Applying massive sequencing to identify mutated genes in hereditary eye diseases

blue eye

  An agreement between the University of Barcelona spin-off DBGen Ocular Genomics and the company Novartis España will enable the genetic identification of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) in affected patients. Hereditary retinal dystrophies are pathologies affecting more than 20,000 people in Spain and can be caused by more than 200 genes, 70 of which are […]

Strabismus as the first symptom of severe congenital disorders

Child with Strabismus

  In DBGen we offer a new panel «Panel of Syndromes that occur with Strabismus (Congenital Cranial Dysinnervation Disorders)» designed specifically for the genetic diagnosis of these pathologies.   Strabismus is a disorder in which the two eyes are not aligned. The most common form of strabismus is known as «cross-eyed». In most cases it […]

DBGen Fifth Anniversary and Summary of 2022

A new year begins and DBGen wants to commemorate the arrival of the New Year by highlighting the main professional events and advances and acknowledging the contribution of all our patients and collaborators .   External Recognitions: At DBGen we stand firmly in our commitment to offer high-quality, reliable and affordable genetic diagnosis. One year […]

DBGen participates in EURETINA 2022

Banner Euretina 2022

DBGen has been in the EURETINA Congress 2022, which was held this year in Hamburg. This congress gathers the last advances in research in the area of visual pathologies. Dr. Rebeca Valero presented two complex cases which were diagnosed in DBGen by a combination of next generation sequencing techniques. The abstract of this work, «NGS technologies […]

Dr. Roser Gonzalez Duarte, co-founder of DBGen, has been awarded by the Societat Catalana de Biologia

Dr. Roser Gonzalez Duarte, professor of Genetics, innovative teacher at the Universitat de Barcelona, leader and mentor of many women of science, excellent researcher and disseminator of the genetics underlying inherited retinal dystrophies, counselor of rare disease patients and patient’s associations, enterpreneur and co-founder of DBGen Ocular Genomics, has been awarded the “SCB Trayectoria Profesional […]

DBGen fourth anniversary and summary of the year

Advances in genetic diagnosis This year, DBGen has expanded its genetic diagnostic services by presenting 3 new panels and incorporating state-of-the-art massive sequencing methodologies (complete genome sequencing). Three new panels: Panel of Dysgenesis and Dystrophies of the Anterior Segment (136 genes): indicated for the diagnosis of anomalies of the anterior part of the eye (from the […]

DBGen awarded an EASI-Genomics grant for innovative long-read sequencing of inherited retinal dystrophies

The Transnational Access Committee of the European Advanced infraStructure for Innovative Genomics (EASI-Genomics) has selected the project PID15251 submitted by DBGen Ocular Genomics in the third call for projects of this initiative. DBGen’s proposal has successfully passed the scientific and technical evaluation steps of this highly competitive call. EASI-Genomics is an initiative, funded with 10 million euros by the […]

DBGen’s genetic diagnosis of hereditary eye diseases tops the 1,000 patients figure

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 […]