A longitudinal study from the Institut de Recerca Sant Pau (IR Sant Pau), published in Alzheimer’s & Dementia, shows that these alterations can fluctuate and even decrease over time in the Down synd...
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The research describes the world's first documented case of transmission of hereditary angioedema through assisted reproduction
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The LESS-AD study is based on a novel therapeutic hypothesis: administering levetiracetam preventively, before the first epileptic seizure occurs, could not only reduce the risk of seizures but also h...
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La Agencia Estadounidense de Alimentos y Medicamentosha aprobado el medicamento de terapia génica denominado KRESLADI™ (marnetegragene autotemcel) de la empresa Rocket Pharma para el tratamiento de...
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A Vall d’Hebron team demonstrates, for the first time, the potential of optical genome mapping to detect genetic alterations associated with this rare disease that are not identified using conventio...
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A multicentre study describes the wide variability in clinical symptoms among patients and reveals that the severity of the disease does not depend exclusively on the SYNGAP1 gene, but on other geneti...
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Demuestran el papel relevante de las mutaciones de novo en la deficiencia de antitrombina, una enfermedad genética rara causada por alteraciones en el gen SERPINC1 que incrementa significativamente e...
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Un artículo reciente publicado en la revista científica Open Respiratory Archives presenta un decálogo de prioridades para mejorar el diagnóstico y el tratamiento del déficit de alfa-1 antitripsi...
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A research team from the Parc Taulí Research and Innovation Institute (I3PT) is looking for adult men with fragile X syndrome to participate in a phase II clinical trial. The study aims to evaluate t...
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Han identificado una nueva variante genética del déficit de Alfa 1 Antitripsina, una enfermedad genética minoritaria que aumenta los riesgos de sufrir enfermedades respiratorias y hepáticas
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The results indicate that genes of the FOXP family are essential during the development of the nervous system to ensure a normal sleep pattern in adulthood.
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Duchenne Parent Project Spain has invested €247,000 in the BEAT project, which will be carried out by IBEC. Cardiomyopathy is the leading cause of death in patients with Duchenne muscular dystrophy...
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La mejor actitud que podemos adoptar es la de trat...
The research team observed changes in head circumf...
AtCDF3 gene induced greater production of sugars a...
En nuestro post hablamos sobre este interesante tipo de célula del...
Acute myeloid leukemia (AML) does more than infiltrate the lungs: it a...
