Results about: rare diseases

Our research addresses the evolution of the protein synthesis machinery, the molecular interactions that regulate it, and the biomedical applications that can be derived from its study. Our research projects are focused around the biology of transfer RNA (tRNA).

Connections between the cell cycle, centrosomes and cilia are gaining attention in biomedicine

A conference organised by IRB Barcelona and the BBVA Foundation brings together leading international researchers devoted to two cell organelles that play key roles in health and disease.

Cancer and certain developmental disorders are characterised by impaired activity of these complex cell structures and defects in cell cycle control.

New research front to tackle Friedreich’s Ataxia

IRB Barcelona starts a project with the long-term goal to achieve an injectable frataxin treatment able to reach the brain.

Frataxin is the protein that is reduced in those affected by this rare and degenerative disease, which has no cure.

The patients’ associations Babel Family and ASOGAF in Granada provide the funding for the initial 18 months of this challenge.

The United States brings together five labs worldwide to study a fatal form of epilepsy

Scientists from the US, Canada and Spain, among them Joan Guinovart from IRB Barcelona, are poised to perform joint research with the aim to find a treatment for Lafora disease, the most severe type of epilepsy in humans.

The National Health Institutes has awarded the consortium $8.5 over five years.

The US organisation Chelsea’s Hope, a charity formed by families affected by this disease, has promoted this international collaboration.