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"These findings make clear understanding of our comprehensive yet on the disease through gene transfer rate of most diseases in humans
Mr. DANIEL MACARTHUR (genetics expert)
After careful study of the gene encoding nearly 600,000 adults, the researchers at the Icahn School of Medicine in New York (USA) have discovered 13 sets of special genes. Research results just published in the journal Nature Biotechnology. Accordingly, they are carrying the gene that changes in management, they should have dangerous illnesses such as cystic fibrosis and childhood diseases cause severe bone deformities. But all are healthy again, normal.
Abnormal
The team, headed by scientist Stephen Friend, stated assumption that 13 people must have different genetic factors, to help them overcome the diseases caused by genetic changes that cause.
And if that theory is true, and if the researchers can find the causes to help them fight the disease from the gene, which can lead to innovative solutions in the treatment of this disease in people no luck as their genome.
Most previous studies have focused on understanding the cause. Researchers Friend said: "The finding of a disease gene is not like finding a solution that disease prevention."
A few years ago, he and a colleague Friend think of ideas search solutions are not at curing the disease, but in the supposed ill but somehow still normal, healthy.
And to prove the feasibility of this idea, the researchers have started to look to see whether there are people with such characteristics are not. They were scanning the genetic code of 589 306 adults from 12 different studies, focused on 874 genes linked to the disease occurs 584 times smaller. This is a genetic disease that occurs when a mutation in a single gene that point and then inherited according to Mendel's laws.
The researchers selected the disease symptoms appear shortly in small phases to minimize the risk of the disease and healthy childhood illness only in the adult stage. They also focused on diseases with obvious physical manifestations such as structural malformations of the skull or pitted skin to ensure no missed cases.
On the other hand, all of the patients studied are clearly related to a certain GMO, which means if the body does occur this genetically modified definitively that they will get sick.
At first, the research team found 15 597 people seems not hereditary disease. However, after careful selective, they found 13 cases carrying the genetic modification related to the eight kinds of diseases including cystic fibrosis, Smith-Lemli-syndrome Opitz, loss of autonomy, epidermal water polo cup , Pfeiffer syndrome, autoimmune syndrome polyline, dysplasia and degenerative bone Campomelic format.
Need verifiable fact
Ideally, the researchers need to see 13 patients to test again the stranger who has no other point in their DNA, or does not happen confusion in medical records lead to the false information about the disease. But unfortunately all written undertakings of the disease when treatment did not allow the researchers to be in touch with them. Even 13 people are not even aware that they carry in their genome a "blessed".
Because they can not pursue further study on 13 people so the research team's findings at the Icahn School of Medicine will not be tested again. Therefore, according to Mr. Friend and a specialist genetics research is that Daniel MacArthur at Massachusetts General Hospital (not participating this study), there should be further studies to reinforce more moderate results discover.
Mr. MacArthur said that in more than half a million cases, the researchers found only 13 genomes rare, which suggests that the next studies will need a huge sample size much. And accordingly, the use of these studies to find solutions to cure even more difficult.
However, experts also optimistic that as scientists worldwide collaborative research along with the database giant genes of hundreds of millions of people, it is clear they will learn a lot of information useful information about the disease-causing gene.
Life on Earth came from ... the universe?
The experts from the Institute of Chemistry of the University of Nice (France) has combined with Synchrotron Soleil basis (France) have discovered compounds containing human genome in the ice of an artificial comet.
This organic compound is ribose, which plays an important role in the structure of ribonucleic acid (RNA) of the human genome. The existence of ribose molecules added to the missing points in the explanation of the emergence of life on Earth. So it makes more hypothetical "life on Earth could have come from the universe" more sure.
Scientists have conducted experiments by creating the nebula, from which developed into artificial comet, and based on previous data by the Institute of Astrophysics Orsay done.
However, to obtain more convincing conclusions about the role of comets for life on Earth, they need to prove that comets ribose exists in nature, not just in the artificial version. Thank you for leaving valuable comments
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