2017 Fragile X Research Grant: Neural Markers of Cognitive, Language, and Behavioral Deficits in Children with Fragile X

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

This 2017 grant of $90,000 over two years will enable Dr. Wilkinson to launch a study of EEG in young children with fragile X syndrome at Boston’s Children’s Hospital.  She will work with principal investigator, Dr. Charles Nelson, who is a 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.

Stephen Haggarty, PhD, Harvard/MIT, Principal Investigator, FRAXA research grant

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.