UK scientists have discovered a rare genetic disease, which causes delays in intellectual development and leads to the early onset of cataracts, in children.
The condition is likely to affect one in 17 kids, however it is so new that it doesn’t have a name yet, stated the research team from the universities of Portsmouth and Southampton.
They found that a majority of patients with the condition 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.
In the study, published in the journal Genome Medicine, the team found that changes in a gene called coat protein complex 1 (COPB1) is the reason behind this new genetic disease.
Identifying the variant will help clinicians develop targeted interventions as well as open the door to screening and prenatal diagnosis.
For the study, the team sequenced the DNA of affected patients and their family members, which identified COPB1 as the potential underlying cause of the disease.
Using tadpoles to mimic the human gene variants, the tadpoles with the COPB1 gene changes had variably smaller brains than the control tadpoles and many of them had cataracts, just like the patients. This showed the link between the gene and disease very clearly.
“In our initial experiments to test the link between a genetic variation and a disease we found to our surprise that by altering the DNA of tadpoles, four times out of five we could re-create the disease-related changes seen in human patients. This will allow us to support our colleagues in providing more timely, accurate diagnosis that patients and their families so desperately need,” said co-author Matt Guille, Professor at Portsmouth University.
