16 June 2009

All the genes of all diseases in one database

All the diseases of the world were collected in one place
Alexey Timoshenko, NEWSPAPERAmerican doctors and geneticists have created a website that contains information about the connection of certain genes with various human diseases.

This resource will allow scientists to conduct more rapid research of diseases.

The HEFalMp project of scientists from Olga Troyanskaya's group at Princeton University has become part of the revolution in medical and biological science that has been taking place in recent years. Data on the function of genes and their activity in various diseases are now collected in one database, and everyone can get acquainted with them. Stomach cancer, autism, schizophrenia, asthma, osteoporosis – this list is far from complete.

Changes have occurred in the genes

In recent years, reports about the discovery of the role of a particular gene in a disease have been received regularly. So, last week, on June 11, it became known that a single mutation in the FOXL2 gene leads to a rare type of ovarian cancer. Today, on June 15, a message was published that at least 51 genes are responsible for the development of various types of breast cancer. At the same time, medical journals constantly inform about the progress in the field of medical genetics.

Accurate knowledge about the presence of certain forms of specific genes in a patient can not only assess the likelihood of cancer. This knowledge can be useful when selecting medications in order to reduce side effects. Knowing which genes work in tumor cells or are responsible for the development of atherosclerosis, it is possible to choose drugs that will reduce their activity.

Unified file system

For the medicine of the future, it is not enough just to be able to "read" DNA quickly and cheaply. This speed and cheapness has already made it possible, for example, to search for a single cancer-causing error among three billion pairs of nucleotides. For effective use, all this information must be available promptly and from anywhere in the world.

This problem is solved by creating public resources. For example, if you collect the genetic code of swine flu viruses from the very beginning of the epidemic in one place, then you can compare the new analysis results with those previously obtained and quickly detect the mutation. There are resources on the genes of mice, fruit flies and other organisms, including humans, there is even a map of gene activity in the mouse brain. But there was no single resource on diseases until today.


The interface of the new project can be called accessible as much as their medical card is available to most patients. Perhaps, adjusted for the illegible handwriting of the doctor, the online database on genes and diseases is even more understandable: on its main page, you can select a gene, disease or a specific biological process. Then click "Search" and see, for example, a list of all the genes that scientists have associated with a particular disease. The list will have red, yellow and green numbers next to the names of the genes.

Red indicates a reliable connection, yellow indicates a suspect, green indicates that no connection has been found. If, on the contrary, you write a gene and click search for diseases, then diseases sorted by the same attribute will line up in the column. However, the newest data in this
the base may still not be hit.


In 1990, the Human Genome project was launched. In ten years, researchers have read the complete genetic code for the first time in human history. It cost three billion dollars to the Institute of Genomic Research in the USA and 300 million to Craig Venter's company Celera. In both cases, there was no talk of mass reading yet.

But already in 2008, a full reading of the genome began to cost 300 thousand dollars – that is, it fell a thousand times in eight years. The National Institute of the Human Genome in the USA promises to reduce the cost even more, to 100 thousand by the end of 2009 and only to a thousand dollars by 2014.


In the next ten years, knowing your genes may become as routine in developed countries as information about the content of hemoglobin in the blood. DNA analysis will be done once and provide enough information for doctors throughout their lives. Anticipating this, the United States has already passed laws on the non-disclosure of genetic information and the prohibition of discrimination on genetic grounds.

The act, called GINA (Genetic Information Nondiscrimination Act), stated that neither an employer nor an insurance company can use data on the genome of employees or insured persons to, for example, dismiss an employee predisposed to schizophrenia or raise the cost of insurance for a person at high risk of getting lung cancer. In 2008, at the time of signing, these measures might have seemed premature, but it is already becoming clear: the genetic revolution is not just coming, it is already moving in full swing.

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