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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Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells

Genome-wide Screen for FMR1 Reactivation in Human FXS Neural Cells

Drs. Mahmoud Pouladi and Kagistia Utami at the Agency for Science, Technology and Research (A*STAR) in Singapore have won a $67,500 research grant from FRAXA Research Foundation. Their goal is to reactivate the gene which is silenced in people who have fragile X syndrome.

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Small Molecules To Target r(CGG) Expansions to Treat Fragile X Syndrome

Small Molecules To Target r(CGG) Expansions to Treat Fragile X Syndrome

With a 2-year, $90,000 grant from FRAXA Research Foundation, Dr.’s Matthew Disney and Wang-Yong Yang worked to correct the underlying problem in fragile X: the silencing of the fragile X gene (FMR1) and the resulting lack of FMRP (Fragile X Mental Retardation Protein). Their approach was to use novel small molecules to target the abnormal CGG repeats before the FMR1 gene.

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FRAXA Research Grant to Giovanni Neri, MD – Universita Cattolica del S. Cuore

FRAXA Research Grant to Giovanni Neri, MD – Universita Cattolica del S. Cuore

with Pietro Chiurazzi, MD, PhD, FRAXA Postdoctoral Fellow FRAXA Awards: $50,000 in 2010 $60,000 in 2008 $32,000 in 2000 $30,000 in 1999 Reactivation of the FMR1 Gene This team is collaborating with Dr. Stephen Haggarty at Harvard and MIT, who also has a FRAXA grant. Reactivation of the FMR1 gene and characterization of cell lines with unmethylated full mutations. by Giovanni Neri, 4/1/2010 We are screening dozens of potentially reactivating compounds with a histone hyperacetylating effect, in collaboration with the orphan-drug company Neuropharm (UK). A new collaboration established with Dr. Steve Haggarty at the Broad Institute of Harvard and MIT will also allow us to screen molecules that appear to have an effect comparable to that of 5-azadC, but independent of cell division. The discovery of such reactivating compounds would facilitate subsequent clinical trials. We also continue studying the epigenetic changes that regulate transcription in FXS patients and in UFM

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Studies on FMR1 Gene Delivery Using Herpes Simplex Virus Vectors

Studies on FMR1 Gene Delivery Using Herpes Simplex Virus Vectors

With $89,000 from FRAXA Research Foundation over 2001-2005, Dr. David Bloom investigated gene therapy for fragile X. The Bloom lab specializes in the development of gene therapy techniques, and they have succeeded in transferring the fragile X gene (fmr1) into the brains of live mice, using viral vectors. They studied ways to enhance this process, with the ultimate goal of gene therapy for people with fragile X.

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