Genomenon and UCB Partner to Advance Thymidine Kinase 2 Deficiency Awareness and Diagnosis

Genomenon's Curation and Distribution of Variant Data to Global Clinical Communities Reduces Barriers to Genetic Diagnosis

ANN ARBOR, Mich., July 9, 2025 /PRNewswire/ -- Genomenon, a leader in genomic intelligence, today announced a strategic partnership with UCB to accelerate awareness, diagnosis, and research for thymidine kinase 2 deficiency (TK2d). Through this collaboration, Genomenon has used its unique combination of AI and team of genomic experts to curate and classify all published TK2 gene variants, making them freely available to the global clinical research community via the Mastermind Genomic Intelligence platform. To further expand access, Genomenon also made these curated variants available on ClinVar, the widely used public archive of reports on human variations classified by disease and drug responses, hosted by the National Center for Biotechnology Information (NCBI).

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 remains underrecognized due to its genetic complexity and rarity.

As part of this initiative, Genomenon submitted nearly 100 TK2 variants to ClinVar. Of these, approximately 40 percent of variants were not previously represented in ClinVar, including nearly 25 percent that were classified as pathogenic or likely pathogenic, significantly expanding the available knowledge base for clinicians and researchers. Genomenon's data also supports a likely pathogenic classification for one variant, which previous submitters had labeled as a variant of uncertain significance (VUS), demonstrating Genomenon's deep reach into the published literature that can be used to clarify ambiguous cases.  By integrating this curated data into both the Mastermind Platform and ClinVar, 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.

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. This initiative reduces barriers to genetic diagnosis by providing the global clinical and research communities with access to a publicly available, expertly curated knowledge base of genetic variants and reference-cited evidence tailored to specific 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.

"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. Making curated variant data accessible to all is a vital step toward improving patient outcomes and advancing the field of rare disease research."

"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."

About Genomenon
Genomenon is a leading genomic intelligence company transforming patient care by uncovering the genomic drivers of genetic disease and cancer. By combining the power of AI built on the world's premier genomic data set with genomic expertise, the company simplifies complex genetic data into actionable insights. Genomenon's integrated software, data, and services solutions empower clients with advanced patient diagnosis and precision medicine development.

Learn more at www.genomenon.com or follow us on LinkedIn.

SOURCE Genomenon