Typical Yakut hereditary disease: thoughts about
Geneticist: there will be more hereditary diseases in the world
In Yakutia, geneticists are preparing a publication about a hitherto unknown disease in which children live up to a maximum of three years. The cause of early death is an irreversible metabolic disorder. Of the 16 patients found, two are alive today, the Ogonyok magazine writes.
Human gene research projects are among the most ambitious, expensive and popular in modern science. Scientists see in genes the very code, having solved which, it will be possible to seriously change the quality of life.
According to the head of the Department of Medical Genetics of St. Petersburg State Pediatric Medical University Evgeny Imyanitov, scientists will discover new hereditary diseases.
"It is not the number of diseases that is growing, but the amount of our knowledge about genetic diseases. It's just that many similar cases went unnoticed before, because there were no diagnostic methods. Now a colossal event has occurred – one of the most important in biomedicine over the past 25 years: the so-called "complete genomic sequencing" has appeared. Taking blood from any person, we can fully determine the features of the genetic background, all the features of DNA that we know about. And as a result, the number of hereditary diseases that will simply become known thanks to these searches by scientists will increase," Yevgeny Imyanitov said on Sputnik radio.
In his opinion, the discovery of Yakut geneticists is important not only for a part of a particular people living separately, but also for science as a whole.
"It is not by chance that these studies are well organized and conducted in Yakutia. Every nation has predecessors who brought their own pool of mutations, a pool of genetic cargo. When a national community is relatively isolated (and this is what happens in Yakutia due to difficult living conditions), it has an increased number of mutations. And this is due to closely related marriages. It is extremely important to study such cultures, because it is important for them, but it is also a testing ground for basic medical research," the scientist believes.
According to him, medical genetics has learned to treat some hereditary diseases, but, more importantly, to prevent them.
"There are three situations: the first is when there are no treatment methods yet, but the birth of children with hereditary diseases can be prevented by studying the parents' gene pool. The second case is when effective therapy has appeared, in particular, substitution therapy. There is such a thing in medical genetics, for example, when there is not enough enzyme, it is introduced as a medicine from the outside. And the third option is preventive measures. The most sensational example of medical genetics is Angelina Jolie, who has hereditary breast cancer. She made preventive diagnostic measures that made the situation more manageable. Now there are a huge number of rare diseases, their number is measured in thousands, so there can be no universal approach, there are always their own characteristics for each specific disease. Alas, each of us is a carrier of 8 to 12 pathogenic mutations," said Evgeny Imyanitov.
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19.10.2015