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Descubra las novedades en el campo de las patologías oculares hereditarias

Blog operado por el equipo de DBGen que actualiza terapias, noticias y eventos relacionados con las enfermedades hereditarias oculares. Le invitamos a participar en este foro.

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

21/01/20 - DBGen, Genetic 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...

DBGen second anniversary and summary of the year

30/12/19 - DBGen, Genetic 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...

DBGen presents a research optimizing the genetic diagnosis of color vision deficiency

09/07/19 - DBGen, Genetic Diagnosis, Research,

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...

DBGen presented in the PAAO2019 its most relevant results in the genetic diagnosis of eye diseases in Latin American patients

17/06/19 - DBGen, Genetic Diagnosis,

Dr. Roser Gonzàlez Duarte, professor emeritus of genetics at the University of Barcelona and founder of DBGen, attended the XXXIV Pan-American Congress of Ophthalmology held in Cancun (Mexico) from May 25 to 28, 2019. She presented a paper within the session "Clinical and molecular approaches in hereditary ocular pathologies" coordinated by Dr. Cristina Villanueva, an ophthalmologist at the APEC Hospital...

DBGen and the UB-CIBERER U-718 group present their current research in genetic diagnosis and animal models of inherited retinal dystrophies in ARVO 2019

13/05/19 - DBGen, Genetic Diagnosis, Retinal Dystrophy, Research, Gene Therapy,

Dr. Gemma Marfany (co-founder and scientific board member of DBGen) presented an oral communication in ARVO 2019 (held in Vancouver, 2-6 May) to show the most prominent results of the research that his group at the UB-CIBERER (U-718) and DBGEN are currently undertaking to study inherited retinal dystrophies. This work is focused on improved genetic diagnosis and the generation of...

Relevance of the identification and characterization of deep-intronic mutations

19/02/19 - Genetic Diagnosis, Retinal Dystrophy, Research, Mutation, Patients,

Genes are DNA sequences that contain information for the synthesis of proteins and they are composed of exonic and intronic sequences. The exons possess the information used for the protein synthesis, whereas the introns, although they do not contain information translated into protein, they play an important role to ensure their correct formation. Each gene has several exons interspersed between...

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