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HUMAN GENOME PROJECT
HUMAN GENOME PROJECT

HUMAN GENOME PROJECT

What is it that makes us unique but similar at the same time, the answer can possibly be DNA(Deoxyribo Nucleic Acid) it holds the blueprint of a Homo Sapien, this incredible genetic material stores the information about how you and I are formed and how we function. I find that fascinating. I am sure, so do you. But more than us an international team of scientists were curious to draft out all the information store in the DNA. This lead to a one of world’s largest collaborative biological project. This was an expedition to the core of a human being, if you will.

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What is HGP?

The Human Genome Project (HGP) was the international, collaborative research program whose goal was the entire mapping and understanding of all the genes of citizenry . All our genes together are referred to as our "genome."

What is genome ?

A genome is an organism's complete set of desoxyribonucleic acid (DNA), a compound that contains the genetic instructions needed to develop and direct the activities of each organism. DNA which is a double helix is made up of nucleotide bases, a chemical unit. There are four nucleotide bases Adenine (A ), thymine (T), cytosine (C), guanine (G). The human genome contains approximately 3 billion of those base pairs, which reside within the 23 pairs of chromosomes within the nucleus of all our cells. Each chromosome contains hundreds to thousands of genes, which carry the instructions for creating proteins. Each of the estimated 30,000 genes within the human genome makes a mean of three proteins.

Initialisation and Funding

IMAGE The idea was first picked up by the US government back in 1984, and thus began the deliberation of multiple researchers from various countries to provide a proper platform to HGP for active researching. The project was publicly funded by two US agencies Department Of Energy (DOE) and National Institute of Health (NIH) ended up funding and initiating the project in 1990, it was 13 year long project, the cost came to be 3 billion USD (300 crores roughly)

Whose DNA was sequenced ?

The euchromatic portion of the DNA was sequenced as part of HGP that amounts for 92.1% of the human genome. DNA Sequencing means determining the precise order of the bottom pairs during a segment of DNA. Considering human genome was required to be sequenced, it was pertinent to have volunteers. The sequence was derived from the DNA of several volunteers. To ensure that the identities of the volunteers can't be revealed, a careful process was developed to recruit the volunteers and to gather and maintain the blood samples that were the source of the DNA.

Goals and Discoveries

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  • Identification of all the approximately 20,000 genes found in human
  • Determination of sequences of 1.2 billion base pairs that make human DNA
  • Determination of functions of all the human genes
  • Store this information in database, if this information were to be published it would take 3300 books, each book containing 1000 pages and each page a thousand letters. This is curiously a large amount of information stored in a single cell.
  • Improve tools for data analysis, it is equally important to have the right kind of tools to understand and derive conclusions from the study of our nucleotide base pairs, this is the absolute pre-requisite to read the manual to human body that is the HGP. To determine the way to read the contents of of these pages then understand how the parts work together and to get the genetic basis for health and therefore the pathology of human disease.
  • Address the ethical, legal and social issues (ELSI) that may arise from the project.
  • Salient features of Human Genome Project

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  • The human genome contains 3164.7 million nucleotides
  • More than 99.9% of the nucleotide bases are identical in everyone. That is what accounts for the major similarities in the species homo sapiens
  • Less than 0.1% of our DNA accounts for inherited difference among humans, and this miniature amount of DNA adds up to be the secret ingredient that makes you, You. This is the reason why our eye colour is different than the Europeans and why you can curl your tongue in a weird fashion. It is all because of a slight change in the sequence of the genome.
  • As surprising as it is a lot of human genome is just repeated sequences that do not code for any proteins and hence are called junk DNA
  • The largest known human gene consisting of 2.4 million nucleotides, codes for the protein dystrophin.
  • Scientists have identified about 1.4 million locations where single base DNA differences occur in human genomes. This is called single nucleotide polymorphism or SNPs. Such observation promises to revolutionise the processes of finding chromosomal locations for disease associated sequences such as our susceptibility to a wide range of diseases (e.g. sickle-cell anemia, β-thalassemia and cystic fibrosis result from SNPs) It deemed significant to the scientists working on human genome project to realise the underlying social, ethical and legal issues associated with it hence the Ethical, Legal, and Social Implications (ELSI) program at NHGRI was established in 1990 to oversee research in these areas.

    Impact

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    Projects like these provide path breaking insights into the world of genomics, which are much needed to understand human history and the varied ailments human suffer from. Individualized analysis supported each person's genome will cause a really powerful sort of medicine . We'll be ready to study risks of future illness supported DNA analysis. The findings of human genome project i.e. the sequenced genome and related information is publicly available and can be accessed on the internet by anyone who is inquisitive enough.

    Mahak Jain
    Aug 19, 2020
    Student | Bibliophile | Philomath
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