Linda Kusner, PhD, is a research professor of pharmacology, physiology, genomics, and precision medicine at the George Washington University School of Medicine and Health Sciences, as well as a member of the Myasthenia Gravis Rare Disease Network (MGNet). Her research focuses on the understanding of extraocular muscle physiology and response to disease, including myasthenia gravis (MG). Here, she shares her start in rare disease research, exciting discoveries, and future goals.
What inspired you to become a researcher in the rare disease space?
What inspired me is the biology behind the disease. Myasthenia gravis is complex in the etiology, the presentation, and the autoantibody profile. Discovery of what this disease is about leads to an understanding of how the immune system works and the many nuances of its response.
What has been your biggest “aha” moment as a scientist?
The biggest “aha” moment occurred while working with a complement inhibitor. The result of the complement inhibitor on the disease was remarkable. Although the therapeutic does not cure the disease, the inhibitor does provide an amazing result by limiting the destruction of the neuromuscular junction.
Can you tell us about a recent discovery and what it means for patients and physicians?
My recent discovery of survivin expression in the B cells from MG patients has provided a target for therapy. B cells are responsible for the production of antibodies that attack the neuromuscular junction and cause weakness in patients. If we can remove this specific population of cells from circulation, the patients can be stronger, and the immune system will not need to be destroyed by providing drugs that have a general target of suppression.
What role has MGNet played in your work?
The greatest role the consortium has played in my work is the availability of samples from patients with all subtypes of MG. With the biobanking of patients’ samples, I can think in the broader picture of whether the changes we observe are in all MG patients or specific to one subtype. The samples are available to assess this outcome. To have the biobank of MG samples is critical for research.
What do you see ahead for MGNet and your rare disease research?
I see the consortium as a mechanism of pulling together the resources and the expertise in order to understand and treat myasthenia gravis. Through the consortium, resources that are so rare—such as patient databases and biospecimens—can be available for research. The expertise of clinicians, research scientists, and biostatisticians can work together to maximize these resources in a cohesive experimental design. What I see ahead for myasthenia gravis research is more collaborative studies with a unified goal—to cure.
The Myasthenia Gravis Rare Disease Network (MGNet) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Office of Rare Diseases Research (ORDR). MGNet is funded under grant number U54NS115054 as a collaboration between NCATS and the National Institute of Neurological Disorders and Stroke (NINDS).