Volunteer for FRAXA at the Boston Bruins Game

Boston Bruins raffle benefiting FRAXA

Join us on Friday, November 24 to help raise funds for fragile X research by volunteering when the Boston Bruins host the Pittsburgh Penguins. At each home game, the Boston Bruins Foundation hosts a 50/50 raffle with half the proceeds going to a lucky winner and the other half going to a worthy charity. FRAXA Research Foundation is incredibly fortunate to be the featured charity on Friday, November 24, at 1 pm, when the Bruins play the Pittsburgh Penguins at Boston’s TD Garden.

This is the third year in a row that the Bruins Foundation has chosen to host a raffle to benefit FRAXA. Last year, we were featured at the first home game of the season, against the New Jersey Devils. The year before that, on Saturday, November 21, 2015, the Bruins played the Toronto Maple Leafs at Boston’s TD Garden and FRAXA volunteers (more than 50!) raised more than any other raffle that year… over $25,000!

Would you like to join us this year to sell raffle tickets at the game?

We sell for two periods, then watch the third period from the club level.

Only 50 volunteers can be accommodated, so sign up fast!

Sign up

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

FRAXA Fall Fling Table Centerpieces

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. Even though he wasn’t there in person, Jim sent the Weather Channel jacket he wore while covering hurricane Harvey. It was a wildly popular auction item!

Fall Fling Fragile X Research Fundraiser
Janet Wu at the FRAXA Fall Fling

After cocktails and some rousing music by the Prescott Street Jazz Band, our Master or Ceremonies, TV personality and multimedia journalist Janet Wu, kicked off the evening.

The keynote speaker was FRAXA grantee and Harvard professor, Jeannie Lee, MD, PhD, who gave an update on her efforts to develop treatments that reactivate the fragile X gene. She noted that there are patients in Europe who have unusual fragile X mutations and produce about 15% of normal levels of the fragile X protein, FMRP. These individuals function within the normal range, so many experts consider this level of 15% expression to be a kind of “magic number.” Over the past year of their FRAXA grant, Dr. Lee and colleagues have found some drugs that can restore expression to 20 or 30% of normal levels, at least in a lab dish.

Preston Hall, a young man with fragile X syndrome, was proud to present the FRAXA Champion Award to his friend Bob Sweeney, Executive Director of the Boston Bruins Foundation. The Bruins Foundation has been a longtime supporter of FRAXA Research Foundation.

On Friday, November 24, when the Bruins play the Pittsburgh Penguins in Boston, FRAXA will be the featured charity recipient of a 50/50 raffle. Volunteers are needed so please email Dave Bjork at dbjork@fraxa.org if you’d like to join us!

We thank the many friends of FRAXA for making this event a big success, especially the families Vega, Eddy, Truscott, Ford, Zorovic, Casey, Mazzola, Vershbow, Welch, Wolfson, Pierce, and Hollin. We are immensely grateful to our corporate sponsors: Fulcrum Therapeutics, Ovid Therapeutics, Q-State Biosciences, Shire Pharmaceuticals, Boston Children’s Hospital and SPARK for Autism. As we’ve noted before, Fulcrum, Ovid, and Q-State are all working to develop new treatments for fragile X.

Thank you to everyone who supported this effort: you’ve helped to raise another $75,000 for fragile X research!

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. With funding from the National Institutes of Health through the NeuroNext network, Dr. Berry-Kravis and colleagues aim to show effects of a targeted treatment — the mGluR5 blocker for fragile X that normalizes brain plasticity in fragile X mice but failed in previous adult human trials — can be better evaluated by studying effects on learning in young children.

Dr. Berry-Kravis aims to change the way drugs are developed for fragile X and developmental disabilities in general. This clinical trial will use an innovative, exploratory new design to develop a different way to test treatments: its focus will be on learning and language. If it is successful, this trial can serve as a model for future trials of targeted treatments operating on neural plasticity in fragile X and other neurodevelopmental disorders.

Elizabeth Berry-Kravis, MD, PhD, fragile X researcher

Details about the clinical trial can be found on ClinicalTrials.gov. In October of 2016 Theodore Coutilish wrote about Elizabeth M. Berry-Kravis and the introduction to this trail.

Learn More about AFQ056 for Language Learning in Children With FXS

If all goes well with with this trial, the entire fragile X field will have new tools for future trials of promising new drug treatments.

To find out about enrollment, please contact Katherine J Friedmann, RN at (312) 942-9841 or katherine_j_friedmann@rush.edu

For those who are curious, NeuroNext is an NINDS initiative that has an large amount of money and funds exploratory trials in neurological conditions. They awarded a whopping $11.5 million for this trial!

