FRAXA Research Foundation, Author at Fragile X Research

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 August 10, 2018August 10, 2018CRISPR

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.

Elle’s Fragile X Fundraiser

FRAXA Research Foundation Campaigns August 9, 2018August 13, 2018

Personal Story On February 9 of 2019 I will be 23, otherwise known as the Micheal Jordan year. Ryan Pitcher was 23 when I met him, and oh how it has changed my life in the most beautiful of ways. Here are some things I have come to learn about Ryan after having spent some time with him at the Pitcher household - Ryan loves Sprite and Cheezits, Nick Jonas, and New York City. He likes to spend his weekends taking the train into Grand Central Station to enjoy a NYC hot dog and he loves DJing in his basement to “I want it that way” by the Backstreet Boys. Everyone has things about them that make them who they are. Ryan has countless characteristics that I love so much, but one of the most impactful characteristics he has and always will have is his huge heart. He deeply caresRead more

Survey: Parent Decision Making to Inform Fragile X Syndrome Clinical Drug Trials

FRAXA Research Foundation Recruiting August 8, 2018August 8, 2018

New survey study from the National Institutes of Health (NIH) to investigate the decision-making process among parents considering enrolling their child with Fragile X syndrome in a clinical drug trial. Fill out a questionnaire which will ask you about factors related to deciding to enroll your child in a clinical drug trial, your views on clinical trials more generally, and potential barriers to participating in clinical trials. It will take you about 20 minutes.

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!

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.

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

FRAXA Research Foundation Berry-Kravis, Elizabeth • Clinical Trials • Recruiting • Rush University Medical Center July 10, 2018July 16, 2018Alzheimer's, autism, BPN14770, FDA, PDE4, sleep, Tetra Discovery Partners

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.

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • Binder, Devin • Current Research Grants • Ethell, Iryna • Pirbhoy, Patricia • Treatment Targets • University of California at Riverside June 20, 2018June 20, 2018EEG, endocannabinoid, hyperexcitability, hypersensitivity, matrix metalloproteinase, minocycline, MMP9, sound

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.

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Current Research Grants • Disease Mechanisms • Klug, Achim • McCullagh, Elizabeth • University of Colorado June 5, 2018June 5, 2018autism, hypersensitivity, neural network, sound

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.

Drew Zachary Wieber, 8, of Taylor Mill, KY

FRAXA Research Foundation Friend of FRAXA May 22, 2018June 7, 2018

Drew’s interests: iPad, “reading” books, parks, puzzles, school, car rides and loves hearing shows in a British accent (Peppa Pig, Small Potatoes) or in a Darth Vader type voice!

Three-Dimensional Model for Identifying Fragile X Treatments

FRAXA Research Foundation 2018 Grants • Current Research Grants • Emory University • Jin, Peng • Kang, Yunhee • Resources • Treatment Targets • Wen, Zhexing May 16, 2018June 5, 2018iPS, neural stem cells, organoid

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.

Gideon’s 50th Birthday

FRAXA Research Foundation Campaigns May 9, 2018August 9, 2018

Personal Story On June 5, 2018, Gideon will turn 50. Having known him for half of that time, I've learned a few things: he doesn't like surprises, he doesn't want a party, and he is VERY difficult to buy presents for. I also know that he is a devoted husband and father, and he would do anything to help his boys. If you felt inspired to honor his 'milestone' birthday in some way, I have an idea that I know would mean a tremendous amount to him. If you know Gideon and our family, you also know that Elliot was diagnosed with Fragile X syndrome when he was a toddler. Some of you may know that Jacob was diagnosed as a carrier of Fragile X syndrome. This will impact his future family. (FXS is the gift that keeps on giving!) There is no known cure for Fragile X syndrome, butRead more

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • Bear, Mark • Current Research Grants • Massachusetts Institute of Technology (MIT) • McCamphill, Patrick • Treatment Targets May 9, 2018May 9, 2018AFQ056, arbaclofen, drug tolerance, GABA, GSK3, lithium, mGluR5, Novartis, Roche

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.

Lincoln Bryant’s FRAXA Campaign

FRAXA Research Foundation Campaigns May 3, 2018May 3, 2018

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.

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

FRAXA Research Foundation Moine, Herve • Research Updates April 26, 2018April 26, 2018DgkK

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.

