“We are in the paleolithic of genomic medicine”

Neurodegenerative diseases, unfortunately, are one of those that most drive scientists around the world. We still know very little about many of these evils and the steps being taken in this area are very tentative. Now, in recent years some advances give hope to researchers and one of them is the progress being seen in genetics. Three experts spoke about this new path discovered by genetics at the round table Neurodegenerative diseases: the importance of genetics in the III Symposium of the Health Observatory, Looking to the future of the healthcare system, organized by EL ESPAÑOL and Invertia.

“We have more and more scientific evidence for this golden rule: the greater the number of damaged genes, the more diseases develop, earlier and with a poorer response to treatment“, explained Ramon Cacabellos, founder and president of EuroEspes Health. The expert highlighted three common aspects in neurodegenerative diseases: they have a relatively high genetic component, in almost all of them there is an abnormal deposition of substances in the brain as a result of a mutation, and in them epigenetics – the way the genome interacts with the environment – takes on particular importance.

In addition, Kakabellos explained that to understand these diseases, we need to change the way we understand disease. By this he means that in those cases where the disease is diagnosed, there is nothing that can be done and therefore finding clues ahead of time can be very helpful. Here, the development of genomic medicine is of fundamental value. However, the scientist points out that we are “in the Paleolithic age of genomic medicine in neurodegenerative diseases.” Developing it won’t be easy or cheap – he says a government grant of €40 million is a “ridiculous number” – it will give us a wider understanding of these diseases.

[Acceda aquí a toda la información sobre el III Simposio del Observatorio de la Sanidad]

Until now, neurologists have been observed as diagnostics, bereft of effective drugs to help patients with many neurodegenerative diseases. However, Lucia Galán, a specialist in neurology at Hospital Clínico San Carlos, claims that the dynamics are changing and therapies are now being prescribed for some of them. “This is a very interesting time for the profession. We have more and more treatments, but unfortunately none of them are curative. For us, the effectiveness of treatment is measured in the reduction of disability.”

In any case, the neurologist wants to give a message of hope to the patients and their families, because more and more aspects of these diseases are becoming known and also thanks to the cooperation of the patients. “This may make us worry more in the future about some preventive measures: for example, reducing risk factors when they are known, or taking care of them in the neonatal phase. Today’s students will see treatments we couldn’t even imagine!”, emphasizes the expert.

Undoubtedly, one of the main challenges posed by these diseases is to speed up the diagnosis as much as possible, and for this purpose, work is being done to discover biomarkers that warn of a person’s vulnerability to them. “In the last 15 years, a lot of progress has been made in this regard,” explained Isabel Lastres-Becker, full professor at the Autonomous University of Madrid and director of the research group Molecular mechanisms and biomarkers of neurodegenerative diseases from the La Paz University Hospital Research Institute.

Round table. Neurodegenerative diseases: the importance of genetics.

“Interesting biomarkers are found in cerebrospinal fluid samples and even in blood and skin samples. Not all neurodegenerative diseases start in the brain, but peripherally. Hopefully in the future we will be able to find these biomarkers in a blood sample, but they are still relatively expensive.” In fact, Lastres-Becker explains that the drop in these prices is essential to progress in these health problems along with advances in personalized medicine. focused on the uniqueness of each patient.

Although neurodegenerative diseases are usually associated with old age, children can also suffer from them. In these cases, the genetic component is purely determinative, and they are rare diseases because of their low frequency in the population: “How can we prevent something genetic from happening? Making previous diagnoses, choosing embryos that do not have the genes that cause these diseases, there is a gene treatment to minimize the effect of the disease after the individual is bornbut it is the most expensive drug in the world,” said Ana Camacho, president of the Spanish Society of Pediatric Neurology (SENEP).

Neurodegenerative diseases in children are, in the words of the president of SENEP, “illnesses that put families to the test and therefore must have associated complex care. Fortunately, the visibility of patient organizations is growing and their needs are being taken into account.” Childhood neurodegenerative diseases are characterized by being very debilitating and, in addition, some are associated with early death.

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