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

CNAG launches Pheno-Ranker, a software to compare phenotypic data and advance rare disease research

by Parc Científic de Barcelona

12 months ago
rare disease, Pheno-Ranker

It has been developed Pheno-Ranker, an open-source toolkit that transforms complex phenotypic data into actionable information, accelerating the discovery of diagnoses for rare diseases and facilitati...

An international study led by CIC bioGUNE identifies key mechanisms of an enzyme involved in a rare metabolic disease

by CIC bioGUNE

12 months ago
classical homocystinuria

The research, published in The FEBS Journal, improves understanding of classical homocystinuria, a hereditary metabolic disorder, and proposes new potential therapeutic approaches.

Activar una vía de defensa mitocondrial revierte el daño celular en modelos de encefalopatía etilmalónica

by Universidad Pablo de Olavide, de Sevilla

12 months ago
respuesta mitocondrial a proteínas mal plegadas (mtUPR), encefalopatía etilmalónica (EE)

El grupo de investigación ‘Desarrollo y enfermedades musculares’ del Centro Andaluz de Biología del Desarrollo logra corregir alteraciones fisiopatológicas en modelos celulares de esta grave en...

A pioneering study reveals new genetic mechanisms involved in rare head and neck tumours

by CNIO - Centro Nacional de Investigaciones Oncológicas

12 months ago
Paragangliomas and pheochromocytomas, ‘SDH-like type, ‘DNMT3A-like type’, STAG2 gene

The team at the National Cancer Research Centre (CNIO), a world leader in paragangliomas and pheochromocytomas, is forging new pathways for the early diagnosis and personalised treatment of these canc...

FDA grants orphan drug designation to UAB-developed gene therapy for ALS

by Universitat Autònoma de Barcelona (UAB)

12 months ago
Amyotrophic Lateral Sclerosis (ALS), viral vector of the AAV (adeno-associated virus), Klotho (s-KL) protein, orphan drug

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to a new gene therapy for Amyotrophic Lateral Sclerosis (ALS) developed at the Universitat Autònoma de Barcelona and li...

An aggressive childhood cancer case opens new avenues for advanced cell therapies

by IRB Barcelona - Instituto de Investigación Biomédica

12 months ago
Rhabdoid tumours, T cells, Cellular immunotherapy, TCR-T, immune checkpoint inhibitors (ICI)

After receiving chemotherapy and radiotherapy, the patient also began immunotherapy with immune checkpoint inhibitors (ICI), a treatment that boosts the ability of lymphocytes to recognise and combat ...

New Test Detects Carriers of a Rare Mutation Without the Need for Genetic Analysis

by Instituto de Investigación Marqués de Valdecilla

11 months ago
alkaline phosphatase, hypophosphatasia, ALPL gene, PLP (pyridoxal phosphate)

Researchers in Cantabria develop a simple, cost-effective test to help diagnose patients with low alkaline phosphatase levels

Identifican un nuevo marcador de buen pronóstico en melanoma uveal metastásico

by Hospital Universitari de Bellvitge

10 months ago
melanoma uveal metastásico, SF3B1

El Hospital de Bellvitge ha contribuido a identificar un nuevo marcador de buen pronóstico en el melanoma uveal metastásico, un melanoma poco frecuente pero que representa el cáncer intraocular má...

Investigadores de la UCLM descubren la función de un gen clave en enfermedades genéticas oculares raras

by Universidad de Castilla-La Mancha

10 months ago
gen ADAMTSL4

Este trabajo se centra en el gen ADAMTSL4, cuyas mutaciones están relacionadas con la dislocación del cristalino y otros problemas oculares graves.

CONNECTA Therapeutics to Advance CTH120 into Phase II Pediatric Development for Fragile X Syndrome with EIC Accelerator Support

by Parc Científic de Barcelona

10 months ago
CTH120, Fragile X Syndrome (FXS), tropomyosin receptor kinase B (TrkB)

CONNECTA Therapeutics, a clinical-stage biotech company located at the Barcelona Science Park (PCB), which leads the development of first-in-class neuroplasticity modulators to address unmet medical n...

IMPaCT-GENóMICA logra mejorar notablemente la tasa de diagnóstico genético

by Professional Newco

10 months ago
IMPaCT-GENóMICA

IMPaCT-GENóMICA realiza la secuenciación del genoma completo a las personas que acceden al programa tras no haber obtenido el diagnóstico con las pruebas asistenciales habituales. Con herramientas ...

INCLIVA reúne a personal investigador, profesionales clínicos y pacientes de distrofia miotónica tipo 1 (DM1) para abordar la situación de las investigaciones y retos en relación con esta enfermedad

by INCLIVA

10 months ago
distrofia miotónica tipo 1 (DM1), ATX-01

El objetivo de la jornada era presentar DM1-Hub, un registro nacional de DM1 en el que participan 50 hospitales de 8 comunidades autónomas con datos clínicos, de estilo de vida, neuropsicológicos, ...