Rare Daily Staff

New York State’s Institute for Basic Research in Developmental Disabilities (IBR) has received a five-year $1.95 million grant from the National Institute of Health’s National Institute of General Medical Sciences (NIGMS) to support IBR physician-scientist Gholson Lyon in his research on rare diseases.

Lyon plans to use the funds to expand his studies related to the discovery and genetic characterization of rare human diseases. Among these diseases are ones involving severe developmental delay and physical malformations, such as Ogden syndrome, which Lyon discovered and named. Ogden syndrome is characterized by craniofacial abnormalities, hypotonia, global developmental delays, cryptorchidism, cardiac anomalies, and cardiac arrhythmias. It is estimated to occur in 1 of 1,000,000 births.

Lyon studies rare diseases associated with a modification of proteins called N-terminal acetylation (NTA), which is crucial for the regulation and function of different proteins and is believed to play an important role in cells’ ability to proliferate. Despite the importance of NTA, its function is not well understood. Lyon’s research focuses on understanding the function of NTA and its role in the origin and development of Ogden syndrome and other diseases involving mutations in the same gene, NAA10, as found in Ogden syndrome, or with mutations in a related gene, NAA15.

Lyon has dual roles at IBR as both a psychiatrist at its clinic, and as a researcher heading its Genomic Medicine Laboratory. With this grant, he will conduct clinical studies for families with NAA10- and NAA15-related syndromes to better understand the genetic basis of the syndromes and undertake basic research studies at the molecular level. He aims to reveal the biological pathways associated with these diseases.

“These studies will be a critical step toward revealing the role of NTA in human health and disease, including neurodevelopmental diseases,” said OPWDD Commissioner Theodore Kastner, commissioner of New York’s Office for People with Developmental Disabilities, which oversees IBR.

Photo: Ghoslon Lyon, psychiatrist and head of IBR’s Genomic Medicine Laboratory

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