FRAXA Updates Archives • Fragile X Research

FRAXA Plans for Fragile X Research: 2019 Funding Opportunities

Michael Tranfaglia, MD FRAXA Updates • Research Updates February 5, 2019February 13, 2019

Each year, FRAXA funds over $1 million in research aimed at finding new and improved treatments — and ultimately a cure — for Fragile X syndrome. The application deadline for FRAXA Fellowships is February 1, and new fellowships are announced in early March. Clinical trial proposals are accepted anytime. Our current priority is clinical trials.

Fragile X Research has More Runners in the Race

Dave Bjork FRAXA Updates January 31, 2019January 31, 2019

We asked for your help to get more runners in the race to find effective treatments and a cure for Fragile X, and you came through for us. Thank you all so much! FRAXA’s 2018 year-end annual appeal raised $733,017 to fund new Fragile X research!

Tetra Announces $40M to Advance BPN14770 for FXS and Alzheimer’s Disease

FRAXA Research Foundation FRAXA Updates • Research Updates December 19, 2018December 19, 2018Alzheimer's, BPN14770, FDA, FRAXA-DVI, PDE4, Tetra Discovery Partners

Tetra Discovery Partners has signed a multi-part deal that could bring it up to $160 million, plus royalties, from Shionogi & Co, Ltd, a Japanese major research-driven pharmaceutical company. Tetra currently is conducting an investigational Phase 2 study of BPN14770 in adults with Fragile X Syndrome, an indication for which BPN14770 has received Orphan Drug Designation from the US Food and Drug Administration. This clinical trial was made possible by early work with the FRAXA-DVI and over $200,000 from FRAXA.

Kathan Pierce Named Patriots Difference Maker of the Week!

FRAXA Research Foundation FRAXA Updates September 28, 2018September 28, 2018Pierce Family Fragile X Foundation

FRAXA Board Member and co-founder of The Pierce Family Fragile X Foundation, Kathan Pierce, has been named this week’s 2018 Patriots Difference Make of the Week! This honor is given by the NFL’s New England Patriots Foundation. According to Chairman and CEO Robert Kraft, “We enjoy shining the light on local volunteers that are committed to improving the lives of children and families across the region and we hope that this inspires our fans to get more involved in their communities.”

Spectrum News – Newly Discovered Aspects of Fragile X Spur Next Wave of Drugs

FRAXA Research Foundation Bassell, Gary • Bear, Mark • FRAXA Updates • Osterweil, Emily • Research Updates • Zhao, Xinyu September 27, 2018October 19, 2018lovastatin, mGluR, mTOR

Many drugs for fragile X syndrome have failed in large clinical trials, but candidates that target new aspects of the condition may fare better.

Retinoic Acid Signaling is Blocked by Fragile X Mutation

FRAXA Research Foundation FRAXA Updates • Research Grant with Results • Research Updates August 10, 2018February 12, 2019CRISPR, Retinoic Acid Signaling

With a 2013-2014 FRAXA Research Grant, Principal Investigator Marius Wernig, PhD and FRAXA Fellow Samuele Marro, PhD at Stanford University found that the Fragile X mutation impairs homeostatic plasticity in human neurons, by blocking synaptic retinoic acid signaling. Retinoic acid is a metabolite of Vitamin A. The system they have developed could provide a powerful new cellular biomarker for screening many treatment approaches.

Ringing the Bell at the New York Stock Exchange for Fragile X Awareness

Dave Bjork Events Recap • FRAXA Updates July 16, 2018July 20, 2018autism

FRAXA Research Foundation was honored to be part of the opening bell ringing ceremony at the New York Stock Exchange (NYSE) on July 5, 2018. We were there to raise awareness for Fragile X along side the National Fragile X Foundation. FRAXA President Katie Clapp and Director of Community Relations Dave Bjork attended with over 30 Fragile X family members and friends, including 4 self-advocates. This was a great opportunity to raise awareness of Fragile X on a big stage at an iconic place. The event was also carried live on television on CNBC, giving FRAXA and Fragile X broad reach around the world.

