Harvard University Archives • Fragile X Research

Small Molecule Cocktail Can Reactivate the Fragile X Gene in Cells: Progress Report

FRAXA Research Foundation Harvard University • Lee, Jeannie • Massachusetts General Hospital • Research Grant with Results February 20, 2019February 20, 2019iPS, Pierce Family Fragile X Foundation

With a $180,000 grant from FRAXA Research Foundation and the Pierce Family Fragile X Foundation, Dr. Jeannie Lee and her team at Harvard University and Massachusetts General Hospital have run a series of studies aimed at reactivating the gene, FMR1, which is silenced in Fragile X syndrome. Dr. Lee and colleagues have found a method using combinations of specific drugs which can spur the FMR1 gene to produce its normal protein product.

Neural Markers of Cognitive, Language and Behavioral Deficits in Children with Fragile X

FRAXA Research Foundation 2017 Grants • 2018 Grants • 2019 Grants • Biomarkers • Boston Children's Hospital • Clinical • Current Research Grants • Harvard University • Nelson, Charles A. • Wilkinson, Carol March 16, 2018April 20, 2019autism, EEG, Pierce Family Fragile X Foundation

This 2017 grant of $90,000 over two years enabled Dr. Wilkinson to study EEG in young children with Fragile X syndrome at Boston’s Children’s Hospital. She is working with principal investigator, Dr. Charles Nelson, Professor of Pediatrics at Harvard Medical School and a specialist in cognitive neuroscience. Co-funded by the Autism Science Foundation and the Pierce Family Fragile X Foundation.

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 with 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, 2017July 30, 2018Autifony 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, 2016July 26, 2018epigenetics, 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 Grant • Haggarty, Stephen • Harvard University • Massachusetts Institute of Technology (MIT) • Reis, Surya • Treatment Targets February 1, 2010August 9, 2018autism, GSK3, iPS, lithium

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.