Gloria González, researcher at Cima: "If a treatment saves a life, no amount of money in the world can pay for it."

Noah is a 26-year-old woman who suffers from seven rare and incurable diseases. Since her first year of life, she has undergone numerous operations, medical tests, and hospital admissions. This Wednesday at 7 p.m. at the Golem Baiona cinemas, the film"Noah"will be screened, a Spanish documentary that tells the story of this young woman who has turned her story into a message of resilience and hope.

Yesterday afternoon, at Civivox in Iturrama, his story came to light. Gloria González Aseguinolaza, professor at the School Medicine and researcher at Cima of Navarra, gave a lecture "Rare diseases: The answer lies in our genes,"and referred to one of the diseases Noah suffers from, which is genetic in origin.  

At the beginning of the talk, the researcher gave an informative explanation about DNA and how this molecule is manager making us all different from one another. To frame her speech about Mendel's inheritance and peas, and about the pus on surgical gauze, fruit flies, and bread mold as examples of organisms or biological materials used as models of study in Genetics, microbiology, and biomedicine.

She also highlighted the project (1990-2003), which was a milestone for medicine, as it succeeded in deciphering the complete sequence of human DNA (3 billion chemical "letters" and between 20,000 and 25,000 proteins that form our biological basis). For Gloria, technology has now evolved at breakneck speed. "For example, although it took years and many research groups research sequence the first human genome, it now takes only days and is done by a single laboratory."

Thanks to the project Genome project , it has been possible to see precisely how variations in DNA can be associated with the cause of a disease. "A modification in DNA that alters the structure or function of a protein can cause a disease."

The researcher pointed out that there are more than 300 million people affected by rare diseases and more than 7,000 different genetic diseases, and that some of them, if treated in time, such as spinal muscular atrophy, can improve people's lives. The scientist pointed out that it is possible to manipulate DNA through the use of molecular tools obtained from bacteria, which allow laboratory artificially create DNA with new information. laboratory The speaker that viruses can be excellent vehicles for gene therapy, as they can enter cells and introduce genetic material: "once inside, the genetic material can be used by the cell to produce therapeutic proteins." For Gloria, "the problem with these diseases is that sometimes palliative treatments, physical therapy, or stimulation are necessary to improve quality of life," unlike other diseases, such as those of bacterial or tumor origin, where it is possible to apply more targeted therapy. 

The biologist from Hondarribia said that institutional support is needed to finance these treatments, which are very expensive per patient. "We need to improve production systems and then transfer this to those who produce on a large scale. It's going to be a work . It's very expensive, but no more expensive than a life. If a treatment saves a life, no amount of money in the world can pay for it."

#LabMeCrazy! Science Film Festival is an competition science film competition organized by the University of Navarra Science Museum, in partnership the Caja Navarra Foundation, and with the support of the Spanish Foundation for Science and Technology (FECYT) / Ministry of Science, Innovation, and Universities, the Government of Navarra, the SACYR Foundation, Laboral Kutxa, the Lilly Foundation, and Sanitas.