Research
Topic: Our research activities encourage the development of preclinical translational models of congenital myopathies related to skeletal muscle excitation-contraction coupling defects 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.
Research Protocols
Dr. Lawal is currently developing his clinical protocols and has collaborated as an associate investigator on the following:
- NCT04141670: S 48168 (ARM 210) for the Treatment of RYR1-Related Myopathies (RYR1-RM) (20-N-0005)
- NCT02362425: Antioxidant Therapy in RYR1-Related Congenital Myopathy (RYR1) (15-NR-0072)
Experience
- Serves as an officer within the United States Public Health Service (USPHS)
- Became an NIH Independent Research Scholar in 2019
- Joined NINR in 2017 as a post-doctoral fellow with the Neuromuscular Symptoms Unit where he served as an Associate Investigator in a Phase I/II clinical trial on the efficacy of N-acetylcysteine in decreasing oxidative stress and improving physical endurance in RYR1-RM
Accomplishments
- 2021 NINR Director’s Service Award
- 2019 NIH Independent Research Scholar Award
- 2011 NIH Graduate Partnerships Program (GPP) Award
Education
- PhD in Nursing, Johns Hopkins University, Baltimore, Maryland
- MS in Family Nurse Practitioner, Marymount University, Arlington, Virginia
- BS in Nursing, Georgetown University, Washington, DC
- BS in Biology, University of Maryland, College Park, Maryland
Certification
- Family Nurse Practitioner