Renewed Hope: Navigating Towards a Cure for Fragile X Syndrome

Discover how Dr. Peter Todd’s latest Fragile X Syndrome research offers hope for advanced treatments and a possible cure, marking a new era in FXS therapy.

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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 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 cure Fragile X.

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Todd-Haenfler

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

Congrats to FXAM! Their months of effort paid off with a $35K grant to support Dr. Todd’s groundbreaking Fragile X CRISPR research.

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Fragile X CRISPR-Cas9

Can CRISPR Cure Fragile X Syndrome?

CRISPR/Cas9 was used by MIT researchers to remove the molecular tags that keep the mutant gene shut off in Fragile X syndrome neurons and resulted in some of them producing protein normally. Much work is being done right now, with exciting new discoveries coming at a fast and furious pace.

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Todd-Haenfler

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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18th International Fragile X and Related Neurodevelopmental Disorders Workshop, Quebec, Canada

In Their Own Words: Reports From the International Fragile X Workshop

The 18th International Fragile X Workshop in Quebec was a great success, featuring more Fragile X research than ever before!

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Dr. Peter Todd

Targeted Transcriptional Reactivation of FMR1 in Fragile X Syndrome Stem Cells

FRAXA funded Dr. Peter Todd to use CRISPR to reactivate FMR1. Published results confirmed restored gene expression, a big step toward disease-modifying therapy.

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Dr. Haenfler and Dr. Todd

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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Kenneth J. Mack, MD, PhD, at Mayo Clinic, FRAXA research grant

Role of Experience in Regulating Levels of the Fragile X Protein

With $49K from FRAXA, Drs. Mack and Todd studied how brain stimulation changes FMRP levels, deepening Fragile X research insight.

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FRAXA Funded Research

Current Research Grants (38)