Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

Altered Neural Excitability and Chronic Anxiety in a Mouse Model of Fragile X

With a $35,000 grant from FRAXA Research Foundation in 2016, Dr. Peter Vanderklish at Scripps Research Institute, and colleagues, explored the basis of anxiety in Fragile X syndrome.

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Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

Development of a High-Content Synapse Assay to Screen Therapeutics for Fragile X Syndrome

With a $45,000 grant from FRAXA Research Foundation in 2009, Dr. Mark Bear and Dr. Asha Bhakar used High Content Screening (HCS) to develop an assay sensitive to the effect of the FXS genotype. This project was funded in full by NIH after the first year.

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Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

Clinical Trial of Ganaxolone in Patients with Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation funded during 2014-2015, Dr. Frank Kooy and colleagues at the University of Antwerp are conducting a double blind crossover trial of ganaxolone in patients with Fragile X syndrome. Results of this study were mixed (see Marinus: Results from Phase 2 Exploratory Clinical Study Support Continued Development of Ganaxolone in Fragile X Syndrome.

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Fragile X Clinical Trial on Novartis’s AFQ056 Opens Enrollment

Fragile X Clinical Trial on Novartis’s AFQ056 Opens Enrollment

Elizabeth M. Berry-Kravis, MD, PhD has informed us that Rush University Medical Center in Chicago is enrolling the first patient in the NeuroNext learning trial for children ages 3-6 this week. This is the start of a large-scale Fragile X clinical trial of Novartis AFQ056 (an mGluR5 antagonist) with children.

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FRAXA Fall Event – Sept 16, 2017 – Lagrangeville, NY

FRAXA Fall Event – Sept 16, 2017 – Lagrangeville, NY
15th Annual FRAXA Fall Jeans-for-Genes Join us to find a cure for Fragile X! Saturday, September 16, 2017 • 6:30 pm Crosswinds Equestrian Center 17 Crosswinds Lane LaGrangeville, NY 12540 Buy TicketsDonateFRAXA Fall Event Ron and I are so blessed to be surrounded by kind, generous friends who always seek to help us in our search for a cure for Fragile X Syndrome. This year we are thrilled to host our event in collaboration with Crosswinds Equestrian Center who is donating their facility and Half-Time Beverage who is donating refreshing craft beers. This will allow more money to benefit FRAXA Research Foundation! We know this new venue promises to be filled with family, friends, delicious food, and even a mechanical bull to help create wonderful memories. Jeans and comfortable shoes welcome! Tickets: $125 each Buy TicketsDonate If you have any questions or comments, please contact Amy Watkins at awatkins@fraxa.org.  Fall EventRead more

Patrick’s PALS 21st Annual Basketball Tournament

Patrick’s PALS 21st Annual Basketball Tournament

Play to Find a Cure for Fragile X PAL of the Year: Bob Socci New England Patriots Radio Announcer Special Guest: Bob Ryan Boston Globe Sportswriter Honorary Chair: Scott Shuster Special Friend of Patrick Saturday, June 3, 2017 8:00am – 3:00pm Buckingham Browne & Nichols School, Athletic Center 80 Gerrys Landing Rd Cambridge, MA 02138 PALS is a 3-on-3, 32-team double elimination tournament that raises funds in honor of those affected by Fragile X, including James & Pamela Vershbow’s son Patrick.Your registration fee ($50 per player) will cover breakfast, lunch, refreshments, t-shirt, contests with prizes, trophies and gift certificates for the finalists, and a silent auction. Donations and sponsorships gratefully accepted! Play in PALS XXI either as: A team – maximum of 4 players. A single – you will be assigned to a team short a player or looking for a fourth. For more information contact Jimmy Vershbow at Patricks.Pals@comcast.net.

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Which is the right FMRP for Therapeutic Development of Fragile X Syndrome?

Which is the right FMRP for Therapeutic Development of Fragile X Syndrome?

With a 2-year, $90,000 grant from FRAXA Research Foundation over 2016-17, Dr. Samie Jaffrey at Weill Medical College of Cornell University explored which FMRP isoform is the best target to treat Fragile X syndrome.

