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News & 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.

New RNA therapy for autosomal dominant retinitis pigmentosa

The United States Food and Drug Administration (FDA) has just approved the designation of the QR-1123 therapy by the Dutch company ProQR as a new investigational drug. This drug aims to treat a form of autosomal dominant retinitis pigmentosa (RPad) caused by the P23H mutation in the rhodopsin gene (RHO). QR-1123 is an antisense oligonucleotide, that is, a short RNA...

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A race against the clock for Leber congenital amaurosis gene therapy

ProQR Sepofarsen therapy On July 29, the Dutch company ProQR announced that the European Medicines Agency (EMA) has granted access to the Agency's priority medicine program (PRIME) to its Sepofarsen therapy (QR-110), designed for the treatment of Leber congenital amaurosis (LCA10), a childhood blinding disorder, caused by the c.2991+1655A>G (p.Cys998 *) mutation in the CEP290 gene. The EMA PRIME program...

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

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...

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Macular Week: Recent advances in pharmacotherapy for Stargardt disease

25/06/19 - Research, Patients, Stargardt,

Macular Week is all about sensitizing and informing patients, associations, professionals and society of latest achievements on macular degenerative pathologies. In this publication, we will focus on the news on orphan drugs that are currently in the clinical or preclinical phase for the treatment of Stargardt disease. Stargardt disease, the most common inherited macular dystrophy, is characterized by the progressive...

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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...

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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

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...

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