CRND Clinical-Translational Seminar April 27, 2012 - Robert Erickson, M.D.

April 27, 2012 - Robert P. Erickson, M.D., the Holsclaw Endowed Professor in Genetics and Inherited Diseases, Departments of Pediatrics and Molecular and Cellular Biology, University of Arizona COM, Tucson, Arizona.

Dr. Robert P. Erickson is a leader in his field and his service is recognized at state, national and international levels. He has served on the editorial boards of many publications and has current appointments to the Journal of Applied Genetics and Reviews in Mutation Research. He is the author of 4 books and over 400 scholarly articles, reviews, and other publications. Yet, although Erickson has long and distinguished career in medicine, he is light years away from resting on his plentiful laurels. Indeed, after meeting him, one wonders whether the fire of Dr. Erickson’s passion for new discovery and teaching is visible by satellite.

Erickson is both a pediatrician and research scientist. The focus of his research centers on the creation of animal models for genetic diseases including Niemann-Pick C disease. Dr. Erickson’s purpose in visiting the CRND was twofold: to see the data our researchers have generated using a mouse model he has worked closely with (testing drug compounds) and to share with students his experience investigating pulmonary dysfunction in the Npc1 transgenic mouse model.

To begin, Erickson’s lecture briefly reviewed NP-C disease, focusing on the configuration of the NPC1 protein and its function in regulating cholesterol transport in cells. Erickson explained the role of the Npc1 mouse model in investigating the disease and its pathophysiology. He also discussed the process of translational research in studying therapeutic agents in animal models. Erickson outlined several behavioral tests his lab employs to identify abnormal neurological function in Npc1 mice. Along the way, Erickson highlighted the literature, which has progressively added new pieces to a puzzle researchers have been trying to solve since the Niemann-Pick diseases were first classified in the early twentieth century.

Erickson’s discussion of his 2011 paper (which had been assigned for class reading), “Pulmonary function and pathology in hydroxypropyl-beta-cyclodextin-treated and untreated Npc1-/- mice” (Muralidhar A et al. Mol Genet Metab. 2011 Jun;103(2):142) afforded students an opportunity to ask questions about a fairly novel area of investigation. Erickson’s group looked at the effects of a drug, hydroxypropyl-beta-cyclodextin (HPBCD) on pulmonary disease in Npc1 mice. This drug has been associated with positive effects in the brain and liver, but in the context of Erickson’s experiment, HPBCD did not make a significant improvement in diseased lungs of Npc1 mice. (Note, the paper invites further exploration of HPBCD treatment in circumstances apart from those in this study design).

According to ND’s Dr. Md. Suhail Alam, an NP-C investigator, Dr. Erickson’s paper is a significant contribution because of its particular focus on pulmonary dysfunction, which is not as well explored as brain dysfunction in NP-C. In addition, because pulmonary dysfunction appears to be a leading cause of mortality and morbidity in NP-C patients, advancing research in this area is critical.

 

 

 

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