Neurodegenerative diseases, unfortunately, are some one of the most infuriating scientists around the world. We still know very little regarding a good number of these evils and the steps that are taken in this field they are very shy. Now, in recent years some advances are giving researchers hope and one of them is the advance that is taking place in genetics. This new path opened by genetics is what three experts have talked regarding 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 worse response to treatment“, explained Ramón Cacabelos, 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 deposit of substances in the brain as a result of a mutation and in them epigenetics —the way in which the genome interacts with the environment— takes on special relevance.
In addition, Cacabelos has explained that in order to understand these diseases we must change the way in which we understand illness. By this he means that in these cases, when the disease has been diagnosed, there is nothing to do and, therefore, finding clues ahead of time can be very useful. Here the development of genomic medicine has a fundamental value. However, the scientist points out that we are “in the Paleolithic age of genomic medicine in neurodegenerative diseases”. Developing it will not be easy or cheap – he states that a government aid of 40 million euros is a “laughable figure” – it will give us a broader knowledge 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 diagnosticians, devoid of effective drugs with which to help patients with many neurodegenerative diseases. However, Lucía Galán, specialist in Neurology at the Hospital Clínico San Carlos, maintains that the dynamics are changing and now therapies are prescribed for some of these. “It is a very interesting time for the profession. We have more and more treatments although, unfortunately, none of them are curative. For us, the effectiveness of a treatment is measured in the reduction of disability.”
In any case, the neurologist wants to give a message of hope to patients and their families because more and more aspects of these diseases are becoming known and also thanks to the collaboration of patients. “This may lead us to worry more in the future regarding some preventive measures: for example, reducing risk factors when they are known or caring for them in the neonatal phase. Today’s students are going to see treatments that we mightn’t even imagine!”, the expert emphasizes.
Undoubtedly, one of the main challenges posed by these diseases is to advance the diagnosis as much as possible and to this end work is being done to detect 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 disease of the La Paz University Hospital Research Institute.
Round table. Neurodegenerative diseases: the importance of genetics.
“Interesting biomarkers are being found in cerebrospinal fluid samples, and even in blood and skin samples. Not all neurodegenerative diseases start in the brain, but peripherally. We hope in the future to 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 for progress in these health problems along with the advancement of personalized medicine focused on the uniqueness of each patient.
Although neurodegenerative diseases are commonly associated with old age, children can also suffer from them. In these cases, the genetic component is purely determining and they are rare diseases due to their low frequency in the population: “How can we prevent something genetic from happening? Making previous diagnoses, selecting embryos that do not have the genes that trigger these diseases, there is gene treatment to minimize the effect of the disease once the individual is bornbut it is the most expensive medicine 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, “diseases that put families to the test and that, therefore, should have associated comprehensive care. Fortunately, the visibility of patient organizations is increasing and their needs are taken more into account.” Neurodegenerative diseases in childhood are characterized by being very disabling and, in addition, some are associated with early death.
