DBGen, a new spin-off of the University of Barcelona dedicated to the genetic diagnosis of visual pathologies

Human beings are essentially visual and the loss of vision implies a disability that impacts the quality of life of those who suffer from it and their families. Genetics is one of the most important causes of blindness. In fact, although more than 400 genes have been identified that cause different types of hereditary blindness, there are still genes to be discovered, as up to 900 minority diseases are known to affect eyesight, and some of them are not yet diagnosable. This is therefore a very important social and medical problem, as there is currently no cure for hereditary blindness and more than 4 million people are affected by it worldwide.

The genetic diagnosis of these pathologies is not only absolutely essential to ensure clinical diagnosis and improve prognosis, but also to identify the family members who carry the corresponding genetic alteration (mutation), to offer genetic advice, and to fully inform patienta of the possible therapeutic options for emerging gene and cellular therapies. This is the basis of prevention and personalized medicine. Despite its importance, it is not always easy to arrive at a conclusive genetic diagnosis of genetic vision disorders for several reasons. The number of candidate genes is very high and their study requires massive sequencing techniques that can only be performed in highly specialized centres. Moreover, identifying the causative gene and mutations among the thousands of genetic variants obtained by sequencing requires the use of customized bioinformatics tools and a deep knowledge of the molecular bases of visual pathologies to be able to discern and prioritize genes. The complexity of ophthalmic diseases means that companies of genetic diagnosis with a more general scope are not always able to reach a high rate of diagnostic success.

DBGen is a spin-off of the University of Barcelona (UB) created to fill this knowledge gap. The leading team, made up of scientists and scholars, has spent over 25 years devoted to research on the genetics of hereditary blindness, solving difficult cases, designing new diagnostic tools, and identifying new genes. The group’s research on the study of hereditary blindness is very extensive, ranging from the generation of new animal models and the publication of over a hundred articles in well known journals in the field, to the supervision of numerous doctoral and master dissertations and the involvement in the training of young researchers. At DBGen, researchers combine knowledge and innovation, incorporating and optimizing the latest advances in next-generation sequencing (NGS), a methodology that has revolutionized genetic diagnosis. Their accumulated experience in genetic and functional analysis of vision genes guarantees an excellent diagnostic success rate. DBGen also considers it a priority to establish direct contact with patients and ophthalmologists, fostering the interaction between clinical and genetic diagnosis and a close human relationship according to the principles of personalized medicine.

The recognized quality of DBGen, with over 500 diagnoses performed, allows it to collaborate with international leading institutions, ophthalmic clinics and reference hospitals, and to enter into agreements with companies dedicated to gene therapy trials aimed at patients with genetic defects in specific genes.

It is important to note that genetic diagnosis is particularly relevant today to guide the patient towards emerging gene and cellular therapies that depend on causative gene and mutations. In fact, recognized international agencies, such as the FDA, have just approved the first gene therapy treatments in humans for some severe retinal pathologies and, in order to qualify for them, an accurate genetic diagnosis such as the one offered by DBGen is an indispensable requirement.

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