CRND Clinical-Translational Seminar April 13, 2012 - Heiko Runz, MD.

April 13, 2012 - Dr. Heiko Runz presented a seminar: "Niemann-Pick type C disease - from bedside to bench and back." Pictured here with Dr. Kasturi Haldar and the class of Developing Health Networks in Rare and Neglected Diseases. (Photo, Will Wall, 2012)

Dr. Runz's lecture addressed his clinical experience as a physician-scientist working with NPC and Lysosomal Storage Disorders patients in his clinic in Germany. Additionally, he discussed his research into a host of issues with NPC diagnostic testing, gene variants, mutational analysis, and population estimates. Dr. Runz described the span of phenotypic variability in NPC, the variations in observable molecular and clinical characteristics, which can make diagnosis difficult and which his research is seeking to address.

 

 

 

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