Genomenon and UCB Join Forces to Improve Rare Disease Diagnosis
Genomenon and UCB Collaborate for Better Diagnosis
Genomenon's recent partnership with UCB marks a significant step towards advancing awareness, diagnosis, and research of thymidine kinase 2 deficiency (TK2d). This collaboration aims to reduce the barriers faced by clinicians and researchers in addressing this rare mitochondrial disease.
Empowering Global Clinical Communities
By leveraging Genomenon's extensive expertise in genomic intelligence, the company is working to curate and classify all known TK2 gene variants. This valuable data is made accessible through the Mastermind Genomic Intelligence platform, aimed at benefiting the global clinical research community. Furthermore, the curated variants are also available on ClinVar, a renowned public archive for human variations and their associated diseases.
Understanding TK2 Deficiency
TK2d is defined as a rare, autosomal recessive mitochondrial disorder that predominantly results in progressive and severe muscle weakness. The disease is often overlooked, largely due to its complex genetic landscape and low prevalence. An early and precise diagnosis is vital for improving patient outcomes.
Key Contributions to ClinVar
In a proactive measure, Genomenon has submitted around 100 TK2 variants to ClinVar, with nearly 40 percent of these variants lacking prior representation in the database. This submission included around 25 percent that were classified as pathogenic or likely pathogenic, enriching the resources available to medical professionals and researchers alike. Genomenon's approach also lends clarity to previous ambiguous classifications by providing evidence that supports a pathogenic classification for certain variants previously deemed uncertain.
Support from UCB
The involvement of UCB in this endeavor is part of Genomenon's Genetic Disease Sponsorship Program, aimed at assisting leading biopharmaceutical companies in compiling and distributing comprehensive data on genetic variants tied to rare diseases. This initiative ensures that robust data on genetic variants is submitted to both ClinVar and the Mastermind platform, enhancing the visibility and impact of rare disease diagnosis and awareness.
Voicing the Importance of This Partnership
Dr. Sarah Chang, medical strategy lead at UCB, emphasized the challenges faced by individuals living with TK2d due to the rarity of the condition. She expressed hope that this partnership could bridge the existing knowledge gaps and foster quicker diagnoses while supporting the global research community's efforts to provide new opportunities for those affected.
Streamlining Genetic Diagnosis
Mike Klein, CEO of Genomenon, affirmed that their partnership with UCB focuses on eliminating barriers to genetic diagnosis to ensure no patient remains in diagnostic uncertainty. By providing expertly curated TK2 variant data, they are not only improving access to critical evidence but also aiding in resolving variant classifications, ultimately enhancing the care for those with rare diseases.
About Genomenon
Genomenon is at the forefront of genomic intelligence, dedicated to transforming patient care by unveiling the genomic factors contributing to genetic diseases and cancers. With innovative AI technologies rooted in comprehensive genomic datasets, Genomenon simplifies complex genetic data, providing clinicians and researchers with actionable insights that bolster patient diagnosis and precision medicine.
Frequently Asked Questions
What is thymidine kinase 2 deficiency?
TK2 deficiency is a rare mitochondrial disorder characterized by severe muscle weakness due to genetic mutations.
How does Genomenon contribute to the diagnosis of TK2 deficiency?
Genomenon curates and classifies genetic variants associated with TK2 deficiency, making them freely available to the clinical community, enhancing diagnosis.
What role does UCB play in this collaboration?
UCB collaborates with Genomenon to support the club of comprehensive variant data dissemination, facilitating more accessible diagnosis for rare diseases.
Why is early diagnosis of TK2 deficiency crucial?
Early diagnosis is essential to manage the disease effectively and improve patient outcomes due to the rare and complex nature of TK2 deficiency.
Where can I find more information about Genomenon?
Further information can be found on their official website, which offers insights about their genomic intelligence and services.
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