Tokunbor Lawal, Ph.D., FNP-BC

Independent Research Scholar

Muscle Disease Unit


Building 10, Room 2A07
10 Center Drive
Bethesda, MD 20892


Research Topics

Topic: Development of preclinical translational models of congenital myopathies related to skeletal muscle excitation-contraction coupling defects in order to identify opportunities for therapeutic interventions.

Issue: Congenital myopathies (CM) are a heterogeneous group of early-onset neuromuscular disorders that primarily present with hypotonia, muscle weakness that include facial muscles, and often respiratory involvement. Adult-onset cases have also been described. They are frequently associated with significant lifelong morbidities that are severely disabling and can result in premature mortality. They have historically been classified based on muscle biopsy findings. Over 20 genes have been linked with CM. A key area of pathology in CM are the skeletal muscle triads that control excitation-contraction coupling. There is no approved treatment for this group of debilitating diseases. CM constitutes a group of rare (orphan) diseases (pooled prevalence: 1.5/100,000). A significant portion of genetic variations identified in individuals with CM are classified as variants of uncertain significance (VUS). While pathogenic variants have a clinically confirmed association with increased disease risk, VUS results do not. The functional consequence of harboring a VUS is not known and not clearly linked to disease. A VUS can be reclassified through functional assays that characterize the impact of such genetic variations on protein function.

Impact: The Lawal Lab aims to functionally characterize genetic VUS associated with skeletal muscle excitation-contraction coupling disorders using relevant, reliable, and cost-effective preclinical models. These preclinical models allow us to screen promising therapeutic compounds and elucidate the patho-mechanisms that can be targeted for therapeutic interventions in clinical trials. Our research is focused on reducing and ultimately eliminating the health inequities facing individuals with CM without approved treatments, and identify effective approaches to improve the health and quality of life of individuals with this rare and neglected group of genetic disorders.


Dr. Lawal received his Ph.D. in Nursing from the Johns Hopkins University through the NIH Graduate Partnerships Program (GPP) in 2016. He completed his Predoctoral work in the laboratory of Dr. Leslie Biesecker at the National Human Genome Research Institute (NHGRI). He completed his Postdoctoral fellowship at NINR in the laboratories of Dr. Mary Engler (Vascular Biology Unit) and Dr. Katherine Meilleur (Neuromuscular Symptoms Unit) in 2019. His postdoctoral work combined basic and clinical research to develop or discover treatments for RYR1-related myopathies. He received the NIH Independent Research Scholar Award in the NINR Division of Intramural Research in 2020. Dr. Lawal is a board-certified nurse practitioner with a Master of Science degree as a Family Nurse Practitioner from Marymount University, and a Bachelor of Science in Nursing from Georgetown University. Dr. Lawal is a commissioned corps officer with the United States Public Health Service.

Selected Publications

  1. Todd JJ, Lawal TA, Witherspoon JW, Chrismer IC, Razaqyar MS, Punjabi M, Elliott JS, Tounkara F, Kuo A, Shelton MO, Allen C, Cosgrove MM, Linton M, Michael D, Jain MS, Waite M, Drinkard B, Wakim PG, Dowling JJ, Bönnemann CG, Emile-Backer M, Meilleur KG. Randomized controlled trial of N-acetylcysteine therapy for RYR1-related myopathies. Neurology. 2020;94(13):e1434-e1444.
  2. Lawal TA, Patankar A, Todd JJ, Razaqyar MS, Chrismer IC, Zhang X, Waite MR, Jain MS, Emile-Backer M, Witherspoon JW, Liu CY, Grunseich C, Meilleur KG. Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI. J Neuromuscul Dis. 2021;8(4):657-668.
  3. Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, Meilleur KG, Dirksen RT. Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. Skelet Muscle. 2020;10(1):32.
  4. Lawal TA, Todd JJ, Elliott JS, Linton MM, Andres M, Witherspoon JW, Collins JP, Chrismer IC, Tounkara F, Waite MR, Nichols C, Bönnemann CG, Vuillerot C, Bendixen R, Jain MS, Meilleur KG. Assessing Motor Function in Congenital Muscular Dystrophy Patients Using Accelerometry. J Neurosci Nurs. 2020;52(4):172-178.
  5. Lawal TA, Todd JJ, Meilleur KG. Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches. Neurotherapeutics. 2018;15(4):885-899.

Related Scientific Focus Areas

This page was last updated on Thursday, August 31, 2023