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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Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

Screening 2,320 FDA-Approved Drugs for Potential Treatment of Fragile X

FRAXA Research Foundation has awarded a $90,000 grant to Principal Investigator Dr. Sean McBride and Postdoctoral Fellow Dr. Karen Joyce, at Rowan University, to screen all 2,320 FDA-approved drugs on both mouse and fly models of Fragile X syndrome. Those drugs which show promise will be tested in more detail for potential to treat Fragile X in humans.

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Kathan Pierce Honored as a New England Patriots Difference Maker

Kathan Pierce Honored as a New England Patriots Difference Maker

FRAXA is proud to announce that one of our board members, Kathan Pierce, was recognized by the NFL’s New England Patriots and team owner Robert Kraft for her tireless volunteerism. We are grateful for Kathan’s contributions to FRAXA, and to the Patriots, who announced they are also awarding a $5,000 grant to FRAXA to support Fragile X research.

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

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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Hope for the Holidays Gala Helps Advance Fragile X Research

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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Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Coffee, Tea, and Chocolate: Adenosine Receptors in Fragile X

Caffeine is the most popular smart drug in the world. With a $90,000 grant from FRAXA Research Foundation, Alberto Martire, PhD and Antonella Borreca, PhD in Rome, Italy are investigating adenosine receptors antagonists to treat Fragile X syndrome. Compounds which are able to block adenosine receptors are commonly found in tea, chocolate, and coffee.

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Boys Basketball Fundraiser Kicks Off The Season of Giving

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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Meet Emily!

Meet Emily!

Meet #FriendofFRAXA Emily! If you would like to nominate someone as a #FriendofFRAXA, simply email a photo accompanied with age, location, and a few of his or hers interests and challenges to brianne@fraxa.org. We welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike.

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Finding Fragile X Biomarkers – From Transcriptomics to Behavior in Patients

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

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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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 Brothers Two of the Pittsburgh Synagogue Massacre Victims

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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Brett Soars To Eagle

Brett Soars To Eagle

Over the years, Brett saw a lot of the older boys becoming Eagle Scouts and decided he wanted to get his Eagle Rank, too. Carl explained the process and Brett said, “Let’s do it”. Everything wasn’t smooth sailing and Brett encountered some obstacles. After Brett decided that he wanted to continue in scouting and get his Eagle Rank, the highest rank the Boy Scouts can achieve, we realized that there were some required merit badges that Brett would never be able to get because some of the requirements were just too difficult for him. The cool thing was that Boy Scouts offered an alternative path for special needs scouts.

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14th Annual Fragile X Poker Run Raises $12,135 for Fragile X Research!

14th Annual Fragile X Poker Run Raises $12,135 for Fragile X Research!

The 14th Annual Fragile X Poker Run was a resounding success. The previous fundraising record of $7,800 was eclipsed by >50%, coming in at $12,135!! This year a very special and moving moment occurred when Amber, who has cerebral palsy, was brought by her parents and positioned in front of the band. She was then serenaded by Mikey through many songs, culminating in Happy Birthday (her 20th). Not a dry eye in the crowd, including Amber and Mikey. Simply magical.

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