My research focuses on rare neurodegenerative diseases. In particular, I am interested in inborn errors of metabolism, such as lysosomal storage disorders M. Niemann-Pick, type C, or GM2-Gangliosidoses (M. Tay-Sachs, M. Sandhoff), and cerebellar ataxias (e. g. Ataxia telangiectasia). Of interest are also balance disorders, e. g. dizziness in the elderly.
Rare diseases are often neglected in clinical practice, due to their phenotyping heterogeneity, and complexity. Establishing sensitive and specific biomarkers in these rare disorders leads to earlier diagnosis / recognition of the condition, and (if available) avoids delays in access to disease-modifying treatments. Well-established biomarkers also capture the disease metrics in the disease course, and can be used as surrogate endpoints in clinical trials. The eyes are a promising biomarker, as they are easy to examine, and provide a convenient access to study the brain health.