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.
Fragile X syndrome hippocampal organoids show neuron–glia imbalance. This team will map disrupted gene networks and test PDE inhibitors to restore brain function.
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.
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.
The team is developing new, more accurate Fragile X brain organoids to help researchers study neural circuit problems and accelerate testing of future treatments.
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.
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.
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.
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.
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.
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.
The team screened compounds with Neuropharm (UK) looking for compounds to reactivate the FMR1 gene. They also analyzed unmethylated full mutation cell lines.
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.
