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He directs the Center for Neurodevelopmental Disorders at King's College London and since last year is a member of the Royal Society of the United Kingdom, the prestigious institution founded in the mid-seventeenth century and to which scientists such as Isaac Newton, who presided over it, or the Spanish Nobel Prize winner Santiago Ramón y Cajal also belonged. , considered the father of Neuroscience. Óscar Marín follows in the wake of this discipline and his determination to know as much as possible the most complex organ of our body, the brain, and the disorders originated in its long development such as epilepsy, schizophrenia or those included within the autism spectrum.

The first question is almost obligatory. What are neurodevelopmental disorders? In a very general way they are diseases or dysfunctions of the brain, of our nervous system, which occur as a result of a deviation in the normal development of this structure and that can occur for a lot of things, but it really is a trajectory, let's say abnormal, that is finally pathological of the development of the brain. How long does our brain develop? In a somewhat naïve way we tend to think that all development occurs when we are in our mother's womb, and that when we are born the only thing that happens is that we grow, that we change size. But the development of our brain continues in our lives and there are still many processes that continue to shape how our brain is structured; It is not simply that it grows, in fact it no longer generates neurons at that time, but many connections are established in the first years of life, those that do not work are eliminated, the brain is reconfigured ... It is surely the most complex biological machine we know. It takes a long time to develop, practically from the moment we are conceived until we reach the end of the second decade of our lives, that is, 20 or 21 years. So, is it in those years when our brain would already be mature? Actually I always say that it never stops developing, because, although effectively when we reach that adulthood our brain is basically configured, our brain changes continuously. Every time we learn, every time we forget something, our brain's connections change. The number of neurons does not increase, except in very specific places, and there is no neuronal turnover, but the connections are being continuously reconfigured. That is, the same processes that occur during the development, formation and reconfiguration of those connections, continue to occur in the adult brain.

Neurology

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Bless you.

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Towards precision psychiatry: the new drugs that are transforming depression and schizophreniaIs there a time that is more critical or more important in brain development when we are in the womb? We begin to have a clearer idea of when most problems occur and a large number of diseases that, in some way, debut very early in life. For example, autism spectrum disorders and other disorders that appear, say, in the first years of life. We now know that the third trimester of pregnancy is a particularly important period in fetal development because it is a period in which many neurons are being produced at a rate, let's say, dizzying. That is, in the last three months of gestation. And we are also beginning to form connections between neurons, the first adjustments are made, those neurons that have not been placed in the right place are eliminated... So it's a particularly important time because there are a number of very critical events in brain development.

We think that, to a large extent, many of the developmental alterations, which we know are genetic, fundamentally affect that period of brain formation in which unfortunately a lot of things are happening and, therefore, we still have a lot of work ahead of us to try to understand exactly in what case, in what type of genetic alteration, What problem is occurring.

This umbrella, this set of neurodevelopmental disorders, is going to require a very personalized medicine to know in each case, practically individual to individual, what are the processes that are being altered and that, finally, produce a brain that is very similar to the rest of the population but that has a series of changes that have diverted it. They have taken it out of its normal developmental trajectory causing some disabilities to appear or some functions that have been altered and that lead to problems that we try to correct. In addition to genetic factors, are there environmental factors that influence these brain development problems? Exactly. Genes are very important; genetic information. Using a simile of the construction, for example that of a cathedral, which is what our brain would be, the genetic information is the plans, it is the information we need to build it and if the plans are altered, obviously that will lead to an altered structure. And in neurodevelopment we know that the genetic component is very, very high. Surely 80% of the risk is fundamentally genetic. But we also know, and this is very much related to this very long period of development of our brain, that during all that time we are exposed, first, inside the uterus, and then to the whole environment that surrounds us. For example, we know with a fair degree that viral infections during pregnancy, especially in late gestation, elicit immune responses that can somehow interact with those genetic changes and push brain development to take the wrong trajectory.

The same in the first years of life, the social environment, how we learn, from whom we learn, if we live in conditions of great poverty, malnutrition ... All of them, which are claStrictly environmental, it also has a very important impact on brain development.What are the main disorders caused by these alterations? In genetic cause, most neurodevelopmental disorders produce, in a very high percentage, epilepsy and in many other cases, intellectual disability or autism spectrum disorders, which is an umbrella term that encompasses a very diverse population of people, from some with pathologies and very severe medical problems and who need attention 24 hours a day, seven days a week, to others who are in a very different range and who do not have a very marked pathology.
We also know that there are disorders that have longer-term impact. For example, many psychoses, including schizophrenia, whose average age of clinical onset is around 20 or 22 years. This, which seems very late, we know is a consequence of an abnormal, atypical development of the brain and that, in some way, manifests itself much later and probably very much in relation to other aspects of our social life and interaction with other people.

80% of the risk of altered neurodevelopment is fundamentally genetic

What prevalence can we talk about? If one includes all this umbrella of diseases we talk about a global incidence of between 3% and 5% of the population and surely I am falling short. It is a really important problem and that, obviously, although it emerges during the development of the first years of our life, in most cases there is a consequence that affects the entire life of the person. That is, many of the people who have this type of disease require attention for the rest of their lives.Are there now more cases because of the life we lead, because of environmental factors? The epidemiology is not overly clear on this. It is true that there are factors, such as living in a city, that are directly related to the development of some diseases, such as psychosis; There is a very, very strong relationship. It does not mean that cities are bad, but that the way of life in society in a city is much more stressful in general than in a smaller urban center.
What has really changed in the last 20 years is that we have a much greater diagnostic capacity; We now have a clearer idea of why neurodevelopmental problems arise and where they arise. I think that the incidence, in general, is not much greater, but there are factors that can alter. For example, in autism, we know that the age of the father has a fairly important influence, that many of the genetic alterations that are observed in autism are produced not by genetic alterations of the father, but by a mutation that has occurred in the sperm and that is transmitted to the son. That is, the older the father, the more likely he is to accumulate mutations in the reproductive cells. As in so many other diseases, is early diagnosis essential? In the case of the nervous system, the advantage and also the disadvantage, the fact that it is the organ that develops more slowly, means that the sooner we know if there is a problem we can have a greater capacity to intervene. Our brain is very, very plastic; Much more plastic when we are small than when we are older. So it's much easier to learn a language or learn to ride a bike when you're a kid than when you're an adult. This capacity for plasticity means that even if we do not have very refined tools, early intervention is always much more effective than if we wait a long time.
Each disease will have a therapeutic window, a moment in which, once we know what the problem is in each case, action is taken. And the sooner we do it, the more chances we have of recovering most of its function. The most surprising thing is that the development of therapies advances faster than our knowledge of the brain. That is why I always emphasize that these two paths have to advance in parallel. We need therapies and we have better and better tools, but it is very important that we know exactly what we have to fix because otherwise it will be very complicated.
We have from behavioral therapies, which act by reinforcing a series of habits or changing some in children. This is not magic. When we do that, what we are doing is modifying the structure from the outside. Plus there's a lot pharmacological development, increasingly precise, and we also have a new wave of possible therapies, such as gene therapy that will give us, depending on what cases, a battery of approaches that will be very important for some disorders such as spinal atrophy. This is a paradigm because until very recently it was the leading cause of death in children from genetic causes and yet, now, with the development of gene therapies we are beginning to reverse that problem.

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