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

Palobiofarma Receives Rare Pediatric Disease Designation from the U.S. FDA for PBF-999 for the Treatment of Prader-Willi Syndrome

by Palobiofarma

3 years ago
Palobiofarma, Rare Pediatric Disease (RPD) Designation, FDA, Prader-Willi Syndrome

Palobiofarma has announced that the U.S. Food and Drug Administration (FDA) has granted Rare Pediatric Disease (RPD) Designation for the company’s phosphodiesterase 10 (PDE-10) inhibitor, PBF-999, f...

Científicos de la UMU y el IMIB exploran un nuevo tratamiento contra enfermedades genéticas poco comunes

by Universidad de Murcia

3 years ago
disqueratosis congénita, aptámeros, neutropenias congénitas

Han alcanzado un logro destacado en la investigación sobre dos enfermedades genéticas poco comunes y potencialmente mortales: la disqueratosis congénita y las neutropenias congénitas desarrollando...

Podcast: Frederic Tort presenta una estrategia multiómica y funcional para mejorar el diagnóstico de enfermedades mitocondriales

by CIBERER - Centro de Investigación Biomédica en Red de Enfermedades Raras

3 years ago
enfermedades mitocondriales

Las enfermedades mitocondriales son monogénicas, es decir, causadas por mutaciones en un solo gen. Actualmente, se conocen unas 400 enfermedades mitocondriales distintas.

European project ProFFIle facilitates a dynamic meeting between researchers and prion disease-affected associations

by CIC bioGUNE

3 years ago
ProFFIle, prion diseases, Prion diseases, including FFI, Fatal Familial Insomnia (FFI)

ProFFIle consortium researchers and representatives from various patient associations come together during the VII Annual Convention of individuals affected by and professionals in prion diseases, ...

Descubren la aplicación terapéutica del ácido linoleico y la L-carnitina en las miopatías nemalínicas

by Universidad Pablo de Olavide, de Sevilla

3 years ago
miopatía nemalínica, ácido linoleico, L-carnitina, Proyecto MYOCURE, gen ACTA1 (alpha-actina)

La suplementación con ácido linoleico y la L-carnitina fue capaz de polimerizar los filamentos de actina y mejorar las alteraciones patológicas en las células mutantes.

New research to develop treatment for ultrarare disease caused by ADSL gene mutation

by Universitat Autònoma de Barcelona (UAB)

3 years ago
adenylsuccinate lyase deficiency (ADSL)

The UAB has launched a new campaign to raise funds to study a gene therapy for adenylsuccinate lyase deficiency (ADSL), a rare genetic disease suffered by about 80 children in the world, including two...

Nuevas herramientas de fotónica e inteligencia artificial para el diagnóstico de enfermedades oculares, cardiovasculares y neurodegenerativas

by Fundació Sant Joan de Déu

3 years ago
proyecto BE-LIGHT

Están desarrollando nuevas tecnologías basadas en luz e inteligencia artificial para mejorar el diagnóstico de diversas enfermedades.

The Fortalece - Health program awards 2.4 million euros to Vall d'Hebron to promote research in chronic and minority diseases

by VHIO

3 years ago
Fortalece - Health program

They have coordinated to promote research on health challenges in the fields of cancer, cardiovascular and neurological disorders and rare diseases from childhood to adulthood. In total, 2.4 million e...

The I3PT wins 2 grants from the Ministry for a value of 0,73 million euros

by Instituto de Investigación e Innovación Parc Taulí

2 years ago
Prader-Willi Syndrome (SPW)., Fragile X syndrome (FSX), I3PT

The Parc Taulí Research and Innovation Institute (I3PT) has obtained funding for develop two projects presented to the competitive call "Public-private collaboration projects" of the State Research A...

First therapeutic target for preserving heart function in patients with pulmonary hypertension

by CNIO - Centro Nacional de Investigaciones Oncológicas

2 years ago
MCJ, pulmonary hypertension

The study results demonstrate that modulating the levels of MCJ in the heart can preserve cardiac function despite the presence of lung injury.

Organoids to study ataxia telangiectasia

by IBEC - Institut de Bioenginyeria de Catalunya

2 years ago
ATM gene, taxia telangiectasia, Organoids

The idea of the project is to obtain cells with the patient mutations, develop organoids, explore the possibility of gene editing processes for different mutations and create a platform for drug testi...

Una variante genética implicada en la respuesta a los niveles de oxígeno abre nuevas perspectivas para la Hipertensión Arterial Pulmonar

by Revista Genética Médica

2 years ago
KMT2E-AS1, hipoxia, hipertensión arterial pulmonar

Investigadores de la Universidad de Pittsburg han identificado una variante genética que influye en la respuesta del organismo a los niveles bajos de oxígeno, con implicaciones clínicas para el dia...