FRAXA Research Foundation is spreading awareness across the world! We’d love to see you light up our world on July 22 as part of World Fragile X Day!
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NPR Feature – A Fragile X Treatment May Be On The Horizon
With a promising new treatment on the horizon, NPR reflects back at the past 10 years, providing a glimpse into both the science and research of Fragile X through the eyes of key researchers, in addition to the lives of this family, their quest for a cure, and what that may look like for their son, Andy.
Read morePharmacotherapeutic Effects of Cannabidiol (CBD) in Fragile X syndrome (FXS) and Autism Spectrum disorder (ASD)
This study will test CBD (cannabidiol) treatment in male and female Fragile X mice to learn how and why it works and whether gender affects responses to CDB treatment. Along with clinical trials, this study will help us to understand and optimize the potential of CBD as a behavior-regulating treatment for Fragile X.
Read moreNPR Short Wave, “A Fragile X Treatment May Be On The Horizon”
Katie Clapp and Michael Tranfaglia’s son was born with a genetic disorder that affects brain development. It makes it hard to learn language and basic daily tasks and often is accompanied by a host of other disorders. To help find a cure, they started a foundation and raised research money. After se…
Read moreHolly Roos Joins the FRAXA Team!
FRAXA Research Foundation is excited that long time Fragile X advocate and well-known figure within the Fragile X community, Holly Roos, is joining our team as Community Services Director. We are thrilled with the energy and enthusiasm Holly brings to the team.
Read moreBrain & Life, “A Mom Leads Efforts to Cure Fragile X Syndrome for Her Son and Others”
We haven’t found a cure yet, but we’ve moved closer to understanding fragile X syndrome and identifying treatment targets. We hope this will help our son and other families dealing with this life-changing condition.
Read moreCellular-Specific Therapeutic Targeting of Inhibitory Circuits in Fragile X Syndrome
Studies have shown that the function of inhibitory networks is disturbed in Fragile X. This abnormality is not well understood but appears to be secondary to abnormalities in metabotropic glutamate and endocannabinoid systems. With a $90,000 grant from FRAXA, Dr. Molly Huntsman’s team examined how these networks interact and how inhibitory deficits can best be remedied.
Read moreFRAXA Supports Increased Funding for NICHD
Within the past month, FRAXA Research Foundation has signed on to join the Friends of of National Institute of Child Health and Human Development (NICHD), asking for an increase government funding to research disorders such as Fragile X syndrome.
Read moreAuditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X
With a $90,000 grant from FRAXA, Dr. McCullagh and Dr. Achem Klug at the University of Colorado investigated whether auditory neural circuits are altered in Fragile X mice. They saw minor differences in these mice compared to B6 (control) mice in several measures of auditory acuity. Fmr1 mice had increased latency to the startle response for almost all conditions compared to B6 mice, suggesting altered timing to acoustic cues. These experiments show that, consistent with patient reports and anatomical/physiological data, the auditory system is altered in a mouse model of FXS, though with some potential compensation leading to a subtle behavioral impact.
Read moreClinical Trials and Cyclic AMP in Fragile X Syndrome: A Life Journey
In November 2020, a phase II clinical trial reported extremely successful results. This clinical trial of a PDE4D inhibitor from Tetra Pharmaceuticals was conducted by Dr. Elizabeth Berry-Kravis at Rush University Medical Center and funded by FRAXA Research Foundation. In this Simons Foundation lecture, Elizabeth Berry-Kravis traces 30 years of Fragile X research, from identifying its cause, through finding dozens of treatment targets, through a series of disappointing clinical trials.
Read moreScreening Combinatorial Pharmacological Therapies for Fragile X Syndrome
FRAXA Research Foundation has awarded a $90,000 research grant to Stanford University principal investigators Dr. Philippe Jacques Mourrain and Dr. Gordon Wang, along with postdoctoral fellow, Dr. Rochelle Coulson. They are evaluating additive effects of combinatorial drug treatments to correct a broad spectrum of deficits observed in Fragile X syndrome.
Read moreEducating Young Children with Fragile X Syndrome
When a team of elementary school teachers and therapists asked us to share strategies for working with young children who have Fragile X syndrome, we developed this session featuring tips, techniques, and stories. Katie Clapp, co-founder of FRAXA Research Foundation and parent of a young man with Fragile X, and Tracy Antonelli, whose two teenage boys have Fragile X, present this session to help teachers assist their students.
