Study linking 28 genes to developmental disorders to mean diagnoses for about 500 families

Research into the causes of developmental disorders has identified 285 genes linked to these conditions, including 28 newly-associated genes. The study will enable diagnoses for around 500 families living with children who have rare conditions. The authors collated anonymised healthcare and research data to create the largest available genetic resource for developmental disorders. They estimate about 1,000 genes linked to developmental disorders remain to be discovered, requiring more open access to healthcare data.

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