The Myotonic Dystrophy Type 1 Network (Red-DM) launches its official webpage

by Institute for Advanced Chemistry of Catalonia (IQAC-CSIC)

​The Nucleic Acids Chemistry group, led by Prof. Ramon Eritja’s of the IQAC (CSIC), is participating in a multidisciplinary network for Myotonic Dystrophy Type 1 (DM1) with other 6 research groups...

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Investigating Fragile X syndrome in girls and adolescents

by Instituto de Investigación e Innovación Parc Taulí

In this context, the doctoral thesis of the Lorena Joga, child and youth neuropsychologist at Parc Taulí and member of the I3PT Growth and Developmental Disorders Research Group, with the title "Frag...

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Spanish researchers to design proteins using AI to make advanced therapies more efficient

by INTEGRA

Researchers have joined forces to design using artificial intelligence and produce next-generation viral particles to be applied in advanced therapies. These particles can be used in immunotherapies, ...

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The first clinical trial of a gene therapy for Duchenne in children under 4 years old is initiated

by Fundació Sant Joan de Déu

A research team from the Institut de Recerca Sant Joan de Déu · SJD Barcelona Children’s Hospital is participating in an international clinical trial of a gene therapy for Duchenne muscular dystro...

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Accumulation of ‘junk proteins’ identified as one cause of aging and possible source of ALS

by CNIO - Centro Nacional de Investigaciones Oncológicas

CNIO researchers provide a new hypothesis to understand the origin of amyotrophic lateral sclerosis, or ALS. It would be triggered by a similar problem to that occurring in a group of rare diseases ca...

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La FDA aprueba un fármaco para el tratamiento de la Distrofia Muscular de Duchenne

by Revista Genética Médica

La FDA ha aprobado Duvyzat (givinostat), un medicamento oral, para el tratamiento de la Distrofia Muscular de Duchenne (DMD) en pacientes de 6 años o más.

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SOM Biotech announces the completion of recruitment in the Phase IIb study of the treatment of chorea in Huntington’s disease patients with SOM3355

by Som Biotech

SOM Biotech, a clinical-stage drug discovery and development company based on a unique proprietary Artificial Intelligence platform (SOMAIPRO®), is pleased to announce that the recruitment of the Pha...

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New mechanism discovered for the life-threatening arrhythmias in Andersen-Tawil syndrome

by Centro Nacional de Investigaciones Cardiovasculares - CNIC

The study demonstrates that a specific genetic mutation (C122Y) in the Kir2.1 potassium channel alters the function not only of Kir2.1 but also of the main cardiac sodium channel NaV1.5, thus establis...

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Descubren posibles tratamientos para la enfermedad renal poliquística

by Revista Genética Médica

Las innovadoras técnicas de modelos de enfermedades y edición de genes empiezan a dar respuesta a cuestiones pendientes desde hace tiempo.

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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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Haematopoietic stem cell transplantation from an unrelated donor works as a curative therapy for children with non-oncological blood disorders

by Vall d’Hebron

Vall d'Hebron presents positive results from two studies in transfusion-dependent thalassaemia and severe bone marrow aplasia at the EBMT Annual Meeting on haematopoietic stem cell transplantation.

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A dietary supplement has beneficial effects in Niemann-Pick type C disease

by Institute for Advanced Chemistry of Catalonia (IQAC-CSIC)

Research led by IIBB-CSIC and CIBEREHD scientists identifies S-adenosyl-L-methionine (SAM) as a new therapeutic strategy for this hereditary disease that causes neurodegeneration.

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