Read the NeuroNext Grant Announcement

Fragile X Research Grants 2017 Recipients

FRAXA Research Foundation is excited to announce our 2017 Research Grants aimed at finding specific treatments and ultimately a cure for fragile X syndrome. Several of these projects are funded with generous support from our partner organizations: Autism Science Foundation, The Pierce Family Fragile X Foundation, and the Fragile X Research Foundation of Canada.

Over the coming weeks FRAXA will award additional Fragile X Research Grants. We will add them to this page and share updates on Twitter, Facebook and Instagram, so be sure to follow us.

Autophagy is a Novel Therapeutic Target of Impaired Cognition in Fragile X Syndrome

$90,000 Grant
Jingqi Yan PhD, FRAXA Fellow,
and Suzanne Zukin, PhD, Principal Investigator
Albert Einstein College of Medicine
$90,000 Research Grant over 2 Years

Autophagy is a natural process of programmed degradation and recycling of components of cells. It’s the cells’ system of cleaning house. In fragile X syndrome, autophagy seems to be underactive.

Dr. Zukin and colleagues have previously studied a particular “master regulator” protein, the mammalian target of rapamycin complex 1 (mTORC1), and found that it is overactivated in the hippocampus of fragile X mice. Too much mTORC1 leads to too little of the cleanup system (‘autophagy’) and therefore too much of many other proteins.

The Zukin team will examine whether impaired autophagy causes impaired learning in fragile X mice. They will also investigate whether it can explain the differences seen in the structure of spine-like protrusions on dendrites (connections between neurons), which in fragile X mimic an immature morphology (shape). Then they will look for novel therapeutic strategies that target the autophagy pathway to rescue autophagy and learning in fragile X mice.

Correcting Fragile X-associated Deficits by Targeting Neonatal PKCepsilon Signaling in the Brain

$90,000 Grant
Alexandra Marsillo, Graduate Student
Probal Banerjee, PhD,
Principal Investigator
Tatyana Budylin,
FRAXA Fellow
College of Staten Island
$90,000 Research Grant over 2 Years

The Reason for this Study
Fragile X syndrome (FXS) occurs due the silencing of the X-linked gene Fmr1, and it is known that the protein product (FMRP) of the Fmr1 gene controls expression of other proteins. However, it is unclear how the deficiency of FMRP leads to impairments. So far no mechanistic pathway has been found to link FMRP to FXS.

Discovery of FXS-associated Defects at the Molecular Level
Dr. Banerjee’s team is addressing this information gap by studying PKCe, which is one among the many gene products that are regulated by FMRP. By studying fragile X knockout (KO) mice, which lack FMRP, they have observed that PKCe expression is significantly suppressed in a hormone-secreting center of the brain, the hypothalamus, and the cognitive hub, hippocampus, which regulates hypothalamic activity. They also observed suppression of the sociability hormone oxytocin in the hypothalamus. Simultaneously, increased cell-surface localization of an excitation-causing protein, AMPAR, in the hippocampal nerve cells presumably increased anxiety in the KO mice.

Therapeutic Strategy for Permanent Correction of FXS-associated Defects
The scientists have attempted to compensate for suppressed PKCe signaling by treating the KO mice at an early age with the selective PKCe stimulator DCPLA. Quite strikingly, this resulted in a therapeutic correction of oxytocin expression in the hypothalamus, normalization of cell-surface AMPAR localization in the hippocampus, and correction of later-life hyper-anxiety and autistic-like social behavior deficits in adulthood! Thus, for the first time, this project brings the promise of elucidating a pathway that is compromised in the KO mice and uses a therapeutic strategy to correct the signaling pathway shortly after birth. This strategy is likely to correct early neurodevelopment in the brain and thereby afford a global, permanent correction of neuroconnectivity and behavior in the FXS mice.

The impression that fragile X mouse studies do not translate to human therapy is often based on treatments that are offered beyond the point of critical development when the brain can best be nudged to form the right connections. Therefore, it is highly important to conduct preclinical studies such as this during early brain development. Such studies will have a greater likelihood of eventually translating into successful human clinical trials.

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

Elizabeth McCullagh, PhD University of Colorado at Denver
$90,000 Grant
Elizabeth McCullagh, PhD
FRAXA Fellow
University of Colorado at Denver
$90,000 Research Grant over 2 Years

This FRAXA research grant will allow Elizabeth McCullagh, PhD and Achim Klug, PhD to investigate whether neural circuits which process sound are altered in fragile X syndrome. 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. This is the aptly named “cocktail party effect”. The team will measure alterations in this circuit in fragile X syndrome. If clear differences are found, they could be used as potential biomarkers for FXS. 

