New therapeutic approach to treat retinitis pigmentosa and other serious eye diseases

by Fundació Bosch i Gimpera

Researchers at the University of Barcelona are participating in a new consortium to design a drug with an innovative approach against this disease, which could also be used to treat other hereditary r...

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Mejora la comprensión del desarrollo del síndrome linfoproliferativo autoinmune

by Professional Newco

En la investigación se explica la interacción entre el gen FAS, la proteína mTOR durante la maduración extrafolicular en células B humanas y su implicación en el desarrollo del síndrome linfopr...

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Seis niños con sordera hereditaria mejoran la audición gracias a la terapia génica

by Revista Genética Médica

Dos recientes estudios ofrecen importantes avances en la utilización de terapia génica como tratamiento para la pérdida auditiva.

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Vivet Therapeutics receives EUR 4.9 million to advance development of a gene therapy

by Ysios Capital

Vivet Therapeutics announces the financing of EUR 4.9 million received from the French government to advance the development of a gene therapy for the treatment of cerebrotendinous xanthomatosis (CTX)...

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CIC bioGUNE presents the new Nuclear Magnetic Resonance (NMR) facilities

by CIC bioGUNE

With this latest acquisition of 1 GHz equipment, the CIC bioGUNE NMR facilities are now among the most advanced in southern Europe, highlighting the capacity of the research centre to lead research in...

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‘EURAS’ investiga las RASopatías, unos trastornos genéticos poco frecuentes que afectan al neurodesarrollo

by Universidad de Málaga

El grupo ‘Bases Moleculares de los Sistemas Biológicos’ de la Universidad de Málaga (SIBIUMA) forma parte del proyecto internacional ‘EURAS’, que avanza en el estudio de las RASopatías, uno...

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Empiezan las obras de Únicas SJD, centro monográfico para la asistencia e investigación de las enfermedades raras

by Hospital Sant Joan de Déu

Iniciará su actividad a finales de 2025 y se convertirá, junto al Hospital Sant Joan de Déu Barcelona, en uno de los mayores campus del mundo dedicados a las enfermedades raras.

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Rethinking clinical trial design for rare tumors

by VHIO

In an international study, they propose optimizing the design of clinical trials in rare tumors to speed up the study and approval of new drugs that will make it possible to respond to patients with t...

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World Rare Disease Day

by Dreamgenics

Approximately 80% of RRDs are genetic in origin, while the remaining 20% are the result of infectious, immunological, degenerative or proliferative diseases. The most important problem faced by patien...

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IRB Barcelona champions Rare Disease Day

by IRB Barcelona - Instituto de Investigación Biomédica

In the fight against these diseases, at IRB Barcelona, they are committed to interdisciplinary research through new projects aimed at better understanding rare diseases and developing new therapies an...

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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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PBF-999, the first in class treatment in development for the Prader-Willi Syndrome has received “Orphan Drug Designation” by the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA)

by Palobiofarma

The Orphan Drug Designation indicates the acknowledgement by the Regulatory Authorities of USA and the EU that PBF-999 have the potential to address the specific needs of individuals suffering from Pr...

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