Large study finds 14 new genetic disorders in children
Written by Ana Sandoiu
Published: Less than an hour ago
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Congenital anomalies are a leading cause of death among infants worldwide, and genetic factors play a major role in most of the cases. One of the largest genetic studies to be carried out in children has just uncovered 14 new genes responsible for developmental disorders.
[DNA strands]
A recent large-scale genetic study uncovers 14 new mutations in children.
Congenital anomalies are responsible for the death of more than 300,000 infants worldwide. These anomalies often include developmental disorders, including neural tube defects, heart defects, autism, Down syndrome, or other forms of intellectual disability.
For over 50 percent of these anomalies, researchers do not yet know the cause. They do, however, know that genes play a key role.
There are currently more than 1,000 recognized genetic causes for some of the developmental disorders. However, given that most developmental disorders are very rare, many more pathogenic variants remain unknown.
