Virginia Commonwealth University · NeuroscienceCongenital Myotonic Dystrophy Research Lab
Nicholas Elwood Johnson · Richmond, Virginia
Research Focus
Dr. Nicholas Elwood Johnson's lab focuses on understanding congenital myotonic dystrophy, a severe muscle disorder affecting infants and children. The team investigates the molecular changes in RNA and gene expression that occur during the disease's progression. By studying muscle samples from affected individuals at various ages, they aim to uncover the underlying mechanisms of the disease and identify potential new therapies to help treat these patients.
RNA splicinggene expressioncongenital myotonic dystrophymuscle weaknessbiopsytherapeutic targetspediatric developmentstem cellsmolecular mechanisms
Research Aims
3AIM 01Enroll additional children with congenital myotonic dystrophy for longitudinal assessments of muscle function and biopsies.
AIM 02Evaluate the regenerative capacity of muscle stem cells across pediatric development.
AIM 03Investigate the role of co-spliceosomal patterns in RNA mis-splicing signatures in congenital myotonic dystrophy.
Skills the Lab Values
RNA sequencingmuscle biopsiesgene expression analysisdata analysiscell cultureclinical study designlongitudinal studiesmolecular biology techniquesbioinformatics
Output against the department
Publications196top 38% of dept.252nd of 671
this lab
most publishedleast published
Citations3.6kbottom 27% of dept.492nd of 671
this lab
most citedleast cited
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