FRAXA Research Foundation, Author at Fragile X Research

Understanding and Reversing Hypersensitivity to Sounds in Fragile X Syndrome

FRAXA Research Foundation 2018 Grants, Current Research Grants, Devin Binder, PhD, Iryna Ethell, PhD, Patricia Pirbhoy, PhD, 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, Elizabeth McCullagh, PhD, Klug, Achim, 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.

Gideon’s 50th Birthday

FRAXA Research Foundation Campaigns May 25, 2018June 4, 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

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, Kang, Yunhee, Peng Jin, PhD, 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.

Pharmacological Tolerance in the Treatment of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants, Current Research Grants, Mark Bear, PhD, Massachusetts Institute of Technology (MIT), Patrick McCamphill, PhD, 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 Herve Moine, PhD, 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 Carol Wilkinson, MD, PhD, Clinical Trials, Craig Erickson, MD, Events Recap April 9, 2018April 30, 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, Clinical, Clinical Trials, Current Research Grants, Elizabeth M. Berry-Kravis, MD, PhD, Rush University Medical Center April 5, 2018April 12, 2018Alzheimer, 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. This Is My Brother, speech by Elizabeth Clark at FRAXA’s Fall X Ballon 08 November 2013This Is My Brother, speech by Elizabeth Clark at FRAXA’s Fall X Ballon 08 November 2013Anders Zorović – A Portraiton 13 June 2013Anders Zorović – A Portraiton 13 June 2013Darren’s Smileon 07 January 2013Darren’s Smileon 07 January 2013Read more

Reintroducing FMRP to Reduce Symptoms of Fragile X Syndrome

FRAXA Research Foundation 2018 Grants, Current Research Grants, Genetic Rescue, Raymond Turner, PhD, 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, 2018March 29, 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, Carol Wilkinson, MD, PhD, Charles A. Nelson, PhD, Clinical, Current Research Grants, Harvard University, Recruiting March 16, 2018June 5, 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.

Fragile X Conference at Boston Children’s Hospital

FRAXA Research Foundation Boston Children's Hospital, Carol Wilkinson, MD, PhD, Craig Erickson, MD, Events February 12, 2018February 22, 2018autism, Pierce Family Fragile X Foundation

FRAXA and the Pierce Foundation are partners with Boston Children’s Hospital’s Fragile X Program and are pleased to help bring this important fragile X conference to the greater Boston community. Two FRAXA-supported researchers, Dr. Craig Erickson from Cincinnati Children’s Hospital and Dr. Carol Wilkinson from Boston Children’s Hospital will present their current work.

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, 2018April 30, 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 Clinical Trials, Elizabeth M. Berry-Kravis, MD, PhD, 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, Craig Erickson, MD, Current Research Grants 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

Novel Modulators of Potassium Channels to Treat Fragile X

FRAXA Research Foundation 2006-2010 Grants, 2011 Grants, 2012 Grants, 2013 Grants, 2014 Grants, 2015 Grants, 2016 Grants, 2017 Grants, Current Research Grants, Disease Mechanisms, Leonard Kaczmarek, PhD, Treatment Targets, Yale University December 25, 2017June 5, 2018Autifony Therapeutics, autism, glutamate, hypersensitivity, ion channel, mGluR, mGluR5, mRNAs, potassium channels, sound

With funding from FRAXA, the Yale University team of Leonard Kaczmarek, PhD showed that the firing pattern of suditory 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.

$17,469 Raised by Friends of FRAXA Volunteers at Bruins Game

FRAXA Research Foundation Events Recap, FRAXA Updates December 5, 2017June 18, 2018Boston Bruins Foundation

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!

Lucas Clark’s Family Page – Helping to Find a Cure

FRAXA Research Foundation Campaigns November 13, 2017June 18, 2018

2017 Update by Sidney Clark Dear Friends and Family, Lately we have been surrounded by so many devastating occurrences. Terrorist attacks, hurricanes, earthquakes, floods and fires have occurred one after another, and it seems like the world hasn’t had time to catch up. For a moment, I want you to put yourself in the head of one of the victims of these devastating occurrences. We are surrounded with external stressors that are beyond our control. You might feel overwhelmed, shocked, and left not knowing how to deal with the present situation. This is how my brother Lucas feels on a daily basis when triggered by seemingly insignificant things. If the food Lucas wants isn’t available, if his headphones are wrapped imperfectly around his phone, or if he is rushed anywhere, Lucas feels like his world is falling apart and immediately breaks down. Visiting a doctor for medical attention is traumatizingRead more

In Their Own Words: Reports From the International Fragile X Workshop

FRAXA Research Foundation Anis Contractor, PhD, Carolyn B. Smith, PhD, Events Recap, Frank Kooy, PhD, Herve Moine, PhD, Jeannie Lee, MD, PhD, Khaleel Razak, PhD, McGill University, Nahum Sonenberg, PhD, Patricia Cogram, PhD, Peter Todd, MD, PhD, Peter Vanderklish, PhD, Research Updates October 29, 2017June 18, 2018amygdala, autism, bumetanide, DgkK, drug repurposing, EEG, ERK, FDA, Fragile X Meeting, GABA, ganaxolone, glutamate, hyperexcitability, hypersensitivity, metformin, mGluR5, minocycline, mRNAs, Rett syndrome, seizure, sleep, sound

The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words. These brief updates from researchers investigating fragile X.

Connectivity as a Biomarker for Future Fragile X Clinical Trials

FRAXA Research Foundation 2006-2010 Grants, 2011 Grants, 2017 Grants, Andreas Frick, PhD, Biomarkers, Current Research Grants, Kamila Castro Grokoski, PhD, Neurocentre Magendie, France October 26, 2017March 21, 2018autism, channelopathy, hypersensitivity, ion channel, MRI, mRNAs

With a 2017 grant from FRAXA Research Foundation of $90,000, Dr. Andreas Frick’s team at Neurocentre Magendie, in France, will test non-invasive imaging using magnetic resonance imaging (MRI) as a potential biomarker for future fragile X syndrome clinical trials.

Gail O’Mara Raised Funds for Fragile X Research

FRAXA Research Foundation Events Recap, FRAXA Updates October 13, 2017February 21, 2018

To recognize and honor the efforts of my delightful grandson James, who with undaunted spirit has met the challenges of living with Fragile X, I plan to run the 2017 New York City Marathon.

← Previous