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Genes and Gems Fundraiser raises $40,000 for Fragile X Research

Genes and Gems Fundraiser raises $40,000 for Fragile X Research
On April 8, our fabulous friends of FRAXA in Ohio put on another great show as they held their Genes and Gems fundraiser at the St. Charles Preparatory School in Columbus. It was a night to bring together over 300 families, friends and supporters of Fragile X research. The event included an inspiring presentation by the well-loved local Fragile X physician and researcher, Dr. Craig Erickson, from Cincinnati Children’s Hospital. From the great conversations, delicious food, and the silent and live auctions (including a ride on the Goodyear Blimp!), it was clear that everyone had a wonderful time. We want to thank all those who attended Genes and Gems and made generous donations to the FRAXA Research Foundation. A very special thanks to the Planning Committee for their tireless work and commitment to putting on this special event. The Barden Family The Heiman Family The Frederick Family The Lafferty FamilyRead more

TD Bank invites Friends of FRAXA to Watch the Bruins

TD Bank invites Friends of FRAXA to Watch the Bruins

Fifty friends of FRAXA enjoyed an amazing night at the TD Garden in Boston on March 30. They gathered to watch the Boston Bruins take on the Dallas Stars. It was a great opportunity for us to unite the greater Boston Fragile X community. We were able to convene and thank some of our local families and introduce them to university and biotech scientists who are working to find a cure for Fragile X. The night was made available by a generous donation of the Garden View Room by TD Bank.

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Callum Cup 2017 Raised over $9200 for Fragile X Research

We are tremendously grateful to the Millburn United men's soccer team, of Millburn, New Jersey, who held the 2017 Callum Cup on Sunday, July 2, 2017. They were honoring Callum Murphy, son of the team goalkeeper at Millburn United. Together with their friends and families, the team raised over $9000 for Fragile X research! This event was made possibly by co-hosts Andrew Murphy and Nick Dawes. Thank you all! Donors -- Thank you all so much! Kathleen Warnock Sean Mahoney Daniel Losik Martin Leys Alexia Bucciarelli James Padykula Margaret Fox Beth Hopkins James Bayne Eva Lesiak Scott Heiman Brian Levine Vlad Sali Jean-Luc DeguinesRead more

Biomarker Discovery and Validation for Fragile X Syndrome

Biomarker Discovery and Validation for Fragile X Syndrome

With a $60,000 grant from FRAXA Research Foundation in 2015 that was renewed in 2016, Dr. Eric Klann of New York University will research biomarkers in fraile X syndrome and how to translate these markers from mouse models to human patients.

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Function of FMRP and Test of a Novel Therapeutic Approach in a Fragile X Mouse Model

Function of FMRP and Test of a Novel Therapeutic Approach in a Fragile X Mouse Model

With a 2015-2016 $90,000 grant from FRAXA Research Foundation, Dr. Herve Moine and Dr. Andrea Geoffroy aim to uncover the exact role of FMRP and to test a novel possible means to correct for FMRP absence in the mouse model of Fragile X syndrome.

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Correcting Defects in Astrocyte Signaling in Fragile X Syndrome

Correcting Defects in Astrocyte Signaling in Fragile X Syndrome

With a $90,000 grant from the FRAXA Research Foundation from 2015-2016, Dr. Laurie Doering and Dr. Angela Scott at McMasters University studied astrocytes in Fragile X. Astrocytes, brain cells which support neurons, do not transmit signals. Several treatment strategies for Fragile X have been proposed based on correction of “astrocyte phenotypes”.

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Sensory Hypersensibility in Fragile X Syndrome and BK Channel Openers

Sensory Hypersensibility in Fragile X Syndrome and BK Channel Openers

With $366,100 in grants from FRAXA Research Foundation, these investigators at the University of Orleans studied sensory abnormalities in Fragile X mice and test the ability of a class of drugs, BK channel openers, to rescue these abnormalities.

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Fragile X Mutant Mouse Facility

Fragile X Mutant Mouse Facility

With $375,000 in grants from the FRAXA Research Foundation since 2009, Dr. David Nelson has developed an impressive array of advanced mouse models of Fragile X, at Baylor College of Medicine. These models are available to investigators worldwide on request. This resource has been essential for a broad, rapid distribution of Fragile X and related gene mouse models and has increased the pace of Fragile X research.

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MicroRNAs as Biomarkers in Fragile X Syndrome

MicroRNAs as Biomarkers in Fragile X Syndrome

With a $90,000 grant from FRAXA Research Foundation in 2015-2016, Dr. Mollie Meffert and Dr. Christina Timmerman at Johns Hopkins University studied groups of small RNAs, known as microRNAs, which are greatly decreased in brain tissue of Fragile X mice vs. normal controls.

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Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome

Repurposing Drugs to Dampen Hyperactive Nonsense-Mediated Decay in Fragile X Syndrome

With a $90,000 grant from the FRAXA Research Foundation, Dr. Lynne Maquat and Dr. Tatsuaki Kurosaki 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.

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Altered Sleep in Fragile X Syndrome: Basis for a Potential Therapeutic Target

Altered Sleep in Fragile X Syndrome: Basis for a Potential Therapeutic Target

With a $90,000 grant from FRAXA Research Foundation in 2016, Dr. Carolyn B. Smith and Dr. Rache Sare at the National Institute of Mental Health investigated the basis of sleep problems in Fragile X syndrome.

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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