报告主题：From gene identification to pathways of a neurological disorder, ataxia
报告人：Margit Burmeister
邀请人：李卫东教授
时间：2023年3月2日（周四）10:00-11:00
地点：Bio-X研究院闵行校区生物药学1号楼105会议室
报告人简介：
Dr. Burmeister received her Ph.D. in Human Molecular Genetics from EMBL/University of Heidelberg. After postdoc at UCSF, where she co-invented Radiation Hybrid mapping with David Cox and Richard Myers, since 1991, she has been on faculty at University of Michigan, where she directs the Bioinformatics graduate program. Her research on neurogenetics, which involves international collaborations in Turkey, Shanghai and Beijing, has identified over a dozen genes involved in Mendelian neurological disorders. In complex psychiatric brain disorders, her work focuses on gene environment interaction with a focus on depression.
报告摘要：
Ataxia is a neurological symptom that can be caused by mutations in > 500 different genes. In >150 cases and families with ataxia that we recruited, we have identified both known and novel genes, including ATCAY, KCND3, CWF19L1, ATG5, COQ4, VPS13D, and most recent a repeat in FGF14 causing SCA27B, a newly identified repeat which turns out to be the most common cause of late onset ataxia.
Pathways leading to ataxia are highly heterogeneous, from channelopathies over mitochondria to autophagy defects. Using a machine learning network analysis, we have placed the > 500 different ataxia-associated genes, many of which are expressed in all cells, into more than 10 distinct pathways. The lack of specificity may be explained by the extraordinary vulnerability of cerebellar Purkinje cells.
