DBGen presents a research optimizing the genetic diagnosis of color vision deficiency

DBGen is committed to the quality of genetic diagnosis and its major goal since the beginning of the company is to remain at the forefront of innovation, prioritize resolution of difficult cases, and optimize methodologies that increase the diagnostic yield of inherited ocular diseases. These objectives are clearly attainable due to the high expertise in the field of genetic diagnosis of the research group of DBGen

Another main aim of DBGen, as a spin-off based at the University of Barcelona, is to contribute to the training of students enrolled in majors and master’s degrees in the area of human genetics. Within this context, Mariona Costa, on July 8, presented her final undergrad project in Biotechnology entitled “Optimization of the diagnosis of inherited retinal diseases: CNV detection in the OPN1LW and OPN1MW genes”.

Color vision deficiencies are caused by mutations in OPN1LW, OPN1MW and OPN1SW opsin genes. The opsins are photosensitive proteins synthesized in the photoreceptor cells responsible for the chromatic vision and located in the central part of the retina: the macula. The X-linked OPN1LW and OPN1MW genes share a high nucleotide homology (96%), similarities that make difficult to identify pathogenic variants and constitute a great challenge for genetic diagnosis through next-generation sequencing approaches.

The research, carried out by Mariona Costa, co-directed by Gemma Marfany Ph. D and Marta de Castro Miró Ph. D, has aimed to design a methodology to accurately identify the CNVs of the OPN1MW gene, as well as structural variants (deletions and duplications) in patients with chromatic vision deficiencies. The methodology developed allows to identify whether the pathology is caused by the OPN1LW or OPN1MW gene. This work will be soon submitted for publication.

Figure 1. Structure and expression of opsins in normal color vision. Modified from Eichler, E. E. (2019). Genetic Variation, Comparative Genomics, and the Diagnosis of Disease. New England Journal of Medicine, 381(1), 64-74.