About RareMedEd

RareMedEd delivers evidence-based, clinically relevant education on rare diseases, enabling healthcare professionals to recognize, diagnose, and manage these conditions with confidence and compassion.

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.

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Case Studies

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FAQ

Acronyms: CTX: cerebrotendinous xanthomatosis; SLOS: Smith-Lemli-Opitz syndrome.

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