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...
read more
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 European...
read more
A very recent study published in the scientific journal PNAS highlights an estimate, on a global scale, of the frequency of individuals carrying pathogenic mutations responsible for inherited retinal dystrophies (IRD) and illustrates the prevalence of this group of diseases. These data are highly relevant for genetic diagnosis, genetic counselling and the design of new therapies. The authors studied the...
read more
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...
read more
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...
read more
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...
read more