Induced pluripotent stem cells (iPS) Archives • FRAXA Research Foundation

The Hye Young Lee Lab at UT Health San Antonio – a dynamic team leading cutting-edge gene therapy research for Fragile X syndrome using next-generation mRNA delivery systems.

Gene Therapeutic Development for Fragile X Syndrome

October 27, 2025

Dr. Lee’s team is testing RNA editing gene therapy for Fragile X, aiming to repair FMR1 RNA and restore missing protein — targeted, reversible, promising.

FMRP Regulatory Role in Human Hippocampal Development and Therapeutic Interventions in Fragile X

October 16, 2025

Fragile X syndrome hippocampal organoids show neuron–glia imbalance. This team will map disrupted gene networks and test PDE inhibitors to restore brain function.

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.

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.

Unraveling Fragile X Syndrome: New Insights into FMR1 Gene Reactivation

June 20, 2023

Discover groundbreaking methods for reactivating the FMR1 gene in Fragile X syndrome. Dive into the transformational research and the implications of self-healing at a cellular level.

Beneath the Surface of Fragile X Syndrome: Study Sheds Light on What’s Happening in Nerve Cells

February 3, 2021

This FRAXA-funded project has turned up some surprising results. At first, it might seem Kurosaki and Maquat have found yet another cellular process which is malfunctioning in Fragile X. But this finding is intimately related to previous findings of abnormal protein synthesis and misregulated transcription in Fragile X. FMRP (the protein lacking in Fragile X syndrome) is involved in chaperoning messenger RNAs within cells to active sites, and in controlling their translation into many different proteins. Some of these proteins are transcription factors, which feed back to the nucleus to control gene expression.

Brain Organoids and Therapeutic Development for Fragile X and Other Rare Diseases

July 15, 2020

This is the first in a series of webinars focused on current topics in Fragile X research. In this webinar we hear from Alysson R. Muotri, PhD, Professor at University of California San Diego Stem Cell Programand Fabio C. Tucci, PhD, Chief Operating Officer and co-founder at Epigen Biosciences, Inc.

Cholesterol-Dependent Changes in Fragile X Astrocytes

May 6, 2020

Astrocytes and cholesterol metabolism are altered in Fragile X. This research uncovers how these changes affect the brain and may reveal new treatment targets like lovastatin.

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.

Synaptic Characterization of Human Fragile X Neurons

September 12, 2014

Stanford scientists used human stem-cell–derived neurons to show that retinoic acid signaling is blocked by Fragile X, revealing a new pathway to target for treatment.

Developing IPS cells to Screen Drugs which can Reactivate the FMR1 Gene

March 20, 2013

This project developed human stem cell and mouse models to test FMR1 gene reactivation in the brain, advancing future gene therapy strategies for Fragile X.

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.