“What more powerful form of study of mankind could there be than to read our own instruction book?” was proudly said by the famous physician-geneticist, Francis S. Collins on the landmark accomplishment of deciphering and mapping Human genome in the year 2003. Scientists all over the globe with major contributors like U.S.A, U.K, Japan, China, Germany, France and many others were extensively involved in a tedious 13 year research project from 1990 to 2003 with an estimated cost of around $ 3.8 billions to unravel the mystery of human genome. It is the contribution of this project that we humans now exactly know that we have around 20,000-25,000 genes in each of our body cells which are actually composition of 3.2 billion chemical bases and “dystrophin” is the biggest gene present in our body and abnormality in the sequence of these chemical bases may be responsible for various human physical and functional anomalies. [...]
The astonishing story of Human Genome
Dr. Mehnaz Mazumdar
“What more powerful form of study of mankind could there be than to read our own instruction book?” was proudly said by the famous physician-geneticist, Francis S. Collins on the landmark accomplishment of deciphering and mapping Human genome in the year 2003. Scientists all over the globe with major contributors like U.S.A, U.K, Japan, China, Germany, France and many others were extensively involved in a tedious 13 year research project from 1990 to 2003 with an estimated cost of around $ 3.8 billions to unravel the mystery of human genome. It is the contribution of this project that we humans now exactly know that we have around 20,000-25,000 genes in each of our body cells which are actually composition of 3.2 billion chemical bases and “dystrophin” is the biggest gene present in our body and abnormality in the sequence of these chemical bases may be responsible for various human physical and functional anomalies.
Once a biology teacher asked one of his student “why are girls pretty?” while taking class on genetical material of life. The student replied quickly, “Because girls are made up of sugar and candy”. The teacher couldn’t help but laughed and said, “Actually the answer is not sugar and candy but the genes which are responsible for creating a good looking or average looking person”. Infact it now known to all that genes are reasons behind our skin color, hair color, eye color, height, intelligence, reasoning, immunity, strength and everything that possibly physically and functionally makes us. It is very common to hear from elders that “he or she looks like his or her father or mother.” The obvious reason behind such comparison is again attributed to the genes which are inherited by children from their parents and hence they look similar to one of their parents or a combination of both or sometimes improvised version of both their parents. It is nothing but the beautiful working and manifestations of the genes.
To define and understand “Genome”, we can simulate it to be just like a “library”. The books in the “genome library” are the “genes”. The genes are contained in the cells which make up the human body. Every gene is different in size and the information they contain, just like the different books in the library. Like the different sections in the library, our genes are also compartmentalized into different chromosomes. We humans have 23 pairs of chromosomes. One pair contains the information from our father and the other one from our mother. Therefore, unlike libraries, where you may find more than one copy of a book, our genome has two copies of each gene (except the genes on the X and Y chromosomes which carry only one set of genes). The chromosomes which contain the genes are made up of Deoxyribonucleic acids (DNA). A mere small word “Deoxyribonucleic acid” responsible for designing the man and other organisms appears unbelievable and somewhat astonishing. Chemically, DNA is one of the simplest molecules in the cell. It is comprised of just three building blocks, nitrogenous base (which are of four types, adenine, guanine, cytosine and thymine), sugar (deoxyribose) and phosphate group strung together in enormously long strings. The residues combine to make our genes, and our genes string together to make our chromosomes. When talking about the working and expression of these genes it is more then a marvel to a common man. It is infact difficult for a commoner to understand and perceive how genes work and make something so intricate and beautiful like “Life”.
Since the onset of the discovery of human genome, innumerable interesting facts regarding human health, ancestry, disease etc are continuously emerging. Knowledge of human genome is proving to be a boon or curse is a never ending debate. Scientists at the very onset of the project believed that people will see the Human Genome Project as a tool to offer humans a better standard of life and not just a multi billion dollar project with little reward. But critics considered such enthusiastic thinking as overoptimistic and emphasized on ethical, legal and social implications associated with such undertakings. But amidst all opposition the project continued and got completed with amazing facts and findings of human genome for unquestionably a better life to posterity.
Speaking about the most obvious contribution of human genome in today’s scenario, it is the finding of the causes of various diseases and providing options for genetic medical intervention and lead to cure of such disease. It is now possible to locate genes which are responsible for causing human genetical diseases. Investigation of the DNA has helped in establishing what is currently considered to be incurable are actually caused by genetic disorders (e.g., Alzheimer’s disease) and which can only be prevented by development of revolutionary DNA medicine. Moreover, study of the genome has created new opportunities for early diagnostics and making of useful drugs with directional effect. Secondly development of gene therapy is the major outcome of human genome project. Successful gene therapy trial for Leber's congenital amaurosis (eye disease) and the development of Gleevec for chronic myelogenous leukemia (bone marrow cancer), gastrointestinal stromal tumors (GISTs) and a number of other malignancies are examples of stunning successes in these areas. Recently it was generated from the scientific desk that a "small molecule" has recently been discovered that appears to be highly effective against schistosomiasis, a debilitating parasitic disease that affects tens of millions of people around the world.
