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CENTOGENE N.V. (NASDAQ:CNTG) (the "Company"), the essential life science partner for data-driven answers in rare and neurodegenerative diseases, today announced the publication in Science of research on human pre-T cell receptor alpha (pre-TCRα) deficiency, a condition that often results in infection, lymphoproliferation, and autoimmune conditions, and its effect on human immunity.
The research, conducted in collaboration with the Laboratory of Human Genetics of Infectious Diseases at Institut Imagine and researchers around the world, analyzed the function of αβ and γδ T lymphocytes, two lineages of adaptive immunity in vertebrates, in particular the essential role of the pre-TCRα chain in αβ T cell development. The study revealed that complete pre-TCRα deficiency is rare in humans and less severe than anticipated. Clinical manifestations, when present, often do not appear until adulthood, suggesting a noncanonical pathway that can rescue αβ T cell development. Researchers also found that a partial form of pre-TCRα deficiency is less rare than anticipated, affecting about 1 in 4,000 individuals in South Asia and the Middle East, and can lead to autoimmunity with incomplete penetrance.
Prof. Peter Bauer, Chief Medical and Genomic Officer at CENTOGENE, said, "This research advances our understanding of pre-TCRα deficiency significantly. The paper in Science, which just so happens to come out on Rare Disease Day, underlines that while a variant or a condition may be considered rare, in totality, the number of patients affected can be surprisingly high. Our study shows that such deficiencies and patients are somehow linked, and with each insight, we are closer to further understanding human health and ultimately the path to life-changing answers for patients."
CENTOGENE played a pivotal role in the investigation by conducting an in-depth analysis of the CENTOGENE Biodatabank, the world's largest real-world integrated multiomic data repository in rare and neurodegenerative diseases. In analyzing genomic and phenomic data, CENTOGENE researchers helped establish the association between partial pre-TCRα deficiency and autoimmunity, with a higher prevalence than initially expected.
Christian Beetz, Senior Director Genomic Innovation at CENTOGENE, added, "Until now, the impact of pre-TCRα deficiency has been largely unknown. By leveraging our rich data through genomic and phenotypic analyses, we have been able to understand variants and the effects they have at a whole new level, which will help us diagnose and treat patients better in the future. This is what we are striving for every day."
"The study results highlight what cross-institutional collaboration can achieve," added Christian Ganoza, Senior Scientist Genomic Innovation at CENTOGENE. "By partnering with Dr. Vivien Béziat and Dr. Jean-Laurent Casanova of the Laboratory of Human Genetics of Infectious Diseases and working together with leading institutions around the world, we have been able to combine our insights to establish a deeper understanding of pre-TCRα deficiency, which wouldn't have been possible otherwise. Critically, the depth and breadth of the CENTOGENE Biodatabank provided the power to confirm the genotype-phenotype association in an independent real-world cohort, and our CENTOGENE team is proud to have been a part of this."
Posted In: CNTG
