RARE Daily

Exeter and Marlyland Get $2.7 million NIH Grant to Fund New Treatments for Rare Neurodevelopmental Condition

November 18, 2021

The U.S. National Institutes of Health has made a $2.7 million (£2 million), seven-year grant to the University of Exeter and University of Maryland School of Medicine to fund a seven-year research program to find new treatments for a rare childhood condition.

Photo: Peter Crino, chair of the Department of Neurology at the University of Maryland School of Medicine

The funding will be used to discover therapies for KPTN-associated neurodevelopmental disorder. The team plans to discover treatments to prevent some of the health impacts of the condition, which include autism, epilepsy (which may be severe and difficult to treat), developmental delay, and learning difficulties. The medical problems associated with the condition are thought likely to be related to the abnormally large head and brain size that is characteristic of the disorder.

Researchers at Exeter discovered the genetic cause of the condition through genomics research studies in the Amish communities in Ohio. Amish children and adults with the disorder had been diagnosed with autism, but the Exeter research team recognized that this was a distinct disorder new to medical science. They discovered that the condition is caused by alterations in the ‘KPTN’ gene which forms part of the mTOR pathway, a molecular process important for the way the brain grows and develops.

The Exeter team subsequently contacted Peter Crino, chair of the Department of Neurology at the University of Maryland School of Medicine, an internationally renowned mTOR pathway expert specializing in developmental brain disorders, to devise new therapies for KPTN-related disease that have been effective in other mTOR pathway disorders. He agreed to serve as co-applicant on the grant.

“As a parent, you want to feel like you’re doing all you can for your child. It’s been so difficult watching our daughter suffer from epilepsy,” said KTPN Alliance parent co-founder Cara Abercrombie. “Finally, with this funding, and the promise offered by these brilliant researchers, we feel like we truly are doing all we can to help our daughter, and for the first time in many years, feel genuine hope she can have seizure relief and a better quality of life.”

Author: Rare Daily Staff

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