Rare neurodegenerative diseases
Our mission is to advance knowledge within the field of Rare Neurological Diseases (RNDs) by fostering high-quality, innovative, and impactful research. Our vision is to significantly improve the care of patients suffering RNDs. The majority of RNDs is chronically progressive, leading to severe disability and significant health, neuropsychological and socioeconomic burden.
We leave no one behind. To develop diagnostic biomarkers and new drugs both for children and adults with RNDs, our group has a multidisciplinary background with both pediatricians and adult specialists involved. We closely collaborate with the Pediatric Hospital Inselspital Bern, PedNet Bern Team - Universitätsklinik für Kinderchirurgie, Universitätsklinik für Kinderheilkunde.
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.
Advocating for these particularly neglected, rare disease populations to improve the state of research and the clinical management of these patients has become one of the goals of our group. Tatiana Bremova-Ertl is the co-coordinator of the kosek-certified Swiss Network for Rare Neurological Diseases (Swiss RND-CNS). Matthias Gautschi is the president of the Swiss Group of Inborn Errors of Metabolism, SGIEM, representing also the MetabERN reference network.