Impact of the Fragile X Community

Dave Bjork Erickson, Craig • Events Recap • FRAXA Updates • Huber, Kimberly • Richter, Joel • Warren, Stephen February 2, 2018July 9, 2018cancer, hyperexcitability

At FRAXA Research Foundation, we are truly grateful for our Fragile X community and thousands of donors. We couldn’t keep moving the ball forward in research without your support. Each year FRAXA invests over $1 million in Fragile X research thanks to your support. Because we supported these three researchers, we were able to secure another $35 million in research aimed at identifying clinical trial outcome measures that will lead to human trials of promising treatments for those affected by Fragile X.

FRAXA Annual Appeal Raised $760,000

FRAXA Research Foundation FRAXA Updates January 16, 2018June 18, 2018

Thanks to your generous support, we surpassed our annual appeal goal of $600,000 and are one step closer to finding effective treatments and, ultimately, a cure for Fragile X syndrome. From November 6 to December 31, collectively we raised over $760,000 from over 1,000 donors! This means we will also receive the matching gift of $600,000 from the Sunshine Lady Foundation! We’d like to express our sincere gratitude to all of our donors who generously gave to FRAXA Research Foundation in 2017 and look forward to continuing the promising translational Fragile X research momentum in 2018. Our next round of research proposals will be coming in February, and we’re so excited to fund more cutting-edge research. We couldn’t do this without your support. We have an incredible community of families and friends. We are truly grateful for all. We are all in this together.Read more

$17,469 Raised by Friends of FRAXA Volunteers at Bruins Game

FRAXA Research Foundation Events Recap • FRAXA Updates December 5, 2017June 18, 2018Boston Bruins Foundation

Over 50 #FriendsofFRAXA showed up on the the day after Thanksgiving, November 24, at the Bruins game against the Pittsburgh Penguins to sell 50/50 raffle tickets. Our amazing volunteers sold $34,938 in tickets resulting in $17,469 donated to FRAXA research. This was the highest amount the Bruins sold this year in raffle tickets!

Coming Full Circle – Kathy May Returns back to FRAXA

Theodore Coutilish FRAXA Updates November 15, 2017October 15, 2018

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.”

Fragile X Awareness Day Origins and a Tribute

Jeffrey Cohen Community • FRAXA Updates July 22, 2017October 15, 2018autism

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.

FRAXA Wins Award for Drug Repurposing

FRAXA Research Foundation FRAXA Updates • Research Updates June 26, 2017May 3, 2018lithium, metformin, minocycline

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.

Dave Bjork named Director of Development at FRAXA

FRAXA Research Foundation FRAXA Updates February 24, 2017June 18, 2018autism, cancer

FRAXA Research Foundation, which is committed to finding a cure for Fragile X syndrome, the leading known inherited cause of intellectual disabilities and autism, has named Dave Bjork to the newly created position of Director of Development.

FRAXA Announces 3 New Board Members

FRAXA Research Foundation FRAXA Updates June 10, 2016October 15, 2018Pierce Family Fragile X Foundation

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

Employer Matching Gift List

FRAXA Research Foundation FRAXA Updates March 11, 2016June 18, 2018AFQ056, Novartis

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

Boston Bruins Grant Funds New Fragile X Research

FRAXA Research Foundation FRAXA Updates May 28, 2015June 18, 2018autism, Boston Bruins Foundation

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 Grants and Fellowships for Fragile X Research – 2014 Priorities

FRAXA Research Foundation FRAXA Updates • Research Updates November 22, 2013July 23, 2018cancer, lithium, mGluR, mGluR5, minocycline

Funding Priorities for 2014 Grant Cycle We anticipate particularly keen competition for funding in this grant cycle. Challenging economic times inevitably force us back to fundamental principles, and so our overall priorities for 2014 grants will be to bring new, high-quality scientists into the Fragile X field, and to promote translational, preclinical, and clinical research with the greatest chance of improving therapeutics for those living with Fragile X. Here are a few key implications of these policies: We want new ideas! The mGluR Theory is now being tested in the clinic; we do not anticipate funding any major new projects investigating mGluR5 function, although there are many possible spin-off projects which could be the basis for successful applications. Likewise, we do not assign a high priority to studies of every element of mGluR-coupled signaling pathways, unless the topic of study is an especially druggable target. Most components of signaling pathways inRead more

