Author(s): Chai, Guoliang
Generally, the discovery of a new rare disease is a research project in its own right. An international consortium, in which CENTOGENE played a major role, has shown how the discovery of a disease can be conceptually combined with therapeutic approaches in a single comprehensive study.
The delineation of a novel rare disease is commonly a stand-alone research project. An international consortium, in which CENTOGENE played a major role, showcased how disease discovery can conceptually be combined with therapeutic approaches in a single comprehensive study. The resulting paper appeared in the New England Journal of Medicine, one of the most prestigious medical publication platforms.
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