Reactivating the Fragile X Gene in Young Mice Reverses Symptoms

Reactivating the Fragile X Gene in Young Mice Reverses Symptoms

A new FRAXA-funded research project offers hope that Fragile X syndrome could be treated by reactivating the gene which is shut down in people with the syndrome. Researchers at the University of California, Riverside report that they were able to reduce FXS symptoms by inserting the FMR1 gene into the brains of very young mice.

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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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How Promising is CRISPR for Fragile X?

How Promising is CRISPR for Fragile X?

Peter Todd, MD, PhD, Assistant Professor in the Department of Neurology in the University of Michigan Medical School, was recently awarded a FRAXA Research Grant for gene reactivation with the use of CRISPR. In this interview he tells us about CRISPR in Fragile X research, how realistic is it that it could turn the Fragile X gene back on, and if it can really be a cure for Fragile X.

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Retinoic Acid Signaling is Blocked by Fragile X Mutation

Retinoic Acid Signaling is Blocked by Fragile X Mutation

With a 2013-2014 FRAXA Research Grant, Principal Investigator Marius Wernig, PhD and FRAXA Fellow Samuele Marro, PhD at Stanford University found that the Fragile X mutation impairs homeostatic plasticity in human neurons, by blocking synaptic retinoic acid signaling. Retinoic acid is a metabolite of Vitamin A. The system they have developed could provide a powerful new cellular biomarker for screening many treatment approaches.

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Fragile X Research Impacted by a Small Group of Thoughtful, Committed Citizens

Fragile X Research Impacted by a Small Group of Thoughtful, Committed Citizens

Theirs was an effort by a small group of thoughtful, committed members of the Fragile X Association of Michigan (FXAM) to be sure. The entire project took months! But it was hard work well worth the effort. After writing and revising (and revising), FXAM was awarded a $35,000 grant which the Michigan Fragile X group will now direct to Dr. Todd’s ongoing Fragile X research involving CRISPR!

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Takeaways from Fragile X Advocacy Day

Takeaways from Fragile X Advocacy Day

In the first week of March I attended my first Fragile X Advocacy Day to meet with many of the Massachusetts delegation to Congress. While this was my first time advocating for Fragile X research, I’ve been a longtime lung cancer research advocate and have met with many of the same representatives in the past. It was a pleasure to meet with many of the families as my participation in Advocacy Day was in the spirit of “we are all in this together”.

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CRISPR Reactivation of the Fragile X Gene

CRISPR Reactivation of the Fragile X Gene

“We are trying to target the first event that goes wrong in Fragile X syndrome”, says Todd, “One reason our previous attempts to develop treatments for Fragile X syndrome have failed is that they’ve tried to target the downstream effects of losing the Fragile X protein. The protein does many things… bypassing all the functions that it normally takes care of has proven difficult from a pharmacologic perspective.”

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Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells

Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells

With a $90,000 grant from FRAXA Research Foundation awarded in 2016, University of Michigan researcher Peter Todd, MD, PhD, is using CRISPR to selectively turn the Fragile X gene back on in stem cells.

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Investigating Gene Reactivation to Treat Fragile X Syndrome

Investigating Gene Reactivation to Treat Fragile X Syndrome

With a $180,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.

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University of Michigan researcher Peter Todd, MD, PhD, Aims to Selectively Turn the Fragile X Gene Back on in Human Cells

University of Michigan researcher Peter Todd, MD, PhD, Aims to Selectively Turn the Fragile X Gene Back on in Human Cells

Fish like salmon are born in fresh water streams and rivers. When the time comes for them to breed, they return to the stream of their birth to lay eggs in the same spot where they were born. To accomplish this, they must swim upstream against the current or flow of the stream. Taking a page out of the salmon DNA playbook, University of Michigan scientists Peter Todd, MD, PhD, and postdoctoral fellow Jill Haenfler, Ph.D., are exploring unchartered waters to find a cure for Fragile X Syndrome. The researchers are adapting CRISPR research to reactivate the FMR1 gene, which provides instructions for making a protein called FMRP — needed for normal brain development.

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CRISPR – Does it hold promise for Treatment of Fragile X Syndrome?

CRISPR – Does it hold promise for Treatment of Fragile X Syndrome?

There’s been a lot of press concerning a new biotechnology called CRISPR/Cas9, or simply CRISPR. This technology, which is based on the discovery of naturally-occurring bacterial defense mechanisms, has attracted an enormous amount of biotech investment. It has also excited the imaginations of scientists, clinicians, and rare disease advocates everywhere. How might CRISPR be applied to Fragile X syndrome? CRISPR offers the tantalizing possibility of “editing” genes very precisely, and it could (theoretically) excise the methylated trinucleotide repeat sequence from Fragile X cells, rendering them entirely normal.

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