Read moreThe Why and How of FRAXA’s Work to Find a Cure for Fragile X
Thank you Talk Fragile X for having FRAXA’s cofounder Katie Clapp as a guest on your podcast! It was a pleasure to share why FRAXA got started and our motivation for finding effective treatments and ultimately a cure for Fragile X syndrome.
Read moreStarting 2021 Filled with Gratitude and Determination!
2020 was a year we will never forget. Because of this incredible community and dedicated supporters, we were able to pull through the most difficult year most of us have experienced.
Read moreFragile X Research Funding of $1 Million Offered for 2021
FRAXA plans to fund $1 million for a generous number of Fragile X research grants and fellowships in 2021. Our mission is to find specific treatments and ultimately a cure for Fragile X syndrome. We aim to bring practical treatment into current medical practice as quickly as possible; we prioritize projects that have a clear practical application and the results of which will be shared in a timely fashion.
Read moreIntegrating Human and Mouse Studies in Fragile X Syndrome – an NIH Center Approach
Presentations by:
Craig Erickson – Translational medicine and mechanistic studies of brain neurophysiology in Fragile X Syndrome: A NIH Center Overview
Ernest Pedapati – Network Mechanisms, Biomarkers, and Pharmacology of Fragile X Syndrome in Humans
Devin Binder – Network Mechanisms of Neurophysiology and Behavior in mouse models of Fragile X Syndrome
Kimberly Huber – FMRP Regulation of local and long-range neocortical circuits in the mouse: Links with EEG phenotypes
Developing Arbaclofen for Fragile X – Dr. Mark Bear 1:1 with FRAXA
Seven years ago, arbaclofen (STX209) was pulled from development, disappointing families around the US. Now MIT professor and FRAXA Investigator Dr. Mark Bear has founded Allos Pharma to bring it back. Dr. Bear sat down with FRAXA co-founder Katie Clapp to share the story and next steps.
Read moreTowards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids
Dr. Zhexing Wen and Dr. Peng Jin of the newly funded Fragile X Center of Excellence at Emory University School of Medicine join us in this seminar to present about Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.
Read moreInterrogate the Functions of FMRP in Brain Development Using Stem Cells
Dr. Xinyu Zhao of the Waisman Center and Department of Neuroscience at University of Wisconsin-Madison joins us in this seminar to present Interrogate the Functions of FMRP in Brain Development Using Stem Cells.
Read moreSincere Gratitude for a Successful #GivingTuesday 2020
From the bottom of our hearts, thank you. In a year filled with so much uncertainty, you truly rose to the occasion. From creating Facebook fundraisers to sharing why you give back, each one of you made a difference. With the help of our dedicated supporters and gifts from over 150 amazing donors, FRAXA Research Foundation raised $70,047 on #GivingTuesday.
Read moreAllos Pharma Revives Arbaclofen After 7 Years: New Hope for Fragile X Syndrome
Experience the revival of arbaclofen as Allos Pharma Inc launches a new development program, providing renewed hope for the Fragile X community. Discover the impact of this experimental drug and the determination of those who never gave up.
Read morePositive Results Reported in Phase II Fragile X Clinical Trial of PDE4D Inhibitor Zatolmilast from Tetra Therapeutics
Today, Tetra Therapeutics announces the first unequivocally positive phase 2 clinical trial in Fragile X syndrome, press release below. The results do not depend on carving out a subset of patients or post hoc analysis.
Read moreUse of EEG as a Biomarker for Diagnosis and Outcomes in Neurodevelopmental Disorders
A series webinars focused on current topics in Fragile X research featuring Charles A. Nelson III, PhD, Professor at Harvard Medical School and Carol Wilkinson, MD, PhD, Instructor at Boston Children’s Hospital.
Read moreGenome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells
Drs. Mahmoud Pouladi and Kagistia Utami at the Agency for Science, Technology and Research (A*STAR) in Singapore were awarded a $67,500 research grant from FRAXA Research Foundation and that led to much greater governmental funding to expand this work. Their goal is to reactivate the gene which is silenced in people who have Fragile X syndrome.
Read moreHealx Drug Repurposing Programme for Fragile X Syndrome
David Brown, MD, PhD, Ivan Angulo-Herrera, PhD and Anthony Hall of Healx present about the Drug Repurposing Programme for Fragile X syndrome.
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