Disease Areas

Awareness and education are essential for early diagnosis and meaningful management of rare diseases.

Learn more about clinical presentation, diagnosis, and biomarkers. View modules to hear from distinguished experts in each disease area.

Disease Areas

CTX

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder caused by biallelic pathogenic variants in the CYP27A1 gene, leading to defects in synthesizing the primary endogenous bile acids.

SLOS

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder caused by biallelic pathogenic variants in the DHCR7 gene, leading to defects in cholesterol synthesis and lipid metabolism.