Explican los fundamentos moleculares de la discinesia ciliar primaria, una enfermedad rara respiratoria

by INCLIVA

Esta patología afecta tanto a niños como a adultos y provoca la inflamación crónica de las vías respiratorias aéreas (fosas nasales, boca y faringe)

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Potential modifier gene identified as cause of ciliary pathology in retinitis pigmentosa patient

by Universitat de Barcelona

A paper published in the journal Cells has identified a potential modifier gene for PCD by studying a family in which the mother and two sons are affected by X-linked retinitis pigmentosa (XLRP), and ...

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CNIC scientists identify the key cell type for strategies to prevent atherosclerosis in progeria syndrome

by Centro Nacional de Investigaciones Cardiovasculares - CNIC

It has been examined whether atherosclerosis can be avoided in HGPSrev mice by suppressing progerin and restoring lamin A either in endothelial cells or in vascular smooth muscle cells, two types of c...

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Thermo Fisher Scientific Reports First Quarter 2024 Results

by Thermo Fisher Scientific

Thermo Fisher Scientific Inc. (NYSE: TMO), the world leader in serving science, today reported its financial results for the first quarter ended March 30, 2024.

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New findings for a better understanding of TRAF7 syndrome and patient care

by Universitat de Barcelona

A study published in Pediatric Neurology provides a better understanding of the clinical, genetic and functional characteristics of CAFDADD syndrome, which is caused by the TRAF7 gene.

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Primera terapia de ARN mensajero para una enfermedad rara, la acidemia propiónica

by Revista Genética Médica

Una terapia basada en ARN mensajero muestra resultados preliminares prometedores para la acidemia propiónica, enfermedad rara del metabolismo. El análisis de los 12 primeros pacientes tratados apunt...

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El síndrome STXBP1, una enfermedad rara con implicaciones sociales

by Universidad de Jaén

Este síndrome forma parte de un grupo mayor de trastornos neurológicos que son difíciles de entender y de diagnosticar: los denominados trastornos del neurodesarrollo o encefalopatías epilépticas...

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First patient treated in OneChain Immunotherapeutics’ CAR T trial for cortical T-cell acute lymphoblastic leukemia

by OneChain Immunotherapeutics

OneChain Immunotherapeutics (OCI), a biotechnology company specializing in the development of CAR T cell therapies for oncological diseases, announced today the first patient dosed in the CARxALL clin...

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Advancing research into Schaaf-Yang syndrome, a rare disease that causes intellectual disability and congenital malformations

by Universitat de Barcelona

Mutations in the MAGEL2 gene, which cause Schaaf-Yan syndrome (SYS) —an ultra-rare disease that affects neuronal and cognitive development— generate truncated, non-functional proteins that tend to...

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Edición génica in vivo muestra resultados prometedores para una ceguera ultrarrara

by Revista Genética Médica

La edición génica in vivo, aplicada directamente en las células de los pacientes, podría llegar a ser una opción terapéutica para el tratamiento de la ceguera hereditaria conocida como amaurosis...

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An ibs.GRANADA study presents a promising new pharmacological treatment for a rare metabolic disease

by Instituto de Investigación Biosanitaria - Ibs Granada

The study, published in the scientific journal Cell Reports, has demonstrated in mice and human cellular models the effectiveness of a small molecule of phenolic nature in the treatment of diseases ca...

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La UPM lidera una investigación que analiza cómo el ejercicio afecta a la acción de los fármacos en fibrosis quística

by Universidad Politécnica de Madrid

Identificar la dosis correcta de ejercicio físico que puede realizar una persona que padece una enfermedad pulmonar crónica, especialmente en pacientes con fibrosis quística que toman fármacos de ...

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