Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome
$90,000 FRAXA Research Grant for 2019 With support from The Pierce Family Fragile X Foundation FRAXA has awarded $90,000 to Dr. Jeannie Lee and Dr. Hungoo Lee at Harvard Medical School and Massachusetts General Hospital. This team is targeting the root cause of Fragile X syndrome: a silenced single gene, called FMR1. With a previous $180,000 grant from FRAXA Research Foundation and The Pierce Family Fragile X Foundation from 2016-2018, the team ran a series of studies aimed at reactivating FMR1. They found a method using combinations of drugs which spur the gene to produce its normal protein product. Using drug "cocktails" they are able to reactivate FMR1 in cells in their lab! Dr. Lee explains in this video. Jeannie Lee, MD, PhD Principal Investigator Hungoo Lee, PhD FRAXA Postdoctoral Fellow Total Funding to This Lab to Date: $270,000 Harvard University Medical School Massachusetts General Hospital by Jeannie Lee, MD, PhDRead more

Three-Dimensional Model for Identifying Fragile X Treatments

Three-Dimensional Model for Identifying Fragile X Treatments

With a $90,000 grant from FRAXA Research Foundation awarded in 2018, Dr. Peng Jin and Dr. Juhnee Kang at Emory University will develop and analyze Fragile X brain organoids to understand the disorder and identify treatment targets.

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Creation of a Mouse Model to Test FMR1 Gene Reactivation

Creation of a Mouse Model to Test FMR1 Gene Reactivation

With $146,000 grant from FRAXA Research Foundation over 2012-2013, Drs. Anita Bhattacharyya and Xinyu Zhao at the University of Wisconsin developed a new mouse model of Fragile X syndrome which will enable testing of gene reactivation and gene therapy approaches to treatment. They transplanted human Fragile X neural cells differentiated from induced pluripotent stem cells into brains of neonatal mice and then testing for FMR1 reactivation. In 2015, The John Merck Fund assumed support for this work with a generous grant of $750,000 to the scientists.

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Reactivation of the FMR1 Gene

Reactivation of the FMR1 Gene

With a $50,000 grant from FRAXA Research Foundation, Dr. Giovanni Neri and his team at Universita Cattolica del S. Cuore screened compounds with Neuropharm (UK) for reactivating compounds. This team is collaborating with Dr. Stephen Haggarty at Harvard and MIT (who also has a FRAXA grant), researching reactivation of the FMR1 gene and characterization of cell lines with unmethylated full mutations. Results published.

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Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

With a $219,500 grant from FRAXA Research Foundation, Dr. Stephen Haggarty from Havard/MIT developed a high-throughput drug screen to find compounds that inhibit GSK3, a critical enzyme in Fragile X. He looked for compounds that can accomplish this either alone or in combination with lithium, offering the possibility of enhancing the effectiveness of lithium as a treatment. His drug screen used patient-specific neural progenitor (NP) cells derived from human induced pluripotent stem cells (iPSCs) – which are created from cells in a skin biopsy from people with Fragile X syndrome (FXS) and other autism spectrum disorders.

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Basic Mechanisms of Disease and Potential Therapeutic Strategies

Basic Mechanisms of Disease and Potential Therapeutic Strategies

With $245,000 in grants from FRAXA Research Foundation, Dr. Stephen Warren and his lab at Emory University studied all aspects of Fragile X syndrome, from the mechanisms of repeat expansion to high-throughput drug screens in the Drosophila model of Fragile X. The Warren lab made the original discovery of the Fragile X gene, FMR1, in collaboration with the Nelson and Oostra labs, and is recognized internationally as a leader in molecular genetics. Recent projects include establishment of induced pluripotent stem cell lines from Fragile X patients, and determination of other forms of mutation in the Fragile X gene, other than the most common trinucleotide repeat expansion.

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