What models and services are available from JAX in behavioral assessments?
Beyond cognitive assessment, we have a very long list of other behavioral attributes that we can study, from anxiety and sensory evaluations to motor movement and pain. Looking at behavior is one thing, but it’s another to look at it in a way that provides an accurate, reliable assessment of what’s going in the model of interest and relevant to the mechanism of action of the therapeutic being tested. We approach our studies with standardized operating procedures, we use appropriate controls required by each study, and we provide excellent training to our scientists to reduce any confounding variable that might make result interpretation challenging.
How about muscular assessments? What does JAX offer there?
Again, we have a long list of clinically relevant evaluations, but one assessment we offer is electromyography. This is a diagnostic technique used in the clinic to evaluate and record electrical activity produced by skeletal muscles, and we use it in our ALS models to examine compound muscle action potentials. This allows us to visualize and quantify the number of muscle fibers that are innervated by motor axons descended from the spinal cord within the central nervous system.
Please describe one or two of the most interesting and recent research findings in neuroscience at JAX.
Our Associate Director of Neurobiology, Laurent Bogdanik, PhD, recently characterized a model of myotonic dystrophy, the HSA LR20b model donated to JAX by Charles Thornton, MD, who is a pioneer in the myotonic dystrophy field. He found that the mRNA-splicing abnormalities, a hallmark pathology of myotonic dystrophy, occurs in these mice at a younger age than other disease pathologies. By using younger mice, you can get answers on the efficacy of your therapeutics quickly. Thus, we can take a mouse model and show that it has clinically relevant phenotypes that can be interrogated, at a young age, which is immensely helpful in drug development.
What future objectives in neuroscience at JAX seem the most exciting to you?
ALS and muscular dystrophy are well-known rare diseases, but there are hundreds of others that really don’t get much attention. We’re seeing increased interest in these lesser-known rare diseases, and being able to take what we’ve learned from ALS and muscular dystrophy and apply it to these has been very rewarding. This allows us to really support the evaluation of therapeutics for these diseases, such as gene therapy. Here, the goals truly become about promoting human health and finding a viable treatment for disease. That’s what I’m most excited about in working with JAX.