第64回日本神経学会学術大会

講演情報

ホットトピックス

[HT-03] ホットトピックス03

2023年6月1日(木) 08:00 〜 09:30 第02会場 (幕張メッセ国際会議場 2F 国際会議室)

座長:池田 佳生(群馬大学大学院医学系研究科脳神経内科学),髙橋 祐二(国立精神・神経医療研究センター脳神経内科)

[HT-03-1] The ATXN2 complex as a therapeutic target for spinocerebellar ataxias and ALS

Stefan M M. Pulst (University of Utah)

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Stefan M. Pulst, MD Dr med, is Chair of the Department of Neurology and Professor of Neurology and Human Genetics at the University of Utah in Salt Lake City. He trained in neurology in Hannover, Germany, and at the Harvard Longwood Neurology Program in Boston. Research in the Pulst laboratory focuses on degenerative ataxias, ALS, and Parkinson disease. His group is identifying genes that cause neurodegenerative diseases and is using genomic and molecular genetic tools to understand cell-type specific neurodegeneration. This is aided by modeling of the disease processes in transgenic and knockout mouse models. An ASO directed at ATXN2 that his group developed in collaboration with IONIS Pharmaceuticals is currently in a phase 1 trial in ALS patients. His recent work has focused on the ATXN2 RNA/protein complex and the analysis of proteins in this complex as therapeutic targets. Pulst is recipient of the George Cotzias prize from the American Academy of Neurology and became an elected fellow of the American Association for the Advancement of Science in 2020. After more than a decade as chair of the AAN Science and then the Meeting Management Committee, he now serves as the founding and current editor of Neurology® Genetics.

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