Award
Eunice Kennedy Shriver National Institute of Child Health and Human Development 1R21HD116032-01A1
The Molecular Basis of R249W LMNA-related Congenital Muscular Dystrophy
Recipient
University of Maryland, College Park, MD
Award Amount
$424,743.00
Ceiling
$424,743.00
Awarded
June 25, 2026
Identifier
1R21HD116032-01A1
This award funds research to understand the molecular basis of R249W LMNA-related congenital muscular dystrophy and explore gene editing therapies to correct the mutation and its effects, aiming to develop new treatments for this rare muscle disease.
Description
LMNA-related congenital muscular dystrophy (L-CMD) caused by the R249W mutation is a serious, understudied childhood disorder that leads to extreme muscle weakness and currently has no treatments. This project will examine how this specific genetic mutation disrupts essential cellular processes in muscle development and assess the potential of adenine base editing to fix the mutation and its harmful effects. Results will offer vital mechanistic insights, identify therapeutic targets, and lay the groundwork for developing new treatments for this devastating disease.