Investigadores de IBIMA impulsan una terapia pionera para tratar la Osteogénesis Imperfecta gracias al apoyo de la Fundación AHUCE

by Bionand

Una delegación de la Fundación AHUCE visita el instituto para conocer de cerca los avances del proyecto europeo MORBIUS, liderado por el Dr. Iván Durán y la Dra. Lidiia Zhytnik; en colaboración c...

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Biomarcadores derivados de ácidos grasos en sangre permiten identificar a pacientes con adicciones y TDAH

by Bionand

Han identificado alteraciones específicas en moléculas presentes en la sangre que podrían servir como biomarcadores para detectar con mayor precisión a personas con trastorno por uso de sustancias...

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Un grupo de investigadoras e investigadores de Biogipuzkoa ha encontrado una estructuración anómala de la fibra muscular en la distrofia muscular de cinturas R1

by Biodonostia

Analizando la estructura muscular en los músculos de personas afectadas de LGMDR1, los hallazgos más llamativos fueron la incorrecta localización de la proteína integrina β1D en la fibra muscular...

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SpliceBio closes a $135 million Series B round led by EQT Life Sciences and Sanofi Ventures. Participants include Ysios and Asabys, among others

by Ysios Capital

The funding will be used to advance the clinical development of SpliceBio’s lead gene therapy candidate, SB-007 for Stargardt disease, including the ongoing interventional Phase 1/2 ASTRA study and ...

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Structural Brain Changes Identified Up to Fifteen Years Before Alzheimer’s Symptoms in People With Down Syndrome

by Hospital de la Santa Creu i Sant Pau

The results, published in the journal Brain, reveal that volume and cortical thickness loss in these regions can begin 13 to 15 years before the onset of symptoms, marking a significant advance in ear...

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The Mediterranean diet may act as a protective factor against the genetic risk of obesity in European preadolescents

by Universidad de Zaragoza

Among the main results of this study, the analysis revealed that in children with a high genetic predisposition, greater adherence to the Mediterranean diet was associated with a lower BMI during earl...

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Investigando la Distrofia Facioescapulohumeral

by Biodonostia

El día 20 de junio se celebra el Día Mundial de la Distrofia Facioescapulohumeral. Para conocer esta enfermedad y la investigación que se realiza en el Instituto, acudieron a Pilar Camaño, respons...

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Hallado un nuevo biomarcador útil y no invasivo para reflejar el estado de la distrofia muscular de cinturas R1

by Biodonostia

Estos hallazgos indican que el fragmento N-terminal de titina es una medida no invasiva del daño muscular en LGMDR1, que podría utilizarse en el seguimiento de la enfermedad y para ensayos clínicos...

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An international study validates the efficacy of a drug in adults with neurofibromatosis type 1

by Hospital Universitari Germans Trias i Pujol

A clinical trial involving the Germans Trias i Pujol Research Institute and Hospital demonstrates that administering selumetinib reduces the tumour and the associated pain.

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A study led by Sant Joan de Déu shows promising results for a new treatment for childhood cerebral adrenoleukodystrophy

by Fundació Sant Joan de Déu

An international team of researchers has published results of a phase 2/3 clinical trial evaluating the efficacy and safety of leriglitazone, a new oral drug for the treatment of pediatric cerebral ad...

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CNIC scientists reveal how the cellular energy system evolved—and how this knowledge could improve the diagnosis of rare genetic diseases

by Centro Nacional de Investigaciones Cardiovasculares - CNIC

CNIC researchers have uncovered the evolutionary logic of the OxPhos system—the cell’s “engine”—and developed a tool to detect mutations that cause mitochondrial disease

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Genes linked to sudden cardiac death increase the risk of heart failure in patients with genetic dilated cardiomyopathy

by Centro Nacional de Investigaciones Cardiovasculares - CNIC

Scientists at the Centro Nacional de Investigaciones Cardiovasculares (CNIC) report that the new discovery makes it possible to identify high-risk patients early and refer them sooner to specialized h...

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