Centogene: Unique Genetic Variants in World's Largest Niemann-Pick Type C1 Disease Cohort

 

• Inclusion of 602 patients from 47 countries represents the world’s largest and most heterogeneous Niemann-Pick type C1 disease (NPC1) cohort
• Study identified 287 unique Pathogenic/Likely Pathogenic (P/LP) variants, 73 of which had never been described before
• Data reveals novel genotype-phenotype associations and suggests utility of biomarker N-palmitoyl-O-phosphocholineserine (PPCS) to indicate disease severity and progression
• NPC1 is a rare and fatal autosomal recessive disorder, with no effective treatment to date

https://www.biospace.com/article/releases/centogene-biodatabank-reveals-unique-genetic-variants-in-world-s-largest-niemann-pick-type-c1-disease-cohort-/