Data on CYP27A1 Variants Available to Genetic Testing Labs Around the World
Ann Arbor, MI - February 6, 2025 - Genomenon, Inc., a leading provider of genomic intelligence solutions, has announced a strategic partnership with Mirum Pharmaceuticals, Inc. (NASDAQ: MIRM) to improve the awareness and diagnosis of Cerebrotendinous Xanthomatosis (CTX).The collaboration will focus on CYP27A1 gene variants, making critical genetic data accessible to testing laboratories worldwide.
CTX is a rare inherited metabolic disorder characterized by variants in the CYP27A1 gene, which plays a crucial role in bile acid synthesis. This genetic defect leads to the toxic accumulation of cholesterol and cholestanol deposits throughout the body, particularly in the brain, tendons, and other tissues. If left undiagnosed, CTX can cause progressive neurological damage, cognitive decline, early-onset cataracts, chronic diarrhea, and painful tendon masses called xanthomas. Early diagnosis is particularly critical as CTX is treatable, and prompt intervention can prevent or minimize many of these devastating complications. Despite its serious nature, CTX often goes unrecognized or is misdiagnosed due to its varied presentation and the complexity of its symptoms, making enhanced genetic testing capabilities vital for patient outcomes.
The partnership will leverage Genomenon's network of over 2,000 clinical laboratories across 140+ countries, providing them with crucial CTX-specific genetic variant data to increase awareness and enable faster, more accurate diagnoses. It will also utilize Genomenon's Mastermind Genomic IntelligencePlatform to deliver comprehensive disease-specific genomic datasets. These variant landscapes will be classified according to American College of MedicalGenetics (ACMG)/Association for Molecular Pathology (AMP) guidelines, enhancing the understanding of CTX's genetic basis.
“Early and accurate diagnosis is crucial for individuals living with genetic diseases, like CTX, and enhanced genetic data access will significantly help with the diagnostic journey,” said Dr. Mark Kiel, CSO and Co-founder of Genomenon. "Providing easy access to critical evidence enables faster, more accurate interpretation of genetic tests, thus promoting disease awareness and increased diagnostic rates."
For more information visit www.genomenon.com
About Mirum Pharmaceuticals
Mirum Pharmaceuticals, Inc. is a biopharmaceutical company dedicated to transforming the treatment of rare diseases affecting children and adults.
To learn more about Mirum and its therapies, visit mirumpharma.com and follow Mirum on Facebook, LinkedIn, Instagram and Twitter (X).
The Real-world Evidence to validate a drug target, identify trial-eligible patients, or change a diagnosis already exists. It is buried in 39 million biomedical articles, locked behind paywalls and supplemental files most researchers never find.
Genomenon closes that gap. Fit-for-purpose AI-powered search reads 11.2 million full-text papers and 3.7 million supplemental datasets. Eighty expert scientific curators validate every finding. The result is structured, traceable, regulatory-grade Real-World Evidence at the genetic variant and patient level. Loxo@Lilly used Genomenon to add 73 variants to the RET label. In a head-to-head, Genomenon identified 83% more rare disease patients than ChatGPT plus OpenEvidence.
250+ diagnostic labs and 75 biopharma programs rely on Genomenon as the evidence layer behind precision medicine.
