Researcher Spotlight: The Johnson Lab

Welcome to our next Researcher Spotlight, where we highlight our research partners and the work that they are doing to develop treatments for rare and ultra-rare diseases. 

Meet Nicholas Johnson, MD, MSCI, FAAN from Virginia Commonwealth University School of Medicine! In this conversation, we discuss the projects Dr. Johnson is involved with and his lab’s partnership with Cure Rare Disease. 

Dr. Johnson is an Associate Professor of Neurology and Human and Molecular Genetics and Vice Chair of Research in Neurology at Virginia Commonwealth University with a focus in inherited neuromuscular disorders. He received his undergraduate degree from the University of Arizona in molecular and cellular biology and psychology. He obtained his medical degree at the University of Arizona and completed his neurology residency and a combined fellowship in neuromuscular medicine and experimental therapeutics at the University of Rochester. 

What does the Johnson Lab research and what projects are you involved in?

Dr. Johnson is a member of the Center for Inherited Muscle Research (CIMR), a translational research center dedicated to developing therapeutics for patients with genetic muscle diseases. The center has 2 research networks: The Myotonic Dystrophy Clinical Research Network (DMCRN), which he co-leads, and the GRASP-LGMD consortium, which he leads. The GRASP-LGMD consortium focuses on developing clinical outcomes and biomarkers in the limb girdle muscular dystrophies, and the goal of the DMCRN is to develop clinical outcomes and biomarkers in the myotonic dystrophies. Both networks include about 28 sites across the United States, Europe, Canada, and New Zealand that perform natural history studies to develop clinical endpoints. His laboratory is focused on biomarker development, disease pathogenesis, and development of a TCAP gene replacement therapy.

What projects is the Johnson Lab working on in collaboration with Cure Rare Disease?

The Johnson Lab has partnered with CRD to develop a gene replacement therapy for the TCAP gene, which codes for the protein telethonin. Mutations in this gene result in an ultra-rare form of muscular dystrophy known as Limb girdle muscular dystrophy type 2g (LGMD2g). This therapeutic will use a next-generation AAV vector with the goal of being able to better introduce the treatment into the muscle and reduce liver toxicity.

LGMD2i is caused by mutations in the FKRP gene, which codes for fukutin-related protein.

Why did you choose to work with CRD?

It is critical to advance these disease-modifying therapeutics and bring them to patient communities. One of the challenges for rare and ultra-rare genetic diseases is that they have limited venues to be advanced into clinical trials, and CRD fulfills the mission of connecting researchers to work on these technologies to take from bench to bedside. 

Where do you hope to see the future of gene therapy in 5 to 10 years?

We are currently at the cusp of having the technology to modify or replace genes for individuals with genetic disorders. The research community must find ways to move gene therapies, including those for rare and ultra-rare diseases, into the clinic. The hurdle is to develop a platform to incentivize both researchers and companies to enter into this space. The hope is that 5 to 10 years from now, we have achieved sufficient knowledge and expertise to advance this process forward for all individuals. 

We appreciate Dr. Johnson for sharing his thoughts and explaining the work being done in his lab. Through the lab’s devoted efforts, they are making significant progress towards developing therapeutics for people with rare and ultra-rare neuromuscular diseases and we are excited to be working with them to achieve this goal.