Fragile X Meeting Archives • Fragile X Research

Memorial Tribute to Dr. Stephen T. Warren

FRAXA Research Foundation FRAXA Updates June 8, 2021June 9, 2021Fragile X Meeting, NIH

Dr. Stephen T. Warren passed away on June 6, 2021. In 1991, Dr. Warren discovered the genetic mutation which causes Fragile X Syndrome and named it FRAXA. Donations can be made in his honor to FRAXA Research Foundation.

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

Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery

FRAXA Research Foundation Lovelace, Jonny • Razak, Khaleel • Research Updates • University of California at Riverside February 6, 2020February 7, 2020autism, EEG, FDA, Fragile X Meeting, hypersensitivity, mGluR5, minocycline, NIH, sound

Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.

In Their Own Words: Reports From the International Fragile X Workshop

FRAXA Research Foundation Cogram, Patricia • Contractor, Anis • Events Recap • Kooy, Frank • Lee, Jeannie • McGill University • Moine, Herve • Razak, Khaleel • Research Updates • Smith, Carolyn B. • Sonenberg, Nahum • Todd, Peter • Vanderklish, Peter October 29, 2017December 26, 2019amygdala, autism, bumetanide, DgkK, drug repurposing, drug tolerance, EEG, ERK, FDA, Fragile X Meeting, GABA, ganaxolone, glutamate, hyperexcitability, hypersensitivity, metformin, mGluR5, minocycline, mRNAs, NIH, Rett syndrome, seizure, sleep, sound

The 18th International Fragile X and Related Neurodevelopmental Disorders Workshop in Quebec, Canada, was a great success, featuring Fragile X much more heavily than any previous meeting in this series! We asked our speakers to summarize their work in their own words, with brief updates from researchers investigating Fragile X.

18th International Fragile X and Related Neurodevelopmental Disorders Workshop, Quebec, Canada

Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome

FRAXA Research Foundation 2012 Grants • 2015 Grants • 2016 Grants • 2017 Grants • Biomarkers • Clinical • Corbin, Francois • Has Results • Lepage, Jean-Francois • Research Grant Results • Trials and Studies • University of Sherbrooke, Canada October 3, 2017March 17, 2021Fragile X Meeting, lovastatin, minocycline, MRI, Roche

With a $66,714 grant from the FRAXA Research Foundation awarded over 2015-2017, Dr. Francois Corbin at the Universite of Sherbrooke will test the safety and synergistic effects of lovastatin and minocycline in patients with Fragile X syndrome.

New compound from Anavex Improves Learning and Behavior in Fragile X Mice

FRAXA Research Foundation Research Updates June 6, 2016December 26, 2019Alzheimer's, autism, Fragile X Meeting, Rett syndrome

A potential new treatment for Fragile X syndrome is showing promise. While still early in development, the investigational drug was able to improve intellectual, learning and hyperactivity measures in a mouse model of Fragile X syndrome. Anavex 2-73 is a sigma-1 receptor agonist being developed for autism spectrum disorders, including Rett syndrome and Fragile X syndrome, and for Alzheimer’s disease. Anavex Life Sciences presented the data at the Gordon Research Conference for Fragile X and Autism-Related Disorders, held June 5-10, 2016 in Mount Snow, VT. The study was sponsored by FRAXA, via the FRAXA Drug Validation Initiative, and performed by Fraunhofer Chile Research, in Santiago, Chile.

Fragile X Clinical Trial: Novartis Trial Results Are In, and They’re Not Pretty

Michael Tranfaglia, MD Research Updates • Trials and Studies June 26, 2014December 26, 2019AFQ056, drug tolerance, Fragile X Meeting, mGluR5, minocycline, Novartis, Roche

This year’s Gordon Conference just finished, and Novartis presented their results for the first time (though advisors and advocates had been given a private peak months ago.) To say that the trial results for AFQ056 were disappointing would be the understatement of the century!

Lovastatin Discovery in Fragile X Mice Leads FRAXA to Fund Clinical Trials

FRAXA Research Foundation Bear, Mark • Massachusetts Institute of Technology (MIT) • Osterweil, Emily • Research Updates • Treatment Targets June 11, 2013December 13, 2019ERK, Fragile X Meeting, glutamate, lovastatin, mGluR, minocycline

Dr. Emily Osterweil was awarded the FRAXA Pioneer Award at the opening dinner of the 2011 FRAXA Investigators Meeting in Southbridge, MA for her work demonstrating that Lovastatin could treat Fragile X. Dr. Osterweil conducted her experiments in the MIT laboratory of Dr. Mark Bear and has since established her own laboratory at the University of Edinburgh. The team discovered that lovastatin, a drug widely prescribed for high cholesterol, can correct excess hippocampal protein synthesis in the mouse model of FXS and can prevent epileptogenesis. The work is published in the prestigious neuroscience journal Neuron: Lovastatin Corrects Excess Protein Synthesis and Prevents Epileptogenesis in a Mouse Model of Fragile X Syndrome.

160 scientists and dozens of parents attended the FRAXA Investigators Meeting

FRAXA Research Foundation FRAXA Updates October 31, 2011December 12, 2019Fragile X Meeting

FRAXA Investigators Meeting was held from September 18-21, 2011 in Southbridge, MA. The goal: to find and implement treatments for Fragile X. Congratulations to Drs. Mark Bear, Emily Osterweil, and Elizabeth Berry-Kravis who won FRAXA research awards. The meeting report is here.

FRAXA 2010 Research Awards Funded

FRAXA Research Foundation FRAXA Updates July 11, 2010December 12, 2019Fragile X Meeting

Program Grants and new Postdoctoral Fellowships total over $1.5 million this year. We are very pleased to announce FRAXA 2010 awards. Projects can be viewed at the Research Reports section of this website. These scientists have demonstrated outstanding potential of their FRAXA projects in detailed applications. We aim to help them work toward new treatments for Fragile X. Their projects are at the cutting edge of biomedical technology, and we believe that their work will make a real difference to everyone affected by Fragile X.