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Xinyu Zhao, PhD, a grantee in The John Merck Fund’s Developmental Disabilities Program (along with her colleague Anita Bhattacharyya), received the 2018 National Fragile X Foundation (NFXF) Research Award for outstanding contributions to the understanding of Fragile X syndrome. Zhao is a professor of neuroscience and Waisman Center investigator at the University of Wisconsin-Madison. The award was presented at the 2018 national conference held in Cincinnati, Ohio, in July. Zhao also presented, “Bridging the Gap: How Human Stem Cells May Help Us to Find Treatments for Fragile X Syndrome” as a featured speaker at the conference.
Fragile X syndrome is the leading inherited cause of intellectual disability, as well as the source of many cases of learning disabilities and autism. Fragile X is caused by a repetitive genetic error on the long arm of the X chromosome. The mutation is in a single gene called FMR1. A small set of nucleotides (the building blocks of DNA) are repeated excessively, disrupting the structure of the gene and preventing the production of its normally encoded protein (FMRP). The mutation is passed through families and can occur more frequently or severely in future generations.
Zhao’s research focuses on the function of FMRP in neuronal development—the process important for learning, memory, cognition, and adaptation. She is also exploring reactivation of the silenced FMRI gene as a potential treatment option.
“I am honored to receive this award and be included among the previous recipients who have made such significant contributions to Fragile X research” says Zhao. “We share a commitment to expand and advance this research with the goal of improving the lives of individuals and families impacted by Fragile X syndrome.”