FRAXA Research Foundation, Author at Fragile X Research

Scientists Find a New Way to Reverse Symptoms of Fragile X

FRAXA Research Foundation Bear, Mark • McCamphill, Patrick • Research Updates • Senter, Rebecca May 20, 2020May 26, 2020Alzheimer's, autism, cancer, glutamate, GSK3, hyperexcitability, hypersensitivity, lithium, mGluR, mGluR5, NIH, seizure

FRAXA Investigator and MIT Professor Mark Bear and his colleagues have identified a valuable new target for Fragile X therapeutics: GSK3 alpha. Several FRAXA research teams previously identified GSK3 beta as a treatment target for Fragile X. The catch is that, so far, GSK3 beta inhibitors have proven too toxic for regular use. Dr. Bear’s new discovery opens up the possibility of developing more selective compounds with less toxicity and fewer side effects. Interestingly, lithium inhibits both GSK3 versions – alpha and beta.

Bear lab (Bear 3rd from left, McCamphill on right)

Meet Anthony

FRAXA Research Foundation #FriendofFRAXA May 15, 2020

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.

Cholesterol-Dependent Changes in Fragile X Astrocytes

FRAXA Research Foundation 2019 Grants • 2020 Grants • Castren, Maija • Disease Mechanisms • Drug Repurposing • Ethell, Iryna • University of California at Riverside • University of Helsinki Finland May 6, 2020May 15, 2020astrocytes, lovastatin

FRAXA Research Foundation has awarded $45,000 to Dr. Maija Castrén, of the University of Helsinki, Finland. Dr. Castren is working with Dr. Iryna Ethell, at the University of California at Riverside, to uncover mechanisms behind beneficial effects of lovastatin and cholesterol-dependent changes seen in the Fragile X brain.

We’re All In This Together, One Day At A Time.

FRAXA Research Foundation Community • FRAXA Updates April 7, 2020May 26, 2020

As many of you know, FRAXA’s mission is to find effective treatment options and ultimately a cure for Fragile X. Right now though, we know that we have to pivot. The Fragile X community has always been the center of our mission and today, there are other ways we can be helpful. We would like to host virtual gatherings that will benefit the Fragile X community and help us all feel connected.

FRAXA is Thinking About You

FRAXA Research Foundation Community • FRAXA Updates March 23, 2020March 23, 2020

We recognize that with the constantly changing COVID-19 situation around the world, this is an unprecedented time for everyone — a time that, for many, is filled with uncertainty. Like many of you, we have children or adults at home with Fragile X syndrome. We truly understand what a great challenge this can be and are here to lend a hand.

Ketogenic Diet Eases Symptoms in Fragile X Male Mice

FRAXA Research Foundation Research Updates • University of Wisconsin • Westmark, Cara March 12, 2020March 12, 2020Alzheimer's, amyloid precursor protein, autism, EEG, metformin, NIH, seizure, sleep, sound

The Westmark laboratory continues to study sleep and rest-activity cycles in Fragile X mice as a potential outcome measure that correlates between preclinical and clinical research. The analysis of sleep EEG in the mice has proven more labor intensive than they anticipated, but the team is collaborating with Dr. Rama Maganti’s laboratory at UW-Madison on the development of computer scrips to speed up the analysis.

Fragile X Researcher, Cara Westmark, PhD

Meet Jackson!

FRAXA Research Foundation #FriendofFRAXA February 24, 2020February 24, 2020

Meet #FriendofFRAXA 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.

Drug Repurposing for Rare Disease and the Future of Health – The Genetics Podcast

FRAXA Research Foundation FRAXA Updates • Healx • Research Updates February 20, 2020February 20, 2020autism, Healx, metformin, minocycline

In this double-bill episode of The Genetics Podcast, Dr. Patrick Short talks to two key rare disease researchers in the field: Dr. Bruce Bloom, CCO of Healx, and Dr. Mike Tranfaglia, CSO of FRAXA. Both draw on their wide-ranging personal and professional experiences to discuss the successes and opportunities of drug repurposing, the power of using machine learning, and the work they’ve been doing to aid in finding effective treatments for Fragile X.

fNIRS to Measure Treatment Response in Young Children with Fragile X

FRAXA Research Foundation 2019 Grants • 2020 Grants • Cincinnati Children's Hospital • Clinical • Clinical Trials • Current Research Grants • Erickson, Craig • Recruiting • Smith Elizabeth February 13, 2020May 16, 2020AFQ056, EEG, mGluR5, NIH, Novartis

FRAXA Research Foundation has awarded a $90,000 research grant to Dr. Craig Erickson and Dr. Elizabeth Smith at Cincinnati Children’s Hospital to test functional near-infrared spectroscopy (fNIRS), in children who have Fragile X syndrome. fNIRS is safe, non-invasive, and easily-tolerated. It uses light sources and sensors on the scalp to build a heat map of the brain in action.

Results Reported: Using EEG Responses to Sound for Fragile X Drug Discovery

FRAXA Research Foundation Lovelace, Jonny • Razak, Khaleel • Research Updates • University of California at Riverside February 6, 2020February 7, 2020autism, EEG, FDA, Fragile X Meeting, hypersensitivity, mGluR5, minocycline, NIH, sound

Jonathan Lovelace, a FRAXA funded Postdoc at UC Riverside, has made some exciting EEG findings over the past few years studying auditory hypersensitivity in mice and therapeutic drug treatments. A big obstacle in FXS research has been establishing reliable, unbiased, and translation relevant biomarkers that can be used to determine the effectiveness of therapies. One of the most important discoveries they have made is the striking similarity in EEG biomarkers between mice and humans.

Should You Participate in a Fragile X Clinical Trial?

FRAXA Research Foundation Research Updates February 3, 2020February 4, 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.

Job Listing: Neurodevelopmental Disorders Postdoctoral Research Fellow

FRAXA Research Foundation Research Resources January 31, 2020autism, EEG, FXTAS

The Kansas Center for Autism Research and Training (K-CART) and Life Span Institute at the University of Kansas currently are seeking one postdoctoral fellow interested in advancing their research skills and progressing towards a career as an independent, externally funded investigator studying autism spectrum (ASD) or related neurodevelopmental disorders (e.g., Fragile X syndrome).

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

FRAXA Research Foundation 2017 Grants • 2018 Grants • Biomarkers • Disease Mechanisms • Klug, Achim • McCullagh, Elizabeth • Research Grant Results • University of Colorado January 28, 2020January 29, 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.

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!

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.

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.

Brain Research Matters – Support the Stevenson Family Campaign

FRAXA Research Foundation Fundraising Campaigns November 17, 2019November 22, 2019Alzheimer's, autism

When our oldest son, Taylor, was diagnosed at age 2 with Fragile X, the most common inherited cause of mental impairment and autism, brain research suddenly became deeply personal to our family. Please consider making a gift to help accelerate research to find effective treatments and ultimately a cure for Fragile X.

Lucas Hopes You will Support the Clark Family Campaign

FRAXA Research Foundation Fundraising Campaigns November 16, 2019January 27, 2020

Lucas lives for his routines. Unfortunately, life gives us unexpected twists and turns and things very often don’t go our way. This is extremely hard for people like Lucas who have Fragile X. Please help us make life easier for Lucas and people like him across the planet living with this rare disease.

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