Scientists have created the first complete ‘sequence’ of the human genome. Now it will be easier to detect diseases caused by genetic variation and mutation in the world’s eight billion population. It is the genome that decides whose body will be like and how it will work. Prior to this recent success, in 2003, scientists announced the creation of a complete sequence of the human genome under the Human Genome Project.
At that time, they could not read about eight percent of the genome. Evan Eichler, a scientist at the University of Washington in the US, who conducted the latest research and worked on the 2003 Human Genome Project, said, ‘Some of the genes that make us uniquely human are the dark matter (the part of the genome about which we are talking about). I have little knowledge), and they were missing. It took us more than 20 years, but we found them out. This research was completed last year. It is published in the April 2022 issue of the journal ‘Science’.
According to scientists, complete knowledge about the genome will increase the understanding of the origin and biology of humans. Apart from this, it will help in the assessment of aging, nervous system, cancer and cardiovascular diseases. Eric Green, director of the National Human Genome Research Institute (NHGRI), the US government organization that funded this research, has described it as a unique scientific achievement.
This is a joint effort of many scientific institutions of America. The National Human Genome Research Institute (USA), University of California, University of Washington together formed a scientific consortium. Named Telomer to Telomer (T2T). Telomeres are thread-like structures located on the sides of chromosomes that carry genetic information.
Adam Philippi, senior member of T2T and scientist at NHGRE, said that in the future, when we sequence someone’s genome, we will be able to tell what is different in their DNA and this will lead to better health care for them. When the Human Genome Project was completed in 2003, scientists had made 92 percent of the genome sequence. It took 20 years to make the remaining eight percent. There were three main reasons for this.
The first reason is size. There are about 3.055 billion base pairs in our body. If they were printed in readable size, then its length would be about 2580 kilometers. It is not easy even for modern technology to process such a long sequence. Second, parts of our genome repeat themselves over and over again. Now technology has made it easier to identify these double parts. The cost of DNA sequencing has come down. The work which used to cost millions of dollars, is now being done in a few thousand.
There are about 30,000 genes in the human body. These genes, divided into 23 groups called chromosomes, are found in the nucleus of every cell. Of these, 19,969 genes make up proteins, which are the basis of processes in the human body. T2T has also found 2000 new genes in new research. Most of these don’t seem to have an effect. Scientists have also discovered about two million new genetic variants, 622 of which are associated with genes that affect our health. The next step for the scientists would be to trace the patterns of variation in these genes.