Achim Klug, PhD

Achim Klug, PhD
Principal Investigator

Neural Markers of Cognitive, Language, and Behavioral Deficits in Children with Fragile X

2017 Fragile X Research Grant: Neural Markers of Cognitive, Language, and Behavioral Deficits in Children with Fragile X
$90,000 Grant
Charles A. Nelson, PhD
Principal Investigator
Boston Children’s Hospital
$90,000 Clinical Grant over 2 Years

With this grant, the team will identify and characterize brain-based markers that predict cognitive, language, and behavioral deficits in young children with fragile X syndrome. Using EEG, a low cost, non-invasive technique, they will measure brain activity in response to sensory stimuli, and correlate this with cognitive, language, and behavioral ratings. The brain-based markers can then be used in future fragile X clinical trials as objective measures for targeted outcomes.

Results from this study should facilitate development of targeted drug and behavioral based interventions. While other research groups have used EEG to study subjects with fragile X, this project will work with much younger children at an earlier stage of development.

carol wilkinson

Carol Wilkinson MD, PhD
Postdoctoral Fellow

MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X

2017 Fragile X Research Grant: MicroRNA Mediated Astroglial GLT1 Dysregulation in Fragile X
$90,000 Grant
Yongjie Yang, PhD
Principal Investigator
Tufts University
$90,000 Research Grant over 2 Years

Glutamate is the major excitatory neurotransmitter in the brain. Abnormal regulation of glutamate has been implicated in many neuropsychiatric disorders, including autism, schizophrenia, and fragile X syndrome. It is thought that glutamate levels outside of the nerve cells are elevated and causes nerves more “excited” and induces many symptoms in humans with fragile X and also in mice bred to mimic fragile X syndrome.

Much of glutamate metabolism depends on astrocytes, the versatile and abundant cells nestled between all the neurons of the brain. Extracellular glutamate (which floats around in between brain cells) is regulated by one of the most abundant proteins in the brain, the glutamate transporter GLT1, which is expressed mainly by astrocytes. Previous studies from the Yang lab at Tufts University School of Medicine have found that there is a decrease of this critical glutamate transporter GLT1 in fragile X mice.

This group has shown that removing the fragile X protein from astrocytes decreases the astrocytes’ ability to sweep up excess glutamate. They have recently identified a few small RNA molecules called microRNA that are involved in the regulation of GLT1. With the help of this research grant, they are now exploring how these microRNAs changes underlie decreased GLT1 expression. The Yang lab is also testing whether these microRNAs can restore astrocytes’ ability to reduce extracellular glutamate levels, thus hold the potential to become new therapies for fragile X syndrome.

Haruki Higashimori

Haruki Higashimori, PhD
Co-Principal Investigator

Yuqin Men

Yuqin Men, PhD
FRAXA Fellow

Aberrant Insulin Signaling in a Mouse Model of Fragile X

2017 Fragile X Research Grant: Aberrant Insulin Signaling in a Mouse Model of Fragile X
$90,000 Grant
Nahum Sonenberg, PhD
Principal Investigator
McGill University
$90,000 Research Grant over 2 Years
Year 1: $28,125 from FRAXA; $16,875 from FXRFC

Insulin signaling is known to be dysregulated in diabetes and cancer, and has lately been described to be implicated in cognitive dysfunctions in neurodegenerative disorders such as Alzheimer’s disease. Furthermore, dysregulation of insulin signaling might also be associated with autism. Funded by FXRFC and FRAXA research grants, this study will systematically investigate the impact of insulin signaling on autistic-like behaviors, synaptic plasticity, spine morphology and mRNA translation in the mouse model of fragile X syndrome.

Ilse Gantois

Ilse Gantois, PhD
FRAXA Fellow

FRAXA Wins Award for Drug Repurposing

An Alternative Path to Finding Treatments

Cures Within Reach, the leading global nonprofit focused on repurposing research as a fast track to saving patient lives, has awarded FRAXA Research Foundation the 2017 Golan Christie Taglia Patient Impact Philanthropy Award for efforts to find treatments for the rare disease fragile X syndrome.

Dr. Michael Tranfaglia, FRAXA’s co-founder, accepted the award at the 5th Annual Global Health Repurposing Awards in Chicago. He also spoke at the companion 6th Annual Drug Repositioning, Repurposing and Rescue Conference.

