Latest Genomics biotechnology articles and news on biotech industry leaders, emerging biotech companies in Spain

New advances in the understanding of the pathophysiology of megalencephalic leukoencephalopathy (MLC) minority brain disease

by Hospital Universitari de Bellvitge

5 years ago
megalencephalic leukoencephalopathy, genetic disease, brain disease

MLC is a genetic disease that affects the myelin of the central nervous system, the white matter. It is a type of leukodystrophy characterized by megalencephaly caused by an increase in brain water co...

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

by Hospital Universitari de Bellvitge

5 years ago
COVID-19, TLR7 gene

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...

Profesionales demuestran que el riesgo de desarrollar leucemia mieloide aguda depende de la presencia de variaciones genéticas en genes del sistema inmune

by Hospital Universitario Virgen de las Nieves

5 years ago
inmunoterapia, investigación de Genética de Hemopatías Malignas, leucemia mieloide aguda, Cáncer

Este hallazgo, publicado en la prestigiosa revista científica Blood Cancer, podría ayudar a diseñar nuevos tratamientos basados en la inmunoterapia.

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

by Hospital Universitari de Bellvitge

5 years ago
Cornelia de Lange syndrome, rare disease

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...

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

by VHIO

5 years ago
ovarian cancer, Cancdr, genes

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...

Researchers identify new genes linked to longer reproductive lifespan in women

by Universitat Autònoma de Barcelona (UAB)

5 years ago
gene variations, reproductive lifespan, menopause

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...

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

by Revista Genética Médica

5 years ago
enfermedad renal crónica, patologías cardiovasculares, Drosophila

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...

Interferencia de los pseudogenes en el diagnóstico genético realizado mediante NGS

by Dreamgenics

5 years ago
ADN, pseudogenes, proteínas, diagnóstico genético

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...

A master regulator gene for brain cancer with the worst prognosis

by CNIO - Centro Nacional de Investigaciones Oncológicas

5 years ago
genetic, Brain Tumour, Cancer

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

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

by Hospital Universitari de Bellvitge

5 years ago
immune system, neurological disease, PI4KA gene

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

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

by VHIO

5 years ago
PARP inhibitors, prostate cancer

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.

Recomendaciones para el cribado de portadores de variantes genéticas recesivas

by Revista Genética Médica

5 years ago
pruebas genéticas, enfermedades genéticas

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...