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Genomenon and UCB Team Up to Enhance TK2 Deficiency Awareness

In a groundbreaking initiative, Genomenon, a leading force in genomic insights, has formed a partnership with UCB, a global biopharmaceutical company, to heighten awareness and improve the diagnostic processes for Thymidine Kinase 2 deficiency (TK2d). This collaborative effort aims to tackle the challenges surrounding this rare genetic disorder, which is known for its complexity and underrecognition within the medical community.

Thymidine Kinase 2 deficiency is an autosomal recessive mitochondrial disorder primarily characterized by serious and progressive muscle weakness, known as myopathy. Given the rarity of the disease, many cases go unnoticed, significantly impeding timely diagnosis and treatment. Genomenon is leveraging its state-of-the-art artificial intelligence capabilities alongside a team of genomic experts to meticulously curate all known variants of the TK2 gene and make this information readily accessible to clinicians and researchers worldwide.

One of the significant outcomes of this partnership is the submission of nearly 100 TK2 variants to ClinVar, a prominent public database maintained by the National Center for Biotechnology Information (NCBI). Approximately 40% of these variants had not been documented in ClinVar previously, expanding the database with new insights pertaining to nearly 25% of variants classified as pathogenic or likely pathogenic. These enhancements provide valuable resources that empower health professionals to offer better diagnoses and treatment options for affected patients.

Notably, Genomenon also contributed information to clarify previously ambiguous cases. Their rigorous analysis led to a variant that was previously deemed of uncertain significance (VUS) being reclassified as likely pathogenic, showcasing Genomenon’s thorough approach to genomic literature.

UCB’s involvement represents a key element of Genomenon’s Genetic Disease Sponsorship Program, which is designed to aid notable biopharmaceutical companies in the curation and dissemination of detailed variant data for rare diseases. By enabling easier access to expertly aggregated genetic information, this initiative mitigates barriers to genetic diagnosis, ensuring that crucial data is submitted to both ClinVar and Genomenon’s Mastermind Genomic Intelligence platform, thus maximizing potential impact and visibility.

The driving force behind this collaboration is the mission to support individuals living with TK2d and their families in overcoming challenges posed by the disease's rarity and complexity. According to Dr. Sarah Chang, UCB's medical strategy lead, this partnership is pivotal in bridging critical knowledge gaps, expediting accurate diagnostic processes, and facilitating research aimed at improving the lives of those impacted 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,” she remarked.

Mike Klein, co-founder and CEO of Genomenon, echoed this sentiment, emphasizing that the partnership is not just about sharing information but fundamentally about ensuring that no one is left in diagnostic uncertainty. “By providing access to expertly curated TK2 variant data in both Mastermind and ClinVar, we are enhancing confidence in diagnoses, ultimately aiming to improve patient care across the board,” he stated.

The future of TK2d management is looking brighter, thanks to this innovative collaboration between Genomenon and UCB. By utilizing AI-driven technologies and expert curation of genetic data, these organizations are contributing to a noble cause, aiming to streamline diagnostic efforts and foster advancements in research for rare genetic diseases.

For more details, visit Genomenon’s website or follow them on LinkedIn to stay updated on their latest initiatives.