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

Investigating Gene Reactivation to Treat Fragile X Syndrome

Investigating Gene Reactivation to Treat Fragile X Syndrome

With a $180,000 grant from FRAXA Research Foundation from 2016-2017, Dr. Jeannie Lee and her team at Harvard are working to reactivate the gene that is silenced in Fragile X syndrome.

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Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

Neural Markers of Fragile X: A Powerful New Tool for Clinical Trials

Once the neural marker is identified for a particular challenge, such as kids with poor language versus good language, neural markers can be measured during drug and behavioral therapy trials to see if a child is improving based on objective biological measures.

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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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