Created and coordinated by Inserm, the Orphanet knowledge base (which contains the largest amount of epidemiological data on rare diseases from scientific publications) has launched a study published in the European Journal of Human Genetics, to analyze the available figures on rare diseases.
More than 300 million patients in the world are concerned.
The researchers have shown that out of the more than 6000 diseases defined in Orphanet, 72% are of genetic origin, and 70% begin in childhood.
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