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.
With a 2013-2014 FRAXA Research Grant, Principal Investigator Marius Wernig, PhD and FRAXA Fellow Samuele Marro, PhD at Stanford University found that the Fragile X mutation impairs homeostatic plasticity in human neurons, by blocking synaptic retinoic acid signaling. Retinoic acid is a metabolite of Vitamin A. The system they have developed could provide a powerful new cellular biomarker for screening many treatment approaches.
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.
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!
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.
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.
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.
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.
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.
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.
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.
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.
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.
FRAXA Research Foundation has funded a clinical trial of an investigational new drug, led by Dr. Elizabeth Berry-Kravis at the Rush Fragile X Clinic in Chicago. This trial will treat 30 adult males with Fragile X syndrome with a PDE4D allosteric inhibitor from Tetra Discovery Partners using in a crossover design, so that everyone gets active drug for part of the time and placebo for part of the time.
#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 email@example.com. We welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike. Drew Zachary Wieber, 8, of Taylor Mill, KYon 22 May 2018Drew Zachary Wieber, 8, of Taylor Mill, KYon 22 May 2018Zack Miraglia, 15, of Danvers, MAon 02 April 2018Zack Miraglia, 15, of Danvers, MAon 02 April 2018Read more
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.
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 (2-7 years) with Fragile X syndrome (FXS) to participate in a study investigating how differences in brain activity affect learning, language, and behavior in FXS.
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.
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.
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.
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.
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
With funding from FRAXA over 2015-2017, the Yale University team of Leonard Kaczmarek, PhD showed that the firing patterns of auditory neurons in response to repeated stimulation is severely abnormal in Fragile X mice. Based on these results, they are collaborating with the UK-based company Autifony to develop advanced compounds which may reverse these deficits.
Over 50 #FriendsofFRAXA showed up on the the day after Thanksgiving, November 24, at the Bruins game against the Pittsburgh Penguins to sell 50/50 raffle tickets. Our amazing volunteers sold $34,938 in tickets resulting in $17,469 donated to FRAXA research. This was the highest amount the Bruins sold this year in raffle tickets!