Human genetics as a tool for drug discovery

For children with a rare disease, an accurate diagnosis is crucial to provide advice, possible therapies and assess the potential risk for family members in future generations. Public initiatives such as the International Rare Diseases Research Consortium (IRDiRC) set the goal for 2017-2027 to “enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy soon after seeking medical care” (1).