CV

Short presentation

Main Research Areas

Molecular genetics of inherited, neurodegenerative disorders, especially Huntington Disease. Investigations of genetic and cellular factors influencing the pathological mechanism and disease progression.

Practical Laboratory Experience

Basal DNA-techniques: PCR, gel electroforesis, RFLP-, STR- and VNTR-analyses. Screening for mutations: SSCP analysis, DNA-sequencing. Expression analysis: Site directed mutagenesis, cloning in E.Coli, in vitro expression, in vitro antisense techniques, cell culture, transfection, Western blotting.

Research profile and current research programme

The group is mainly studying basic molecular genetic, pre-clinical and clinical aspects of neurogenerative disorders including the possibilities of treatment of this group of disorders by gene therapy. The hereditary neurodegenerative disorders of interest are the trinucleotide repeat disorders with main focus on Huntington's disease and spinocerebellar ataxias, as well as the prion diseases, spastic paraplegia, and hereditary forms of Parkinson an Alzheimer diseases. The trinucleotide repeat diseases are characterized by a gain of function of the mutant form of the proteins leading to death of CNS neurons in areas specific for each disorder. Neither the physiological functions nor the pathological roles of the respective proteins are known; a straightforward strategy for prevention of the pathological processes leading to the symptoms would therefore be to stop or down-regulate the expression of the mutant protein. As a model, this group is studying the effect of antisense down-regulation of huntingtin, the protein involved in Huntington's disease.