The National Institutes of Health (NIH) is awarding multi-year grants to three centers conducting collaborative research into fragile X syndrome: Baylor College of Medicine, Emory University, and Cincinnati Children’s Hospital Medical Center.
Collectively, the centers will receive $25 million over the next five years, with funding coming from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Mental Health, and the National Institute of Neurological Disorders and Stroke.
The overarching goal is to better understand the biological consequences of mutations in the FMR1 gene, which cause fragile X. Findings from such research may ultimately lead to better care for people with this disorder.
“The FMR1 gene is revealing its far-reaching effects,” Tracy King, MD, medical officer in the intellectual and developmental disability branch at NICHD, said in a press release. “These centers will help us learn more about the gene, its related conditions and health effects, as well as ways to help individuals and families deal with these conditions.”
At Cincinnati Children’s, researchers will conduct parallel studies in a mouse model of fragile X and people with the syndrome.
“This work will improve our underlying understanding of fragile X biology with a strong emphasis on developing treatment strategies targeting the biological brain abnormalities discovered by the research efforts,” Craig Erickson, MD, director of the Fragile X Research and Treatment Center at Cincinnati Children’s, said in a separate press release.
Meanwhile, scientists at Emory will use organoid models of the disease. “Organoids” are cellular models — like traditional cell models, they can be grown in dishes in a lab, but are engineered to have a three-dimensional structure more similar to how cells are organized in the body.
Emory researchers will use organoids formed from human brain cells, which are derived from patient-donated tissues that are reprogrammed into pluripotent stem cells.
Organoids may be particularly important in fragile X, since biological differences in how FMR1 behaves in mouse cells and human cells — particularly related to the processing of messenger RNA from the gene and the subsequent production of protein — may limit the usefulness of animal models.
“What we’re learning is that there may be different RNA targets [for FMR1] in human and mouse cells. There’s a clear need to regroup and incorporate human cells into the research,” Nisha Raj, PhD, said in an Emory press release.
Raj works in the lab of Gary Bassell, PhD, who added: “All of the investigators are sharing these valuable resources and collaborating on multiple projects.”
Stephen Warren, PhD, co-director of Emory’s Fragile X Center and chair emeritus of human genetics, led an international team that discovered the FMR1 gene and the processes that block production of the FMRP protein. Stephanie Sherman, PhD, a geneticist at Emory, was the first to show the distinctive inheritance pattern of fragile X.
“Fragile X research is a consistent strength for Emory, stretching across several departments,” said Peng Jin, PhD, the center’s other co-director. “Now we have an opportunity to apply the knowledge we and our colleagues have gained to test the next generation of treatments.”
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