Combining Genetic Insights and Therapeutic Efforts
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion
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.