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.
FRAXA Research Grants Drive Big Investments in Fragile X
FRAXA is working with hundreds of university labs and more than 30 pharmaceutical companies around the world. Dr. Michael Tranfaglia spends a lot of his time advising and collaborating with industry partners.
Meet Noah!
Meet #FriendofFRAXA Noah! 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.
Can CRISPR Cure Fragile X Syndrome?
CRISPR/Cas9 was used by MIT researchers to remove the molecular tags that keep the mutant gene shut off in Fragile X syndrome neurons and resulted in some of them producing protein normally.
Newly Diagnosed with Fragile X – What Comes Next?
In 2012, Jessica Haugen & Jeff Eliason learned their 1-year-old son Larry had Fragile X. The news brought shock, denial, and heartbreak.
Meet Theo!
Meet #FriendofFRAXA Theo! 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.
Repurposing Study II: Evaluating Combinations of Drugs to Treat Fragile X
FRAXA partnered with Healx to use AI to find approved drugs and drug combos that could treat Fragile X. Top candidates are now being tested in Fragile X models.
Meet Giovanni!
Meet #FriendofFRAXA Giovanni! 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.
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.
Fragile X Clinical Trial of AZD7325 in Adults
FRAXA funded a trial of AZD7325, a drug that boosts GABA(A), in adults with Fragile X. Led by Dr. Craig Erickson, it also tested innovative biomarkers for future trials.
Meet Adam!
Meet #FriendofFRAXA Adam! 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.
FRAXA Annual Appeal Raised $760,000
Together we raised $760K and earned a $600K match from the Sunshine Lady Foundation, fueling hope for Fragile X treatments and a cure!
Meet Graham!
Meet #FriendofFRAXA Graham! 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.
CRISPR Reactivation of the Fragile X Gene
Using CRISPR to reactivate FMRP, “We are trying to target the first event that goes wrong in Fragile X syndrome”, says FRAXA Investigator, Dr. Peter Todd.
$17,469 Raised by Friends of FRAXA Volunteers at Bruins Game
Over 50 #FriendsofFRAXA volunteers sold $34,938 in 50/50 raffle tickets at the Bruins game—raising $17,469 for Fragile X research!
Meet Makenzie!
Meet #FriendofFRAXA Makenzie! 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.
Coming Full Circle – Kathy May Returns back to FRAXA
After 20 years, FRAXA co-founder Kathy May returns, saying, “There will be a cure. FRAXA is the reason for this hope.”
Effects of Metformin in Fmr1 Knockout Mouse Model of Fragile X Syndrome
Metformin, a safe diabetes drug, activates AMPK to rebalance protein synthesis. FRAXA-funded work investigated its potential to treat Fragile X.
Newly Discovered Regulatory Pathways in Fragile X
Studies at Yale University and elsewhere show FMRP plays a significant role in regulation of potassium channels. Potassium channel opener drugs could rescue some symptoms of Fragile X.
Drug Repurposing Study Results Accelerate Progress Towards Fragile X Treatments
Drug repurposing leverages the detailed information available on approved drugs and reduces the time and money needed to deliver safe “new” treatments, with greater success rates and quicker impact.
In Their Own Words: Reports From the International Fragile X Workshop
The 18th International Fragile X Workshop in Quebec was a great success, featuring more Fragile X research than ever before!
Brain Imbalance Target of Dr. Erickson’s New Clinical Trial
Dr. Erickson’s trial targeted brain imbalance in Fragile X by boosting GABA signaling with AZD7325, aiming to restore excitatory–inhibitory balance and improve symptoms.
Fragile X in the Forefront of International Conference
The 18th International Fragile X Workshop kicks off in Quebec, uniting global scientists to share breakthroughs in Fragile X and ASD.
Combinatorial Drug Treatment in a Model of Fragile X Syndrome using Novel Biomarkers
University of California researchers Khaleel Razak, PhD, and Jonathan W. Lovelace, PhD, explored drug combinations to limit hypersensitivity to sounds in Fragile X mice.