We all know cancer is a disease of the genome and in fact, the commonest genetic disease. The Cancer Genome Project, which is funded by NHGRI and the National Cancer Institute, is using data from the Human genome project and employing high throughput techniques for detecting variants/mutations in the genomes of cancer cells to identify genes critical in the development of human cancers. The plan is to build an atlas of genomic changes that will provide new insights into the biological basis of cancer, which in turn will lead to new tests to detect cancer in its early, most treatable stage, new therapies to target cancer at its most vulnerable points and, ultimately, new strategies to prevent cancer. For example, breast cancer is one disease that is being treated based on genetic information. More than a dozen genes have been associated with breast cancer, and patients can make their treatment decisions based on the knowledge this genetic testing reveals. For instance, women who have inherited the BRCA1 or BRCA2 genes in their chromosomes, have a high risk of developing breast cancer, ovarian cancer or other female cancers. Therefore, it is possible to have surgical intervention before cancers are developed.
The Human Genome Project lead to development of other projects like the International HapMap Project under which DNA samples from various ethnic groups were studied and Single Nucleotide polymorphisms (SNPs) was charted. SNPs are the change in which a single base in the DNA differs from the usual base at that position in the DNA. SNPs study confirmed that genetic code differs from person to person at around 10 million points (out of 3.2 billion DNA base pairs). But despite these SNPs, human beings only differ from one another by about 0.1 percent, enough to ensure that no two human beings are genetically identical, even, sometimes, identical twins. Understanding SNPs has help understand genetic variation better among individuals and ethnic groups.
Scientists now know the minimum number of genes required for life to emerge and makes it easier to determine what actually life is. The genome knowledge gives insight to interaction in biological systems, which can be useful to predict environmental change. It also provides a profound understanding of common genetic basis of all living creatures and humans, explaining the evolution of man and showing our place in the natural systems.
Study of comparative genomics which is the study of relationships between the genomes of different species or strains of the same species is creating grounds for study of human genome by analogy with the animal genome. Researchers have learned a great deal about the function of human genes by examining their counterparts in simpler model organisms such as the mouse. According to Dr. Collins, almost 30 mammalian genomes have been sequenced to date and many more are on the way. As the result of a revolution in DNA sequencing technology, particularly in the last several years, he said that sequencing genomes is becoming increasingly faster and easier, so much so that the amount of data being generated is almost overwhelming.
Genetic investigations are also highly applicable in the forensic science, for example for identification of individuals and using of their genetic material as evidence. Even small pieces of skin, drops of blood or other material allow to create a DNA profile (or DNA fingerprint), which can be used for identification of both criminals and their victims. Among other advantages one should not forget the gain in energy technologies, agriculture and food production. Genome research is contributing to development of new types of fuels (biofuels), genetically modified foods as well as reduction of environment pollution. Understanding of plants and animals genetic structure, combined with knowledge of human genome is allowing producing new types of nutritious food with preprogrammed features. Scientists are manipulating genes and producing crops and cattle’s of better productivity and nutrition.
Frequently Asked Questions about "The Astonishing Story of Human Genome"
What is the Human Genome Project?
The Human Genome Project was a 13-year international research effort (1990-2003) that aimed to decipher and map the entire human genome. It involved scientists from the U.S.A, U.K, Japan, China, Germany, France and other countries and cost approximately $3.8 billion.
How many genes do humans have?
Humans have approximately 20,000-25,000 genes in each body cell.
What is the human genome composed of?
The human genome is composed of 3.2 billion chemical bases.
What is the biggest gene present in the human body?
The biggest gene in the human body is called "dystrophin".
Why do children resemble their parents?
Children resemble their parents because they inherit genes from them. These genes determine physical characteristics such as skin color, hair color, eye color, and height.
What is a genome, and how is it organized?
A genome is like a library, with genes as the books. Genes are organized into chromosomes, with humans having 23 pairs of chromosomes. Each chromosome contains DNA, which is made up of nitrogenous bases, sugar (deoxyribose), and phosphate groups.
What are the benefits of understanding the human genome?
Understanding the human genome can lead to:
- Identification of genes responsible for human genetic diseases.
- Development of gene therapy.
- Early diagnostics and development of directional drugs.
- Better understanding of the biological basis of cancer, leading to new treatments and prevention strategies.
- Insights into the evolution of humans and their place in natural systems.
What is the Cancer Genome Project?
The Cancer Genome Project aims to identify genes critical in the development of human cancers by analyzing the genomes of cancer cells. This project aims to create an atlas of genomic changes in cancer cells to develop new ways to detect, treat, and prevent cancer.
What are SNPs, and how are they studied?
SNPs (Single Nucleotide polymorphisms) are variations in the DNA where a single base differs from the usual base at that position. The International HapMap Project studied DNA samples from various ethnic groups to chart SNPs, helping understand genetic variation among individuals and ethnic groups.
How does comparative genomics contribute to our understanding of the human genome?
Comparative genomics studies the relationships between the genomes of different species. By examining counterparts of human genes in simpler model organisms, such as mice, researchers learn about the function of human genes.
What are the applications of genetic investigations in forensic science?
Genetic investigations are used in forensic science for identifying individuals and using their genetic material as evidence. A DNA profile (or DNA fingerprint) can be created from small pieces of skin, drops of blood, or other materials, aiding in the identification of both criminals and victims.
What are the potential benefits of genome research in energy, agriculture, and food production?
Genome research is contributing to the development of new types of fuels (biofuels), genetically modified foods, and the reduction of environmental pollution. Understanding the genetic structure of plants and animals, combined with knowledge of the human genome, is allowing for the production of new types of nutritious food with preprogrammed features.
- Quote paper
- Mehnaz Mazumdar (Author), 2011, The astonishing story of Human Genome, Munich, GRIN Verlag, https://www.hausarbeiten.de/document/176333
