Latest Rares diseases biotechnology articles and news on biotech industry leaders, emerging biotech companies in Spain

Las claves de los paneles de genes, exomas y genomas en la práctica clínica, nuevo programa formativo de Genotipia e Illumina

by Revista Genética Médica

1 year ago
“Paneles, Exomas y Genomas en la Práctica Clínica”, Genotipia

El análisis de paneles de genes, exomas y genomas se ha convertido en una herramienta esencial para el diagnóstico de muchas enfermedades genéticas. Cada una de estas tres aproximaciones genéticas...

A study with the participation of CSIC reveals the structure of the protein responsible for Huntington’s disease

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

1 year ago
Huntington’s disease, glutamine, huntingtin

Now, the results of this study reveal that there is no qualitative change between the structure of huntingtin with a pathological number of glutamine repeats, and the huntingtin of healthy people. The...

Results of the ROAR basket study: the efficacy and safety of combined tumor-agnostic therpy in pacients with BRAFV6ooE-murated rare cancers

by VHIO

1 year ago
BRAF gene, BRAFV600E alterations, ROAR Study, trametinib, dabrafenib

Encouraging efficacy and safety results of the phase II ROAR basket study support tumor-agnostic therapy in patients with rare cancers and suggest that genetic testing and tumor profiling should be in...

New breakthrough to prevent alterations in the cell degeneration process in the rare disease spinal muscular atrophy

by IRB Lleida. Institut de Recerca Biomèdica

1 year ago
spinal muscular atrophy (SMA), SMN1 gene

Research conducted in Lleida has discovered a new link between intracellular calcium, signalling pathways and autophagy that represents a new advance in preventing alterations in the process of cell d...

Mejora la disponibilidad de los medicamentos en España, aunque aumenta el tiempo de espera de los pacientes

by Farmaindustria

1 year ago
Farmaindustria

Un estudio europeo muestra que España ha pasado de un 53% a un 58% de accesibilidad a los fármacos que aprueba la EMA, frente al 88% de Alemania o el 80% de Italia

Blood test could detect and monitor rare neurodegenerative disease SCA3

by Instituto de Investigación Marqués de Valdecilla

1 year ago
cerebellar ataxia (SCA3)

The results open the possibility of using 5 genes identified as markers that correlate with the severity of the disease in the brain

Investigadores del IBSAL actualizan el conocimiento sobre neurofibromatosis

by DiCYT - Agencia Iberoamericana para la Difusión de la Ciencia y la Tecnología

12 months ago
neurofibromatosis

Una revisión publicada en ‘Communications Biology’ acerca de una enfermedad rara que afecta al sistema nervioso servirá para orientar a pediatras e investigadores

The search for the origin of a rare tumor points to a poorly studied mechanism as a new would-be hot topic in cancer research: ‘succinylation’

by CNIO - Centro Nacional de Investigaciones Oncológicas

12 months ago
tumor pheochromocytoma-paraganglioma, succinilación, DLST protein, pseudohipoxia

It has been discovered that one of the causes for the rare tumor pheochromocytoma-paraganglioma is the interruption of a very specific step in the production of some proteins, called succinylation.

AI algorithms for diagnosing rare diseases do not include current human diversity

by Universitat de Barcelona

12 months ago
artificial intelligence (AI)

With artificial intelligence (AI) it is possible to apply more objective methods in the diagnosis of rare diseases. However, most AI-generated algorithms are based on databases of European populations...

New research with Lleida's participation will change the approach to patients with dementia caused by the rare disease CADASIL

by IRB Lleida. Institut de Recerca Biomèdica

12 months ago
CADASIL

The research has focused on the study, using methods based on proteomics and immunohistochemistry techniques, to explore the extent of inflammatory and immune responses in subjects with CADASIL

Palobiofarma announces the enrolment of the first three patients in the clinical study investigating the effects of its novel compound PBF-999 for the treatment of Prader-Willi Syndrome

by Palobiofarma

12 months ago
Prader-Willi Syndrome (PWS, PBF-999

Palobiofarma S.L., a biopharmaceutical company dedicated to the discovery and development of innovative drugs, has enrolled the first three patients in a clinical study to investigate the potential of...

Personalized therapies based on the study of genetic alterations could increase the survival of nasal NK-T lymphoma

by IDIBELL - Institut d’Investigació Biomèdica de Bellvitge

12 months ago
L-asparginase, Nasal NK-T lymphoma

A study focused on this disease compares patients in Spain, where it is a rare disease, and the results of other studies carried out in East Asia and Latin America, where the disease is more frequent ...