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 Fragile X Fundraiser

Elle’s Fragile X Fundraiser

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

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

Tetra Discovery Partners today announced the initiation of a Phase 2 study of BPN14770 as a potential treatment for Fragile X Syndrome, the most common genetic form of autism. A selective small molecule inhibitor of the phosphodiesterase type-4D (PDE4D) subtype, 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.

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Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation over 2018-2019, Drs. Devin Binder, Iryna Ethell, and Patricia Pirbhoy at the University of California at Riverside aim to understand – and reverse – hypersensitivity to sound in Fragile X syndrome.

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

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

FRAXA Research Foundation has renewed Dr. Elizabeth McCullagh’s 2017 FRAXA Fellowship for a second year. Dr. McCullagh and Principal Investigator Dr. Achem Klug are investigating the “cocktail party effect” in Fragile X mice. 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. If clear differences are found in this circuit, they could be used as potential biomarkers for Fragile X clinical trials.

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Three-Dimensional Model for Identifying Fragile X Treatments

Three-Dimensional Model for Identifying Fragile X Treatments

With a $90,000 grant from FRAXA Research Foundation awarded in 2018, Dr. Peng Jin and Dr. Juhnee Kang at Emory University will develop and analyze Fragile X brain organoids to understand the disorder and identify treatment targets.

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Pharmacological Tolerance in the Treatment of Fragile X Syndrome

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation, Dr. Patrick McCamphill and Dr. Mark Bear at Massachusetts Institute of Technology (MIT) will further investigate drug tolerance and ways to overcome it. 

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Lincoln Bryant’s FRAXA Campaign

Lincoln Bryant’s FRAXA Campaign

A few months ago we opted to do genetic testing on Lincoln to see if there was an underlying reason for his developmental delays. He was diagnosed with Fragile X syndrome. Like so many people when they first get this diagnosis, we were sad and scared for him and his future. I had a lot of confusion and once I got on the internet I was able to find FRAXA Research Foundation and answers to a lot of my questions.

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Lysogene Partners with FRAXA Investigator Dr. Hervé Moine to Develop Gene Therapy for Fragile X

Lysogene Partners with FRAXA Investigator Dr. Hervé Moine to Develop Gene Therapy for Fragile X

A research project funded by FRAXA has led to new fragile x gene therapy initiative, this time in France. Lysogene, a French biopharmaceutical company working to develop gene therapy treatments for brain disorders, is partnering with FRAXA Investigator Dr. Herve Moine to tackle Fragile X syndrome.

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FRAXA Funded Researchers Present at MA Fragile X Conference

FRAXA Funded Researchers Present at MA Fragile X Conference

On Saturday Boston Children’s Hospital (BCH) hosted a Fragile X educational conference, Success Strategies for Individuals and Families Impacted by Fragile X and two of our funded researchers, Dr. Craig Erickson, and Carol Wilkinson, MD, PhD, presented giving an update on their current Fragile X clinical trials. Both being funded by FRAXA.

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Fragile X Clinical Trial of New PDE4 Inhibitor from Tetra funded by FRAXA

Fragile X Clinical Trial of New PDE4 Inhibitor from Tetra funded by FRAXA

With a $200,043 grant from FRAXA Research Foundation in April 2018, Dr. Elizabeth Berry-Kravis will conduct a Phase 2 clinical trial of a new PDE4 inhibitor from Tetra Discovery Partners in adults with Fragile X syndrome.

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Zack Miraglia, 15, of Danvers, MA

Zack Miraglia, 15, of Danvers, MA
#FriendofFRAXAInterestsSwimming, watching/collecting movies, reading books, playing mini golf, playing Wii, and being with his family. ChallengesThe dentist, thunder and other loud noises. Become a #FriendofFRAXAIf 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. Niklas Watkins – a Fragile X Portraiton 09 September 2013Niklas Watkins – a Fragile X Portraiton 09 September 2013Allison Eddy – a lovely young lady with Fragile Xon 13 June 2013Allison Eddy – a lovely young lady with Fragile Xon 13 June 2013Drew Zachary Wieber, 8, of Taylor Mill, KYon 22 May 2018Drew Zachary Wieber, 8, of Taylor Mill, KYon 22 May 2018Read more

Reintroducing FMRP to Reduce Symptoms of Fragile X Syndrome

Reintroducing FMRP to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation and the Fragile X Research Foundation of Canada have 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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Now Recruiting: Clinical Study of EEG for Young Boys at Boston Children’s Hospital

Now Recruiting: Clinical Study of EEG for Young Boys at Boston Children’s Hospital

Dr. Carol Wilkinson, MD PhD, and Dr. Charles Nelson, PhD, at the Labs of Cognitive Neuroscience at Boston Children’s Hospital are recruiting young boys with Fragile X syndrome (FXS) to participate in a study investigating how differences in brain activity affect learning, language, and behavior in FXS. If we can determine what distinguishes one brain from another, and if a drug works with a particular neural marker or set of neural markers, this would permit matching drugs based on objective biological markers, a personalized medicine, rather than defaulting to the current method of trial and error.

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

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

This 2017 grant of $90,000 over two years enabled Dr. Wilkinson to study EEG in young children with Fragile X syndrome at Boston’s Children’s Hospital. She is working with principal investigator, Dr. Charles Nelson, Professor of Pediatrics at Harvard Medical School and a specialist in cognitive neuroscience. Co-funded by the Autism Science Foundation and the Pierce Family Fragile X Foundation.

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Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X

Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X

FRAXA Research Foundation initially partnered with Healx in 2016 to identify existing drugs with potential to treat Fragile X syndrome, using machine learning algorithms and computational biology.  The study produced results, and now FRAXA and Healx have launched a new round of studies to evaluate combinations of compounds, including both drugs and natural products.

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