CENTOGENE N.V., and the Laboratory of Human Genetics of Infectious Diseases at Institut Imagine announced a strategic research collaboration to improve health outcomes for rare disease patients by accelerating and de-risking drug discovery and clinical development. As part of the collaboration, CENTOGENE and the Lab will leverage the CENTOGENE Biodatabank, which contains over 70 million unique genetic variants collected from more than 800,000 patients from over 120 countries ? providing valuable and unparalleled insights into the role that specific genes play in disease.

Together, CENTOGENE and the Lab will jointly agree on future research projects that will integrate multiomics and bioinformatics to analyze this highly diverse data to discover and validate novel genetic and biochemical targets that can be used for future development of rare disease therapies. By proving and validating the relevance of a target to disease and that modulating it will have the desired outcome, drug discovery and development can be significantly accelerated and de-risked. Specific targets of the collaboration have not been disclosed.

With more than 350 million people worldwide affected by over 7,000 rare diseases, approximately 95% of which do not have an available treatment, rare disease patients are facing some of the higher unmet medical needs. Progress towards the development of new therapies and cures in rare diseases is hindered by several factors: A lack of disease understanding compounded by small patient population, Difficulties in correctly diagnosing and identifying patients for trials, A lack of clearly defined clinical endpoints, and Complexities around leveraging real-world data. By combining expertise, the collaboration will support end-to-end, data-driven drug discovery and clinical development to enable better health outcomes for rare disease patients.

Dr. Vivien Béziat, Researcher at the Laboratory of Human Genetics of Infectious Diseases, and Dr. Christian Ganoza, Senior Scientist at CENTOGENE, are project leads for this collaboration.