SCA3 research group
The SCA3 research group focuses on Spinocerebellar Ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD). SCA3 is an autosomal-dominantly inherited, late onset, neurodegenerative disorder caused by the expansion of a CAG trinucleotide repeat within the ATXN3 gene. This results in an expanded polyglutamine repeat in the encoded ataxin-3 protein. Thus, SCA3 belongs to the group of polyglutamine diseases consisting of other types Spinocerebellar ataxias as well as Huntington's disease. SCA3 is the most common autosomal-dominantly inherited ataxia worldwide. We aim to dissect specific pathomechanims of the disease, to identify novel treatment targets for neurodegenerative disorders and to assess them preclinically in our specific animal models.
List of GRT projects
- Preclinical assessment of gene therapy approaches
- Identification of novel treatment strategies and targets
GRT expertise
- Generation and characterization of transgenic animal models
- Preclinical testing of treatment strategies
Main GRT methods applied in the lab
- Behavioural phenotyping of mouse models
- Generation of cellular assays
- Biochemical characterization of pathomechanisms
- Identification of genetics modifiers
Ongoing and requested funding:
Federal Ministry of Education and Research, National Ataxia Foundation, Ataxia UK, German Academic Exchange Service (DAAD), European Commission, Fritz Thyssen Foundation, Deutsche Heredo-Ataxie Gesellschaft e.V. (DHAG) etc.