News & Updates • Fragile X Research - FRAXA Research Foundation

Auditory Dysfunction in Fragile X Syndrome in a Mouse Model of Fragile X

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Disease Mechanisms • Has Results • Klug, Achim • McCullagh, Elizabeth • University of Colorado January 28, 2020January 28, 2020autism, hypersensitivity, neural network, prepulse inhibition, prepulse inhibition, sound, startle

With a $90,000 grant from FRAXA, Dr. McCullagh and Dr. Achem Klug at the University of Colorado investigated whether auditory neural circuits are altered in Fragile X mice. They saw minor differences in these mice compared to B6 (control) mice in several measures of auditory acuity. Fmr1 mice had increased latency to the startle response for almost all conditions compared to B6 mice, suggesting altered timing to acoustic cues. These experiments show that, consistent with patient reports and anatomical/physiological data, the auditory system is altered in a mouse model of FXS, though with some potential compensation leading to a subtle behavioral impact.

NIH Invites Applications for Fragile X Research Centers, Including Funding for Clinical Trials

FRAXA Research Foundation Advocacy • Research Updates January 23, 2020NIH

We are pleased to report that the National Institutes of Health (NIH) has published a Funding Opportunity, inviting applications for Centers for Collaborative Research in Fragile X and FMR1-Associated Conditions.

Meet Will!

FRAXA Research Foundation #FriendofFRAXA January 15, 2020

Meet #FriendofFRAXA Will! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Thankful is an Understatement

FRAXA Research Foundation FRAXA Updates January 7, 2020January 8, 2020

To say we are thankful would be an understatement. Before 2019 came to a close, FRAXA Research Foundation set an ambitious goal of $750,000 to raise by the start of the New Year. We knew that it would require all hands on deck, and we knew that those of you who believe in our mission would rise to the occasion. The turnout we received was beyond what we could have hoped for.

31 Nights of Light with FRAXA Research Foundation

Elle Skala Events Recap December 23, 2019December 27, 2019

Each year the Boston Prudential Center hosts a 31 Nights of Light event throughout the month of December. Each night, a different charity is selected and invited to the Center to raise awareness for their cause. This year, FRAXA Research Foundation was selected as one of the charities!

Boston Bruins Fans and Volunteers raise $18,500 for Fragile X Research

FRAXA Research Foundation Events Recap December 18, 2019Boston Bruins Foundation

For the 5th year in row, the Bruins Foundation chose FRAXA as a beneficiary of their 50/50 raffle to benefit a lucky charity. This year’s game was held on November 23, 2019 against the Minnesota Wild. Not only were the Bruins able to take home a win, but FRAXA received half of a whopping $37,000 raised that night!

Meet Caleb!

FRAXA Research Foundation #FriendofFRAXA December 17, 2019

Meet #FriendofFRAXA Caleb! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Jim Cantore Assists on an Absolutely Successful #GivingTuesday

FRAXA Research Foundation Events Recap • FRAXA Updates December 16, 2019December 16, 2019

With the help of our resilient supporters and the gifts of over 130 amazing donors, FRAXA Research Foundation raised $50,500 on #GivingTuesday. With a matching gift of $45,000 we were able to raise a total $95,500 to advance Fragile X research, funding two year-long research grants!

New Partners Aim to Accelerate the Discovery and Repurposing of Medicines for Rare Neurological Diseases

Fragile X News Today FRAXA Updates December 13, 2019Healx

First Healx secured $56M in new financing to launch a global Rare Treatment Accelerator program to tackle Fragile X syndrome and 39 other rare diseases. Now they have built a partnership with Boehringer Ingelheim worth millions. It all started with a small FRAXA grant to Healx to repurpose available drugs for Fragile X.

Meet Jed & Kit!

FRAXA Research Foundation #FriendofFRAXA December 12, 2019December 12, 2019

Meet #FriendofFRAXA Jed & Kit! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Genes & Gems Raises $56,000 for Fragile X Research!

FRAXA Research Foundation Events Recap December 10, 2019December 10, 2019

On November 16, 2019, our amazing Ohio families held an unforgettable Genes & Gems event to support FRAXA Research Foundation. This year, at the Renaissance Columbus Hotel, families and friends gathered to support Fragile X research. The evening included presentation Dr. Craig Erickson from Cincinnati Children’s Hospital.

Three More Participants Needed for Fragile X Clinical Trial

FRAXA Research Foundation FRAXA Updates • Recruiting • Research Updates December 5, 2019January 24, 2020EEG, PDE4, Tetra Therapeutics

A Fragile X clinical trial of a new PDE4D allosteric inhibitor from Tetra Therapeutics is nearly complete. Right now there are 3 remaining spots open to males 18-45 years of age with Fragile X syndrome. Dr. Elizabeth Berry-Kravis at the Rush University Medical Center in Chicago is leading this trial. The drug being studied has a unique mechanism of action that might improve cognitive and memory function.

Meet Jack!

