Finding a Cure for Fragile X
Co-Founder Kathy May returns after two decades to write grants. It’s about discovering new forms of treatments to enhance the mental, emotional and social growth of those affected by Fragile X. “And there will be a cure,” she said. “FRAXA is the reason for this hope. I have come full circle to FRAXA and feeling more hopeful than I have in many years.”
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July 22 is National Fragile X Awareness Day, but I’ll bet few know the history behind it.
In 2000, before there was such a thing as a Fragile X Advocacy Day, FRAXA Research Foundation and David Busby (husband to Mary Beth, father to two adult sons living with Fragile X, a member of FRAXA’s pioneering leadership team, and a prominent and politically well-connected DC lawyer) were running Fragile X advocacy in Washington, DC.
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Cures Within Reach, the leading global nonprofit focused on repurposing research as a fast track to saving patient lives, has awarded FRAXA Research Foundation the 2017 Golan Christie Taglia Patient Impact Philanthropy Award for efforts to find treatments for the rare disease Fragile X syndrome.
Read moreMany companies sponsor matching gift programs and will match your gift to FRAXA. To find out if your company has a matching gift policy, check the list below or contact your company’s HR office. If your company is eligible, request a matching gift form and send it completed and signed with your contribution.
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Bruins Foundation Executive Director Bob Sweeney pledging a $90,000 donation to FRAXA Research today at Shared Living Collaborative’s Gateway Farm in Merrimac, MA. The award will enable the organization to fund an entirely new research project aimed at developing new treatments for Fragile X, a genetic syndrome that is the most common inherited cause of autism.
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Mis-regulation of activity-dependent protein synthesis is one of the major cellular abnormalities found in Fragile X. Upstream neuronal signaling regulates a large cluster of enzymes called the mTORC1 complex, which in turn regulates protein synthesis. This complex is also controlled by cellular energy levels via the metabolic sensor AMP-activated Protein Kinase (AMPK). AMPK is a highly conserved kinase that is activated under conditions of energy stress, when intracellular ATP levels decline and intracellular AMP increases.
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FRAXA awarded $180,000 to Yue Feng, PhD of Emory University School of Medicine with Wenqi Li, PhD, Postdoctoral Fellow. Decades of investigation established the role of FMRP in binding its mRNA targets and regulating translation in response to neuronal and synaptic activity changes. Exciting discoveries on two receptors, mGluR5 and GABA, signaling in FXS animal models have led to promising therapeutic approaches based on variation of synaptic activity by mGluR5 antagonists and GABA agonists. However, clinical trials only achieved partial reverse of FXS phenotype. Thus, developing additional therapeutic strategies for treating the full spectrum of FXS symptoms are still pressing challenges.
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Makenzie is our lovely angel. Life is surely challenging for her and for us as parents raising a child with special needs. She has some developmental delays with a high level of anxiety. She loves going to school every day and she plays many sports like her peers in a league for children with disabilities. We are truly hoping for a cure to increase her quality of life like all the children deserve on this earth. We want her to be happy and proud of herself as much that we are of her. In 2008, our family in Canada started a fundraiser to raise money for the Fragile X research. They started making all kind of crafts and selling them. All the profits are sent to FRAXA in honor of our daughter who was diagnosed at 16 months old with Fragile X syndrome.
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FRAXA Research Foundation awards $21,000 in 2013 to Dr. Schaeffer to analyze an investigational new compound that targets the GABA-A receptor. This study has led to a clinical trial of the compound, led by Dr. Craig Erickson at Cincinnati Children’s Hospital. Of the many genes known to be regulated by FMRP, the gamma-aminobutyric acid receptor A (GABA(A)), is gaining attention as a potential target for the treatment of FXS. Mounting evidence suggests decreased expression and functioning of GABA(A) is involved in the pathophysiology of FXS.
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FRAXA Awards $50,000 in 2011 and $50,000 in 2010 to Patricia Cogram, PhD for treatment of Fragile X syndrome via Dopamine Enhancers and Glutamate Inhibitors. This project aims to follow up our and others observations that the dopamine receptor is under expressed in the Fragile X syndrome and thus determine the effectiveness of targeted pharmacological treatments in Fragile X syndrome.
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FRAXA has funded more than $22 million in research at universities all over the world. However, fundraising has been challenging over the past few years. But the driving force behind FRAXA is parents who are determined to help their children. We’ve kept overhead expenses very low in order to devote as many dollars as possible to Fragile X research.
Read moreWhen a woman named Doris Buffett decided to embrace us, her warmth spread over us like a blanket, and the impact of her presence was immediate. As mothers and fathers of Fragile X children, we felt encouraged by the light Doris cast our way. We felt honored that the Sunshine Lady and her Foundation directors chose to invest in our children and our future. We were reinvigorated because of her generous financial support and her profound vision. Doris called FRAXA “The Gold Standard” in grass roots charities and donated more than $3 million to FRAXA in challenge grants. With our deepest gratitude, we are once again thanking Doris Buffett’s Sunshine Lady Foundation for her latest gift.
Read moreIn 2012, Fragile X Research was awarded $1,132,923 in new program grants, postdoctoral fellowships, and renewals. We are funding over $846,000 in new projects; renewals totalling $285,678 and will increase as additional projects reach their one year mark. View report here.
Read moreFRAXA 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.
Read moreIn 2011, FRAXA awarded $1,054,286 in Fragile X Research. Each year FRAXA holds a competition to find – and fund – the most promising new projects aimed at discovering targeted, effective treatments – and ultimately a cure – for Fragile X and related autism spectrum disorders. Each team has a page on this website with details. Our competitive grant-making process ensures that the best and most innovative research gets supported, that new scientists join the Fragile X field, and most important – that we get closer to a cure. FRAXA aims to advance the kind of translational research that is most likely to lead to improved treatment.
Read moreProgram 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.
Read moreOver 150 scientists from around the globe gathered in Durham, New Hampshire, for FRAXA Research Foundation’s Investigators Meeting on September 21-24, 2008. They came from Australia, Canada, India, Turkey, the U.S., and eight European countries. Their common goal: “to share, collaborate and publish,” in the words of FRAXA’s Medical Director, Michael Tranfaglia, MD, to find effective treatments and a cure for Fragile X, the foremost inherited cause of mental retardation and autism. Most of the attendees were university-based professors, postdoctoral fellows, and graduate students who have FRAXA research grants. Also participating in the meeting were scientists from the National Institutes of Health (NIMH, NICHD, and NINDS), Neuropharm Group PLC, Hoffman LaRoche Inc., GlaxoSmithKline, Indevus, and Seaside Therapeutics, as well as 20 parents of Fragile X children.
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In the Spring of 2007, Doris Buffett, president of the Sunshine Lady Foundation, challenged FRAXA to raise $500,000 in new funds by November 1 which she’d match. The grand total of new donations received was $1,424,562, with an additional $98,755 in pledges payable by March 1st, for a total of $1,523,317! Together with Ms. Buffett’s initial $500,000 gift, FRAXA received over $3.5 million in new money — all for research aimed at curing or treating Fragile X. Thanks so very much to all of you who helped make this happen. More than 2600 people donated toward the Challenge – it is a true grass-roots community success.
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On short notice, Katie Clapp and Mary Beth and David Busby hurried to attend the January 4th White House ceremony celebrating the bipartisan enactment of the Children’s Health Act of 2000, which boosts federal funding of research on children’s diseases, including Fragile X. This was a rare, unforgettable opportunity to meet both (now, former) President and Senator Clinton in “The Blue Room,” along with several members of Congress.
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