“This award will continue to raise awareness of the key role repurposing treatments can play in treating disorders like fragile X and other rare diseases,” noted Dr. Tranfaglia.

Cures Within Reach - Repurposing Treatments

Drug Repurposing is Faster, Cheaper, Less Risky than Developing New Medicines

There are over 7,000 rare diseases worldwide that do not have effective treatments. But each year only 10-15 new drug treatments are developed.

Advancements in technology mean that interactions between known drugs and unsolved diseases can be rapidly modeled, tested and shared around the world. This presents a huge opportunity to help patients. FRAXA invests millions of dollars in pursuing drug repurposing and is exploring the potential of available medicines for fragile X, including metformin, minocycline, lithium, and others. Read more about our initiative Repurposing Available Drugs to Treat Fragile X Syndrome.

 

CureWithinReach - why repurposing treatments for fragile X

Genes and Gems Fundraiser raises $40,000 for Fragile X Research

On April 8, our fabulous friends of FRAXA in Ohio put on another great show as they held their Genes and Gems fundraiser at the St. Charles Preparatory School in Columbus. It was a night to bring together over 300 families, friends and supporters of fragile X research. The event included an inspiring presentation by the well-loved local fragile X physician and researcher, Dr. Craig Erickson, from Cincinnati Children’s Hospital. From the great conversations, delicious food, and the silent and live auctions (including a ride on the Goodyear Blimp!), it was clear that everyone had a wonderful time.

Dr. Craig Erickson - Fragile X research
Genes and Gems for Fragile X Research

We want to thank all those who attended Genes and Gems and made generous donations to the FRAXA Research Foundation. A very special thanks to the Planning Committee for their tireless work and commitment to putting on this special event.

The Barden Family
The Heiman Family
The Frederick Family
The Lafferty Family
The Mack Family
The Maloney Family
The McCollister Family
The Meyers Family

The evening festivities raised $55,000, and after expenses of $15,000, this means $40,000 will go directly to research to find a cure for fragile X! In addition, Brett Livingston and Riley Maloney organized FRAN for FRAXA, a companion CrossFit event in Lewis Center, OH, on April 29, which boosted the total even more!

genes and gems for fragile X

TD Bank invites friends of FRAXA to watch the Bruins

Fifty friends of FRAXA enjoyed an amazing night at the TD Garden in Boston on March 30. They gathered to watch the Boston Bruins take on the Dallas Stars. It was a great opportunity for us to unite the greater Boston fragile X community. We were able to convene and thank some of our local families and introduce them to university and biotech scientists who are working to find a cure for fragile X.

The night was made available by a generous donation of the Garden View Room by TD Bank.

Friends of FRAXA, Bob Sweeney, President of the Boston Bruins Foundation

Many children with fragile X were able to join in, including Preston who enjoyed the special treat of riding the Zamboni around the ice after the second period!

Another happy participant was Eric, whose mom, Clare, wrote:

Seeing a game with my husband and son at the Garden was priceless. Eric was able to get up and walk around the box and so many SMILES were sent his way! I looked at other parents looking at him as he did some of his hand flaps and awkward body movements, and their soft smiles let me know we were in a safe place to enjoy a magical evening.

Although Eric didn’t interact with the other children with fragile X there, we made a point of showing him others who share his diagnosis. That’s powerful stuff!!

A big Thank You from us to TD Bank and the Bruins and especially player Frank Vatrano. Eric was too anxious to go up to greet him but Frank’s signed hockey stick is currently in his bed next to his pillow! We will cheer for him extra hard when we see him on the ice.

All of us at FRAXA are grateful to TD Bank and the Boston Bruins for making this a very special night. Thank you also to Bob Sweeney, President of the Boston Bruins Foundation, for stopping by and for your ongoing support.

Dave Bjork named Director of Development at FRAXA

FRAXA Director of Development Dave BjorkNewburyport, MA — FRAXA Research Foundation, the world’s only organization solely committed to finding a cure for fragile X syndrome, the leading known inherited cause of intellectual disabilities and autism, has named Dave Bjork to the newly created position of Director of Development.

Bjork, of Georgetown, Mass., has more than 17 years of progressive experience in nonprofit marketing and fundraising leadership roles including Vice President of Development, National Foundation for Cancer Research, Bethesda, MD. In this role, he launched several fundraising programs and became known as the “Cancer Research Evangelist” because of his dedication and commitment to basic scientific research. Bjork has made it his life mission to connect individuals, businesses, academic institutions and other key influencers to forge strong partnerships to focus on researchers being funded so they can deliver life changing advances. “Funding research directly and fully is the most powerful way to cure disease,” said Bjork.

