Kathryn R. Moss
It is remarkable that both increased and decreased dosage of the peripheral myelin protein 22 (PMP22) gene causes peripheral demyelinating neuropathy. PMP22 duplication causes Charcot-Marie-Tooth disease type 1A (CMT1A), and PMP22 deletion causes hereditary neuropathy with liability to pressure palsies (HNPP). Charcot-Marie-Tooth disease (CMT) is the leading cause of inherited peripheral neuropathy, with a prevalence of 1:2,500, and CMT1A and HNPP account for the majority of CMT cases (~62%). CMT1A and HNPP symptoms vary regarding age of onset and severity, but both diseases cause peripheral nerve deficits, which most commonly include muscle weakness, reduced sensation and neuropathic pain in distal limbs. Although CMT1A and HNPP dramatically impact patient quality of life and burden the health care system, only supportive treatments are currently available to patients. My research in the Höke lab has focused on advancing our understanding of CMT1A and HNPP pathophysiology and identifying pathomechanisms causing these diseases in order to facilitate therapy development. My results suggest that primary myelin dysfunction drives CMT1A pathogenesis because muscle atrophy occurs prior to evidence of secondary axon degeneration. Additionally, I identified Schmidt-Lanterman incisure density and organization defects in CMT1A myelin that appear to begin during development and are likely detrimental to peripheral nerve function. These findings provide important insight into CMT1A pathogenesis and reveal novel targets for designing candidate therapeutics.
Questions & Answers
Why did you choose Johns Hopkins for your work?
The neuromuscular division of the Department of Neurology at Johns Hopkins is one of the best places in the world to train as a scientist studying peripheral nerve diseases. The abundant resources available at Johns Hopkins to support my research were also a draw.
What does receiving this award mean to you personally and professionally? Do you have any connection with the particular award you received?
I am honored to have been selected to receive the Helen B. Taussig Research Award, and I am grateful to be recognized as I am nearing the completion of my postdoctoral studies at Johns Hopkins. My research is not directly related to Taussig’s work in pediatric cardiology, but she is an inspiration given that the goal of my research is to facilitate therapy development for CMT1A and HNPP.
What contributed to your project’s success?
My project has been successful thanks to my adviser, Dr. Ahmet Höke, amazing colleagues in the neuromuscular division, critical collaborations with cell adhesion experts, access to cutting-edge equipment through Johns Hopkins core facilities and my determination to improve the lives of patients with CMT1A and HNPP.
What thoughts do you have about Young Investigators’ Day itself, as a celebration of the roles student and fellows play in research at Johns Hopkins?
Young Investigators’ Day is a wonderful tradition that celebrates the discoveries of up-and-coming scientists and brings the Johns Hopkins community together to exchange new ideas and technology. I am excited and honored to participate in the Young Investigators’ Day program this year.
What has been your best/most memorable experience while at Johns Hopkins?
Immersing myself in the field of peripheral nerve disease research and being surrounded by experts in this field have been the highlights of my postdoctoral studies at Johns Hopkins.
What are your plans over the next year or so?
I am planning to transition to an independent faculty position in the near future. My research program will be focused on understanding how altered PMP22 gene dosage causes peripheral nerve dysfunction and identifying novel therapeutic targets for CMT1A and HNPP.
Tell me something interesting about yourself that makes you unique. Do you have any special hobbies, interests or life experiences?
My research interests stem from my personal history with CMT1A as a patient. This experience has been the primary driver of my scientific career and has provided me with unwavering motivation and a unique perspective for tackling key research questions.