Lysosomal storage disorders research to be presented at the 14th annual WORLDSymposium

CENTOGENE, the worldwide leader in diagnosing, profiling, tracking and elucidating rare diseases for patients, clinicians and pharmaceutical partners, today announced that results from its scientific research focused on biomarkers and genetic data for rare hereditary diseases will be the core of four poster presentations at the 14th Annual WORLDSymposium™. The conference, which is being held February 5-9, 2018 in San Diego, CA, presents the latest information from basic science, translational research and clinical trials for lysosomal diseases.

The following posters will be presented on Tuesday, February 6, 4:30-6:30 pm PT.

  • “Lyso-SM-509 as highly sensitive biomarker for Niemann-Pick A/B and C diseases: a three years experience”
  • “Biochemical and genetic characteristics of the largest world-wide Fabry cohort reported to present”
  • “Glucosylphingosine concentration in the blood of Gaucher patients reflects the severity of GBA mutations – data from a large global cohort”
  • “Quantification of Glucosylshingosine (Lyso-Gb1) for the diagnosis and monitoring of Gaucher disease”

“Our mission at CENTOGENE is clear—to help identify patients with rare diseases at the earliest possible time and help accelerate drug discovery and development of orphan drugs worldwide,” said Professor Arndt Rolfs, M.D., CEO of CENTOGENE. “The data we will be presenting at this conference will support the development of personalized therapies of the future and further validate our capabilities.”