A mark on the head of children indicating a rare genetic disease

British researchers from the University of Portsmouth and Southampton discovered a rare genetic disease that has not yet been named, which causes delays in cognitive development in children.

According to scientists, the new disease causes cataracts to appear early in children. The condition affects one in 17 children, according to the study published in the journal Genome Medicine.

The researchers revealed that the majority of patients who suffer from this disease also suffer from microcephaly, which is a defect that appears at birth, in which the child’s head is smaller than expected when compared to children of the same sex and age.

The cause of the genetic disease is changes in a gene called “coat protein complex 1”. Identifying variants in this gene enables doctors to develop treatments, as well as screening and diagnosing before birth.

Scientists made this discovery by examining the DNA sequences of infected patients and their family members, which identified COPB1 as the possible underlying cause of the disease.