1000 genome project decrypted genome

1000 Genome Project: Mega gene database to help in disease research

02/11/2012

As part of the international 1000 genome project, researchers have been able to decipher gene sequences of more than 1,000 people. The data are in a so-called „Mega gene database“ publicly available on the Internet and to help in the study of diseases such as cancer. So far, the DNA has been read by humans from a total of 14 population groups.

Many diseases are influenced by genetic material
The 1000 Genome Project is an international research project that aims to produce a detailed catalog of human genetic variations. The scientists are hoping for it „Indications of the development of genetic diseases“ to obtain. In addition, could „derive new medical therapies from the findings“. So far, the DNA of 1092 people from 14 populations has been sequenced, the researchers report in the journal „Nature“. They put great hope in the medical possibilities that the „Mega gene database“ includes, it goes on. Because many diseases such as diabetes or cancer would be influenced by numerous genes and environmental factors, report Ralf Sudbrak and Hans Lehrach from the Max Planck Institute for Molecular Genetics (MPIMG) in a post. In addition, could „genetic differences between individual populations“ be determined.

In the database of the project are according to own data currently of people from all over the world up to the continent Australia. The scientists write: „Thus, genetic abnormalities of individuals or groups of individuals can be evaluated against the background of genetic variations in the various population groups“.

1000 genome project decodes genetic material
In only 0.1 percent of the DNA humans should be different from each other. Thus, this seemingly small difference is responsible for the fact that certain people suffer from a disease and others do not. The effectiveness of medicines is also influenced by the genetic material. The gene database help according to researchers, „to explore and better understand these complex differences“.

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 site of the genome, "says Jan Korbel from the European Molecular Biology Laboratory (EMBL) in Heidelberg. „The study has a high scientific value because it helps us to better understand the genome, "adds the scientist involved in the study, adding that biomedical research can now rely on a comprehensive data and reference source.

For example, when researching cancer, the database would help identify what part of the DNA differentiates between healthy and diseased people. In addition, scientists may identify other genetic abnormalities associated with medically relevant genes or generic alteration. This would provide new insights into existing as well as new therapies. However, not every small change in DNA is associated with a disease. In most cases „small genetic changes have no consequences“.

Pharmaceutical research often takes place only on genetic material from Europeans or Americans
Another area of ​​application for the gene database is in pharmaceutical and biomedical research. „Today, new drugs and therapies are mostly tested on Europeans or Americans with European roots, "said Jan Korbel, adding that for Africans and Asians, medications would not necessarily work the same, so a particular, common gene variant could affect drug efficacy. „That's why it's so important to have global sequence data as possible. This helps researchers to find clues to possible problems in advance. "

With their sequencing methods, researchers can detect variations that occur, for example, only in a person of one hundred or less. Although the scientific team was able to find rare genetic variations in small regions, they were able to detect common deviations worldwide. The research showed that every human being has hundreds of rare gene variants that significantly affect the work of genes, said researcher Gil McVean from Oxford University in the UK. Two to five rare gene deviations could already be brought into context by the study.

Potential cancer can hardly be traced as a risk
Critics warn against too great expectations. Thus, the scientists must admit that the reading of the genetic material provides only a limited possibility, „to predict a disease risk“, as they write in the journal "Science Translational Medicine". For example, an increased risk of cancer can often not be identified because „these are rarely in the genes“. If cancer spreads in families, the decoding of the whole genome can not help, because most cancers are not caused by cell mutations, but by „Lifestyle, environmental factors, and random genetic errors in cell division“, Kenneth Kinzler from the Ludwig Center of the Johns Hopkins Medical Institution.

Alzheimer's and Type-1 diabetes could be identified
Nevertheless, more than 75 percent of the endangered patients were identified in four diseases. According to the team, these include diseases of the coronary arteries in men who can lead to a heart attack, autoimmune diseases of the thyroid (hyperthyroidism), diabetes type one and Alzheimer's.

The research project should not be finished yet. While the true goal of the 1000 Genome Project has already been achieved, the scientists still want to continue and plan to sequence another 1500 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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Picture: Gerd Altmann, Pixelio