epigenetics Archives

Dr. Joel Richter and Dr. Sneha Shah in their UMass Chan Medical School lab researching ASO therapy for Fragile X syndrome.

ASO Rescue of FMR1 Mis-Splicing in Neurons and Mitigation of Fragile X Deficits

September 16, 2025

A new FRAXA grant funds UMass Chan researchers using ASOs in neurons and organoids to correct FMR1 mis-splicing and restore critical FMRP protein.

Jeannie Lee, MD, PhD and Chloe Chen, PhD

Modeling R-Loop Therapy for Fragile X Syndrome in Patient-Derived Brain Organoids

July 18, 2025

Fragile X syndrome researchers model R-loop therapy in patient-derived brain organoids to restore FMR1, accelerating a curative approach supported by FRAXA.

Dr. Jeannie Lee standing in front of a staircase at Harvard Medical School, recipient of the Blavatnik $1M award for Fragile X gene reactivation research

Harvard’s Dr. Jeannie Lee Wins $1M Award to Develop Gene Reactivation Therapy for Fragile X

May 30, 2025

Dr. Jeannie Lee wins $1M Blavatnik Award to advance FMR1 gene reactivation therapy for Fragile X, building on years of FRAXA-funded research.

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

November 7, 2023

This project aims to reactivate the FMR1 gene to combat Fragile X Syndrome, with the goal of restoring vital protein function. This work is now funded by a new FRAXA grant.

Antisense Oligonucleotides (ASOs) to restore FMRP in Human Fragile X Cerebral Organoids

August 24, 2023

Explore Dr. Richter’s encouraging results with ASOs for Fragile X syndrome. A $100,000 grant now fuels pivotal studies needed to advance toward ASO therapy.

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

December 8, 2020

Dr. Zhexing Wen and Dr. Peng Jin of the newly funded Fragile X Center of Excellence at Emory University School of Medicine join us in this seminar to present about Understanding the Role of FMRP in Human Brain Development Using Brain Organoids.

Deep Molecular Profiling of Fragile X Mouse and Human Cells

September 5, 2019

Studying human Fragile X neurons from stem cells revealed key gene changes not seen in mice—showing why some treatments failed and guiding better future therapies.

CRISPR Reactivation of the Fragile X Gene

December 6, 2017

“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.”

The X Factor – Turning on X Chromosome Genes to Treat X-linked Disorders

May 9, 2016

Harvard researcher Jeannie T. Lee, MD, PhD, moves closer to turning on select genes on the X chromosome to treat people with X-linked disorders.

Reactivation of the FMR1 Gene

February 22, 2010

The team screened compounds with Neuropharm (UK) looking for compounds to reactivate the FMR1 gene. They also analyzed unmethylated full mutation cell lines.

Stephen Haggarty, PhD, Harvard/MIT, Principal Investigator, FRAXA research grant

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

February 1, 2010

With a $219,500 FRAXA grant, Dr. Stephen Haggarty at Harvard/MIT used patient-derived stem cells to screen drugs targeting GSK3, aiming to enhance lithium therapy.

Genome-wide Epigenetic Markers in Fragile X

February 5, 2009

Dr. Miklos Toth’s FRAXA-funded work at Cornell University examined how epigenetic factors shape the severity of Fragile X symptoms.

Basic Mechanisms of Disease and Potential Therapeutic Strategies

February 2, 2009

Dr. Stephen Warren’s FRAXA-funded research at Emory led to the Fragile X gene discovery and new breakthroughs using stem cells and model systems.

In Vitro Reactivation of the Fragile X Gene

January 14, 2008

With FRAXA funding, Dr. Giovanni Neri’s team in Italy explored reactivating the FMR1 gene and studying cell lines with unmethylated full mutations.

Justin Fallon, PhD, Brown University, FRAXA research grant

Transcriptional Regulation of the Fragile X Gene

February 13, 2006

FRAXA’s $60K grant supported Dr. Justin Fallon’s Brown team in mapping Fragile X granules and uncovering FMRP’s presynaptic role.

ASO Rescue of FMR1 Mis-Splicing in Neurons and Mitigation of Fragile X Deficits

Modeling R-Loop Therapy for Fragile X Syndrome in Patient-Derived Brain Organoids

Harvard’s Dr. Jeannie Lee Wins $1M Award to Develop Gene Reactivation Therapy for Fragile X

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

Antisense Oligonucleotides (ASOs) to restore FMRP in Human Fragile X Cerebral Organoids

Towards Understanding the Role of FMRP in Human Brain Development Using Brain Organoids

Deep Molecular Profiling of Fragile X Mouse and Human Cells

CRISPR Reactivation of the Fragile X Gene

The X Factor – Turning on X Chromosome Genes to Treat X-linked Disorders

Reactivation of the FMR1 Gene

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

Genome-wide Epigenetic Markers in Fragile X

Basic Mechanisms of Disease and Potential Therapeutic Strategies

In Vitro Reactivation of the Fragile X Gene

Transcriptional Regulation of the Fragile X Gene

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