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).
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.
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.
The Meet Our Scientists video series introduces Jens Lüders, who studies microtubules—mini-filaments involved in multiple cell processes. The alteration of these structures is associated with diseases such as cancer and Alzheimer’s and with developmental defects.
In the video “Curiosity as a fuel”, Lüders recalls that transcendental discoveries arise from basic research and that such science is driven exclusively by curiosity, without specifically pursuing its applicability or transfer.