- Niemann-Pick type C disease often overlooked: fast & efficient screening programs
Niemann-Pick type C disease often overlooked: fast & efficient screening programs
Are you interested in learning more about Niemann-Pick type C disease?
Prof. Peter Bauer, CSO of CENTOGENE, introduces you to NP-C and discusses the importance of a robust biomarker for the diagnosis and monitoring of this disease.
Discover how our screening programs for NP-C can enable diagnosis, prediction and therapy monitoring for your patients.
- CENTOGENE’s integrated diagnostic concept for rare diseases
- The challenge with rare variant classification and medical interpretation
- The value of biomarkers in rare diseases – biomarkers in Niemann-Pick type C disease
Prof. Peter Bauer received his board certification in Human Genetics in 2006 and headed the molecular diagnostic laboratory at the Institute of Medical Genetics and Applied Genomics at the University Hospital Tübingen. Moreover, he is Vice President of the German Society of Neurogenetics (DGNG). Peter has authored more than 140 publications in neurogenetics, oncogenetics, cardiogenetics and sequencing technology and is leading author of the ‘Guidelines for diagnostic next-generation sequencing’ (Eur. J. Hum. Genet. 2016).