FRAXA’s 2014 Top Goals

FRAXA Research Foundation FRAXA Updates October 24, 2013March 11, 2018AFQ056, autism, FDA, lithium, lovastatin, mGluR5, minocycline, Neuren Pharmaceuticals, Novartis, Roche

Complete Phase II/III Clinical Trials of mGluR5 Antagonists – and learn results Currently two large pharmaceutical companies – Novartis and Roche – are conducting large-scale clinical trials of experimental new medications for Fragile X syndrome which target the mGluR5 pathway. The Novartis trial has finished enrolling adults and adolescents, while a pediatric trial is set to begin soon. The Roche trial is well on the way to completion as well, but is still enrolling some age groups. FRAXA has been working diligently to educate families about these trials in the hopes of getting them completed as quickly as possible. Our goal (of course) is to discover whether these new drugs could be effective treatments for Fragile X, and to see these trials through to marketing of mGluR5 antagonists for Fragile X. Accelerate Clinical Trials of Investigational Treatments, based on research already funded by FRAXA New treatment strategies have emerged and

Makenzie Cote’s Page

FRAXA Research Foundation FRAXA Updates June 13, 2013August 24, 2018

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. In 2012 Makenzie's dad, Dany, and 3Read more

FRAXA Finances – the numbers 2010-2013

FRAXA Research Foundation FRAXA Updates March 11, 2013August 9, 2018autism

FRAXA has funded more than $22 million in research at universities all over the world. But 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! 2012 Income Donations & Grants 1,390,944 (79%) Fundraising 243,881 (14%) Investments 120,183 (07%) Product & Royalties 5,287 (00%) Total: 1,760,294 (100%) Expenses Fundraising 82,254 (04%) Management/General 58,521 (03%) Program – Education 129,150 (07%) Program – Research 1,645,339 (86%) Total Expenses 1,915,265 (100%) Net Income -154,971 2011 Income Donations/Grants 1,109,353 (75%) Fundraising 351,617 (24%) Investments 9,913 (01%) Product & Royalties 5,603 (00%) Total: 1,476,486 (100%) Expenses Fundraising 70,504 (04%) Management/General 57,378 (03%) Program – Education 99,408 (06%) Program – Research 1,583,573 (87%) Total Expenses 1,810,864 (100%) Net Income -334,377 2010 Income Donations/GrantsRead more

Spreading Sunshine

Katie Clapp FRAXA Updates April 11, 2012June 14, 2018autism

There was a time when no one ever heard about Fragile X. The days seemed darker and colder back then. When 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. Her tremendous energy turned contagious, fueling us to do more. 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, a donation which willRead more

FRAXA Announces 2012 Fragile X Research Awards

FRAXA Research Foundation FRAXA Updates April 3, 2012June 18, 2018autism

4/3/2012 2012 Fragile X Research Awards $1,132,923 in New Program Grants, Postdoctoral Fellowships, and Renewals have been approved. We are funding over $846,000 in new projects; renewals total $285,678 and will increase as additional projects reach their one year mark. View report here.Read more

Letter from FRAXA’s Medical Director: State of the Science

Michael Tranfaglia, MD FRAXA Updates November 21, 2011July 5, 2018AFQ056, arbaclofen, autism, baclofen, Fragile X Meeting, lithium, mGluR5, minocycline, Novartis, Roche

On the eve of Thanksgiving, we want to thank everyone who has helped bring us so close to available treatments - and to take stock of where we are. by Michael R. Tranfaglia, MD Medical Director and Fragile X Parent Each year, we’ve described ever greater progress toward our ultimate goal: disease-modifying treatments and an ultimate cure for Fragile X. At times it must seem that this quest will take forever; however, the pace of research has truly moved into high gear in 2011! While FRAXA’s mission to find a cure for Fragile X is simple in concept, it is clearly a daunting task. To address the overwhelming complexity of this challenge, we have developed a plan of attack: • We fund high-quality basic research on the causes of Fragile X, which leads to possible treatment strategies (therapeutic targets). • We fund some of the finest neuroscientists in the worldRead more

160 scientists and dozens of parents attended the FRAXA Investigators Meeting

FRAXA Research Foundation FRAXA Updates October 31, 2011June 18, 2018autism, Fragile X Meeting

10/31/2011 - FRAXA Investigators Meeting held September 18-21, 2011, 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 more

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