FRAXA Research Foundation, Author at Fragile X Research

Making Drug Development Efficient Through Community-Based Collaboration

FRAXA Research Foundation FRAXA Updates • Research Updates October 4, 2021October 14, 2021FRAXA-DVI

FRAXA co-founders Katie Clapp and Mike Tranfaglia, spoke virtually at the 5th Pharma Pricing Reimbursement and Market Access 2021 conference.

In this session, facilitated by Nadia Bodkin, PharmD, MS, from the Rare Advocacy Movement, Katie and Mike were joined by Christopher U. Missling, PhD, President and CEO of Anavex Life Sciences Corp. to discuss the collaboration between FRAXA and Anavex as a case study example to help raise awareness amongst others in the rare disease industry of these types of collaborations between advocacy and industry.

Meet Matthew!

FRAXA Research Foundation #FriendofFRAXA October 1, 2021education

Meet #FriendofFRAXA Matthew! He is in his final year of school and has always been enthusiastic about his education. He has faced each day with a positive attitude while being friendly and outgoing. Those who meet Matt say he leaves a lasting impression on them. He has been called “The Mayor”, as everyone knows and remembers Matthew where ever goes.

2021 Fragile X Research Grants Funded by FRAXA Research Foundation

FRAXA Research Foundation FRAXA Updates • Research Updates October 1, 2021October 12, 2021astrocytes, autism, CBD, CRISPR, drug repurposing, EEG, FDA, lovastatin, metformin, mRNAs, organoid

Each year, FRAXA funds a diverse portfolio of research. Our FRAXA Fellowships are seed funding for the future, the feedstock for the Fragile X treatment development pathway. While we are looking to promote as many promising new approaches as possible, prominent themes emerge each year, as scientists around the world tackle previously neglected areas.

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

FRAXA Research Foundation 2021 Grants • Current Research Grants • Kurosaki, Tatsuaki • Maquat, Lynne • Treatment Targets • University of Rochester September 30, 2021October 1, 2021mRNAs

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.

Exploring Drug Repurposing to Restore Hippocampal Function in FXS Mouse Models

FRAXA Research Foundation 2021 Grants • Current Research Grants • Drug Repurposing • Institut de Pharmacologie Moléculaire et Cellulaire • Martin, Stéphane • Pronot, Marie September 23, 2021September 27, 2021drug repurposing

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.

Meet Chloe!

FRAXA Research Foundation #FriendofFRAXA September 17, 2021

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.

Contribution of Microglia to the Therapeutic Effects of Metformin and Adiponectin in Fragile X Syndrome

FRAXA Research Foundation 2021 Grants • Christie, Brian • Current Research Grants • Drug Repurposing • Tremblay, Marie-Eve • University of Victoria September 16, 2021September 20, 2021Alzheimer's, arbaclofen, GSK3, metformin

The research team of Brian Christie, PhD and Marie-Eve Tremblay is developing ways to balance hormones, including drugs like metformin and changes in diet, which could not only reduce hunger and obesity, but ultimately also improve learning and behavior in Fragile X syndrome.

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

FRAXA Research Foundation Recruiting • Research Updates • Trials and Studies September 14, 2021October 13, 2021CBD, Zygel

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

20 Years of Advancing Fragile X Research: Progress Toward a Cure

FRAXA Research Foundation Bear, Mark • FRAXA Updates • Research Updates September 13, 2021September 29, 2021arbaclofen, baclofen, mGluR5

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.

Meet Noah!

FRAXA Research Foundation #FriendofFRAXA September 10, 2021

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.

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

FRAXA Research Foundation Berry-Kravis, Elizabeth • Cogram, Patricia • FRAXA Updates • Research Updates September 7, 2021September 29, 2021BPN14770, cyclic AMP, drug tolerance, FRAXA-DVI, NIH, PDE4, Tetra Therapeutics

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.

Alternative Splicing in White Blood Cells: A Biomarker for Fragile X Syndrome

FRAXA Research Foundation 2021 Grants • Berry-Kravis, Elizabeth • Biomarkers • Current Research Grants • Richter, Joel • Rush University Medical Center • Shah, Sneha • University of Massachusetts September 2, 2021September 2, 2021mRNAs, Pierce Family Fragile X Foundation

The Pierce Family Fragile X Foundation helping to fund a joint grant to the University of Massachusetts Medical School and Rush University Medical Center in exploring biomarkers to measure whether a treatment is helping and determine how to optimize treatment for each individual.

