FRAXA Research Foundation

The Fragile X journey is challenging, but you don’t have to navigate it alone. There’s still time to join us on December 12 at 12:00 pm ET for Fragile X Family Conversations: Sharing, Learning, Supporting – a virtual gathering for families and caregivers. This is a new opportunity to connect with others who understand, share experiences, and offer encouragement. With FRAXA’s team of fellow Fragile X parents, we’re creating a space to listen, learn, and build supportive connections together. Seats are limited – don’t wait! Register now to reserve your spot: https://lnkd.in/eCqjQEdb #FragileX #FXResearch #RareDisease #FamilySupport #InclusiveCommunity #HopeInResearch

This Thanksgiving, we pause to thank you for your unwavering support of FRAXA’s mission to find effective treatments and ultimately a cure for Fragile X syndrome. As parents of individuals with Fragile X, we know firsthand the challenges and the importance of every step forward. Together, we’ve driven meaningful advances this year—funding new research, supporting families, and bringing hope closer than ever before. Your dedication is what makes progress possible. Thank you for being an essential part of this journey toward a future where individuals with Fragile X and their families can thrive. From our FRAXA family to yours, we wish you a holiday filled with gratitude, hope, and connection. #FragileX #FXResearch #Thanksgiving2024 #Gratitude #RareDiseaseCommunity #GeneTherapy #NeurologicalDisorders #FamilySupport #HopeForTheFuture #GivingThanks

Harvard Medical School investigator Jeannie Lee, MD, PhD, has won a grant from SFARI (The Simons Foundation) to advance her work on reactivating the mutated gene responsible for Fragile X syndrome. With prior FRAXA funding, Dr. Lee discovered how "R-loops" can shrink this mutation—a promising approach to gene reactivation. This new support from SFARI will further propel these advances. https://lnkd.in/eEYpB8qS #FragileX #FXResearch #GeneTherapy #Genetics #ScientificAdvances #NeurologicalResearch #SFARI #MedicalInnovation #ResearchFunding #Collaboration

For 22 years, Jason Mazzola’s life was shaped by the challenges of Fragile X syndrome — severe anxiety, communication difficulties, and constant supervision. But in 2023, everything changed. After completing a double-blind clinical trial, Jason began taking zatolmilast as part of an open label extension. His world opened up. Now, he walks downtown by himself, gets his haircut on his own, and even holds a job. His mother, Lizzie, shared, “He wouldn’t have done any of this before.” This is why FRAXA is committed to advancing research that changes lives. With your support, we’re also driving new therapies like ASO treatments, gene reactivation, and protein replacement therapies — approaches that target the root cause of Fragile X syndrome. Together, we can turn hope into reality for families like Jason’s. https://lnkd.in/eQcZHKnj #FragileX #FXResearch #FragileXAwareness #RareDisease #GeneTherapies #ClinicalTrials #Neuroscience #MedicalResearch #FamiliesFirst #HopeForFragileX

We are sharing this information from Shionogi in case it is useful for anyone participating in the clinical trial of zatolmilast for adolescents: "We would like to clarify any confusion there may be in light of anticipated minor scheduling adjustments for the CNS-204 study of zatolmilast in adolescents. The study is ongoing and we are grateful for your continued interest. Due to minor delays in the supply logistics chain, individuals whose first study visit falling between November 28 and December 13, 2024 will need to be adjusted to another date either before or after that time frame. Individuals who are already enrolled in the trial will be unaffected. We apologize for any inconvenience and will work closely with you to offer another visit date outside of the short maintenance window mentioned above. Please reach out to the Shionogi team with any questions via email at medinfo@shionogi.com or phone at 1-800-849-9707 between 9 am and 5 pm ET."

As we kick off FRAXA's 2024 Annual Appeal, we are humbled by a $100,000 gift from the Berg and Schatz families, honoring young Cooper, who lives with Fragile X syndrome. Their generosity will enable FRAXA to fund two new research teams next spring—propelling us closer to treatments and, one day, a cure. This donation is a powerful reminder of the resilience and hope that define families impacted by Fragile X. Together, with every donation, we are making strides in advancing research that holds the potential to change lives. We invite you to join in supporting this mission and helping unlock the next steps in Fragile X advances. #FragileX #FXResearch #RareDisease #ScientificAdvances #MedicalResearch #PediatricResearch #Neurology #HopeInAction #GeneticDisorders #PhilanthropyForGood

Calling all families navigating the Fragile X journey! Join us on December 12 at 12:00 pm ET for Fragile X Family Conversations: Sharing, Learning, Supporting. This exclusive event is a space just for families and caregivers to connect, share experiences, and offer each other support. These sessions provide unique opportunities to brainstorm with others who truly understand the daily challenges of Fragile X. Each of us on FRAXA's team is a Fragile X parent and we’re here to offer a welcoming community where families can feel seen, heard, and hopeful. Space is limited – register now to reserve your spot! #FragileX #FXResearch #GeneticResearch #RareDisease #CommunitySupport #FamilySupport #NeurologicalDisorders #InclusiveCommunity #HopeInResearch #FamilyConnections

Families affected by Fragile X syndrome can now explore a unique opportunity in the RECONNECT clinical trial, led by Harmony Biosciences. With flexible participation options, including both at-home and in-clinic visits, RECONNECT is open to individuals ages 3-29 to help evaluate potential treatments for behavioral symptoms in Fragile X. Learn more here: https://lnkd.in/eu4ZyrFd #FragileX #FXResearch #HarmonyBiosciences #GeneticResearch #FamilyCare

The latest advances in Fragile X syndrome research are moving us closer to impactful treatments. Robert H. Ring, CEO of Kaerus Bioscience Ltd. Bioscience, is at the forefront, collaborating with FRAXA to develop BK channel openers—an innovative therapeutic approach targeting the core challenges of Fragile X. These developments have the potential to not only address symptoms of Fragile X but also to impact the broader neurodevelopmental disorder landscape, including autism. With FRAXA's continued support in validating this research, we’re pushing one step closer to transformative treatments. #FragileX #FXResearch #GeneTherapy #Neurodevelopment #ClinicalTrials #InnovationInScience #AutismResearch #ScientificDiscovery #GeneticResearch #PharmaceuticalResearch https://lnkd.in/eNsP_CB6

💬 "If I had any advice for young scientists: utilize your strength. We all have weaknesses. Compensate for those weaknesses and once you define them and if you keep chipping away ..." — Dr. Lynne Maquat FRAXA has been funding Dr. Maquat's research on Fragile X since 2021. Her groundbreaking work on RNA biology has advanced our understanding of Fragile X syndrome. She was just honored with the 2024 Albany Medical Center Prize in Medicine and Biomedical Research; only 2 weeks ago, she also received the Dr. Paul Janssen Award for Biomedical Research. Let’s keep pushing the boundaries of science, just like Dr. Maquat! 👏 #FragileX #FXResearch #RNA #BiomedicalResearch #WomenInScience #MedicalInnovation #RareDiseases #NeurologicalDisorders #CysticFibrosis #URMC #Perseverance