Welcome to the 4th Annual Cornhole Tournament to benefit FRAXA Saturday, June 4, 2016, at 9am Ballenger Creek Park Frederick, MD Sponsor/Donate/Play $30 per person or $60 per team ~ donations gratefully accepted. Contact: Dan Grove at firstname.lastname@example.org or Click for more information Back to Calendar
Matching Gift Companies YOU CAN MAKE YOUR GIFT WORTH EVEN MORE! Many 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. Some companies will match gifts made by retirees and/or spouses. For companies that require FRAXA’s full legal name, it is FRAXA Research Foundation, Inc. THE IMPACT OF YOUR GIFT MAY BE DOUBLED OR EVEN TRIPLED! A Abbott Laboratories Acadian Asset Management Inc. Adage Capital Management Adobe Systems Inc. ADP AEP Aetna Inc. Aetna Life and Casualty Foundation The Air Products Foundation Allegro Microsystems Inc. Allstate Foundation Altria Group Inc. Anheuser Busch AMD American Electric Power American Express American Fidelity Corp. American International Group Inc. Ameritech Amgen
With a $110,050 grant from FRAXA Research Foundation from 2005-2016, Dr. Sumantra Chattarji at the National Center for Biological Sciences researched how the amygdala is affected by Fragile X syndrome. Results published.
2016 Funding Priorities Start with Clinical Trials While FRAXA Research Foundation’s research goals remain largely unchanged, the landscape in which we operate has changed significantly in the past few years. Negative results from the major clinical trials of investigational agents have resulted in cessation of development of mGluR5 antagonists for Fragile X syndrome. There is still much evidence that this drug class could be successful as a Fragile X therapeutic, but we do not see the need for more “proof of principle”-type preclinical research on mGluR5 antagonists. Studies of possible mechanisms of tolerance in Fragile X would be appealing as a topic going forward, as would studies of circuit function in Fragile X, since available evidence suggests some form of circuit-based (rather than synaptic) tolerance in Fragile X mice and humans. Other potential areas of interest would include exploration of combination treatment strategies, both in animal models and in clinicalRead more
FRAXA Research Foundation is fortunate to attract volunteers and interns from universities far and wide. FRAXA has just four staff on the payroll (three of whom are part time), to keep expenses low and devote your donations to Fragile X research. That also means we are very grateful to our volunteers! This past summer we were joined at the FRAXA Newburyport, MA office by Emily Fluet, a student who had completed her freshman year at the University of St. Andrews in Scotland. Emily has transformed two FRAXA publications into online resources available to all: Fragile X – A to Z and Medication Guide for Fragile X. My summer at FRAXA Research Foundation by Emily Fluet 9/1/2015 Many of my friends went on gap years last year, and hearing about their volunteering and service really inspired me: I wanted to do something to help out others as well. So I started researching nonprofits and was drawn to
One of the outcome measures - the new Fragile X Syndrome Rating Scale - showing positive results. Blue: placebo; Yellow: low-dose trofinetide; Green: high-dose trofinetide We are pleased to share great news adapted from Neuren’s press release: Neuren’s phase 2 trial has successfully established proof of concept and provides a strong rationale for Neuren to move forward with developing trofinetide for Fragile X syndrome. In this initial small trial with a relatively short treatment period, trofinetide was very well tolerated, with the high dose (70 mg/kg twice daily) demonstrating a consistent pattern of clinical improvement, observed in both clinician and caregiver assessments. After only 28 days of treatment, improvements were seen across core symptoms of Fragile X syndrome, including higher sensory tolerance, reduced anxiety, better self-regulation and more social engagement. No serious adverse events were reported. Positive Results in Fragile X Syndrome and Rett Syndrome Beneficial effects of trofinetide have now been observed in both FragileRead more
With a $100,000 grant from the FRAXA Research Foundation in 2015, Dr. Peter Vanderklish explored a novel strategy to treat Fragile X syndrome: AMPK activators. The good news is that there are FDA approved (for example, metformin) and naturally occurring AMPK activators (such as resveratrol, found in red wine).
Dr. Jongens and his collaborators have found an insulin-like protein in the fly brain that is overexpressed in the Fragile X mutant fly, leading to increased activity of the insulin signaling pathway. Furthermore, they found that certain behavioral patterns in the Fragile X flies can be rescued by expressing the FX gene just in insulin producing neurons in the fly brain. In the mutant, there are other changes in the signaling pathways, including a decrease in cAMP and elevation in PI3K, mTOR, Akt and ERK activity. They now propose to study 2 medicines used for diabetes: pioglitazone (increases cAMP and decreases Akt and ERK) and metformin (inhibits mTOR), in flies and mice to validate the potential efficacy of these novel therapeutics for Fragile X.
