Faculty Profiles in Excellence

Stanford Medicine faculty are at the cutting edge of patient care, research, and education.
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I think this is a very exciting time. We have genetic treatments, gene modification treatments, gene replacement treatments, and a number of different ways to manipulate pathophysiologic pathways.

John Day, MD, PhD

Neurology, Pediatrics – Genetics, and Pathology

I am a professor of neurology and pediatrics here, and I am the director of the neuromuscular program. I run clinics for patients with neuromuscular disease in the pediatric and adult hospitals. These patients may have muscular dystrophy, ALS, or similar disorders that affect the nerves and muscles in the arms and legs.

Early on, I became interested in neurology to understand brain function, memory, and emotions. However, I found it easier and more tractable to understand how nerves worked in the arms, legs, and muscles, since we can get extremely precise. We can look at the sub-molecular level to determine why a specific region of a molecule is causing certain outcomes in patients, for example. It is satisfying to me to look at diseases and understand them on such a mechanistic level.

By understanding the effects of a genetic disease on muscle function, we can understand how that same molecular change leads to changes in the central nervous system. This gives us an interesting perspective on how brain disorders occur on a multi-systemic level. 

Therefore, we can’t focus on only the muscular problem. This is appropriate because our patients have complex issues themselves, not just related to their muscle disorder. Patients may have central nervous system abnormalities, for example. They may have cognitive or behavioral issues or sleeping problems, and we need to deal with patients in their entirety. We try to take a holistic approach to medicine, which I find very satisfying. 

What I like about working here is the collaborative spirit of the faculty. It’s a joy to work with people from a number of different realms. We have been able to establish meaningful relationships and collaborations with people clinically, in terms of providing optimal patient care, and in terms of research, as far as understanding underlying disease processes.

I think this is a very exciting time. We have genetic treatments, gene modification treatments, gene replacement treatments, and a number of different ways to manipulate pathophysiologic pathways. These diseases will be eradicated—not overnight, it is going to take time—but we are seeing the light of a very long tunnel. It’s all because of the teamwork.