Case Study: UCB improves rare disease variant interpretation and earlier diagnosis with Genomenon

UCB uncovers 95 TK2 variants with Genomenon to speed rare disease diagnosis

UCB, a pharmaceutical company focused on rare diseases, faced the challenge of diagnosing patients with the ultra-rare mitochondrial disease thymidine kinase 2 deficiency (TK2D). Many TK2D genetic variants were classified as variants of uncertain significance (VUS), creating a significant barrier to accurate and timely diagnosis. To address this, UCB partnered with vendor Genomenon and utilized their Mastermind platform to unlock real-world evidence from clinical literature.

Genomenon's solution combined AI-powered literature scanning with expert human curation to systematically identify and evaluate all known TK2 variants. This effort curated evidence for 95 published variants, approximately 40% of which were not previously represented in the public ClinVar database. The results had a direct measurable impact: 25% of these newly submitted variants were classified as pathogenic or likely pathogenic, and one specific VUS was successfully reclassified to likely pathogenic. This work helps fill gaps in public genomic databases, standardize interpretations, and ultimately accelerates accurate diagnosis for TK2D patients.

UCB