29 Years of Outstanding Fragile X Research - The FRAXA Timeline
Discover the evolution of Fragile X research through the work of FRAXA Research Foundation, which is dedicated to finding effective treatments and ultimately a cure for Fragile X syndrome. This interactive timeline showcases milestones, breakthroughs, and key events that have shaped our evolving understanding of Fragile X syndrome.
Explore these pivotal moments to understand the unwavering dedication of researchers and FRAXA's far-reaching impact on countless lives. Join us as we look ahead to a future full of hope and promise for individuals and families affected by Fragile X.
Fragile X Gene Mutation Is Discovered
The Fragile X gene, FMR1, is discovered by a group led by Ben Oostra, Stephen Warren, David Nelson, and Thomas Caskey (not pictured). The gene is located at a fragile site on the X chromosome called "FRAXA". A mutation at this site prevents the gene from producing its normal protein, which causes Fragile X syndrome.
Fragile X Protein Is Identified
Fragile X protein is identified and cloned by the gene’s discoverers. This protein, FMRP, is lacking in people who have Fragile X syndrome.
FRAXA Research Foundation Is Founded
FRAXA Research Foundation founded by 3 parents, Katie Clapp, Michael Tranfaglia, and Kathy May.
FRAXA Funds First Research Project
FRAXA funds first research project led by Ted Brown, MD, PhD, New York State Institute for Basic Research, to develop a yeast model of Fragile X.
FRAXA Funds First Gene Therapy Study
FRAXA funds first gene therapy study performed by Jude Samulski, PhD, University of North Carolina.
FRAXA Start Fragile X Advocacy in Washington, DC
FRAXA begins first ever Fragile X advocacy in Washington, DC; Congress recognizes critical need for Fragile X research for first time.
FRAXA Launches Fragile X Listserv
FRAXA launches first ever online Fragile X community “the listserv” providing a global lifeline prior to social media.
Fragile X Knockout Mouse Model Introduced
Fragile X knockout mice shared with the worldwide research community. Study with these mice leads to first understanding of the cause of Fragile X.
FRAXA launches first Fragile X website on the internet.
FRAXA Funds Dr. Hagerman to Run a Clinical Trial
Randi Hagerman, MD, receives FRAXA grant for clinical trial of melatonin to help Fragile X syndrome patients sleep.
FRAXA's Scientific Advisory Board Welcomes Nobel Laureate
FRAXA's Scientific Advisory Board welcomes the first of three Nobel Laureates, Dr. James Watson.
Cause of FXTAS Discovered
While working on a FRAXA grant aimed at reactivating the FMR1 gene, Flora Tassone, PhD, and Paul Hagerman, PhD, made a groundbreaking discovery - the cause of Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) - increased FMR1 mRNA.
First Nobel Laureate Conducts Fragile X Research
Eric Kandel, MD, made history by becoming the first Nobel Laureate to conduct Fragile X research with a FRAXA grant titled Transgenic Mouse Model Studies of Fragile X Syndrome.
FRAXA Launches First Annual Fragile X Banbury Research Meeting
FRAXA organized and hosted the inaugural Fragile X Banbury Research meeting, which paved the way for many discoveries and trials. These meetings were held annually until 2011.
Children’s Health Act of 2000 Creates and Funds 3 Research Centers of Excellence
The Children’s Health Act of 2000, which increased federal funding for research on children's diseases, including Fragile X, led to the creation and funding of three research Centers of Excellence.
First National Fragile X Awareness Day
The US Senate established the first National Fragile X Awareness Day after the tireless efforts of FRAXA Research Foundation, David Busby (father of two sons with Fragile X syndrome), and the first Fragile X Senate Champions, John Edwards and Chuck Hagel.
mGlur Theory of Fragile X Formulated
With FRAXA funding, Mark Bear, PhD, and Kim Huber, PhD, formulate the mGluR theory of Fragile X.
FRAXA Funded Researches Identify Specific RNA Targets of FMRP
Robert Darnell, MD, PhD, and Jennifer Darnell, PhD, made a groundbreaking discovery about Fragile X syndrome by identifying and publishing a list of the molecular targets of FMRP. Their research, made possible by a FRAXA funded research grant, led to a new understanding of the disorder.
