CNIO will help building Europe’s largest DNA catalogue

by CNIO - Centro Nacional de Investigaciones Oncológicas

The European project Genome of Europe (GoE) will generate the most comprehensive genetic database of the European population to date, sequencing 100,000 genomes representing people across the continen...

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First European Clinical Guideline for Alport Syndrome Management Published

by Hospital de la Santa Creu i Sant Pau

The Sant Pau Research Institute (IR Sant Pau) and the Fundació Puigvert, a national and European reference centre in the diagnosis and treatment of rare renal and urogenital diseases, have participat...

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Researchers from the ibs.GRANADA discover the impact of genetics on hereditary arrhythmias

by Instituto de Investigación Biosanitaria - Ibs Granada

The study, published in Circulation: Arrhythmia and Electrophysiology, reveals how certain genetic mutations influence the risk and manifestation of inherited ventricular arrhythmias, affecting the he...

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Oryzon announces publication of study on Phelan-McDermid Syndrome (PMS) patients, a form of autism, paving the way for a novel personalized medicine approach with vafidemstat

by Oryzon Genomics

Study provides clinical scales and thresholds for patient selection in future clinical trials, based on aggressiveness, cognition, and behavioral traits

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A brain plasticity mechanism allows the reorganization of the sense of touch during development

by Professional Newco

A study led by the Institute for Neurosciences CSIC-UMH demonstrates that the brain reorganizes its sensory maps in the absence of tactile stimuli. These findings, published in Nature Communications, ...

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Consumo de fructosa, gestación e hipertrofia cardíaca

by Revista Genética Médica

Los resultados obtenidos sugieren que un consumo elevado de fructosa durante el embarazo podría tener repercusiones a largo plazo en la salud cardiovascular de las generaciones futuras, con el consig...

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Descubrimiento genético: un estudio internacional descubre casi 300 regiones del ADN relacionadas con el trastorno bipolar

by Bionand

Logran un avance significativo en la comprensión del trastorno bipolar al identificar 298 loci genéticos asociados con la enfermedad. Publicado en Nature, este estudio representa el mayor análisis ...

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La Cohorte IMPaCT integrará datos sobre exposición ambiental e información clínica de sus participantes gracias a dos nuevos proyectos

by CIBERESP - Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública

Los nuevos proyectos, AMBISiON-IMPaCT e IMPaCT-IC, han sido seleccionados en la Convocatoria de misiones conjuntas del Ministerio de Sanidad y del Ministerio de Ciencia, Innovación y Universidades, d...

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Un estudio en el que participa INCLIVA confirma el impacto clínico de la prueba genómica HER2DX® en el cáncer de mama HER2+ en etapas tempranas

by INCLIVA

El estudio, que ha mostrado que la prueba influyó en las decisiones de tratamiento en el 50% de los casos, permite enfoques terapéuticos más personalizados y reduce la intensidad de la quimioterapi...

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SpliceBio Announces First Patient Dosed in Phase 1/2 ASTRA Study of SB-007, a Dual-AAV Gene Therapy for Stargardt Disease

by Ysios Capital

SpliceBio today announced that it has dosed the first patient in the Phase 1/2 ASTRA study of SB-007, a dual adeno-associated viral (AAV) vector, for the treatment of Stargardt disease. Stargardt dise...

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Pioneering Study on Human Gene Functions Involving IR Sant Pau Published in Nature

by Hospital de la Santa Creu i Sant Pau

The study presents the most comprehensive compilation to date of human gene functions, effectively forming what could be termed the human functionome. This invaluable source of information holds profo...

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