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January / 2016

Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD

“If you really want to study neurodevelopment, you have to study it in the brain, not just in a culture dish.”

Also pictured above: Dr. Meng Li.

In 2015, The John Merck Fund awarded grants to Xinyu Zhao, PhD, and Anita Bhattacharyya, PhD, from the University of Wisconsin-Madison Waisman Center, to explore cutting edge genetic treatments for Fragile X syndrome. Fragile X syndrome is an intellectual disability that affects one in 4,000 males and one in 8,000 females, and causes learning difficulties, hyperactivity, social anxiety, hypersensitivity to sensory stimuli, and autism and autism-related behaviors.

Just one single gene on the X chromosome, when shut off, causes Fragile X syndrome, and Xinyu and Anita are combining their expertise to find ways to reactivate this gene. While previous researchers have conducted their studies on mice, our grantees’ work will use human stem cells in order to draw more accurate conclusions about Fragile X syndrome treatments. Using a new genetic editing tool, they will insert a “reporter gene” allowing them to identify when new drugs succeed in reactivating the gene that causes Fragile X syndrome. Xinyu will also take stem cells and transplant them into mouse brains to more effectively study brain development and drug treatment.

JMF’s grant to Xinyu and Anita is part of our developmental disabilities Translational Research Program – supporting research with the potential for immediate impact on people with developmental disabilities and their families.

Both researchers have a long history of novel research in Fragile X syndrome treatments. Xinyu Zhao, PhD, and her research lab focus on the molecular mechanisms involved in neural stem cells and brain development to in order to treat neurological disorders and injuries. Anita Bhattacharyya, PhD, and her lab use stem cells to research Down and Fragile X syndromes with the hope of developing therapies to address these genetic developmental disabilities. Xinyu and Anita, along with The John Merck Fund, believe that this study will advance our understanding of Fragile X syndrome and open the door to future treatments.