Title:
Strange new genetic disease discovered that causes children's brains to develop abnormally
By:
University of Portsmouth
Published:
SciTechDaily, 20 April 2021
From the article:
Scientists have discovered a new genetic disease, which causes some children’s brains to develop abnormally, resulting in delayed intellectual development and often early onset cataracts.
The majority of patients with the condition, which is so new it doesn’t have a name yet, were also microcephalic, a birth defect where a baby’s head is smaller than expected when compared to babies of the same sex and age.
Researchers from the universities of Portsmouth and Southampton found that changes in a gene called coat protein complex 1 (COPB1) caused this rare genetic disease.