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Niemann-Pick Type C

Two Genes - Many Clinical Pictures - One Unifying Biomarker

March 03, 2020
3 p.m. CEST

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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.

Key Topics:

  • History and Prevalence
  • Physiopathology
  • Diagnosis Strategies: Biomarker, Single Gene Analysis, WES, and WGS
  • NPC: Lessons Learned
  • Summary

Our Speaker

CENTOGENE Webinar Speaker Peter Bauer

Prof. Peter Bauer, M.D.

Chief Genomic Officer, CENTOGENE

Prof. Peter Bauer, M.D., serves as CENTOGENE’s Chief Genomic Officer, where he combines […]

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