Meet Archie!

Meet Archie!

Meet #FriendofFRAXA Archie! 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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Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain

Correcting Fragile X Syndrome Deficits by Targeting Neonatal PKCε Signaling in the Brain

With this $90,000 grant from 2017-2018, Dr. Banerjee’s team has shown that enhancing PKCε can correct brain development and abnormal behaviors in Fragile X knockout mice and had their findings published in PubMed.

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Potential Upcoming Advances in Fragile X Research

Potential Upcoming Advances in Fragile X Research

Dr. Peter Kind, Director of the Patrick Wild Centre and Professor of Developmental Neuroscience at the University of Edinburgh, and Dr. Nahum Sonenberg, James McGill professor of biochemistry at McGill University, share their optimism about the next 10 years of Fragile X research. They discuss where they think the next big discoveries will emerge.

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Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome

Lovamix: Clinical Trial of Combined Treatment of Minocycline and Lovastatin in Fragile X Syndrome

With a $66,714 grant from the FRAXA Research Foundation awarded over 2015-2017, Dr. Francois Corbin at the Universite of Sherbrooke will test the safety and synergistic effects of lovastatin and minocycline in patients with Fragile X syndrome.

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10 Year Vision for Collaborations That Transform Fragile X and Autism Research

10 Year Vision for Collaborations That Transform Fragile X and Autism Research

The future offers hope for people living with Fragile X syndrome. Collaborations between the Fragile X community and other disability organizations help to provide understanding and advancement of research to bring effective treatments to families. FRAXA’s Dr. Mike Tranfaglia talks with Autism Science Foundation’s Allison Singer about the importance of their collaboration as we look forward to the next 10 years.

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Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS

Characterization of a Novel CYFIP1 – Derived Peptidomimetic Restoring the Dysregulated mRNAs Translation: Toward An Innovative Therapeutic Strategy for FXS

The researchers are developing next-generation drugs called peptidomimetics, using the functional features of FMRP. If they succeed, the hope is that we will have new drugs that could make up for the loss of FMRP, thus treating Fragile X syndrome.

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FX-Learn Clinical Trial for Children with Fragile X

FX-Learn Clinical Trial for Children with Fragile X

Thirteen centers across the US enrolled children with Fragile X in a large-scale clinical trial of Novartis AFQ056. Dr. Elizabeth Berry-Kravis and colleagues aim to show that this targeted treatment — an mGluR5 blocker for Fragile X which failed in previous adult human trials — can be better evaluated by studying effects on learning in young children.

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Cannabinoids as a Treatment for Fragile X Syndrome

Cannabinoids as a Treatment for Fragile X Syndrome

Many people with Fragile X syndrome are hyper-sensitive to sights and sounds, and Electroencephalography (EEG) studies show that there are abnormalities in brain circuits. EEG studies show similar changes in Fragile X mice. So the team will use EEG tests in mice to find which drugs best reduce hypersensitivity. They can then easily move on to human EEG-based clinical trials. What they learn will tell us much more about why people with Fragile X are hypersensitive – and which drugs could best help them.

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Purposeful and FRAXA Partnership Leads to Clinical Trial

Purposeful and FRAXA Partnership Leads to Clinical Trial

Can a combination of drugs make a meaningful difference for people with Fragile X? A new clinical trial is going to find out. 15-20 adult men with Fragile X will be included in this upcoming trial, which will test the effects of an available drug and a nutritional supplement taken together.

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Making Drug Development Efficient Through Community-Based Collaboration

Making Drug Development Efficient Through Community-Based Collaboration

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.

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Meet Matthew!

Meet Matthew!

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.

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2021 Fragile X Research Grants Funded by FRAXA Research Foundation

2021 Fragile X Research Grants Funded by FRAXA Research Foundation

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.

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

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

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

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

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.

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