A natural compound designated as an orphan drug for cystinuria

by Hospital Universitari de Bellvitge

3 years ago
Cystinuria, orphan drug, L-ergothioneine, rare disease

Cystinuria is a rare disease characterized by the formation of cystine stones in the kidney and urinary tract.

Identified key alteration in the genes involved in the development of Cornelia de Lange syndrome

by Hospital Universitari de Bellvitge

3 years ago
Cornelia de Lange syndrome, rare disease

A study carried out at IDIBELL, led by a research group from IBV-CSIC, published in Nature Communications reveals the molecular bases of Cornelia de Lange syndrome, a rare disease that affects develop...

Unprecedented data sharing driving new rare disease diagnoses in Europe

by Centre for Genomic Regulation

3 years ago
Rare disease

Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe. The findings are published today in a s...

Towards a treatment for myotonic dystrophy: the first 3D model with patient cells

by IBEC - Institut de Bioenginyeria de Catalunya

3 years ago
3D, myotonic dystrophy, rare disease, bioengineering

IBEC researchers led by Javier Ramón and Juan M. Fernández develop the first three-dimensional model for myotonic dystrophy, a rare disease that currently has no cure. The model combines patient cel...

Research on rare diseases at the Institute for Advanced Chemistry of Catalonia

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

4 years ago
Nucleic Acid Chemistry, Nanobiotechnology, Rare Disease, Supramolecular Chemistry

Within all the research lines carried out at the Institute for Advanced Chemistry of Catalonia of the Spanish National Research Council (CSIC), seven research groups dedicate part of their effo...

Catalytic Impact Foundation Invests in Oncoheroes Biosciences Endorsing Its Unique Effort To Treat Childhood Cancers

by Oncoheroes Biosciences

4 years ago
healthcare, Childhood, cancer, rare disease, CIF

Childhood cancer is considered a rare disease that accounts for about 1% of all U.S. cancer diagnoses. Although pediatric cancer death rates have declined over the past four decades due to improved tu...

New drug confirmed as a potential therapeutic agent for a rare disease, Friedreich's Ataxia

by IRB Lleida. Institut de Recerca Biomèdica

4 years ago
Friedrich's Ataxia, drug, rare disease

A recent study has confirmed the benefits of the drug leriglitazone in treating Friedrich's Ataxia, a rare disease that affects 2-4 people in 100,000 and for which there is currently no effective cure...

VHIR obtains more than €1 million from the use of a patent

by CataloniaBio

5 years ago
VHIR, patent, rare disease

The Vall d’Hebron Research Institute (VHIR) obtained more than €1 million in profit from the use of a patent of a new treatment for a mitochondrial rare disease caused by TK2 deficiency. It is ...

Identifican el mecanismo que desencadena un tipo raro de distrofia muscular

by Universitat Autònoma de Barcelona (UAB)

5 years ago
molecular mechanism, protein, genetic mutations, rare disease, muscular dystrophy, amyloid fibrils

A study led by the IBB-UAB has identified the molecular mechanism through which a protein, when carrying genetic mutations associated with a rare disease known as limb-girdle muscular dystrophy, type ...

Precipita platform raises funds for research in Cornelia de Lange syndrome at IDIBELL

by IBEC - Institut de Bioenginyeria de Catalunya

9 years ago
Cornelia de Lange Syndrome (CDLS), crowdfunding platform, rare disease, Precipita

The campaign started at Precipita crowdfunding platform aims to raise 25,000 euros for sequencing the genome of several patients looking for several markers that may be useful both for understanding t...