From gene identification to pathways of a neurological disorder, ataxia
发布时间 :2023-02-28  阅读次数 :7313

报告人:Margit  Burmeister






    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.



    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.