Described two new variants of the TLR7 gene associated with severe COVID-19 in young and healthy men

by Hospital Universitari de Bellvitge

Older age, being a male, or suffering from certain chronic diseases such as diabetes or obesity has been linked to the development of severe forms of COVID-19. Now, a new study published in the journa...

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Identified key alteration in the genes involved in the development of Cornelia de Lange syndrome

by Hospital Universitari de Bellvitge

A study carried out at IDIBELL, led by a research group from IBV-CSIC, published in Nature Communications reveals the molecular bases of Cornelia de Lange syndrome, a rare disease that affects develop...

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A hand-pick of latest VHIO research highlights aimed at the more precise diagnosis of familial breast and ovarian cancer

by VHIO

​The BRCA1 and BRCA2 genes are crucial actors in the DNA damage response and repair pathway; a function that is critical in preserving the integrity of the genome. Mutations that meddle with the nor...

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Researchers identify new genes linked to longer reproductive lifespan in women

by Universitat Autònoma de Barcelona (UAB)

An international research co-led by UAB has identified nearly 300 gene variations that influence reproductive lifespan in women. Additionally, in mice, the researchers have successfully manipulated se...

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El silenciamiento de la expresión del gen Rabphilin causa cardiomiopatía dilatada en un modelo de daño renal en Drosophila

by Revista Genética Médica

​La enfermedad renal crónica y las patologías cardiovasculares están relacionadas, siendo ambas, en múltiples contextos, causa y consecuencia la una de la otra. La aparición y desarrollo de una...

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Interferencia de los pseudogenes en el diagnóstico genético realizado mediante NGS

by Dreamgenics

Del total de ADN que compone nuestro genoma, entre un 95-98 % corresponde a pseudogenes, intrones, secuencias UTR, y otros ADNs no codificantes. En humanos, se estima que existen más 19.000 pseudogen...

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A master regulator gene for brain cancer with the worst prognosis

by CNIO - Centro Nacional de Investigaciones Oncológicas

​FOSL1, a gene that wasn’t previously related to brain tummors, acts as a general genetic switch for the mesenchymal subtype of glioblastoma

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IDIBELL scientists identify the PI4KA gene as the cause of a new neurological disease

by Hospital Universitari de Bellvitge

This new rare disorder causes a range of symptoms including global delay in brain development, epilepsy, and defects in myelin and the immune system.

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Clinically qualifying predictive biomarkers of response to PARPi in patients with prostate cancer

by VHIO

PARP inhibitors (PARPi) are approved for treating advanced prostate cancers with various defective DNA repair genes, although not all patients derive the same benefit from this targeted therapy.

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Recomendaciones para el cribado de portadores de variantes genéticas recesivas

by Revista Genética Médica

​Las pruebas genéticas de cribado de portadores analizan la presencia de variantes genéticas recesivas, que de forma individual no repercuten en la salud de la persona portadora pero sí pueden se...

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Desvelada la estructura proteica que permite que los virus bacteriófagos infecten a la bacteria 'E. coli'

by DiCYT - Agencia Iberoamericana para la Difusión de la Ciencia y la Tecnología

Un equipo del CNB-CSIC revela la estructura del complejo proteico que perfora la pared bacteriana de 'Escherichia coli' para transportar su genoma al interior

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