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In a recent breakthrough published in *Nature*, researchers have demonstrated that whole-genome sequencing can effectively diagnose severe intellectual disability, even when traditional tests fail to identify any abnormalities. Intellectual disability affects approximately 0.5% of newborns and often has a complex genetic basis, with the underlying causes remaining largely unknown. This study uncovered specific DNA anomalies that may be responsible for the condition.
Traditional methods such as gene chip analysis and exon sequencing typically focus on known genes or specific DNA regions, aiming to detect inherited genetic mutations, including structural and sequence changes. However, despite these efforts, the majority of cases of severe intellectual disability remain undiagnosed.
To better understand the full spectrum of genetic variations linked to this condition, Joris Veltman and his team at the Netherlands Institute for Neuroscience conducted genome-wide sequencing on 50 patients with severe intellectual disability and their unaffected parents. Previous genetic testing had not identified any clear disease markers, but this comprehensive approach revealed 84 new single nucleotide variations (SNVs) and 8 novel copy number variations (CNVs) associated with the disorder.
The study found that whole-genome sequencing successfully diagnosed nearly 42% of the patients, highlighting its potential as a powerful diagnostic tool. Researchers emphasized that the impact of de novo SNVs and CNVs on coding regions plays a significant role in causing severe cognitive impairments. These findings underscore the importance of broader genetic screening in diagnosing complex neurological conditions and pave the way for more accurate and personalized medical care.