Gene disorder causing degeneration of eye and blindness is under research done by the University of Geneva.
This genome consists of 20,000 genes that may cause degeneration of eye and blindness.
Presently, there has been 4,141 genes identified as having genetic abnormalities. This leaves around 16,000 genes that aren’t known to cause the disease. Researchers from the university are working with scientists from Pakistan and the US and are investigating a recessive gene condition that causes blindness in childhood.
After analyzing the genomes of family members who have children affected- the geneticists were able to pinpoint pathogenic mutations in a new gene, MARK3 being the cause. These findings were confirmed and published in the Human Molecular Genetics journal. They found that by modifying the homologous gene in drosophila flies – the result was abnormal eye development and blindness. By identification of the MARK3 related disease, we can better understand the mechanism of the disease, have diagnostics in place and initiate efforts for individualized treatment.
Monogenic disorders fall under two main categories:
Dominant disorders- which only need a copy of the gene to mutate and cause the disorder – Huntington’s disease.
Recessive disorders – are triggered by a mutation of both copies of gene – cystic fibrosis.
- Professor Stylianos Antonarakis who collaborated with Liqaut University of Pakistan said:
- “In our attempts to uncover new recessive genetic disorders, we looked at families where there was consanguineous marriage (close relatives) and where both parents carried one copy of the mutant gene and passed it on to the child”
The geneticists focused on an unknown illness which prevents eyes from developing and destroys them over time.
Researcher Muhammed Ansar from Department of genetic medicine went on to say:
“We started by sequencing the genomes of every member of a family that had three children with the genetic abnormality and two healthy children. The aim was to see which gene had mutations on two copies in the affected children, on one copy in the parents and one or zero copies in the normal siblings”
Scientists have managed to isolate the MARK3 gene as been cause of degeneration of eye and blindness.