We are glad to announce that early this year DBGen Ocular Genomics has achieved more than 1,000 genetic diagnoses of hereditary visual disorders.
The genetic diagnosis of hereditary eye diseases is not without a high degree of complexity. Over 270 genes associated with inherited retinal dystrophies (IRDs) and more than 500 genes associated with visual disorders with a Mendelian inheritance have been found, there are many new genetic variants, among which we must identify those that are really pathogenic, de novo cases, cases with multi-Mendelian inheritance and with mosaicism. Therefore, diagnostic efficiency requires a very specialized knowledge, usually absent in generalist genetic diagnostic laboratories.
The work of DBGen is based on a team with more than 25 years of experience in genetic research of IRDs. Our laboratory has successfully applied advanced next-generation sequencing technologies and bioinformatics methodologies to reach a high diagnostic yield of over 85% and has the capability of solving highly difficult cases.
Surpassing the 1,000 genetic diagnoses figure positions DBGen as a genetic diagnosis reference laboratory in southern Europe in the molecular analysis of eye diseases. We will continue working hard and innovating to provide high quality genetic diagnosis of hereditary visual disorders and to preserve the trust we have earned from leading ophthalmological institutions, doctors, patients and their families.