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).

Researchers at IRB Barcelona discover the structural consequences of the mutation that causes Kennedy disease

Kennedy’s disease is an untreatable neuromuscular disorder considered a rare disease

A study led by Xavier Salvatella may pave the way for new lines of treatment for Kennedy’s disease

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.