Human Genome

What Is Human Genome Project?

The Human Genome Project (HGP) was one of the great feats of exploration in history an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes together known as the genome of members of our species, Homo sapiens.

AIMS :

• to provide a complete and accurate sequence of the 3 billion DNA base pairs that make up the human genome and to find all of the estimated 20,000 to 25,000 human genes. 

• To sequence the genomes of several other organisms that are important to medical research, such as the mouse and the fruit fly.

• To store the DNA in a database available to anyone on the internet.

• Developing computer programs to analyze the data, presentation of additional data, genome annotation and powerful tools for visualizing and searching it

• Generating a reference genome to be used as in the future for identifying differences among individuals.

• To develop new tools to obtain and analyze the data and to make this information widely available. 

• To exploring the consequences of genomic research through its Ethical, Legal, and Social Implications (ELSI) program.

BENEFITS :

• Clear practical results project emerged even before the work was finished.
• There are also many tangible benefits for biological scientists. For example, a researcher investigating a certain form of cancer may have narrowed down his/her search to a particular gene. 
• By visiting the human genome database on theWorld Wide Web, this researcher can examine what other scientists have written about this gene, including (potentially) the three-dimensional structure of its product, its function(s), its evolutionary relationships to other human genes,
• Deeper understanding of the disease processes at the level of molecular biology may determine new therapeutic procedures.
• The analysis of similarities between DNA sequences from different organisms is also opening new avenues in the study of evolution.

3D illution of the Human Genome Project

ACHIEVEMENTS :

PAST

• In 1953, James Watson and Francis Crick described the double helix structure of deoxyribonucleic acid (DNA), the chemical compound that contains the genetic instructions for living organisms.
• In 1970s, Methods to determine the order, or sequence, of the chemical letters in DNA were developed
• In 1990, the National Institutes of Health (NIH) and the Department of Energy joined with international partners in a quest to sequence all 3 billion letters or nucleotides base pairs that made up the human genome. This concerted, public effort was the Human Genome Project.
• From the start, the Human Genome Project supported an Ethical, Legal and Social Implications research program to address the many complex issues that might arise from this science.
• All data generated by the Human Genome Project were made freely and rapidly available on the Internet, serving to accelerate the pace of medical discovery around the globe.
• The Human Genome project spurred a revolution in biotechnology innovation around the world and played a key role in making the U.S. the global leader in the new biotechnology sector.
• In April 2003, researchers successfully completed the Human Genome Project, under budget and more than two years ahead of schedule.

PRESENT

• The Human Genome Project has already fueled the discovery of more than 1,800 disease genes.
• Researchers can find a gene suspected of causing an inherited disease in a matter of days, rather than the years it took before the genome sequence was in hand.
• There are now more than 2,000 genetic tests for human conditions. These tests enable patients to learn their genetic risks for disease and also help healthcare professionals to diagnose disease.
• At least 350 biotechnology-based products resulting from the Human Genome Project are currently in clinical trials.
• Having the complete sequence of the human genome is similar to having all the pages of a manual needed to make the human body. The challenge now is to determine how to read the contents of these pages and understand how all of these many, complex parts work together in human health and disease.
• In 2005, the production of the HapMap , which is a catalog of common genetic variation, or haplotypes, in the human genome. 
• In 2010, the third phase of the HapMap project was published, with data from 11 global populations, the largest survey of human genetic variation performed to date. HapMap data have accelerated the search for genes involved in common human diseases, and have already yielded impressive results in finding genetic factors involved in conditions ranging from age-related blindness to obesity.
• With the drastic decline in the cost of sequencing whole exomes or genomes, groundbreaking comparative genomic studies are now identifiying the causes of rare diseases such as Kabuki and Miller syndromes.
• Pharmacogenomics is a field that looks at how genetic variation affects an individual’s response to a drug.

FUTURE

• An ambitious new initiative, The Cancer Genome Atlas, aims to identify all the genetic abnormalities seen in 50 major types of cancer.
• Based on a deeper understanding of disease at the genomic level, we will see a whole new generation of targeted interventions, many of which will be drugs that are much more effective and cause fewer side effects than those available today.
• NIH-supported access to high-throughput screening of small molecule libraries will provide academic researchers with powerful new research probes to explore the hundreds of thousands of proteins believed to be encoded by the approximately 25,000 genes in the human genome, and will provide innovative techniques to spur development of new, more effective, types of drugs.
• NIH is striving to cut the cost of sequencing an individual’s genome to $1,000 or less. Having one’s complete genome sequence will make it easier to diagnose, manage and treat many diseases.
• Individualized analysis based on each person’s genome will lead to a powerful form of preventive, personalized and preemptive medicine. By tailoring recommendations to each person’s DNA, health care professionals will be able to work with individuals to focus efforts on the specific strategies — from diet to high-tech medical surveillance — that are most likely to maintain health for that particular individual.
• The increasing ability to connect DNA variation with non-medical conditions, such as intelligence and personality traits, will challenge society, making the role of ethical, legal and social implications research more important than ever.

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What is Human Genome?

The human genome is the complete set of genetic information of humans. They are made up of 23 pairs of chromosome with approximately 3 billions DNA base pairs. There are 24 distinct human chromosome, which are 22 autosomal chromosome, sex-determining X and Y chromosomes.

Chromosomes number 1 to 22 are numbered roughly in order of decreasing of size. Somatic cells usually have one copy of chromosomes number 1 to 22 from each parents and also the X-chromosomes from the mother and either X or Y-chromosome from the father. 

The human genome comprises a sequence approximately 3 billion parts, or called as nucleotides. the nucleotides are organised into DNA molecules or the Double Helix. The nucleotides are present as alphabet with just four letters: A,C, G and T. This is correspond to A (Adenine), C (Cytosine), G (Guanine), and T (Thymine). The nucleotides alphabets codes for the sequence of amino acids that the body use to build proteins.

There are an estimated 20,000-25,000 human protein-coding genes. The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved, and could continue to drop further.

Human Genetic Disorder

Most aspects of human biology involve both genetic (inherited) and non-genetic (environmental) factors. Some inherited variation influences aspects of our biology that are not medical in nature (height, eye colour, ability to taste or smell certain compounds, etc.). Moreover, some genetic disorders only cause disease in combination with the appropriate environmental factors. With these caveats, genetic disorders may be described as clinically defined diseases caused by genomic DNA sequence variation.

Disease-causing mutations in specific genes are usually severe in terms of gene function, and are fortunately rare, thus genetic disorders are similarly individually rare. Please be noted, there are many different kinds of DNA sequence variation, ranging from complete extra or missing chromosomes down to single nucleotide changes. It is generally presumed that much naturally occurring genetic variation in human populations is phenotypically neutral, i.e. has little or no detectable effect on the physiology of the individual (although there may be fractional differences in fitness defined over evolutionary time frames). Genetic disorders can be caused by any or all known types of sequence variation.