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Biomarkers for Lysosomal Storage Disorders

Dr. rer. nat. Claudia Cozma, MD
November 14, 2017

Specific Biomarkers for Lysosomal Storage Disorders: Enabling Diagnosis, Prediction and Therapy Monitoring

If you can´t see the webinar on Youtube, click here to watch it.

Interested in the latest innovations in metabolic disease diagnostics and assessing the effects of therapy? Do you want to learn more about biochemical genetic testing at CENTOGENE? Join this webinar to learn more about novel biomarkers for lysosomal storage disorders (LSDs).

An ideal biomarker plays an essential role in the early diagnosis, prediction and therapeutic monitoring of a specific disorder. Using a biomarker either as a diagnosis tool for lysosomal storage and other metabolic diseases, or in regular monitoring of the disease progression, can be of high clinical value for the patients. Biomarkers can be used as a measure of therapy efficacy and even as a guide for therapy dosage.

Webinar content:

  • Introduction to Biomarker development and analysis at CENTOGENE
  • Methodology/technology in CENTOGENE Biochemistry/Biomarker development
  • Comprehensive clinical reporting

Our speaker

Dr. Cozma studied Biochemistry and Ecology and Environment protection in Romania and has a Masters in Biotechnology. She completed her PhD in Analytical Chemistry at Konstanz University, Germany on the mass spectrometric structural studies of antibodies, namely epitope-paratope determination of polyclonal antibodies with application in Alzheimer disease. She has worked at Centogene since 2014 leading the development, validation and implementation of DBS-based biochemical tests, including enzymatic tests for lysosomal storage diseases and biomarker identification for rare diseases.