- July 15, 2026
- By Jason P. Dinh
A University of Maryland researcher has received a nearly $425K grant from the National Institutes of Health (NIH) to investigate the causes of a rare and devastating form of congenital muscular dystrophy.
The two-year award from the NIH’s Eunice Kennedy Shriver National Institute of Child Health and Human Development will also support research aimed at laying the groundwork for future therapies of LMNA-related congenital muscular dystrophy (L-CMD), named for the mutated gene.
“Families living with rare diseases face enormous challenges every day,” said Department of Cell Biology and Molecular Genetics Professor Kan Cao. “We're grateful for the opportunity to help answer fundamental biological questions that may ultimately improve patients' lives.”
L-CMD is a rare genetic disease that has no existing treatments. It causes severe muscle weakening and wasting in childhood. Many affected children are unable to sit up, crawl or walk independently, and the disease fatally deteriorates the heart. Little is known about the biology underlying L-CMD, and there’s virtually no existing research on treatments, Cao said.
Cao’s new research will determine how a genetic mutation called R249W, which is linked to one-fourth of all L-CMD cases, affects muscle biology to cause disease. She and her collaborators will test whether the R249W mutation can be corrected using gene editing to restore cells to their healthy states in cell cultures. She will use a method called adenine base editing, a recently developed gene-editing technique that is similar to CRISPR-Cas9 but less error-prone. This approach mirrors Cao’s prior research, which showed in animal models that adenine base editing could be used to treat Hutchinson-Gilford Progeria Syndrome.
Cao's laboratory is uniquely positioned to pioneer L-CMD research because it has spent more than 20 years investigating progeria, a rare premature aging disease that is caused by mutations in the LMNA gene.
“Studying rare diseases can teach us so much more in terms of normal human aging, cardiovascular disease and even neurological disease,” she said. “Nobody knows much about L-CMD yet, but I think the same will be true here, too.”