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1000 genome project decoded genome

1000 genome project decoded genome

1000 genome project: Mega gene database to help research disease

As part of the international 1000 genome project, researchers have succeeded in decoding gene sequences from more than 1000 people. The data is publicly available on the Internet in a so-called “mega-gene database” and is intended to help research diseases such as cancer. So far, the DNA has been read by people from a total of 14 population groups.

Many diseases are affected by genetic material. The 1000 genome project is an international research project that aims to create a detailed catalog of human genetic variations. The scientists hope to get "information on the development of genetically caused diseases". In addition, "new medical therapies could be derived from the findings". So far, the DNA of 1092 people from 14 population groups has been sequenced, the researchers report in the journal "Nature". They place great hope in the medical possibilities that the "Mega gene database" contains, it is said. Ralf Sudbrak and Hans Lehrach from the Max Planck Institute for Molecular Genetics (MPIMG) report that many diseases such as diabetes or cancer would be influenced by numerous genes and environmental factors. In addition, "genetic differences between individual population groups" could be determined.

According to their own statements, the project database currently contains data from people from all over the world, down to the continent of Australia. The scientists write: "This is how genetic abnormalities of individual people or groups of people can be assessed against the background of genetic variations in the different population groups".

1000 genome project decodes genetic material In only 0.1 percent of DNA, humans are said to differ from one another. Accordingly, this seemingly minor difference is responsible for the fact that certain people suffer from an illness and others do not. The genetic makeup also influences the effectiveness of medication. According to the researchers, the gene database helps “to research these complex differences and to understand them better”.

More than 100 researchers are involved in the project, which started in 2008. "For the first time, the study provides a comprehensive map of the human genome, which shows how often different variants occur at a specific point in the genome," reports Jan Korbel from the European Molecular Biology Laboratory (EMBL) in Heidelberg. "The investigation is high scientific value because it helps us to understand the genome better, "adds the scientist who is involved in the study. Biomedical research can now rely on an extensive data and reference source.

When researching cancer, the database could be used to determine, for example, in which part of the DNA differences between healthy and sick people occur. In addition, scientists could identify other genetic abnormalities that are related to medically relevant genes or generic changes. In this way, new knowledge about existing as well as new therapies could be gained. However, not every small change in DNA is associated with a disease. In most cases, "small genetic changes have no consequences".

Pharmaceutical research often only takes place on the genetic makeup of Europeans or Americans. Another area of ​​application for the gene database is pharmaceutical and biomedical research. "Today, new medications and therapies are mostly tested on Europeans or Americans with European roots," explains Jan Korbel. Medicines would not necessarily have the same effect on Africans and Asians. A specific, frequently occurring gene variant could influence the effectiveness of medication This is why it is so important to have sequence data that is as global as possible, which helps researchers find indications of possible problems in advance. "

Using their sequencing methods, researchers can record variations that only occur in a person of one hundred or less, for example. The scientific team was able to find rare gene variations in small regions, but they were able to detect frequent deviations worldwide. The research showed that everyone has hundreds of rare gene variants that significantly influence the work of the genes, said researcher Gil McVean from Oxford University in England. The study has already put two to five rare gene deviations into context.

Potential cancers can hardly be identified as a risk. Critics warn against overly high expectations. For example, scientists also have to admit that reading the genetic material provides only a limited possibility of "predicting a risk of developing a disease," as they write in the journal "Science Translational Medicine". For example, an increased risk of cancer can often not be identified because "it is seldom in the genes". If cancer is common in families, the decoding of the entire genome cannot help because most types of cancer do not arise from cell mutations, but through "lifestyle, environmental factors and accidental genetic errors in cell division", says Kenneth Kinzler from the Ludwig Center at Johns Hopkins Medical Institution.

Alzheimer's and type 1 diabetes could be identified Nevertheless, more than 75 percent of the patients at risk could be identified in a total of four diseases. According to the team, this includes diseases of the coronary arteries in men that can lead to a heart attack, autoimmune diseases of the thyroid (overactive thyroid), type 1 diabetes and Alzheimer's.

The research project is not yet to be concluded. Although the actual goal of the 1000 genome project has already been achieved, the scientists want to continue and aim to sequence another 1,500 out of 12 new populations for the next phase of the project. This should enable even more intensive research in the future. (ag)

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Image: Gerd Altmann, Pixelio

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