Harvard University Archives • Fragile X Research

Reactivating the FMR1 Gene to Reverse Fragile X Syndrome

FRAXA Research Foundation 2019 Grants • 2020 Grants • Current Research Grants • Genetic Rescue • Harvard University • Lee, Hungoo • Lee, Jeannie • Massachusetts General Hospital • Treatment Targets July 11, 2019May 16, 2020iPS, Pierce Family Fragile X Foundation

FRAXA Research Foundation and The Pierce Family Fragile X Foundation have awarded a 2019 grant of $90,000 to Dr. Jeannie Lee’s lab at Harvard and Massachusetts General Hospital. They have discovered a method that will reactivate the FMR1 gene by treating cells with a cocktail of small molecules, under a specific regimen in vitro (patent filing pending).

Investigating Gene Reactivation to Treat Fragile X Syndrome

FRAXA Research Foundation 2016 Grants • 2017 Grants • 2018 Grants • Genetic Rescue • Harvard University • Lee, Jeannie • Massachusetts General Hospital • Research Grant Results September 22, 2017March 27, 2019CRISPR, Pierce Family Fragile X Foundation

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.

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

J. Dora Levin Biomarkers • Boston Children's Hospital • Clinical • Harvard University • Nelson, Charles A. • Research Updates • Wilkinson, Carol August 17, 2017June 20, 2019Autifony Therapeutics, autism, EEG, hypersensitivity, ion channel, Pierce Family Fragile X Foundation, sleep, sound

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.

The X Factor – Turning on X Chromosome Genes to Treat X-linked Disorders

Theodore Coutilish Genetic Rescue • Harvard University • Lee, Jeannie • Research Updates May 9, 2016December 26, 2019epigenetics, NIH, Rett syndrome

Harvard researcher Jeannie T. Lee, MD, PhD, moves closer to turning on select genes on the X chromosome to treat people with X-linked disorders.

Small Molecule Modulators of Lithium for Treatment of Fragile X Syndrome

FRAXA Research Foundation 2006-2010 Grants • Completed Research Grants • Haggarty, Stephen • Harvard University • Massachusetts Institute of Technology (MIT) • Reis, Surya • Treatment Targets February 1, 2010August 9, 2018autism, GSK3, iPS, lithium, NIH

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.