Raising Awareness and Funds for Fragile X Research at Barre3

FRAXA Research Foundation Events Recap August 23, 2021

“It was a fun and sweaty way to bring the community together for a great cause and a great workout.” FRAXA thanks Katie Bolin for organizing this event and others during the month of July. We also send a special thanks to Katie Heaps, owner of Barre3 Belleview Station, for supporting the Bolin family and FRAXA.

Fragile X Syndrome and Air Travel

FRAXA Research Foundation Advocacy • Community August 19, 2021August 19, 2021amyloid precursor protein

If you wish to participate in a letter writing campaign you can copy the letter below and start sending it the CEOs listed at the bottom of the page.

Meet Jacob!

FRAXA Research Foundation #FriendofFRAXA August 13, 2021

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.

Meet Benjamin!

FRAXA Research Foundation #FriendofFRAXA July 30, 2021

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.

Fragile X Syndrome: In Pursuit of a Cure Webinar

FRAXA Research Foundation FRAXA Updates • Seminar Series July 29, 2021Autifony Therapeutics, autism, cancer, Fragile X Research Foundation of Canada, Healx, Tetra Therapeutics

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.

2021 FRAXA Awards – Recognizing Perseverance and Dedication

FRAXA Research Foundation Berry-Kravis, Elizabeth • Chattarji, Sumantra • FRAXA Updates • Hagerman, Randi • He, Qionger July 22, 2021September 28, 2021Healx, Zygel

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.

Wieber Family Journey

FRAXA Research Foundation Community July 22, 2021

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.

Link Between Lipid Profile, eCBome System and Gut Microbiota in Fragile X Syndrome

FRAXA Research Foundation 2021 Grants • Abolghasemi, Armita • Caku, Artuela • Clinical • Current Research Grants • Treatment Targets • University of Sherbrooke, Canada July 15, 2021September 29, 2021

Why does obesity challenge so many people with Fragile X? Dr. Caku’s team thinks changes in the gut are the culprit. This team has found that Fragile X syndrome causes changes in the tiny organisms that live in our gut. They believe that these abnormalities cause changes in the brain which impair learning and behavior.

Living with Fragile X Syndrome: ‘He is growing…it’s just really slow’

FRAXA Research Foundation Community • FRAXA Updates July 12, 2021

In recent weeks, USA Today spent days with FRAXA co-founders Dr. Mike Tranfaglia and Katie Clapp, and their son Andy. Andy lives with Fragile X syndrome and is the focus of a segment of USA Today’s occasional series that explores how scientific advances are transforming care for rare diseases.

Characterization of Microglia Transcriptional Profile in Fmr1 Knockout Mice Mode

FRAXA Research Foundation 2021 Grants • Borreca, Antonella • Boussadia, Zaira • CNR - Institute of Neuroscience • Current Research Grants • Drug Repurposing July 1, 2021September 27, 2021Alzheimer's, astrocytes

With this grant, the team will identify the pathways responsible for this excessive activation and attempt to reverse the excess. If they can correct this using drugs, they will be able to identify a new potential treatment for Fragile X solving one more piece of the Fragile X brain puzzle.

The Role of Astrocyte BMP Signaling in Fragile X Syndrome

FRAXA Research Foundation 2021 Grants • Allen, Nicola • Current Research Grants • Deng, James • Disease Mechanisms • Salk Institute June 17, 2021June 17, 2021astrocytes

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.

Repurposing FDA-Approved Drugs to Treat Major Depressive Disorder in Fragile X Syndrome

FRAXA Research Foundation 2021 Grants • Current Research Grants • Drug Repurposing • Heaney, Chelcie • Raab-Graham, Kimberly • Wake Forest School of Medicine June 11, 2021September 27, 2021autism, drug repurposing, FDA

Did you know that depression is more common in those with autism and/or Fragile X? Even more disturbing is the discovery that current treatments for depression do not work in Fragile X mice. With this grant, the team will work to develop a rapid screening tool to identify FDA-approved drugs which can treat depression in people with Fragile X syndrome.

Memorial Tribute to Dr. Stephen T. Warren

FRAXA Research Foundation FRAXA Updates June 8, 2021June 9, 2021Fragile X Meeting, NIH

Dr. Stephen T. Warren passed away on June 6, 2021. In 1991, Dr. Warren discovered the genetic mutation which causes Fragile X Syndrome and named it FRAXA. Donations can be made in his honor to FRAXA Research Foundation.

Drs. Oostra, Warren, and Nelson discovered the Fragile X gene and its FRAXA mutation in 1991.

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