Events

See what’s new in the field of hereditary eye diseases

Blog managed by the DBGen team, with updated therapies, news and events involving hereditary eye diseases. We invite you to take part in this forum.

Filters

Subscribe to our blog

DBGen participates in EURETINA 2022

DBGenEventsScience and vision
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 (targeted gene panels, WES and...
leer mas

GLOBAL STARGARDT’S DISEASE DAY

EventsRare DiseasesStargardtTherapy
Stargardt’s syndrome, also known as juvenile macular degeneration, is a rare genetic disorder that usually develops in young adults and causes a progressive degeneration of the macula, the central region of the retina responsible for vsharp, central and color vision. Consequently, the main symptom of Stargardt’s disease is the loss of central vision and color blindness.   The main gene...
leer mas

DBGen JOINS THE GLOBAL CELEBRATION OF RARE DISEASES’ DAY

EventsRare Diseases
Rare diseases affect less than 1 out of 20.000 people. However, if we take into account the more than 7000 reported rare diseases, the numbers add up to 6% to 8% of global population. In consanguineous populations, the prevalence is much higher, reaching up to 60% (data from FEDER). These pathologies constitute an authentic puzzle: on the one hand, there are only...
leer mas

DBGen fourth anniversary and summary of the year

DBGenEventsGenetic diagnosis
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 cornea to the lens). Among...
leer mas

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

DBGenEventsGenetic diagnosis
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...
leer mas

DBGen second anniversary and summary of the year

DBGenEventsGenetic diagnosis
DBGen Ocular Genomics is a spin-off of the University of Barcelona specialized in the genetic diagnosis of hereditary eye disorders. It was founded in January 2018 by Roser Gonzàlez-Duarte and Gemma Marfany, both senior scientists focussed in human molecular genetics, particularly in the genetic basis of ocular disorders. DBGen Ocular Genomics aims to provide an accurate genetic diagnosis to guide...
leer mas