Published on November 8, 2012 at 3:55 AM
State-of-the art sequencing technology provides the opportunity to analyze many genes or gene sequences simultaneously. Both the finding of recognized genetic alterations and the discovery of new ones is now easier, faster and cheaper. For rare neurodegenerative and neuromuscular diseases, diagnosis is no longer like searching for a needle in a haystack. Neuromics makes it possible to examine every straw in the haystack individually.
The University of Tübingen's Institute of Medical Genetics and Applied Genomics (Professor Olaf Riess, Professor Peter Bauer) and the Center for Neurology (Professor Ludger Schöls) have already made important progress in the diagnosis and treatment of the ataxia group of diseases and spastic spinal paraplegias. Diagnostic panels have been developed for both, enabling the analysis of more than 50 genes in parallel for disease-causing genetic alterations. For some patients, establishing the disease's genetic bases can have implications for treatment - and for all patients, it at least means they know the cause of their illness, and can have important implications for other family members.
Source University of Tübingen