SparingVision sells ex vivo GIRK technology to Tenpoint Therapeutics

by Ysios Capital

SparingVision, a clinical-stage genomic medicine company developing vision-saving treatments for eye diseases, today announced that it has sold its ex vivo GIRK technology to Tenpoint Therapeutics.

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Applying massive sequencing to identify mutated genes in hereditary eye diseases

by Universitat de Barcelona

An agreement between the University of Barcelona spin-off DBGen Ocular Genomics and the company Novartis España will enable the genetic identification of retinitis pigmentosa (RP) and Leber congenita...

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The natural antioxidant L-Ergothioneine prevents the formation of cystine stones in a murine model of cystinuria

by IDIBELL - Institut d’Investigació Biomèdica de Bellvitge

El tratamiento con L-Ergotioneina consigue incrementar la solubilidad de la cistina en la orina, evitando así la formación de cálculos o retrasando su aparición.

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Nanopartículas con ARN mensajero para tratar trastornos de la sangre como la anemia falciforme

by Revista Genética Médica

Una estrategia basada en nanopartículas lipídicas cargadas con ARN mensajero permite editar, in vivo, en el propio organismo, el genoma de las células madre hematopoyéticas. La aproximación, prob...

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Researchers find new mechanisms that cause blindness and open the door to new treatments

by Universitat de Barcelona

A team from the University of Barcelona has described how the lack of the CERKL gene alters the ability of retinal cells to fight oxidative stress generated by light and triggers cell death mechanisms...

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AM-Pharma announces positive clinical data from phase 1b study evaluating ilofotase alfa in hypophosphatasia

by Ysios Capital

AM-Pharma B.V. today announced positive clinical results from the Phase 1b study evaluating the company’s proprietary recombinant alkaline phosphatase, ilofotase alfa, as potential enzyme replacemen...

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Nuevos genes relacionados con la calcificación de las arterias coronarias

by Revista Genética Médica

Investigadores de la Universidad de Virginia han identificado nuevos genes relacionados con la calcificación de las arterias coronarias así como dianas para el desarrollo de tratamientos para esta c...

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SpliceBio Enters Collaboration with Spark Therapeutics to Develop a Gene Therapy Targeting an Inherited Retinal Disease

by Asebio

Spark secures exclusive worldwide rights to SpliceBio’s proprietary Protein Splicing platform to develop, manufacture, and commercialize a gene therapy targeting an undisclosed inherited retinal dis...

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SpliceBio Enters Collaboration with Spark Therapeutics to Develop a Gene Therapy Targeting an Inherited Retinal Disease

by Ysios Capital

SpliceBio is pleased to announce the signing of an exclusive collaboration and licensing agreement with Spark Therapeutics to utilize SpliceBio’s proprietary Protein Splicing platform to develop a g...

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New recommendations for the classification of variants in the POLE and POLD1 genes to improve diagnostic accuracy in hereditary cancer

by IDIBELL - Institut d’Investigació Biomèdica de Bellvitge

The group has applied these classification recommendations to 128 variants reported in the literature and/or public databases, classifying 17 as pathogenic variants, and another 17 as benign.

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Podcast: Frederic Tort presenta una estrategia multiómica y funcional para mejorar el diagnóstico de enfermedades mitocondriales

by CIBERER - Centro de Investigación Biomédica en Red de Enfermedades Raras

Las enfermedades mitocondriales son monogénicas, es decir, causadas por mutaciones en un solo gen. Actualmente, se conocen unas 400 enfermedades mitocondriales distintas.

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