Discovering Effective Treatments & A Cure for Fragile X Syndrome
Your support enables FRAXA Research Foundation to fund groundbreaking research and life-changing clinical trials.
FRAXA's Impact to Date
Read our report for an update on Fragile X research and progress towards a cure.
Explore 30 years of outstanding Fragile X research.
$34.8M
Direct Investment in Fragile X Research
32
Teams Actively Researching Fragile X Syndrome
33
Pharmaceutical and Biomedical Partners
641
Fragile X Research Grants Awarded
How Does FRAXA Help?
FRAXA’s mission is to find effective treatments and ultimately a cure for Fragile X syndrome. We directly fund research grants and fellowships at top universities around the world. We partner with biomedical and pharmaceutical companies, large and small, to bridge the gap between research discoveries and actual treatments.
Treatments for Fragile X are likely to help people affected by autism, Alzheimer’s, and other brain disorders.
What is Fragile X Syndrome?
Fragile X syndrome (FXS) is the most common inherited cause of autism and intellectual disabilities. It affects 1 in 4,000 boys and 1 in 8,000 girls worldwide.
Fragile X syndrome occurs when a single gene on the X chromosome shuts down. This gene makes a protein needed for normal brain development. In FXS it does not work properly, the protein is not made, and the brain does not develop as it should.
The Latest from FRAXA
Molecular mechanisms: Enzyme blockers help Fragile X mice
Dr. Jope won the 2013 FRAXA Pioneer Award for this work. The mood stabilizer lithium and two other drugs that block an enzyme called GSK-3 reverse cognitive deficits in a mouse model of Fragile X.
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This Is My Brother, speech by Elizabeth Clark at FRAXA’s Fall X Ball
In a heartfelt, humorous and insightful speech, Elizabeth Higgins Clark imparts the inspiration and love she has received from her brother, David, who has Fragile X Syndrome. Fragile X is the most common form of genetically transferred intellectual disability. Clark gave the following speech in Danbury, Connecticut at the 11th Annual Fall X Ball benefitting the FRAXA Research Foundation.
Read More »Fragile X Syndrome Protein Linked to Breast Cancer Progression
Claudia Bagni (VIB/KU Leuven, Belgium, and the University of Rome, Italy) and colleagues have identified the way Fragile X Mental Retardation Protein or FMRP contributes to the progression of breast cancer. The researchers demonstrated that FMRP acts as a master switch controlling the levels of several proteins involved in different stages of aggressive breast cancer, including the invasion of cancer cells into blood vessels and the spread of these cancer cells to other tissues forming metastasis.
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Social Behavior as an Outcome Measure for Fragile X Clinical Trials
One of the features of the Fragile X mouse model which is relevant to the human Fragile X syndrome (and autism) is social behavior. Several tests show consistent social behavioral abnormalities in the Fragile X mouse model. With a $140,000 grant from FRAXA Research Foundation in 2012-2013, Dr. Willemsen at Erasmus University used social behavior tests to measure the effectiveness of several drug strategies.
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Translation-Independent Functions of FMRP in Excitability, Synaptic Transmission and Plasticity
With a $140,000 grant from FRAXA Research Foundation, Dr. Vitaly Klyachko and team at Washington University explored STP (short-term plasticity) in Fragile X, namely looking at presynaptic calcium dynamics as a major underlying cause of the STP defects.
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Glycogen Synthase Kinase-3 (GSK3), Lithium and Fragile X
With $208,000 in funds from FRAXA Research Foundation, Dr. Richard Jope and his team at the University of Miami tested whether newly developed, highly specific inhibitors of GSK3 can reduce behavioral abnormalities in Fragile X mice.
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