Biophysical Study on the Leber Congenital Amaurosis (LCA) Using Computational Analysis

Gene therapy aims to deliver a healthy, functional copy of a gene to the patient’s cells via engineered viral vectors. A point mutation or silent mutation can have detrimental effects on one’s health. In the case of retinal diseases, a mutation in the RPE65 gene, such as Arg91Trp, can lead to Retinitis Pigmentosa or Leber Congeital Amaruosis. The onset of these conditions can heavily affect visual function, with symptoms that range from light sensitivity to poor peripheral vision.

This paper identifies and analyzes abnormalities in the genetic sequence that lead to mutations in patients with genetic eye disorders. A computational and biophysical study were performed with genetic mutations identified in RP patients, then a computational study was also performed with pathogenic mutations identified in LCA patients, examining sequence abnormalities in their DNA.