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Giovanni Poletti

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He or it has allowed us to ... conquer the skies, carrying hundreds of people in a few hours from one continent to another. And we don't have wings. Build ships that carry thousands of tons in the oceans. And do not sink like a stone. Now we build stations to explore new worlds. It sounds like a trite word, well. More than 40 years ago, we were there. And we brought stones. And we were not there once, but several times. And now we think about going again. And not only to the moon. To Mars. But when it fails, it can make life a living hell. Neurodegenerative diseases like Alzheimer's, Parkinson's. Or mental illnesses such as schizophrenia or manic depression can make a person's life is really ... ugly. And not only for the person. The family around. Seeing this family member is going away slowly and we can not retain them. A person who previously could talk, speak, live with us. Slowly, goes out like a candle. And do not think that it is rare. It is very common. In the case of mental illness, Of every 100 people that you can watch. Between one to three people suffer from schizophrenia or bipolar disorder. Of every ten people, four suffer from depression. It is not uncommon. The worst thing is when you go to the doctor with one of these mental illnesses. The doctor has to make a great achievement to reach a diagnosis. Because the symptoms in these mental illnesses overlap as seen in this picture. Imagine that a doctor has a patient who has these symptoms here. What does he have? What do you give him? How do I treat him? What medicines will I give them? It's a challenge to reach the diagnosis. Okay: it's nice when one falls in the center of the figurine of each of the colors. But it's not always like that. Nor do we have a test lab like when you go and get a "blood glucose" test to find out if you are diabetic or not. We don't have a test like that. Nor images, or scans, or MRIs that can tell us 100% which disease it is. But what do we know? We are not so bad. We know they are diseases ... genetically transmitted. When a person suffers from a mental illness it's very likely to have a close relative who also suffers from a mental illness, not necessarily the same. But yes, very close. Compared to other diseases. So let's see. What is the impact of genes on the disease. What is the value of the gene to carry a person to have a disease. Then the best experimental design done many years ago. It consisted in studying identical twins and check, on the other brother, if one suffered from bipolar disorder, the other would have to have the disease, since they share 100% of the genes. And in the case of semi - identical twins, who are common brothers that only shared the uterus should have a chance of 50% the other brother, of having the same disease. We noticed with surprise that it was not. Only 62%. None came to 100. And none on the other side was 50. So, is it genetic or not? Yes, of course it is. Of course it is. But it's not the only thing that triggers the disease. And that makes things more complicated. With these results ... we can conclude definitely Genes have an important value. But, however, there is another factor that is not genetic, that could trigger the disease. And what we have also learned is that there isn't a single gene But unfortunately it is many, and we do not know which ones are them. Nor how much of each one is needed. And in what combination. And we're working on it now a days. To explain and round a little the idea. Genes are the information on where there is everything that has to be done for our body to function. When genes are transcribed create proteins. And it is this protein that are endophenotypes, that we can not see but is there. Produces features that we see, which is the phenotype. It is when these proteins are not working that diseases appear. So now, with what I'm saying, the environment where the person develops, can modulate both genes and proteins that can be processed for triggering the disease. Although they didn't previously exist. There is a modulator from there. And if we now add that one can have many lottery tickets. The probability that one is more vulnerable or less vulnerable is in the inheritance we received from our parents. Well, it's not a tragedy but we are working to do that. A project where I am participating with other partners around the world. We are collecting thousands of genes, initially. Now we are in 2500 genes. Samples of volunteers from all around the world. At least 70 families of each of these locations. Have contributed their genes to see how parents ... deliver genes to their children. And how they receive them. What for? To make the next step of what was done with genetic mapping 10 years ago or so. We're going to make a sequencing, not so rude now. But much finer. We're going to find subtle differences subtle or the most common parts to find and understand what occurs in each one of those, the genetic code of each person. Another beautiful work is the project "Candela". This project is being done in Latin America. Five countries. 7500 volunteers. And we are seeing an experiment that, gentlemen, ladies, has started 100,000 years ago and we are at the right time, accurate, ideal to see what is what is happening. I'll tell you. It all starts here. When human beings left Africa 100,000 years ago ... when there was global warming, do not panic, there were several. The Sahara became a beautiful forest and not a desert. Opening its doors so men could leave Africa. But it took many years to populate the Earth slowly. Occupying it, expanding themselves. In glaciers, weather changes, overheating again. Cataclysmic explosion of a mountain, a volcano, Mount Toba. Almost disappeared humanity and left 10 000 humans across the planet. It was not enough to remove them. But, it had an impact on us. During all those years, occupying each one of these regions of the planet made a selective pressure on us and made us change, genetically, to be adapted to survive in these areas. And that is why there are races. Human subjects that work very well in places where they adapted. America was not far behind. But obviously we did not generate a distinct race. But subtle genetic changes in each of these populations. While we were moving, occupying the entire American continent. But suddenly, in this story, something happened. In 1492. Europeans arrived. A gene that was isolated from Amerindian genes by almost 70 thousand years, was mixed at once. Then came the African genes. They were separated 100,000 years. And then came the Asians who were separated 40 thousand years. And each penetrated with some force on the Amerindian genes. And there are only twenty generations. 500 years. Since this has happened. And what are we doing? We are leveraging to see how these genes have been mixed, that mix is forming at this time on us. In our continent. Taking photos to take measurements of the shape, the phenotype, skin color, height, weight, body circumference. What for? To be mapped to a blood sample each of these donors. And give the doctor an advantage. When you go to be treated for a disease you should recieve a treatment. If I have many people with the same disease and I give them the right treatment, many are going to heal. But there is a subgroup of people who do not improve as quickly. So what do I have to do? In many cases it is simply to regulate the dose. Raise it. But, at the same time, there is a subgroup of individuals who still do not respond well. What do I have to do? Give them additional treatment. Well, does not seem so much tragedy but Wouldn't it be much better if you go to the doctor, while you are explaining your symptoms and the doctor is coming ... to a diagnosis, he could see the genes you have? To know if the medicine he will give you will work well on you. Unfortunately, there is a magnifying glass that can do that. It would be nice. But there is a device that everyone has. A camera phone. Imagine that the doctor takes a photo. While he deals with the medical part, he sends it over the Internet and in a few moments receives this. A template where it says "he has this much of african," "he has this much of amerindian", "he has this much of european", "this much of asian" ... and therefore will respond well to this, this these and these drugs. We do not recommend this, this and this treatment because it might not work. That is what we now know as pharmacogenetics. And it's where we go. Where we want to get. New therapies, improved and customized. For each one of them. That's what I do. That's what we're doing here in Peru. Participating in a global effort. What can you do to help? Don't look at us like that. (Laughs) Yes, right? The first thing that occurs to you. But no, we do not want that. We want prosperity. The electric motor. The first atomic pile. The first polio vaccine The discovery of the DNA structure. The inventor or the one who developed the first cell phone. Or the one that made that memory stick that everyone already, if I'm not mistaken all have one in your pocket. Or at least a phone. All of them are just like us. You just need to want to do something. Thank you.

Video Details

Duration: 14 minutes and 20 seconds
Country: Peru
Language: Spanish (Spain)
License: All rights reserved
Genre: None
Views: 63
Posted by: michaelb on Jan 17, 2012


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