Inhibiting Nonsense – Mediated mRNA Decay: A Potential Treatment Approach for Fragile X

All cells have a kind of housecleaning service which sweeps away genetic errors. This is called nonsense-mediated mRNA decay (NMD). With a previous FRAXA grant, this team discovered runaway NMD in cells of Fragile X patients. It’s not yet known how this impacts people with Fragile X. With this grant, Dr. Maquat and Dr. Kurosaki will test drugs which can bring NMD back to normal levels.

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Exploring Drug Repurposing to Restore Hippocampal Function in FXS Mouse Models

A gene’s job is to produce a protein. In Fragile X syndrome, the FMR1 gene is mutated and cannot make FMRP, a protein which shapes connections between nerve cells (neurons) in the brain. These connections are the basis of learning and memory. This team has discovered a mechanism involving FMRP that is absolutely essential to control the connections between neurons. These connections are the basis of learning and memory. They will now test available drugs which directly target this mechanism, to see if they can treat Fragile X syndrome.

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Meet Chloe!

Meet #FriendofFRAXA Chloe! She is a bright girl who loves to make a joke and see people smile! 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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20 Years of Advancing Fragile X Research: Progress Toward a Cure

Dr. Mark Bear joined the Fragile X field in 1999 when he received a research grant from FRAXA Research Foundation. At the time, we recognized the symptoms of Fragile X, and we knew its cause: a single missing protein. But we knew very little else. Dr. Bear traces the discoveries that now give us great optimism of finding effective treatments and ultimately a cure for Fragile X.

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Meet Noah!

Meet #FriendofFRAXA Noah! 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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Brain Organoids, Moving Fragile X Research Forward

There are many ways research produces discoveries, and all of them include a process of steps that build on each other. When an exciting new avenue appeared with potential for Fragile X syndrome, FRAXA stepped up to fund it. We now see the results of this grant and are excited to share them with you. The importance of different types of models have been shared and discussed over many years. We are now adding a “brain organoid” model to this group, and the potential behind it is really exciting.

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Tetra’s Fragile X Clinical Trial – The Most Successful So Far

Dr. Mark Gurney, CEO of Tetra Therapeutics, discusses how one of the earliest clues to the biology of Fragile X led to the most successful Fragile X clinical trial to date. FRAXA and Tetra began working together after a key FRAXA-funded study caught the attention of Dr. Gurney. Through the FRAXA Drug Validation Initiative, Dr. Patricia Cogram was able to conduct preclinical validation experiments with Tetra’s lead compound in record time, paving the way for clinical trials.

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Meet Jacob!

Meet #FriendofFRAXA Jacob! 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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Fragile X Clinical Trials

Synaptogenix Announced Intention to Launch a Fragile X Clinical Trial with Bryostatin

One of the most exciting kinds of work that FRAXA does is following the journey of an experimental new treatment until it is ready for trials in people with Fragile X. From an initial idea, through the development process, to clinical trials, FRAXA helps out all along the way. From an initial idea, through the development process, to clinical trials, FRAXA helps out all along the way. The recent announcement by Synaptogenix is a great example of how FRAXA funding and use of FRAXA-DVI can accelerate research on Fragile X.

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Meet Benjamin!

Meet #FriendofFRAXA Benjamin! His smile lights up the room. He is a burst of energy! He gives the best hugs and loves to cuddle. 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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Fragile X Syndrome: In Pursuit of a Cure Webinar

A global webinar titled “Fragile X Syndrome: In Pursuit of a Cure,” took place on July 22, 2021 to commemorate World Fragile X Day. This complimentary event is co-organized with WuXi AppTec. We are delighted that more than 5,000 registered from more than 50 countries worldwide, coming together to raise awareness of Fragile X, and to foster collaborations towards effective treatments and ultimately a cure.

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2021 FRAXA Awards – Recognizing Perseverance and Dedication

In conjunction with World Fragile X Day 2021, FRAXA Research Foundation is proud to recognize its annual award recipients. This year’s recipients exemplify the perseverance and dedication that has made FRAXA a global leader in Fragile X research for nearly 30 years. We are fortunate to partner with these individuals on research, community support and awareness efforts.

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Wieber Family Journey

When Zach and Leslie Wieber started their family, they were unaware of Fragile X syndrome. Then in 2012, they received the news that changed their lives. Their sons, now ages 13, 11, and almost 10, all live with Fragile X syndrome. Like many parents, the Wiebers felt relief and fear when their children were diagnosed.

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The Role of Astrocyte BMP Signaling in Fragile X Syndrome

Astrocytes are star-shaped cells that make up one fifth of all cells in the human brain. Recently researchers found a specific pathway in astrocytes that is overactive in Fragile X syndrome, and they hope to bring this pathway back to normal with a drug. With this grant, the team will try to correct the pathway in Fragile X mice. The hope is that they will find a new potential treatment approach for Fragile X syndrome.

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