“I am thrilled to welcome Dave to our organization,” said Katie Clapp, President/Cofounder, FRAXA. He brings incredible energy, experience and enthusiasm and his passion is palatable. He will lead our efforts to raise awareness and more funds to find a cure for fragile X.”

Bjork earned a BS in Economics and Finance from the Wharton School at the University of Pennsylvania.

You can reach Dave at dbjork@fraxa.org or (978) 462-1866.

Pierce Family raises $100,000 to Find a Cure for Fragile X

The 1st annual Hope for the Holidays gala hosted by The Pierce Family Fragile X Foundation on Saturday December 10th near Boston, MA, at the Woburn Country Club. Kathan and Michael Pierce started their foundation just 6 months ago. Thanks to the generosity of their families, friends, and the communities they work and live in, their foundation was able to donate $100,000 to FRAXA.

We are working together to find a cure for Fragile X!

Hosted by The Pierce Family Fragile X Foundation

Posted by Michael Pierce on Sunday, December 11, 2016

Watch Channel 5 video coverage here:

Boston Bruins Foundation raffle benefiting FRAXA raises over $9000 to find a cure for fragile X syndrome

Boston Bruins raffle benefiting FRAXA

Bruins raffle benefits FRAXA Research Foundation at 2016 opening home game

At each home game, the Boston Bruins Foundation hosts a 50/50 raffle with half the proceeds going to a lucky winner and the other half going to a worthy charity. The first home game of the 2016-17 season was on Thursday, October 20, at 7pm, against the New Jersey Devils.

35 volunteers for FRAXA sold $18,650 in tickets, which means they raised over $9000 to help find a cure for Fragile X syndrome.

Thanks to the Bruins Foundation and all our volunteers for a great night!

This was the second year that the Bruins hosted a raffle to benefit FRAXA. On Saturday, Nov 21, 2015, the Bruins played the Toronto Maple Leafs at Boston's TD Garden. FRAXA volunteers (more than 50!) raised more than any other raffle during the year ... over $25,000!

In addition, the Boston Bruins has contributed $90,000 to FRAXA to fully fund a research project for two years.  http://bruins.nhl.com/club/news.htm?id=769224

Teaming up with the Bruins
FRAXA Award to Bob Sweeney

Rolling Stone Magazine: Luke’s Best Chance: One Man’s Fight for His Autistic Son

Paul Solotaroff and son, Luke, who has fragile X

Rolling Stone Magazine published a powerful article by award-winning writer, Paul Solotaroff, featuring his son, Luke. Luke is 17 years old and has fragile X syndrome.

What will happen when Luke becomes an adult and no longer has a right to schooling?

During his research, Paul visited the Shared Living Collaborative in Merrimac, MA. This is the program where my son, Andy, age 28, works (and plays) during his days.  Perhaps it can serve as a model for other programs around the country.

Read the article here:

http://www.rollingstone.com/culture/features/lukes-best-chance-one-mans-fight-for-his-autistic-son-w431012

 

Read about Shared Living Collaborative here:

https://www.fraxa.org/turning-22-fragile-x-adults/

Andy Tranfaglia, who has fragile X, with Daniela Morse and Aurora the horse

Fulcrum Therapeutics Launched with $55 Million to Reactivate the Fragile X Gene

A new company has launched that will invest tens of millions in reactivating the fragile X gene.

fulcrum therapeuticsWith $55 million in investment funds, Fulcrum Therapeutics in Cambridge, MA, aim to develop small molecules to control gene expression. These potential new treatments would be based on controlling genetic on- and off-switches of disease genes. Fulcrum will start with two diseases: fragile X syndrome and a rare form of muscular dystrophy.

FRAXA is funding one of the founding scientists, Jeannie Lee, MD, PhD, of Harvard University, and has been working with others on the new Fulcrum team. In fact, Dr. Lee will be our speaker at the FRAXA Fall Fling fundraiser this September 30, in Cambridge, Mass.

Together, with your support and with support from new companies like Fulcrum, with support from FRAXA’s Nobel Laureate-laden Scientific Advisory Board and passionate Board of Directors, we are united more than ever in finding a cure for fragile X.

More about Fulcrum

http://www.fiercebiotech.com/biotech/third-rock-launches-gene-regulation-startup-55m

http://www.bizjournals.com/boston/blog/bioflash/2016/07/third-rock-goes-solo-with-55m-for-new-rare.html