FRAXA Funded Researchers Present at MA Fragile X Conference

FRAXA Research Foundation Clinical Trials • Erickson, Craig • Events Recap • Wilkinson, Carol April 9, 2018July 10, 2018AstraZeneca, AZD7325, EEG, Pierce Family Fragile X Foundation

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.

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

FRAXA Research Foundation 2018 Grants • Berry-Kravis, Elizabeth • Clinical • Clinical Trials • Current Research Grants • Rush University Medical Center April 5, 2018April 12, 2018Alzheimer's, BPN14770, cyclic AMP, FDA, FRAXA-DVI, PDE4, Pierce Family Fragile X Foundation, Tetra Discovery Partners

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.

Zack Miraglia, 15, of Danvers, MA

FRAXA Research Foundation Friend of FRAXA April 2, 2018May 22, 2018

#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. Taylor Stevensonon 13 June 2013Taylor Stevensonon 13 June 2013Turning 22 with Fragile X Syndrome – What’s Next?on 12 September 2016Turning 22 with Fragile X Syndrome – What’s Next?on 12 September 2016Allison Eddy – a lovely young lady with Fragile Xon 13 June 2013Allison Eddy – a lovely young lady with Fragile Xon 13 June 2013Read more

Reintroducing FMRP to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants • Current Research Grants • Genetic Rescue • Turner, Raymond • University of Calgary, Canada • Zhan, Xiaoqin March 29, 2018March 30, 2018autism, Fragile X Research Foundation of Canada, potassium channels, TAT (Trans-Activator of Transcription)

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.

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

FRAXA Research Foundation Clinical Trials • Recruiting • Research Updates March 27, 2018July 10, 2018autism, EEG, Pierce Family Fragile X Foundation, sound

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.

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

FRAXA Research Foundation 2017 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Harvard University • Nelson, Charles A. • Recruiting • Wilkinson, Carol March 16, 2018July 10, 2018autism, EEG, Pierce Family Fragile X Foundation

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.

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

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Current Research Grants • Drug Repurposing • Healx February 8, 2018July 26, 2018drug repurposing, FDA, FRAXA-DVI, Healx

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.

FX-LEARN – Clinical Trial for Language Learning of AFQ056 in Children

FRAXA Research Foundation Berry-Kravis, Elizabeth • Clinical Trials • Recruiting • Rush University Medical Center February 1, 2018April 30, 2018AFQ056, Novartis

The purpose of this NeuroNEXT study is to find out if the drug AFQ056, made by the pharmaceutical company Novartis, is safe and has beneficial effects on language learning in children who have Fragile X syndrome (FXS). The study also aims to find out if a structured language intervention can help children with Fragile X syndrome communicate better.

Fragile X Clinical Trial of AZD7325 in Adults

FRAXA Research Foundation 2017 Grants • Biomarkers • Cincinnati Children's Hospital • Clinical • Clinical Trials • Current Research Grants • Erickson, Craig February 1, 2018April 3, 2018AstraZeneca, AZD7325, GABA, glutamate

With a $51,000 grant from FRAXA Research Foundation, Dr. Craig Erickson will conduct a double-blind, placebo-controlled clinical trial of AZD7325 in adults with Fragile X syndrome at Cincinnati Children’s Hospital. The compound being studied is an investigational new drug from AstraZeneca that targets GABA (A) receptors.

FRAXA Annual Appeal Raised $760,000

FRAXA Research Foundation FRAXA Updates January 16, 2018June 18, 2018

Thanks to your generous support, we surpassed our annual appeal goal of $600,000 and are one step closer to finding effective treatments and, ultimately, a cure for Fragile X syndrome. From November 6 to December 31, collectively we raised over $760,000 from over 1,000 donors! This means we will also receive the matching gift of $600,000 from the Sunshine Lady Foundation! We’d like to express our sincere gratitude to all of our donors who generously gave to FRAXA Research Foundation in 2017 and look forward to continuing the promising translational Fragile X research momentum in 2018. Our next round of research proposals will be coming in February, and we’re so excited to fund more cutting-edge research. We couldn’t do this without your support. We have an incredible community of families and friends. We are truly grateful for all. We are all in this together.Read more

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