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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Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X

Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X

CONNECT-FX (Clinical Study of Cannabidiol (CBD) in Children and Adolescents with Fragile X) is a newly initiated multi-national, randomized, double-blind, placebo-controlled, 14-week trial, sponsored by Zynerba Pharmaceuticals. It is now enrolling patients ages 3 through 17 years with full mutation Fragile X syndrome, to evaluate the efficacy and safety of an investigational CBD gel (ZYN002).

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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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Boston Bruins Foundation to Hold 50/50 Jackpot Raffle to Benefit FRAXA

Boston Bruins Foundation to Hold 50/50 Jackpot Raffle to Benefit FRAXA

The Boston Bruins of the National Hockey League (NHL) are once again supporting Fragile X research! The team’s charity, the Boston Bruins Foundation, is having a special jackpot giveaway to support FRAXA Research Foundation. And this year they are selling raffle tickets online! The Boston Bruins Foundation’s 50/50 raffle is now live with half the proceeds going to a lucky winner and the other half going to help find effective treatments and ultimately a cure for Fragile X.

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Lucas Turned 21, Yet Not Much has Changed – Clark Family Campaign

Lucas Turned 21, Yet Not Much has Changed – Clark Family Campaign

Lucas turned 21 this year, a fun milestone for most young adults, but not as eventful for someone with Fragile X syndrome. Lucas still prefers isolation in his room, fast-forwarding and rewinding to his favorite spots in his DVD collection, doing the same for YouTube videos on the internet, and his favorite internet pastime: shopping for die-cast toy cars and trucks.

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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 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.

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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 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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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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Fragile X Clinical Trial on Novartis’s AFQ056 Opens Enrollment

Fragile X Clinical Trial on Novartis’s AFQ056 Opens Enrollment

Elizabeth M. Berry-Kravis, MD, PhD has informed us that Rush University Medical Center in Chicago is enrolling the first patient in the NeuroNext learning trial for children ages 3-6 this week. This is the start of a large-scale Fragile X clinical trial of Novartis AFQ056 (an mGluR5 antagonist) with children.

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Kathan Pierce Named Patriots Difference Maker of the Week!

Kathan Pierce Named Patriots Difference Maker of the Week!

FRAXA Board Member and co-founder of The Pierce Family Fragile X Foundation, Kathan Pierce, has been named this week’s 2018 Patriots Difference Make of the Week! This honor is given by the NFL’s New England Patriots Foundation. According to Chairman and CEO Robert Kraft, “We enjoy shining the light on local volunteers that are committed to improving the lives of children and families across the region and we hope that this inspires our fans to get more involved in their communities.”

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A Great Day in Boston Sports

A Great Day in Boston Sports

Thursday, September 20, 2018 was a great day in Boston Sports. The Boston Red Sox clinched their third American League East title, but before the first pitch was thrown, nearly 40 teams stepped onto the field at Massachusetts Institute of Technology (MIT) to compete in the first ever FRAXA Biotech Games! The teams were comprised of biotech companies, their vendors and partners. Even the Bear Lab at the Picower Institute at MIT fielded two teams.

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Non-Invasive Imaging as a Biomarker for Future Fragile X Clinical Trials

Non-Invasive Imaging as a Biomarker for Future Fragile X Clinical Trials

FRAXA Research Foundation has renewed Kamilla Castro’s 2017 FRAXA Fellowship for a second year. With this $90,000 award, Kamilla Castro and Principal Investigator Dr. Andreas Frick are using non-invasive magnetic resonance imaging (MRI) methodology to assess connectivity changes in the brain in Fragile X. If this project is successful, we will have objective outcome measures to evaluate new treatments, both in mice bred to mimic Fragile X and in human patients.

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Niagara Falls went Teal for Fragile X Awareness

Niagara Falls went Teal for Fragile X Awareness

On Sunday, July 22 at 10:00 pm, Niagara Falls was lit up teal to honor National Fragile X Awareness Day! We are extremely grateful to the Niagara Falls Illumination Board for making this happen. The teal lighting created a spectacular experience for all the spectators on both sides of the falls.

FRAXA co-founders Katie Clapp and Michael Tranfaglia made the drive from Massachusetts, and our web developer, Eric Welin, trekked to the falls with his entire family. Our afternoon meet up at Goat Island included Fragile X families from Canada, Illinois, Kentucky, New York and South Africa! Several happy Fragile X self-advocates could be seen running around with their siblings, while everyone enjoyed the Fragile X family reunion. It was great to see all of the different Fragile X shirts our friends wore.

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Retinoic Acid Signaling Blocked by Fragile X Mutation

Retinoic Acid Signaling Blocked by Fragile X Mutation

A 2013-2014 FRAXA Research Grant, Synaptic Characterization of Human Fragile X Neurons, has shown that the Fragile X mutation impairs homeostatic plasticity in human neurons, by blocking synaptic retinoic acid signaling.

Principal Investigator Marius Wernig, PhD and FRAXA Postdoctoral Fellow Samuele Marro, PhD at Stanford University used stem cells from human adults, instead of mouse cells, for this study. They found promising results with retinoic acid which is a metabolite of Vitamin A. The system they have developed could provide a powerful new cellular biomarker for screening many treatment approaches.

Dr. Marro provided us with the following summary of the published results.

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Elle’s Head Shaving for Fragile X!

Elle’s Head Shaving for Fragile X!

This fundraiser is unique to me because I am doing something HUGE if I meet my goal of $10,000 by my birthday. I will be shaving my head, completely bald, if I meet my goal. For those of you who know me, my hair is a huge part of my identity. It has always been a part of who I am and has helped distinguish me from other people. Seriously, my grandmother could find me in a crowd because of my hair. Just like my hair is a part of my identity, Fragile X is a part of Ryan’s. I want to honor the person that he is through this fundraiser – the person I hope you all get to meet someday.

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Fragile X Research Impacted by a Small Group of Thoughtful, Committed Citizens

Fragile X Research Impacted by a Small Group of Thoughtful, Committed Citizens

Theirs was an effort by a small group of thoughtful, committed members of the Fragile X Association of Michigan (FXAM) to be sure. The entire project took months! But it was hard work well worth the effort. After writing and revising (and revising), FXAM was awarded a $35,000 grant which the Michigan Fragile X group will now direct to Dr. Todd’s ongoing Fragile X research involving CRISPR!

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Activity-Dependent Translational Profiling in Fragile X Neurons

Activity-Dependent Translational Profiling in Fragile X Neurons

FRAXA’s first-ever grant to researchers at the University of California at Berkeley goes to Dr. Nicholas Ingolia and Dr. J. Wren Kim to analyze the proteomics of Fragile X neurons using a newly developed tool which can distinguish the profiles of neurons that are actively responding to signals.

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