X

Novel Modulators of Potassium Channels to Treat Fragile X

With funding from FRAXA over 2015-2017, the Yale University team of Leonard Kaczmarek, PhD showed that the firing patterns of auditory neurons in response to repeated stimulation is severely abnormal in Fragile X mice. Based on these results, they are collaborating with the UK-based company Autifony to develop advanced compounds which may reverse these deficits.

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Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

This 2017-2018 grant of $90,000 is funded jointly by FRAXA and the Fragile X Research Foundation of Canada for the first year. A previous FRAXA grant to the Sonenberg lab has led to great interest in the available drug, metformin, as a potential treatment for Fragile X syndrome. FRAXA is currently organizing clinical trials of metformin.

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Fragile X Farm Life is Taylor’s World – Stevenson Family Campaign

Fragile X Farm Life is Taylor’s World – Stevenson Family Campaign

Our world was turned upside down when Taylor was diagnosed at age 2 with Fragile X syndrome. We are thrilled that Taylor is busy, safe, happy and well cared for, living the simple farm life, though 22 years ago this was not the path we had envisioned for him. As a true apple lover, we’ve heard Taylor will pick an apple and give it a kiss before placing it in a basket. He’s also known as “the best chicken man there” as he is one of the few residents not afraid to go boldly into the coop and take the eggs from the chickens.

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HEADs UP Act Could Increase Access to Health Care

HEADs UP Act Could Increase Access to Health Care

I was recently contacted by my U.S. Congressman, Seth Moulton (Massachusetts 6th District) with a request to support a new bill he’s introduced with Gregg Harper (Mississippi 3rd District).

The Healthcare Extension and Accessibility for Developmentally Disabled and Underserved Population Act, or the HEADs UP Act of 2018 was introduced on the 50th anniversary of the signing of the ADA. This legislation would designate people with Intellectual and Developmental Disabilities (I/DD) as a Medically Underserved Population (MUP).

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Ringing the Bell at the New York Stock Exchange for Fragile X Awareness

Ringing the Bell at the New York Stock Exchange for Fragile X Awareness

FRAXA Research Foundation was honored to be part of the opening bell ringing ceremony at the New York Stock Exchange (NYSE) on July 5, 2018. We were there to raise awareness for Fragile X along side the National Fragile X Foundation. FRAXA President Katie Clapp and Director of Community Relations Dave Bjork attended with over 30 Fragile X family members and friends, including 4 self-advocates. This was a great opportunity to raise awareness of Fragile X on a big stage at an iconic place. The event was also carried live on television on CNBC, giving FRAXA and Fragile X broad reach around the world.

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Tetra Discovery Partners Initiates Phase 2 Trial of BPN14770 in Fragile X Syndrome

Tetra Discovery Partners Initiates Phase 2 Trial of BPN14770 in Fragile X Syndrome

This 2-Period Crossover Study of BPN14770 is accepting adults males with Fragile X syndrome at Rush University Medical Center in Chicago. Principal Investigator of the study is Elizabeth Berry-Kravis, MD, PhD.
A selective inhibitor of the phosphodiesterase type-4D (PDE4D), BPN14770 has shown the ability to improve the quality of connections between neurons and to improve multiple behavioral outcomes in the Fragile X mouse model.

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Aripiprazole as a Treatment for Fragile X Syndrome

Aripiprazole as a Treatment for Fragile X Syndrome

Many medications are used to help people with Fragile X cope. But few clinical trials have been done on these drugs. Years ago FRAXA funded Dr. Craig Erickson to run a trial of aripiprazole (aka Abilify). FRAXA guest writer Hannah Miles recently caught up with Dr. Erickson to learn the results of the trial.

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Auditory Dysfunction in Fragile X Syndrome, Role for the Sound Localization Pathway

Auditory Dysfunction in Fragile X Syndrome, Role for the Sound Localization Pathway

FRAXA Research Foundation has renewed Dr. Elizabeth McCullagh’s 2017 FRAXA Fellowship for a second year. Dr. McCullagh and Principal Investigator Dr. Achem Klug are investigating the “cocktail party effect” in Fragile X mice. There is a specific circuit which allows us to discriminate between competing sound sources, helping us focus on a sound source of interest such as with a conversation partner. If clear differences are found in this circuit, they could be used as potential biomarkers for Fragile X clinical trials.

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Drug Repurposing Study Results Accelerate Progress Towards Fragile X Treatments

Drug Repurposing Study Results Accelerate Progress Towards Fragile X Treatments

While there are over 8,000 rare diseases affecting an estimated 350 million people worldwide, only around 200 of these conditions have effective treatments. Due to the high cost of developing new drugs, rare diseases have historically been less attractive to pharmaceutical companies. Drug repurposing systematically leverages the detailed information available on approved drugs and reduces the time and money needed to deliver safe “new” treatments, but with greater success rates and a potentially more immediate impact on health care.

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

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

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.

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

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

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

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Fragile X in the Forefront of International Conference

Fragile X in the Forefront of International Conference

Today the 18th International Fragile X and Related Neurodevelopmental Disorders Workshop kicks off in Quebec, Canada. For the next six days, scientists from around the world will gather at this workshop to focus on recent breakthroughs in our understanding of Fragile X, autism spectrum disorders (ASD), and related neurodevelopmental disorders. This biennial meeting has been instrumental to the discovery of many disease-causing genes and the development of therapeutic strategies for these disorders.

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MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

Almost all brain research focuses on neurons – nerve cells. However, the brain has many more glial cells which support, nourish, and protect the neurons. FRAXA Research Foundation awarded a 2017 grant $90,000 to support Dr. Yang’s studies of how changes in glial cells contribute to Fragile X syndrome. This grant is funded by a grant from the Pierce Family Fragile X Foundation.

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Quantitative Assessment of the Serotonin System in a Mouse Model of Fragile X Syndrome

Quantitative Assessment of the Serotonin System in a Mouse Model of Fragile X Syndrome

FRAXA Research Foundation awarded a grant of $90,000 over two years to Clinton Canal, PhD.  Dr. Canal, previously a research assistant professor at Northeastern University, has just launched his own lab at Mercer University in Atlanta, GA, to focus on Fragile X research.

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$75,000 Raised for Fragile X Research by Friends of FRAXA at our Fall Fling

$75,000 Raised for Fragile X Research by Friends of FRAXA at our Fall Fling

On Thursday, September 7 over 150 friends of FRAXA joined us at the Smith Barn at the Peabody Historical Society for the second annual FRAXA Fall Fling. Together we raised over $75,000 for Fragile X research — including a hand-delivered check for $25,000! Families from as far away as Miami, Florida joined us, even with hurricane Irma approaching their home state. Unfortunately, Irma ambushed Weather Channel Storm Tracker and Fragile X parent, Jim Cantore.

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Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

With a $45,000 grant from FRAXA Research Foundation in 2009, Dr. Mark Bear and Dr. Asha Bhakar used High Content Screening (HCS) to develop an assay sensitive to the effect of the FXS genotype. This project was funded in full by NIH after the first year.

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