Federación ASEM pone el foco en los avances en investigación y en la necesidad de acceso global a terapias en el Día Mundial de Duchenne y Becker

by Asebio

Actualmente existen unos 1.000 casos diagnosticados en España con Distrofia Muscular de Duchenne, y afecta aproximadamente a en torno a 1 de cada 5.000 niños varones en el mundo, lo que supone unos ...

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CNIC scientists report the first use of CRISPR activation to treat a cardiac disease in mice

by Centro Nacional de Investigaciones Cardiovasculares - CNIC

The researchers developed a mouse model carrying a truncating FLNC mutation that reproduces the electrical abnormalities observed in patients, including increased vulnerability to drug-induced arrhyth...

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A new epigenetic methodology makes it possible to reconstruct the evolution of cancer and anticipate its clinical progression

by Fundació Clínic per a la Recerca Biomèdica

The research team discovered that the original cell that gave rise to the tumour leaves a unique methylation signature, a fingerprint that not only reveals the identity of the tumour cells, but also c...

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A multicenter study identifies the differentiated risk of colorectal cancer depending on the affected gene in Lynch syndrome

by Fundació Clínic per a la Recerca Biomèdica

Researchers from Clínic-IDIBAPS, within the framework of the Clínic Barcelona Comprehensive Cancer Center, have led a study analyzing how genetic mutations associated with Lynch syndrome influence t...

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Gene change in sugar digestion alters bowel symptoms and glucose levels in IBS patients

by CIC bioGUNE

An international study, published in Gut, shows that a common DNA change is associated with gut symptoms and lower glucose levels after sugar ingestion in individuals with irritable bowel syndrome (IB...

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IMPaCT-GENóMICA logra mejorar notablemente la tasa de diagnóstico genético

by Professional Newco

IMPaCT-GENóMICA realiza la secuenciación del genoma completo a las personas que acceden al programa tras no haber obtenido el diagnóstico con las pruebas asistenciales habituales. Con herramientas ...

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El CNIC recibe una donación para investigar el síndrome de progeria de Hutchinson-Gilford

by Centro Nacional de Investigaciones Cardiovasculares - CNIC

Esta donación ayudará a desarrollar la investigación del laboratorio del Dr. Andrés sobre el síndrome de progeria de Hutchinson-Gilford (del inglés HGPS), una enfermedad genética ultra-rara, co...

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Veritas Genetics acquires CRG spinoff qGenomics

by Centre for Genomic Regulation

Veritas Genetics, a world leader in medical genomics, has acquired qGenomics, a leading company in carrier screening and array analysis. The scientific and technological expertise of qGenomics will al...

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New genetic clock mechanism discovered in plant roots

by Centro de Biotecnología y Genómica de Plantas CBGP

An international team led by the CBM in collaboration with CBGP has discovered that plant roots have an "internal clock" that governs when and how cells divide. This discovery explains how plants coor...

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Investigadores de la UPO identifican un antioxidante como posible tratamiento para la ataxia de Friedreich, una severa enfermedad neurodegenerativa

by Universidad Pablo de Olavide, de Sevilla

El ácido alfa-lipoico (ALA) puede restaurar los niveles de frataxina y tener un impacto beneficioso en la función mitocondrial en modelos celulares derivados de pacientes con ataxia de Friedreich (F...

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New findings explain how a mutation in a cancer-related gen causes pulmonary fibrosis

by CNIO - Centro Nacional de Investigaciones Oncológicas

A research group from the National Cancer Research Centre (CNIO) has found that an alteration in the POT1 gene prevents lung tissue from regenerating, which over time makes breathing difficult.

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Journal of Medical Economics study shows significant cost savings via MAF Test® – guided adjuvant bisphosphonate therapy for early-stage breast cancer

by Ysios Capital

The study demonstrates how the MAF Test®, which stratifies early-stage breast cancer patients by MAF gene status to guide adjuvant bisphosphonate therapy, delivers meaningful economic value across mu...

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