A Look Back at 2022 and Ahead to 2023 Research Prospects

A Look Back at 2022 and Ahead to 2023 Research Prospects

This holiday season you proved that the adage “actions speak louder than words” is entirely accurate. We sincerely appreciate your gifts in action. FRAXA supporters came out in full force to meet the generous $100,000 challenge offered on Giving Tuesday. By the end of the day, FRAXA had raised $269,744 thanks to matching donations! Amazing! Giving Tuesday was just the start. December ushered in a new $100,000 matching challenge from the Ralph and Ardis James Foundation – which we met! This is the second consecutive year that the Foundation has provided matching funds to accelerate Fragile X research. We are deeply grateful for the continued backing from the Ralph and Ardis James Foundation and for each donation received to advance our work. The Impact of COVID-19 on Fragile X Research We are very happy to report that we are on the rebound from COVID-19. When university labs closed around the

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Meet Ryder!

Meet Ryder!

Meet #FriendofFRAXA Ryder! 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.

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10 Year Vision for Fragile X Research – Dr. Elizabeth Berry-Kravis & Dr. Patricia Cogram

10 Year Vision for Fragile X Research – Dr. Elizabeth Berry-Kravis & Dr. Patricia Cogram

In this video we hear from FRAXA Investigators Dr. Patricia Cogram, Professor at the University of Chile, and Dr. Elizabeth Berry-Kravis, Professor at Rush University Medical Center as they reflect on the progress that has been made and visualize what they see happening in the next 10 years for people living with Fragile X syndrome.

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Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome

Astrocyte Contribution to Sensory Hypersensitivity in Fragile X Syndrome

Most Fragile X research has focused on one type of brain cells: neurons. But mounting evidence point to problems with astrocytes, star-shaped cells which are vitally important to normal brain function. This team is working to understand how astrocytes are involved in Fragile X and develop treatment approaches that targets astrocytes alone.

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Developmental Motor Phenotype in Fragile X Syndrome

Developmental Motor Phenotype in Fragile X Syndrome

One of the lesser known signs of Fragile X is unsteady walking. This is also very easy to evaluate in the clinic: no blood tests are required! With a $100,000 grant from FRAXA Research Foundation, this team will develop objective new outcome measures of gait for future treatment trials and also to see if exercise could improve other symptoms of Fragile X.

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Pharmacological Modulation of Nicotinic Signaling

Pharmacological Modulation of Nicotinic Signaling

Nicotine — familiar to any smoker — tickles nicotinic acetylcholine receptors in the brain. These receptors are key to important brain functions including learning and memory. This team will explore whether drugs that dampen these receptors can improve cognitive function in Fragile X.

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Zynerba Is Now Recruiting for Phase 3 Clinical Trial (RECONNECT) Of Zygel

Zynerba Is Now Recruiting for Phase 3 Clinical Trial (RECONNECT) Of Zygel

Zynerba has announced it is now recruiting subjects for a large-scale Phase 3 clinical trial (RECONNECT) of Zygel at sites across the United States, Australia, the UK and Ireland. They are recruiting children and adolescents with Fragile X syndrome for this randomized, double-blind, placebo-controlled, multinational study…

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Support the Stevenson Family Campaign

Support the Stevenson Family Campaign

As we tentatively and joyfully begin to emerge from the recent health crisis, it’s awe-inspiring to reflect on how we’ve all benefited from the world’s top scientists coming together to develop vaccines and treatments for COVID-19. That same passion for innovative science motivates us now more than ever to support brain research that could dramatically improve the lives of those coping with Fragile X syndrome.

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Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

Fragile X Clinical Trial of New PDE4D Inhibitor from Tetra

With a $200,043 grant from FRAXA Research Foundation, Dr. Elizabeth Berry-Kravis completed a successful Phase 2 clinical trial of a PDE4 inhibitor for adult men with Fragile X syndrome. This trial treated 30 males, 18-45 years of age with a new PDE4D allosteric inhibitor from Tetra Discovery Partners using a crossover design, so that everyone got active drug for part of the time and placebo for part of the time.

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Versatile Drug Screening Platform for Fragile X Syndrome

Versatile Drug Screening Platform for Fragile X Syndrome

Many experts believe that combinations of drugs may be needed to best treat Fragile X syndrome. How can we find the best combinations in the ideal doses? This project — a collaboration between a top university research team and an innovative AI startup both based in Belgium — tackles this challenge.

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Human FMR1 Isoform-Specific Regulation of Translation and Behavior

Human FMR1 Isoform-Specific Regulation of Translation and Behavior

Fragile X syndrome is caused by lack of one protein, FMRP. But this one protein occurs in different variations. Do the different versions of FMRP have different roles in the brain, and if so, is there one that’s key? If we could replace FMRP to treat Fragile X syndrome, which version would we use?

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Recruiting: Tetra Therapeutics Initiates Phase 2B/3 Clinical Studies in Fragile X Syndrome

Recruiting: Tetra Therapeutics Initiates Phase 2B/3 Clinical Studies in Fragile X Syndrome

Tetra Therapeutics has launched large scale clinical trials of their phosphodiesterase (PDE) inhibitor for males ages 12-45 with Fragile X syndrome. FRAXA Research Foundation’s basic and translational research pointed the way to phosphodiesterase inhibitors to treat Fragile X many years ago.

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Fiona’s Bat Mitzvah Project

Fiona’s Bat Mitzvah Project

October 1, 2022 is my Bat Mitzvah. For my mitzvah project I chose to fundraise for FRAXA. FRAXA is an organization that researches for effective treatments and ultimately a cure for Fragile X syndrome. The reason it is so close to my heart is because my oldest brother Colby has Fragile X. Although he is 20 years old, some of the struggles he experiences with Fragile X include sharing his thoughts and communicating his feelings.

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Functional and Genomic Characterization of Interneurons in the Fmr1-KO Mouse Brain

Functional and Genomic Characterization of Interneurons in the Fmr1-KO Mouse Brain

The brain’s balance is maintained by two types of neurons: those that excite and those that inhibit activity. Like yin and yang, this balance is essential. This team has found fewer than normal inhibitory cells in the brains of Fragile X mice. They are now working to pinpoint this abnormality and find ways to restore the normal balance and function.

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Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA has awarded $140,000 to Dr. Jeannie Lee and Dr. Hungoo Lee at Harvard Medical School and Massachusetts General Hospital. This team is targeting the root cause of Fragile X syndrome: a silenced single gene, called FMR1.

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Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice

Targeting Serotonin 1A Receptors in Fmr1 Knockout Mice

Dr. Canal has discovered a promising treatment approach for Fragile X syndrome: new compounds which specifically and potently boost serotonin in the brain. The target is the brain’s serotonin 1A receptor.

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