Frontiers of Science: Why are diseases tissue-specific? Lessons from mitochondrial diseases

Event Details

Frontiers of Science: Why are diseases tissue-specific? Lessons from mitochondrial diseases

Prof. Anu Wartiovaara, University of Helsinki, Finland

host: Eeva-Liisa Eskelinen (eeva-liisa.eskelinen@utu.fi)

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Mitochondrial dysfunction has shown out to be a common cause of human inherited disease, with amazing clinical variability, from neonatal fatal multisystem disorders to diabetes, neurodegeneration, dysfertility or tumorigenesis of adult age. Mitochondrial disorders show a wide variation in individual disease severity and progression. Up to date, only few therapy options are available to a limited number of patients. Wartiovaara research group focuses in clarifying the molecular basis of mitochondrial disorders, with a special emphasis on neurodegeneration. The group searches for disease genes in human sample materials, characterizes disease phenotypes and sets up DNA-based diagnosis, creates disease models based on identified gene defects and utilizes these models to study molecular pathogenesis and to test potential treatments. The specific focus is the disorders involving mitochondrial DNA (mtDNA) maintenance.

Start: Thursday, November 12, 2020 at 12:00

End: Thursday, November 12, 2020 at 13:15


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