Strabismus as the first symptom of severe congenital disorders

by DBGen Ocular Genomics

11 months ago
Strabismus, Moebius and Duane disorder

Strabismus is the first symptom of congenital cranial dysinnervation disorders such as Moebius and Duane among others. However, this trait is followed by more serious symptoms such as facial paralysis...

COLOR BLINDNESS: ¿How many colors do you see?

by DBGen Ocular Genomics

2 years ago
Color Blindness, opsin genes

What is color blindness? DBGen offers a brief explanation of color perception in humans and the associated genetic defects.

Organoids, generating human eyes for therapy

by DBGen Ocular Genomics

2 years ago
Organoids

Nowadays, most Hereditary Retinal Diseases lack effective treatment. One of the challenges in the development of new therapies is the difficulty to study the functional and physiological effects of th...

Un gran salto en el tratamiento de las patologías hereditarias de la visión: terapia génica

by DBGen Ocular Genomics

2 years ago
terapia génica, Adición de genes, CRISPR-Cas, Oligonucleotidos antisentido, Optogenética, Inteínas

De todos los avances que el desarrollo científico y tecnológico ha aportado en el campo de la patologías hereditarias que afectan la visión, el más relevante y trascendente de cara al paciente es...

Actualización de terapias en fase III de las patologías hereditarias de la visión

by DBGen Ocular Genomics

2 years ago
patologías hereditarias de la visión

Las enfermedades hereditarias de la visión forman parte del grupo de enfermedades raras, están causadas por muchos genes distintos, y en muchos casos el mismo gen está asociado a diversas entidades...

Innovative gene therapy for autosomal dominant retinitis pigmentosa

by DBGen Ocular Genomics

2 years ago
Retinitis pigmentosa, Gene Therapy, Retinal Dystrophy

Mutations in the RHO gene are the main cause of dominant forms of retinitis pigmentosa (RP). RHO dictates the production of rhodopsin, a transmembrane protein present in large quantities in the outer ...

Novel high-precision gene therapy to correct an eye disease in mice

by DBGen Ocular Genomics

3 years ago
Gene Therapy, Gene editing

Researchers from the Seoul National University (Korea) have applied for the first an improved genome-editing methodology, named prime editing to correct the genetic defects of two animal models of hum...

Encouraging advances in therapies for Leber congenital amaurosis

by DBGen Ocular Genomics

3 years ago
CRISPR therapy, Leber congenital amaurosis, gene therapy

Editas Medicine, a company specialising in the development of gene editing therapies, has announced the recruitment of paediatric patients to the Brilliance trial.

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

by DBGen Ocular Genomics

3 years ago
Genetic Diagnosis, DBGen

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 ...

Promising results for a first-in-class Usher syndrome IIA therapy

by DBGen Ocular Genomics

3 years ago
Retinitis pigmentosa, Usher syndrome, Therapy, biotechnology

The Dutch biotechnology company ProQR has just presented (March 2021) the first results of a clinical trial, named Stellar, with QR-421a, an antisense oligonucleotide designed to stop vision loss o...

La terapia génica de LHON confiere una mejora estable de la agudeza visual y facilita el camino para su aprobación

by DBGen Ocular Genomics

3 years ago
terapia génica LUMEVOQ, neuropatía óptica hereditaria de Leber, enfermedades degenerativas

La empresa biofarmacéutica GenSight Biologics, especializada en el desarrollo de terapias génicas para enfermedades degenerativas de la retina, ha publicado recientemente los resultados de dos ensay...

Optogenetic therapy to restore advanced vision loss in retinal dystrophies

by DBGen Ocular Genomics

4 years ago
Optogenetic, vision, dystrophie, retina, gene therapies, Allergan, GenSight Biologics, Bionic Sight

Gene therapies currently under study for retinal dystrophies are administered when viable photoreceptor able to be rescued at the functional level still remain. Most therapies are gene-specific...