A professor at Hartwick College has received a prestigious award and grant that will allow him, and students at Hartwick, to study a rare neurological disease.
Eric Cooper, assistant professor of biology at Hartwick, received a Cottrell College Science Single Investigator Award from the Research Corporation for Science Advancement several weeks ago. Along with the award, he has received $35,000 in funding from the RSCA to conduct important research of a rare disease called Lesch-Nyhan Syndrome. Receiving the grant was “very exciting,” Cooper said, and the resulting research could shed light on the cause and progression of the disease.
“I am so grateful to the Research Corporation for this award,” Cooper said. “I am truly honored, and I am excited to conduct the research that this funding will support.”
Lesch-Nyhan Syndrome is a neurological disease that affects one in 380,000 individuals, almost exclusively males, Cooper said. The disease, he said, is characterized by neurological and behavioral abnormalities, as well as juvenile gout. Affected individuals have profound compulsions for self-injury, Cooper said, and have been known to bite off their lips or finger tips. Patients are also dependent on wheel chairs and experience writhing movements. There are medications to help with the gout, he said, but no medication has been found to decrease the intense masochistic urges.
Lesch-Nyan, Cooper said, is caused by a defect in a single enzyme that is involved in making nucleotides, the building blocks of DNA and RNA. When that enzyme is defective, he said, cells must compensate by increasing the activity of other enzymes.
Cooper, 43, said he first became involved in researching the disease while doing postdoctoral work at Johns Hopkins University. Originally from outside of New York City, he moved from Baltimore in 2011 and decided to continue his research at Hartwick, Cooper said. His studies are aimed at understanding the regulation and function of enzymes relevant to the disease and exploring Lesch-Nyhan Syndrome on a deeper level, he said.