Largest-Ever Study Uncovers Genetic Causes of Developmental Disorders

A groundbreaking study involving nearly 30,000 families has revealed that most undiagnosed developmental disorders linked to recessive genes are associated with known genes, SciTech Daily reported yesterday.

Conducted by researchers from the Wellcome Sanger Institute and GeneDx, this research analyzed genetic data from a diverse cohort, including over 20% from non-European ancestries.

The findings, published in Nature Genetics, indicate that known genes account for approximately 84% of cases caused by recessive variants, a significant increase from earlier estimates. Researchers identified new genes, such as KBTBD2 and CRELD1, associated with these disorders, providing insights for previously undiagnosed families.

The study highlights the role of consanguinity in varying prevalence rates across different ethnic groups, ranging from 2% to 19%. Researchers emphasize the need for improved interpretation of genetic changes in known genes to enhance diagnosis rates, potentially doubling the number of patients diagnosed without additional samples.