Niemann-Pick Type C: Two Genes - Many Clinical Pictures - One Unifying Biomarker
Watch our webinar “Niemann-Pick type C: Two Genes – Many Clinical Pictures – One Unifying Biomarker” hosted by Prof. Peter Bauer. Throughout the webinar, he will provide an overview of this rare genetic disorder and discuss diagnostic methods, such as biomarkers, whole exome sequencing, whole genome sequencing, and single gene analysis.
The webinar will also provide insights into the lessons learned at CENTOGENE regarding Niemann-Pick type C.
- History and Prevalence
- Diagnosis Strategies: Biomarker, Single Gene Analysis, WES, and WGS
- NPC: Lessons Learned
Dr. Peter Bauer, Chief Genomic Officer
Prof. Peter Bauer, MD, serves as CENTOGENE’s Chief Genomic Officer, where he combines clinical and medical understanding in genetic testing with an excellent knowledge of the latest scientific development, based on his extraordinary experience, especially in high-throughput genetic testing using next-generation sequencing.
Prof. 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. Additionally, 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.