Sex Differences and the Role of Estrogen Receptors in Fragile X
Fragile X syndrome researchers are studying how estrogen receptors shape brain activity and may explain why males and females experience symptoms differently.
Patrick’s PALS 28th Annual Basketball Tournament for FRAXA Breaks Record
Recap of Patrick’s PALS 28: a successful 3-on-3 basketball fundraiser in Boston, raising $170,000+ for FRAXA Research Foundation.
Two-Med Combo Normalized Behavior, Improved Memory in Fragile X Mice
Treating Fragile X might require a combination of drugs. FRAXA-DVI tested ibudilast and gaboxadol in Fragile X mice. Together they rescued a wide array of symptoms.
Celebrating Success at Patrick’s PALS 27th Annual 3-on-3 Basketball Tournament for FRAXA
Recap of Patrick’s PALS 27: a successful 3-on-3 basketball fundraiser at Bentley University, raising $150,000+ for FRAXA Research Foundation.
ASOs and Fragile X: Addressing the Most Asked Questions
Explore the potential of ASOs in treating Fragile X syndrome & FXTAS. Dive into a comprehensive Q&A addressing key questions and breakthrough findings.
SRC Family Kinase Inhibitor as a Potential Treatment for Fragile X Syndrome
This $100,000 FRAXA grant will fuel the Smith lab’s new approach to treating Fragile X syndrome using Saracatinib, originally a cancer drug.
Fragile X Syndrome and Cancer Research: Unexpected Links and Opportunities for Collaboration
Discover unexpected links between Fragile X Syndrome and cancer. Studies show people with Fragile X have much lower cancer rates. Explore new opportunities for collaboration in this promising research.
FRAXA Investigator Lynne Maquat Awarded 2023 Gruber Genetics Prize
Dr. Maquat discovered NMD, a key surveillance system in the body that protects against mistakes in gene expression. With funding from FRAXA she is tackling Fragile X syndrome.
Meet Archie!
Meet #FriendofFRAXA Archie! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.
Promising Results of Preclinical Study of ANAVEX®2-73
We are excited to share that Anavex Life Sciences announced today that preclinical data of the ANAVEX®2-73 (blarcamesine) study in Fragile X syndrome were published in the peer-reviewed journal, Scientific Reports.
Fragile X Syndrome: In Pursuit of a Cure Webinar
Global webinar “Fragile X Syndrome: In Pursuit of a Cure” on July 22, 2021 commemorated World Fragile X Day. Over 5,000 registered from more than 50 countries.
Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells
This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.
Towards 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.
Scientists Find a New Way to Reverse Symptoms of Fragile X
FRAXA Investigator and MIT Professor Mark Bear and his colleagues have identified a valuable new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target for Fragile X. The catch is that, so far, GSK3 beta inhibitors have proven too toxic for regular use. Dr. Bear’s new discovery opens up the possibility of developing more selective compounds with less toxicity and fewer side effects. Interestingly, lithium inhibits both GSK3 versions – alpha and beta.
Patrick’s PALS 23rd Annual Basketball Tournament Raises $140,000 for Fragile X Research
Patrick’s PALS expanded to 36 teams! The Gray Team topped past champs Kline—winning twice to become Patrick’s PALS XXIII Champions!
Metformin and Aberrant Insulin Signaling in a Fragile X Mouse Model
FRAXA-funded research is revealing how insulin signaling is altered in Fragile X and whether lowering it, including with metformin, could ease symptoms.
Takeaways from Fragile X Advocacy Day
At my first Fragile X Advocacy Day, I met with Congress and families, advocating together for research and hope.
Impact of the Fragile X Community
Because of you, FRAXA invests $1M+ each year in Fragile X research and helped launch $35M more in studies leading to clinical trials.
Metformin, Diabetes Drug, Potential Fragile X Treatment
“We treated mice with metformin and corrected all the core Fragile X deficits. We are optimistic about using metformin in human clinical trials. This is a generic drug with few side effects” says Nahum Sonenberg, PhD, James McGill Professor, Department of Biochemistry, McGill Cancer Center, McGill University.
Bryostatin Restores Learning and Memory in Adult Fragile X Mice
A bizarre marine critter found off the California coast — Bugula neritina— is the only known source of a potential new Fragile X treatment, Bryostatin. Last month, FRAXA sat down with scientists from Neurotrope BioScience, a specialty biopharmaceutical company developing medicines for rare diseases and Alzheimer’s based on Bryostatin. Their Fragile X program is based on research by a West Virginia team led by Daniel Alkon, MD, which showed that Bryostatin-1 restores hippocampal synapses and spatial learning and memory in adult Fragile X mice.
Fragile X Syndrome Protein Linked to Breast Cancer Progression
Dr. Claudia Bagni’s team discovered that FMRP can act as a master switch in aggressive breast cancer, controlling proteins that drive invasion and metastasis.
What Works, and What Doesn’t
Early on, no one knew which path would work. Now the results are clear, and they’re directing FRAXA toward the next major Fragile X treatment breakthrough.
Genetic and Pharmacologic Manipulation of PI3K Activity in FXS: Assessing Potential Therapeutic Value
Targeting the PI3K/mTOR cascade — specifically p110β — in Fragile X mice reversed neural and behavioral dysfunctions, validating it as a treatment pathway.
FMR1 Repression and the Signals to Chromatin
With $70K from FRAXA, Dr. Assam El-Osta’s team at Peter MacCallum Cancer Institute studied FMR1 silencing and histone regulation in Fragile X.