Fragile X Syndrome Timeline

30 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.

1991

Fragile X Gene Mutation Is Discovered

Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.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.

1991

1991

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.

1991

1994

FRAXA Research Foundation Is Founded

FRAXA Research Foundation founded by 3 parents, Katie Clapp, Michael Tranfaglia, and Kathy May.

1994

1994

FRAXA Funds First Research Project

W Ted Brown, MD, PhDFRAXA 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.

1994

1995

FRAXA Funds First Gene Therapy Study

FRAXA funds first gene therapy study performed by Jude Samulski, PhD, University of North Carolina.

1995

1995

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.

1995

1995

FRAXA Launches Fragile X Listserv

FRAXA launches first ever online Fragile X community “the listserv” providing a global lifeline prior to social media.

1995

1996

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.

1996

1998

fraxa.org Launches

FRAXA launches first Fragile X website on the internet.

1998

1998

FRAXA Funds Dr. Hagerman to Run a Clinical Trial

Randi Hagerman, MDRandi Hagerman, MD, receives FRAXA grant for clinical trial of melatonin to help Fragile X syndrome patients sleep.

1998

1998

FRAXA's Scientific Advisory Board Welcomes Nobel Laureate

FRAXA's Scientific Advisory Board welcomes the first of three Nobel Laureates, Dr. James Watson.

1998

1998

Cause of FXTAS Discovered

Paul Hagerman, PhDWhile 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.

1998

1999

First Nobel Laureate Conducts Fragile X Research

Eric KandelEric 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.

1999

1999

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.

1999

1999

Children’s Health Act of 2000 Creates and Funds 3 Research Centers of Excellence

President Clinton celebrating Children's Health ActThe 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.

1999

2000

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.

2000

2000

mGlur Theory of Fragile X Formulated

Mark Bear, PhDWith FRAXA funding, Mark Bear, PhD, and Kim Huber, PhD, formulate the mGluR theory of Fragile X.

2000

2001

FRAXA Funded Researches Identify Specific RNA Targets of FMRP

Robert Darnell, MD, PhD, at Rockefeller University, FRAXA research grantRobert 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.

2001

2002

FRAXA Funds First Clinical Trial of an Investigational New Drug

Elizabeth Berry-Kravis, MD, PhDThe 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.

2002

2005

FRAXA Funds Clinical Trial of the Available Drug Lithium

Elizabeth Berry-Kravis, MD, PhD, Fragile X researcherFRAXA 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. 

2005

2005

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.

2005

2007

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.

2007

2010

New York Times Front Page Reports Success of Novartis Trial

Andy Tranfaglia and his mom, Katie Clapp on the cover of the New York Times. Photo by Bryce Vickmark brycevickmark.comNew 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.

2010

2011

FRAXA Drug Validation Initiative (FRAXA-DVI) Funded

FRAXA-DVI laboratoryFRAXA 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.

2011

2015

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.

2015

2016

First Use of Artificial Intelligence in Fragile X Syndrome

Healx team 2018First 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.

2016

2019

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.

2019

2020

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.

2020

2020

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

2020

2021

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.

2021

2021

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).

2021

2021

FRAXA Passes the $30 Million Mark in Direct Research Funding

FRAXA Research Foundation passes the $30 million mark in direct Fragile X research funding.

2021

2022

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.

2022

2023

Fragile X Banbury Research Meeting Returns

FRAXA Research Meeting at Banbury - Fragile X researchFRAXA Research Foundation hosts special Fragile X Banbury Research meeting to discuss breakthroughs in gene reactivation and gene therapy for Fragile X.

2023

2023

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.

2023