Genomenon, a leader in genomic intelligence, has announced a strategic partnership with UCB to accelerate awareness, diagnosis, and research for thymidine kinase 2 deficiency (TK2d), a rare mitochondrial disease that remains underrecognized due to its genetic complexity and rarity. The collaboration leverages Genomenon's unique combination of AI and genomic expertise to curate and classify all published TK2 gene variants, making them freely available to the global clinical research community.
Comprehensive Variant Curation Expands Clinical Knowledge Base
As part of this initiative, Genomenon submitted nearly 100 TK2 variants to ClinVar, the widely used public archive of reports on human variations hosted by the National Center for Biotechnology Information (NCBI). The submission represents a significant expansion of available knowledge, with approximately 40 percent of variants not previously represented in ClinVar. Notably, nearly 25 percent of the submitted variants were classified as pathogenic or likely pathogenic, substantially enriching the resources available to clinicians and researchers.
The curation process also demonstrated Genomenon's deep reach into published literature by providing evidence to support a likely pathogenic classification for one variant that previous submitters had labeled as a variant of uncertain significance (VUS). This reclassification exemplifies how comprehensive literature analysis can clarify ambiguous cases and improve diagnostic confidence.
Addressing Critical Gaps in Rare Disease Diagnosis
TK2d is a rare, autosomal recessive mitochondrial disease primarily characterized by progressive and severe myopathy. Early and accurate diagnosis is critical to improving outcomes, but the disease's genetic complexity and rarity create significant diagnostic challenges for clinicians worldwide.
"People living with TK2d and their families face extraordinary challenges due to the rarity and complexity of this disease," said Sarah Chang, Ph.D., medical strategy lead at UCB. "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."
Genetic Disease Sponsorship Program Reduces Diagnostic Barriers
UCB's participation is part of Genomenon's Genetic Disease Sponsorship Program, which supports leading biopharmaceutical companies by curating and distributing comprehensive variant data for rare diseases. The program ensures that curated variant data is submitted to both ClinVar and the Mastermind Platform, maximizing visibility and impact for rare disease awareness and diagnosis.
By integrating curated data into both platforms, Genomenon and UCB are empowering clinicians and researchers worldwide with the most comprehensive and up-to-date TK2 variant information, supporting faster and more accurate diagnoses.
Transforming Patient Care Through Genomic Intelligence
"Our partnership with UCB is about removing barriers to genetic diagnosis and ensuring that no patient is left in diagnostic limbo," said Mike Klein, CEO of Genomenon. "By making expertly curated TK2 variant data available in both Mastermind and ClinVar, we are not only expanding access to critical evidence but also helping to resolve VUS. This work empowers clinicians to make more confident diagnoses and ultimately improves care for individuals living with rare diseases."
The collaboration represents a significant step toward addressing the diagnostic challenges faced by patients with rare genetic diseases, where comprehensive variant databases and expert curation can make the difference between diagnostic uncertainty and accurate identification of disease-causing mutations.