FRAXA Funds First Clinical Trial of an Investigational New Drug
The first clinical trial of an investigational new drug, Ampakine, was conducted by Elizabeth Berry-Kravis, MD, PhD, and Randi Hagerman, MD, with funding from FRAXA.
FRAXA Funds Clinical Trial of the Available Drug Lithium
FRAXA funds clinical trial of the available drug lithium by Elizabeth Berry-Kravis, MD, PhD to find out if it improves the behaviors and learning deficits seen in Fragile X syndrome.
Roche, Novartis, and Seaside Therapeutics All Join the Fragile X Syndrome Field
Roche, Novartis Pharmaceuticals, and Seaside Therapeutics all join the Fragile X syndrome field, hunting for mGluR antagonists to treat Fragile X.
Doris Buffett Challenge Doubles FRAXA's Fragile X Research Funding
Thanks to the Doris Buffett Challenge, "The sky is the limit!" - an unlimited matching gift challenge - FRAXA Research Foundation was able to double its funding for Fragile X research.
New York Times Front Page Reports Success of Novartis Trial
New York Times front page reports success of first Novartis Fragile X clinical trial, features FRAXA Research Foundation. Bloomberg News and NPR also cover the story.
FRAXA Drug Validation Initiative (FRAXA-DVI) Funded
FRAXA Drug Validation Initiative (FRAXA-DVI) funded to provide a standard platform to test potential treatments using mice. Goes on to complete preclinical testing of 100+ compounds.
FRAXA Starts Working with Tetra Therapeutics
FRAXA starts working with Tetra Therapeutics to test their PDE4D inhibitor for Fragile X syndrome. PDE4 inhibitors are also potential treatments for Alzheimer’s.
First Use of Artificial Intelligence in Fragile X Syndrome
First use of Artificial intelligence (AI) in Fragile X syndrome. FRAXA funds University of Cambridge (England) startup Healx to use Artificial Intelligence to identify the most promising available drugs to treat Fragile X syndrome.
FRAXA Launches Collaboration with Purposeful
FRAXA launches collaboration with Purposeful, a drug repurposing company based in Athens, Greece, to use their advanced artificial intelligence and machine learning platform to generate predictions of the best treatments for Fragile X syndrome.
Positive Results Reported in Phase 2 Fragile X Clinical Trial of PDE4D Inhibitor
The FRAXA-funded Phase 2 clinical trial conducted by Tetra Therapeutics investigating a PDE4 inhibitor reported significant cognitive improvement in Fragile X syndrome, marking the first unequivocally positive clinical trial result after years of rational drug discovery efforts.
FRAXA-DVI Successfully Tests Available Medicines Predicted by Purposeful
FRAXA Drug Validation Initiative (FRAXA-DVI) successfully tests available medicines predicted by Purposeful to be effective for Fragile X syndrome
FRAXA Launches World Fragile X Day
FRAXA Research Foundation launches World Fragile X Day to celebrate individuals affected by Fragile X syndrome and their families, and to raise awareness worldwide.
FRAXA Funds Clinical Trial of Drug Combination Predicted by Purposeful
FRAXA Research Foundation funds clinical trial of ergoloids/5-hydroxytryptophan combination predicted by Purposeful and validated in the mouse model by FRAXA Drug Validation Initiative (FRAXA-DVI).
FRAXA Passes the $30 Million Mark in Direct Research Funding
FRAXA Research Foundation passes the $30 million mark in direct Fragile X research funding.
FRAXA Funds Collaboration to Build Drug Testing Platform in Belgium
FRAXA funded a collaboration between Kantify, an Artificial Intelligence company, and the lab of Frank Kooy, PhD, to build a new drug testing platform in Belgium for evaluating treatments for Fragile X syndrome.
Fragile X Banbury Research Meeting Returns
FRAXA Research Foundation hosts special Fragile X Banbury Research meeting to discuss breakthroughs in gene reactivation and gene therapy for Fragile X.
Multiple Large Phase 3 Fragile X Clinical Trials
Large Phase 3 clinical trials are currently recruiting participants for Tetra Therapeutics' PDE4D inhibitor and Zynerba Pharmaceuticals' CBD gel.