FRAXA Research Foundation #FriendofFRAXA November 21, 2019November 21, 2019sleep

Meet #FriendofFRAXA Jack! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Drug Tolerance is Likely Culprit Behind the Failure of MGluR5 Clinical Trials

FRAXA Research Foundation Bear, Mark • Massachusetts Institute of Technology (MIT) • McCamphill, Patrick • Research Updates November 19, 2019AFQ056, autism, drug tolerance, GSK3, lithium, mGluR, mGluR5, Novartis, Roche

We have long suspected that the clinical trials of mGluR5 blockers from Novartis and Roche failed because the drug triggered tolerance, losing effect over time. With a $90,000 grant from FRAXA, Dr. Patrick McCamphill, a Postdoctoral Fellow in the MIT lab of Dr. Mark Bear, is investigating. He does indeed find tolerance, and now he is looking for ways to overcome it.

National Institutes of Health Releases Fragile X Strategic Plan

Elle Skala Advocacy • FRAXA Updates November 15, 2019January 20, 2020FXPOI, FXTAS, NIH

FRAXA Program Coordinator, Elle Skala, and long time FRAXA supporter and previous Board Member, Mary Beth Busby, traveled to the National Institutes of Health earlier this week. The timing of this meeting was perfect because the National Institutes of Health (NIH) just released their long-anticipated Strategic Plan for Fragile X Syndrome, FXTAS, and FXPOI. It will guide federal Fragile X research funding for at least the next five years and open the door for continued funding of the Fragile X Research Centers of Excellence.

Meet Anthony!

FRAXA Research Foundation #FriendofFRAXA November 12, 2019November 12, 2019

Meet #FriendofFRAXA Anthony! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Meet Jagger!

FRAXA Research Foundation #FriendofFRAXA November 5, 2019

Meet #FriendofFRAXA Jagger! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

A Personal Touch to Supporting Fragile X Research

Elle Skala FRAXA Updates October 30, 2019

As we get closer to the holiday season and the end of the year approaches, we start to reflect on what we have accomplished throughout the year. Did we keep our New Year’s Resolution? Did we spend more time with family and friends? We at FRAXA want to remind you that there is no better time than the present to make a difference. Before the year ends, you can have an impact.

Targeting Adiponectin to Treat Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • Bettio, Luis • Christie, Brian • Current Research Grants • Thacker, Jonathan • Treatment Targets • University of Victoria October 29, 2019Fragile X Research Foundation of Canada, mTOR

FRAXA Research Foundation has awarded a $30,000 research grant to principal investigator Brian Christie, PhD, and postdoctoral fellows Jonathan Thacker, PhD, and Luis Bettio, PhD, at the University of Victoria. They are investigating whether boosting the hormone adiponectin can effectively treat Fragile X syndrome. This project is funded in partnership with the Fragile X Research Foundation of Canada, which is providing an additional $15,000.

Recruiting: Metformin Clinical Trial for Ages 16-50 with Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • Clinical • Clinical Trials • Current Research Grants • McBride, Sean • Recruiting • Rowan University • University of Pennsylvania October 24, 2019October 29, 2019autism, FDA, fruit fly, metformin, sleep

FRAXA Research Foundation is funding a clinical trial of metformin for teens and adults with Fragile X syndrome. The trial is being conducted by Dr. Sean McBride at Rowan University in collaboration with colleagues at the University of Pennsylvania. Men and women ages 16-50 with Fragile X syndrome are invited to participate.

Meet Matty & Jackson!

FRAXA Research Foundation #FriendofFRAXA October 22, 2019October 22, 2019

Meet #FriendofFRAXA Matty & Jackson! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

Healx Raises $56M to use AI to Find Treatments for Fragile X & Other Rare Diseases

FRAXA Research Foundation Drug Repurposing • FRAXA Updates • Healx October 16, 2019October 16, 2019baclofen, FRAXA-DVI, Healx, lithium, lovastatin, metformin, minocycline

Healx has secured $56M in new financing to build a clinical-stage portfolio for rare diseases, including treatments for Fragile X syndrome, and to launch a global Rare Treatment Accelerator program. Where the traditional drug discovery model takes more than a decade and can run into the billions of dollars, Healx’s AI-driven approach makes the process faster, more efficient and cost-effective.

FRAXA Biotech Games, It Can Only Happen in an Open Community

Keith Spiro Events Recap October 11, 2019December 5, 2019Alzheimer's, autism

The FRAXA Biotech Games exploded onto Cambridge Crossing with a capacity crowd. What was immediately obvious was the genuine camaraderie and mutual support of the biotech community and its many vendors to help raise awareness of and funds for research on Fragile X, the most common inherited cause of autism and intellectual disabilities.

Meet Alfie!

FRAXA Research Foundation #FriendofFRAXA October 8, 2019October 8, 2019

Meet #FriendofFRAXA Alfie! If you would like to nominate someone as a #FriendofFRAXA, we welcome all who have been touched by Fragile X, including friends, grandparents, siblings, professionals and companions alike to become a #FriendofFRAXA with the goal of putting a face to Fragile X for those who may not know someone directly.

FRAXA Welcomes Elle to the Team!

FRAXA Research Foundation FRAXA Updates September 20, 2019

Ellen Skala, known as Elle, has joined FRAXA Research Foundation as Program Coordinator. Elle is excited to work on the FRAXA team and we are excited to have her on board! She has experience in grant writing and personal fundraising campaigns. In her new role as program coordinator, Elle will communicate with FRAXA supporters throughout the country, connecting them to the mission and assisting them in fundraising and awareness-raising activities.

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