Rolling Stone Magazine: Luke’s Best Chance: One Man’s Fight for His Autistic Son

Rolling Stone Magazine: Luke’s Best Chance: One Man’s Fight for His Autistic Son
Rolling Stone Magazine published a powerful article by award-winning writer, Paul Solotaroff, featuring his son, Luke. Luke is 17 years old and has Fragile X syndrome. What will happen when Luke becomes an adult and no longer has a right to schooling? During his research, Paul visited the Shared Living Collaborative in Merrimac, MA. This is the program where my son, Andy, age 28, works (and plays) during his days.  Perhaps it can serve as a model for other programs around the country. Read the article here: http://www.rollingstone.com/culture/features/lukes-best-chance-one-mans-fight-for-his-autistic-son-w431012 Read about Shared Living Collaborative here: https://www.fraxa.org/turning-22-fragile-x-adults/Read more

Fulcrum Therapeutics Launched with $55 Million to Reactivate the Fragile X Gene

Fulcrum Therapeutics Launched with $55 Million to Reactivate the Fragile X Gene
A new company has launched that will invest tens of millions in reactivating the Fragile X gene. With $55 million in investment funds, Fulcrum Therapeutics in Cambridge, MA, aim to develop small molecules to control gene expression. These potential new treatments would be based on controlling genetic on- and off-switches of disease genes. Fulcrum will start with two diseases: Fragile X syndrome and a rare form of muscular dystrophy. FRAXA is funding one of the founding scientists, Jeannie Lee, MD, PhD, of Harvard University, and has been working with others on the new Fulcrum team. In fact, Dr. Lee will be our speaker at the FRAXA Fall Fling fundraiser this September 30, in Cambridge, Mass. Together, with your support and with support from new companies like Fulcrum, with support from FRAXA’s Nobel Laureate-laden Scientific Advisory Board and passionate Board of Directors, we are united more than ever in finding a cure for Fragile X. More About Fulcrum http://www.fiercebiotech.com/biotech/third-rock-launches-gene-regulation-startup-55mRead more

FRAXA Announces 3 New Board Members

FRAXA Announces 3 New Board Members
FRAXA, the world’s leading organization fully committed to finding a cure for Fragile X syndrome, has announced Theodore G. Coutilish, Kathan Pierce, and Jessica Haugan have joined its Board of Directors. Kathan Pierce Kathan Pierce most recently held senior finance positions at Liberty Mutual Insurance and Fidelity Investments. She and her husband, Michael, live in Medford, Mass., with their two sons, Graham and Reid, who were diagnosed in 2015 and 2016 with FXS. She holds a BS in Business Administration from Villanova University and an MBA and Master of Science in Accounting from Boston College. She is co-founder of The Pierce Family Fragile X Foundation, a nonprofit whose mission is to raise funds to help find a cure for Fragile X and raise awareness. Jessica Haugen Jessica Haugen of Thompson, N.D., has served the youth of North Dakota for the past 11 years at Ruth Meiers Adolescent Center, a residential treatment center that focusesRead more

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

New compound from Anavex Improves Learning and Behavior in Fragile X Mice
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. “The ANAVEX 2-73 data in an array of behavioral paradigms in a validated mouse model of Fragile X is very encouraging. The results are promising for both Fragile X syndrome and Autism Spectrum Disorders, since there is an overlap in the clinical as well asRead more

Fragile X Fruit Fly Research Bears Fruit

Fragile X Fruit Fly Research Bears Fruit
Sean McBride, MD, PhD, and Thomas Jongens, PhD, of the University of Pennsylvania Adapted from press release by University of Pennsylvania A new FRAXA-funded study shows how the hormone insulin – usually associated with diabetes — is involved in the daily activity patterns and learning deficits in the fruit fly model of Fragile X Syndrome (FXS). The study also reveal a metabolic pathway that can be targeted by new and already approved drugs to treat Fragile X patients, notably metformin. The scientists study the common fruitfly, Drosophila, whose genome contains a cousin, or homologue, of the human FMR1 gene called dfmr1. The lab of Thomas Jongens, PhD, an associate professor of Genetics, along with doctoral student Rachel Monyak and Sean McBride, MD, PhD, a psychiatrist at the Adult Developmental Disorders and Monogenic Disorders Clinic with Penn Behavioral Health, have been working with the fly model to find new therapies to treat the behavioralRead more

Employer Matching Gift List

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

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Abnormalities of Synaptic Plasticity in the Fragile X Amygdala

Abnormalities of Synaptic Plasticity in the Fragile X Amygdala

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.

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FRAXA Grants and Fellowships for Fragile X Research – 2016 Funding Priorities

FRAXA Grants and Fellowships for Fragile X Research – 2016 Funding Priorities
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

Resources for Families: Fragile X – A to Z and Medication Guide

Resources for Families: Fragile X – A to Z and Medication Guide

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

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Neuren’s Tofinetide Successful in Phase 2 Clinical Trial in Fragile X

Neuren’s Tofinetide Successful in Phase 2 Clinical Trial in Fragile X
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

Targeting AMP-Activated Protein Kinase Pathway in Fragile X Syndrome

Targeting AMP-Activated Protein Kinase Pathway in Fragile X Syndrome

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).

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Fruit Flies to Model and Test Fragile X Treatments

Fruit Flies to Model and Test Fragile X Treatments

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.

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Analysis of Developmental Brain Dysfunction in Families

Analysis of Developmental Brain Dysfunction in Families

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.

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Crossroads of Fragile X and Alzheimers Research

Crossroads of Fragile X and Alzheimers Research
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 Grant Funds New Fragile X Research

Boston Bruins Grant Funds New Fragile X Research
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

FRAXA Grant to Nahum Sonenberg, PhD — Effects of metformin in Fmr1 knockout mouse model of Fragile X syndrome

FRAXA Grant to Nahum Sonenberg, PhD — Effects of metformin in Fmr1 knockout mouse model of Fragile X syndrome

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

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Bryostatin Restores Learning and Memory in Adult Fragile X Mice

Bryostatin Restores Learning and Memory in Adult Fragile X Mice
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

Fragile X Programs at UMASS – University of MA, Worcester

Fragile X Programs at UMASS – University of MA, Worcester
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

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

Inhibitors of STEP as a Novel Treatment of Fragile X Syndrome

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.

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Simon is Weird and Wonderful

Simon is Weird and Wonderful
“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

Students at WPI helping FRAXA Research Foundation

Students at WPI helping FRAXA Research Foundation
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

NIH Awards $35 Million to Three Fragile X Research Teams

NIH Awards $35 Million to Three Fragile X Research Teams
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

Targeting the Endocannabinoid System in Adult Fragile X Mice

Targeting the Endocannabinoid System in Adult Fragile X Mice

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.

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Studies of Mega Green Tea Extract to Treat Fragile X Syndrome

Studies of Mega Green Tea Extract to Treat 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).

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