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Mark Bothwell PhD

Physiology and Biophysics
Professor

Email: mab@uw.edu | Phone: 206.543.7924


Our laboratory has two main research interests. The first concerns the biological functions and functional mechanisms of growth factor receptors, which control the survival, proliferation, and differentiation of many types of cells including stem cells. We have a special interest in a growth factor receptor known as p75 neurotrophin receptor. P75 is called a ‘death receptor’ because activation of p75 typically causes cell death.

Our team’s second major interest is developing new model systems for studying human motor neuron diseases. These include Charcot-Marie Tooth type 2 (CMT2) and amyotrophic lateral sclerosis (ALS). Our approach uses human pluripotent stem cells. In some cases these are produced from patients with disease-causing mutations. In other cases, we use gene-editing techniques to introduce mutations associated with motor neuron disease into pluripotent stem cells produced from individuals without disease. We exposure these mutation-bearing cells in culture dishes to specific hormones and growth factors that cause them to differentiate into spinal cord motor neurons. These cultured motor neurons exhibit some of the properties of the diseased motor neurons responsible for CMT2 and ALS. Biochemical analysis of these cells reveals disease mechanisms and provides a test system to evaluate drugs and gene-therapy approaches for treating these diseases.