UCB + Genomenon: Genetic Disease Sponsorship Case Study
Impact at a Glance
108 TK2 variants curated, classified and submitted to ClinVar
Expanding the knowledge base for TK2 deficiency (TK2d) beyond what was available in ClinVar and other public resources.
46% increase in P/LP TK2 variants in ClinVar
ClinVar previously contained 63 P/LP TK2 variants. By submitting 29 additional pathogenic and likely pathogenic variants that were not previously in ClinVar, Genomenon increased that total by 46%.
Reduced uncertainty
A previously uncertain variant was reclassified as likely pathogenic, enabling faster and more accurate diagnosis.
Publicly accessible data
Evidence made freely available in ClinVar and Mastermind ensures global visibility and consistent use across labs.
The Customer Challenge
TK2d is an ultra-rare, progressive mitochondrial myopathy characterized by proximal muscle weakness and severe respiratory involvement. Respiratory failure is a leading cause of mortality, especially with early onset. Overlapping symptoms with better-known neuromuscular diseases and frequent variants of uncertain significance (VUS) on genetic tests prolong the diagnostic odyssey. Because of its rarity and genetic complexity, TK2d remains underrecognized and underdiagnosed, with many clinically observed variants missing or underrepresented in ClinVar.
UCB set out to raise disease awareness and shorten time-to-diagnosis by ensuring that every literature-supported TK2 variant and its evidence could be found, trusted, and used by the global community.
The Genetic Disease Sponsorship Approach
Extract literature-driven real-world evidence: Genomenon used AI-powered search and expert review to scan the biomedical literature and curate TK2 variants according to ACMG/AMP guidelines.
Build the TK2 variant knowledgebase: 108 TK2 variants were curated and submitted to ClinVar, including 46 where Genomenon is the sole ClinVar submitter (29 pathogenic or likely pathogenic, 15 VUS, 2 benign). ClinVar now contains 92 pathogenic or likely pathogenic TK2 variants, with 29 P/LP variants provided exclusively by Genomenon. A previously uncertain variant was reclassified as likely pathogenic.
Share the results with the world: Variants and supporting evidence were made freely available in Genomenon’s Mastermind Genomic Intelligence Platform and submitted to ClinVar, ensuring the data is accessible for broad community use.
Maintain a living knowledgebase: Annual updates ensure new findings and reclassifications are incorporated and shared with the global community.
Customer Voice
“People living with TK2d and their families face extraordinary challenges due to the rarity and complexity of this disease. By partnering with Genomenon, we are helping to close critical knowledge gaps, accelerate accurate diagnosis, and support the global research community in their efforts to bring hope and new possibilities to those affected by TK2d. Making curated variant data accessible to all is a vital step toward improving patient outcomes and advancing the field of rare disease research.”
Sarah Chang, Ph.D., Medical Strategy Lead, UCB
Impact
Improved diagnostic confidence: Reclassification of VUS to likely pathogenic accelerated diagnosis.
Sharing knowledge globally: Evidence is distributed openly to clinicians and researchers worldwide.
Consistent lab interpretation: A robust, standardized knowledgebase reduces variability in testing.
Sustained awareness: Annual updates ensure TK2d variant data remains current and actionable.
About Genetic Disease Sponsorship
Genetic Disease Sponsorship enables biopharma partners to promote awareness and increase diagnostic rates by underwriting the creation, curation, and public distribution of a comprehensive, literature-driven variant knowledgebase, kept current over time and made accessible to clinicians and researchers globally.
