Results about: rare diseases
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.
IRB Barcelona identifies GEMC1 as a master gene for the generation of multiciliated cells—cells with fine filaments that move fluids and substances—which are found exclusively in the brain, respiratory tract, and reproductive system.
Defects in multiciliated cells lead to ciliopathies—rare and complex diseases that are poorly understood and for which not all causative genes have been identified.
The second video, "Magical Choreography" (02:52), is devoted to Xavier Salvatella, ICREA researcher and holder of an ERC grant, awarded in 2015.
This biophysicist studies protein folding using the Androgen receptor as a model—a receptor linked to Kennedy disease —a rare neurodegenerative condition —and also to prostate cancer.
His research could lead to new drug treatments for both conditions. "Doing what we do is an honour but also a responsibility," says the scientist.