FRAXA Research Foundation is proud to make a grant of $90,000 over 2014-2015 to Margaret King, PhD. The goal of this project is to identify new approaches to clinical trial design for Fragile X pharmaceuticals.
Claudia Bagni, PhD, an author of the new study published in Neuron and a previous recipient of a FRAXA research grant Researchers Investigate Treatment Targets Which May Address Both Fragile X Syndrome and Alzheimer’s Disease Last week researchers at VIB Leuven in Belgium published evidence that a brain pathway involving the protein APP (Amyloid Precursor Protein) plays a vital role in development of Fragile X syndrome, one of the most common causes of autism. Scientists led by Dr. Emanuela Pasciuto in the laboratory of Prof Claudia Bagni published findings of their study in the journal Neuron. The team identified the molecular mechanisms behind the elevated levels and metabolism of APP protein in a mouse model. This dysregulation affects brain development and behavior, at a stage where the infant’s neuronal connections i.e. synapses are being formed and remodeled. Using a newly developed agent the team was able to reduce the cellular dysfunctionRead more
Boston Bruins Foundation’s $90,000 commitment to FRAXA 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. #NHLBruins A photo posted by Boston Bruins (@nhlbruins) on May 28, 2015 at 10:29am PDT The new fellowship to be funded by this award goes to Drs. Lynne Maquat and Tatsuaki Kurosaki of the University of Rochester. They will investigate nonsense-mediated mRNA decay (NMD) in Fragile X. NMD is a “housekeeping” process that cells use to prevent faulty proteins from being made. But there is too much of it in Fragile X syndrome. There are already available drugs that suppress NMD – including caffeine -- and so If this projectRead more
2015 Program Grant funded for $100,000 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. AMPK normally mediates mTORC1 suppression, but AMPK appears to be decreased in Fragile X. Metformin, an FDA-approved drug, is widely used as a first-line therapy for type 2, and is a well known activator of AMPK. It controls gene expression at the level of mRNA translation, comparable to the mTORC1 inhibitor rapamycin. This project will explore the potential of metformin and related compounds to rescue known abnormalities in Fragile
Just as the Amazon rainforest may hold a cure for cancer if only scientists can find it, a bizarre marine critter found off the California coast — Bugula neritina— is the only known source of a potential new Fragile X treatment, Bryostatin. Last month, FRAXA sat down with scientists from Neurotrope BioScience, a specialty biopharmaceutical company developing medicines for rare diseases and Alzheimer’s based on Bryostatin. Their Fragile X program is based on research by a West Virginia team led by Daniel Alkon, MD, which showed that Bryostatin-1 restores hippocampal synapses and spatial learning and memory in adult Fragile X mice. “Our results show that synaptic and cognitive function of adult FXS mice can be normalized through pharmacologic treatment and that bryostatin-1-like agents may represent a novel class of drugs to treat Fragile X mental retardation even after postpartum brain development has largely completed,” remarked Dr. Alkon. Bugula and Bryostatins Often mistaken for seaweed, bugula is actually colonies of small animals, likeRead more
CANDO Team, left to right: Mary Beth Kadlec, Program Director, Occupational Therapist; David Cochran, Assistant Medical Director,Child Psychiatrist; Jean Frazier, Medical Director, Child Psychiatrist; Susan Swanson, Speech and Language Pathologist. (Not pictured: Van Silka, Adult Psychiatrist; Mary Crane, Board Certified Behavior Analyst;and Kelly Hurley, Autism Resource Specialist). Fragile X Programs aimed at improving the lives of individuals with Fragile X Syndrome at UMASS Medical School (UMMS) and UMASS Memorial Health Care (UMMHC) 1. Fragile X Syndrome Behavioral Health Clinic The Center for Autism and Neurodevelopmental Disorders (CANDO) is opening a specialty clinic for individuals with Fragile X Syndrome (under the direction of Dr. Jean Frazier) to evaluate and provide treatment for behavioral challenges. If you have questions about our program and/or have a need for our new clinical service, please call CANDO at 774-442-2263. 2. Expanded Fragile X Clinical Research The Child and Adolescent Neurodevelopment Initiative (CANDI, with Co-Directors Drs. Frazier and Kennedy) has two active studies aimed at expanding our knowledge about how toRead more
With a $349,000 grant from FRAXA Research Foundation from 2008-2015, Dr. Paul Lombroso and his team at Yale University researched if inhibiting STEP could reduce behavioral abnormalities in Fragile X syndrome. Results published.
