Genomic Database Screening Can Help Find People with Rare Diseases

Genomic Database Screening Can Help Find People with Rare Diseases

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Genomic Database Screening Can Help Find People with Rare Diseases

Screening genomic databases for disease-causing mutations could help identify people with possible aromatic l-amino acid decarboxylase (AADC) deficiency or other rare diseases, a study suggests. The findings were shared in a poster (no. 087), “Identification of individuals with likely AADC deficiency based on DDC variation in the Genomics England (GEL) 100k Genomes Project dataset,” which was presented at the British Paediatric Neurology Association Annual Meeting, held virtually earlier this month. AADC deficiency is caused by…

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