Developmental Profile of Glutamatergic Synapses in Fragile X

FRAXA Research Foundation has awarded a $90,000 research fellowship to Dr. Tue Banke. With this award, Dr. Banke is investigating how glutamate receptors at neuronal synapses – essential building blocks of learning and memory – are impacted in Fragile X syndrome. Dr. Banke recently left Aarhus University in Denmark to continue his research first as a visiting scholar and now as an assistant professor at the University of Washington.

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Ray Turner, PhD and Xiaoqin Zhan, PhD

Reintroducing FMRP via Tat to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation and the Fragile X Research Foundation of Canada 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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Stephanie Barnes, PhD

Enhancing NMDA Receptor Signaling to Treat Fragile X Syndrome

Dr. Stephanie Barnes has been investigating the role of NMDA receptors as a FRAXA Postdoctoral Fellow in Dr. Emily Osterweil’s laboratory at the University of Edinburgh from 2016-2018. With an additional year grant from FRAXA, she is now continuing her work to identify novel targets and test pharmacological therapies in the Fragile X mouse model at the Picower Institute at MIT with Dr. Mark Bear.

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FRAXA Biotech Games, the Beginning of Something Great

On September 20, 2018, FRAXA Research Foundation held the First Annual FRAXA Biotech Games™. The event was a “friendly” competition between greater Boston biotech companies and affiliated industry partners and vendors in a series of fun backyard lawn games. 42 teams of 4 players each played cornhole, KanJam, ladder golf and bucketball. Our goal was to establish an annual event in Cambridge, MA, that would unite the biotech community for an afternoon of fun competition, and raise money for biomedical research. We look forward to the upcoming Biotech Games!

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One Person Can Make a Difference

When Ellen Skala, also referred to as Elle, contacted us in August 2018 about creating a personal fundraising campaign for FRAXA, we were excited about her interest in supporting our mission. Elle set a goal to raise $10,000 for Fragile X research by her birthday, and she committed to shaving her head if she met her fundraising goal!

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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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Tetra Announces $40M to Advance BPN14770 for FXS and Alzheimer’s Disease

Tetra Discovery Partners has signed a multi-part deal that could bring it up to $160 million, plus royalties, from Shionogi & Co, Ltd, a Japanese major research-driven pharmaceutical company. Tetra currently is conducting an investigational Phase 2 study of BPN14770 in adults with Fragile X Syndrome, an indication for which BPN14770 has received Orphan Drug Designation from the US Food and Drug Administration. This clinical trial was made possible by early work with the FRAXA-DVI and over $200,000 from FRAXA.

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Meet Charlie!

Meet #FriendofFRAXA Charlie! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

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2018 Hope for the Holidays

Hope for the Holidays Gala Helps Advance Fragile X Research

On December 8, 2018, a sold-out crowd of 250 people gathered for the 3rd Annual Hope for the Holidays Gala at the Café Escadrille in Burlington, MA, to raise funds for Fragile X research. For the third year in a row, the Pierces presented a check for $100,000 to FRAXA Research Foundation. We are truly grateful for this ongoing, generous support of our mission to find effective treatments and ultimately a cure for Fragile X.

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Boys Basketball Fundraiser Kicks Off The Season of Giving

On Saturday morning, November 17, 60 boys, their parents and a bunch of volunteers gathered in Newton, MA for the 3rd annual 3 on 3 basketball tournament, sponsored by the Newton Athletic Association (NAA), a program of Newton Community Education. The event is a fun competition of teams of three players competing for bragging rights of which team is king of the local youth basketball program.

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Emily #FriendofFRAXA

Meet Emily!

Meet #FriendofFRAXA Emily! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

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Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

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. 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.

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Research Points to Drugs which Inhibit PDE to Treat Fragile X

FRAXA Research Foundation funded a grant of $90,000 over 2016-2018, for a postdoctoral fellowship for Thomas Maurin, PhD, working under the mentorship of Dr. Barbara Bardoni at INSERM in France. The team works on the biochemistry of the Fragile X protein. They have found that PDE inhibitors (a class of drugs) show promise as treatments for Fragile X syndrome. In related research, FRAXA is currently funding a clinical trial of PDE4D inhibitors.

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David and Cecil Rosenthal Fragile X Brothers killed at Pittsburgh synagogue massacre

Fragile X Brothers Two of the Pittsburgh Synagogue Massacre Victims

Our hearts are broken for everyone affected by the horrible tragedy at the Tree of Life synagogue in Pittsburgh. This one hits very close to home as two of the victims, the Rosenthal brothers, Cecil and David had Fragile X syndrome.

“Cecil’s laugh was infectious,” said Chris Schopf, Achieva’s vice president of residential supports. He added, “David was so kind and had such a gentle spirit. Together, they looked out for one another. They were inseparable. Most of all, they were kind, good people with a strong faith and respect for everyone around.”

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