“Well, I have Fragile X” Simon is weird and wonderful. He’s friendly and curious and talks non-stop. He’s an athlete and an artist. He’s unbelievably generous and crazy stubborn. He often repeats sentences. When his mom reprimands him for something, he’ll say, “Well I have Fragile X.” His next sentence is often, “I want to get rid of it.” Sometimes he says, “It’s your fault.” What Simon needs most in the world is cable TV, the Internet, and food his mother disapproves of. He loves his room: dark and private and equipped with many screens. He loves babies and pretty girls. He is obsessed with Danica Patrick (but that’s supposed to be a secret). He would like to drive but understands that he needs to learn to read first. “That’s too hard,” he says. What he needs most in the world is love and acceptance: from his family, his friends,Read more
Undergraduate students at Worcester Polytechnic Institute (WPI) complete what is known as the Interactive Qualifying Project (IQP). Student groups work closely with local or national sponsors during their junior year to complete a project that benefits their community. Two student groups from WPI are working with FRAXA to provide research-based improvements to the FRAXA.org website, and to develop a mobile FRAXA app. Biomedical Engineering major Krisha Nazareth and Computer Science major Christopher Gillis are working on the app development team (Team App). Team App is working to create a mobile app which will use GPS services on smart phones to inform users of nearby clinical trials, resources and events. The app will also host a discussion board for members of the Fragile X community. Biology and Biotechnology majors Rachel Prescott and Collette Bora and Mechanical Engineering major Heather Lavoie are performing research to make strategic improvements to the FRAXA.org website (TeamRead more
The National Institutes of Health has just announced new awards of $35 million over five years to support three Centers for Collaborative Research in Fragile X. Investigators at these centers will seek to better understand Fragile X-associated disorders and work toward developing effective treatments. All of these scientists have been funded for years by FRAXA Research Foundation, and now each team will receive over $2 million per year for five years! Kimberly M. Huber, Ph.D., University of Texas Southwestern Medical Center, Dallas (Grant number 1U54 HD082008-01) Many people with Fragile X syndrome are sensitive to sensory stimuli, especially noise. Dr. Huber’s team, along with Khaleel Razak, Ph.D., Iryna Ethell, Ph.D., and Devin Binder, Ph.D. of University of CA at Riverside, will study brain circuits in mouse models and people to try to determine the causes of heightened sensitivity to sound. This information may lead to more targeted therapies. Dr. HuberRead more
With a $90,000 grant from the FRAXA Research Foundation from 2013-2014, Dr. Andres Ozaita led a team to test rimonabant’s ability to blockade the CB1 receptor. Blocking CB1 has shown potential to reverse most symptoms of disease in mice bred to mimic Fragile X syndrome.
With a $124,000 grant from the FRAXA Research Foundation from 2012-2014, Dr. Mara Dierssen and Dr. Rafael de la Torre conducted preclinical studies in Fragile X knockout mice and a clinical trial in Fragile X patients using Mega Green Tea Extract, which contains 45% by weight epigallocatechin gallate (EGCG).
Studies have shown that the function of inhibitory networks is disturbed in Fragile X. This abnormality is not well understood but appears to be secondary to abnormalities in metabotropic glutamate and endocannabinoid systems. With a $90,000 grant from FRAXA in 2013-2014, Dr. Molly Huntsman’s team examined how these networks interact and how inhibitory deficits can best be remedied.
With a $180,000 grant from the FRAXA Research Foundation over 2011-2014, Dr. Yue Feng and Dr. Wenqi Li at Emory University will study CDK5 pathway function and regulation in an effort to break down whether and how CDK5 signaling is affected by the loss of the Fragile X protein, FMRP, in the Fragile X mouse model.
Computer modeling of the brain offers the hope of predicting how the brain responds to varying conditions, but these models have been rather primitive until recently. The Sejnowski team at the Salk Institute, who specialize in computational models of neural networks, will take the results of previous FRAXA-funded projects and incorporate them into their advanced computer models of brain function.
With a $90,000 grant from FRAXA Research Foundation over 2013-14, Dr. Marius Wernig and Dr. Samuele Marro at Stanford analyzed homeostatic plasticity and regulation of synaptic strength by retinoic acid. If the results are encouraging, they will move forward with testing whether available RA antagonists can alleviate observed abnormalities in these cells.
Scientists have found increases in the numbers of neurons in brain regions of autistic children, suggesting a problem in developmental programmed cell death pathways. One of the most important effectors of neuronal survival during brain development is the “anti-cell death” protein Bcl-xL. While the normal function of Bcl-xL is to maintain a healthy number of neurons and synapses, over-expressed Bcl-xL can cause an overabundance of synaptic connections. This may be happening in Fragile X.