News & Updates • Fragile X Research - FRAXA Research Foundation

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

FRAXA Research Foundation Events November 14, 2018November 14, 2018Boston Bruins Foundation

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.

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.

Research Points to Drugs which Inhibit PDE to Treat Fragile X

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Bardoni, Barbara • Current Research Grants • Disease Mechanisms • INSERM Valbonne, France • Maurin, Thomas • Treatment Targets November 4, 2018November 14, 2018mRNAs, PDE4, Tetra Discovery Partners

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.

Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model

FRAXA Research Foundation 2017 Grants • 2018 Grants • Current Research Grants • Disease Mechanisms • Gantois, Ilse • McGill University • Sonenberg, Nahum • Treatment Targets November 2, 2018November 20, 2018Alzheimer's, autism, cancer, Fragile X Research Foundation of Canada, metformin

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.

Fragile X Brothers Two of the Pittsburgh Synagogue Massacre Victims

FRAXA Research Foundation Community October 30, 2018October 31, 2018

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.”

Fragile X Clinical Trial on Novartis’s AFQ056 Opens Enrollment

FRAXA Research Foundation Berry-Kravis, Elizabeth • Clinical • Recruiting • Rush University Medical Center October 30, 2018November 20, 2018AFQ056, mGluR5, Novartis

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.

Meet Andy!

FRAXA Research Foundation Friend of FRAXA October 15, 2018October 16, 2018

Meet #FriendofFRAXA Andy! 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.

Brett Soars To Eagle

Edye Kaplan-Schwarz Community October 4, 2018

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. We worked with both our troop leaders and local council and got the Alternative Path approved.

Kathan Pierce Named Patriots Difference Maker of the Week!

FRAXA Research Foundation FRAXA Updates September 28, 2018September 28, 2018Pierce Family Fragile X Foundation

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.”

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

Jimmy Charlton Events Recap September 28, 2018

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.

Spectrum News – Newly Discovered Aspects of Fragile X Spur Next Wave of Drugs

FRAXA Research Foundation Bassell, Gary • Bear, Mark • FRAXA Updates • Osterweil, Emily • Research Updates • Zhao, Xinyu September 27, 2018October 19, 2018lovastatin, mGluR, mTOR

Many drugs for fragile X syndrome have failed in large clinical trials, but candidates that target new aspects of the condition may fare better.

A Great Day in Boston Sports

FRAXA Research Foundation Events Recap September 21, 2018October 4, 2018

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.

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Disease Mechanisms • Frick, Andreas • Grokoski, Kamila Castro • Neurocentre Magendie, France • Research Updates September 6, 2018October 19, 2018MRI

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.

$16,560 Raised for Fragile X Research at Callum Cup III

Andrew Murphy Events Recap September 5, 2018September 5, 2018

July was a great month for soccer. First, France won the World Cup, then 7 days later Millburn Football Club hosted the 3rd annual Callum Cup. Proceeds from the match were for raising funds for Fragile X research. This intra-club charity match has become the grande finale of the Millburn FC calendar, played in honor of Callum Murphy, the son of club goalkeeper, Andrew Murphy.

HEADs UP Act Could Increase Access to Health Care

Dave Bjork Advocacy August 24, 2018autism, Pierce Family Fragile X Foundation

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).

Mega Green Tea Extract to Treat Fragile X?

Hannah Maria Miles de la Torre, Rafael • Dierssen, Mara • Research Updates August 22, 2018Alzheimer's, estrogen

Green tea is thought to have many benefits, particularly in cognitive function. In 2012-14, FRAXA Research Foundation funded a clinical trial to assess the effects of EGCG (green tea extract) on cognitive function in adults with FXS. Drs. Rafael de la Torre and Mara Dierssen Sotos, principal researchers in Barcelona, Spain, reported many positive results. After the extract was no longer administered, effects remained stable. Memory, attention, and mental flexibility improvements were still observable at least 3 months after treatment ended.

How Promising is CRISPR for Fragile X?

Dave Bjork Research Updates • Todd, Peter August 14, 2018August 15, 2018CRISPR, FXTAS, mGluR, PSD-95

Dave Bjork, Director of Community Relations, recently sat down with Peter Todd, MD, PhD, Assistant Professor in the Department of Neurology in the University of Michigan Medical School. Dr. Todd was recently awarded a FRAXA Research Grant for gene reactivation with the use of CRISPR. In this interview he tells us about CRISPR in Fragile X research, how realistic is it that it could turn the Fragile X gene back on, and if it can really be a cure for Fragile X.

Niagara Falls went Teal for Fragile X Awareness

FRAXA Research Foundation Community • Events Recap August 13, 2018August 13, 2018

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.

Retinoic Acid Signaling Blocked by Fragile X Mutation

FRAXA Research Foundation FRAXA Updates • Research Grant with Results • Research Updates August 10, 2018October 19, 2018CRISPR, Retinoic Acid Signaling

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.

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

FRAXA Research Foundation Community • Todd, Peter August 7, 2018August 7, 2018CRISPR

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!

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

Dave Bjork Events Recap • FRAXA Updates July 16, 2018July 20, 2018autism

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.

Activity-Dependent Translational Profiling in Fragile X Neurons

FRAXA Research Foundation 2018 Grants • Current Research Grants • Disease Mechanisms • Ingolia, Nicholas • Kim, J. Wren • University of California at Berkeley July 12, 2018July 12, 2018

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.

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

FRAXA Research Foundation Berry-Kravis, Elizabeth • Rush University Medical Center July 10, 2018November 20, 2018Alzheimer's, autism, BPN14770, FDA, PDE4, sleep, Tetra Discovery Partners

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.

Aripiprazole as a Treatment for Fragile X Syndrome

Hannah Maria Miles Clinical Trials • Erickson, Craig • Research Grant with Results • Research Updates June 28, 2018June 29, 2018Abilify, aripiprazole, autism

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.

Study Examines Behavioral Traits of Fragile X Patients Without Autism

Fragile X News Today Research Updates June 21, 2018June 20, 2018autism

Patients with Fragile X syndrome who don’t meet the cut-off for a diagnosis of autism show a decrease in impulsivity and repetitive questioning over time, when compared with patients who do, a new study shows.

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