Clinical Neurogenetics

Staff

• Secretariate: Sabrina Gilgen (Tel. 031 352 20 70, Sabrina.Gilgen@siloah.ch)
• Clinical Studies Coordinator: Jessica Köhli (Jessica.koehli@siloah.ch)
• Barbara Frei, master med.
• Sarah Vez, cand. med.
• Christine Capper, PhD
• Ralf reilman, MD, Guest researcher

Research focuses

• Huntington's disease: cognitive aspects, biomarkers, genetic modifiers
• Search for disease progression markers in large datasets
• Deep brain stimulation in Huntington's disease
• Molecular-genetic and clinical correlation in neurogenetic disorders

Methods

• Clinical neurological, neuropsychological and psychiatric testing
• Quantitative motor testing
• Large scale data analysis
• Observational cohort studies

Short description

The group on clinical neurogenetics is interested in diagnosis, genotype-phenotype correlative studies and management of neurogenetic disorders. The major disorders in the focus include Huntington’s disease, hereditary spastic paraplegia, mitochondrial cytopathies and several other, rare neurodegenerative disorders.

A major emphasis is in the context of the Swiss Huntington’s disease centre, which is devoted to investigation, management and patient care throughout the whole course of the disease from neurogenetic counselling of persons at risk, to ambulatory treatment and end of life treatment in a specific division devoted to HD patients. Present research on HD includes phenotype observation in global protocols, studies on neuropsychological aspects of the disease, investigations on treatment modalities, including during the end of life phase. Global collaboration includes centres joined in the European and in the Chinese Huntington’s disease networks. The last one allows cross-cultural and ethnic comparisons along with investigations of genetic modifiers.