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The Human Genome Project (E). Prepared By: Safa Sultana GCZ:028.

What was the Human Genome Project ?. The Human Genome Project was a large, well-organized, and highly collaborative international effort that generated the first sequence of the human genome and that of several additional well-studied organisms, it was one of the most ambitious and important scientific endeavors in human history ..

Introduction. The Human Genome Project was an international scientific research project that aimed to determine the complete sequence of nucleotide base pairs that make up human DNA and all the genes it contains. It remains the worlds large collaborative biological project. The idea was picked up in 1984 by the US govt when the planning started ,the project was finally launched in 1990 and was declared complete in 2003..

The Human Genome Project originally aimed to map the nucleotides contained in a human haploid reference genome. The “genome” of any given individual is unique ,mapping the “Human Genome” involved sequencing the genomes of small number of individuals and then assembling these together to get a complete sequence of each chromosome. The finished Human Genome is thus a mosaic ,not representing any one individual..

Goals…. To identify and map all the 20000-25000 approx genes in human DNA Determine the sequences of the 3 billion DNA chemical bases within 15 years. To develop Genetic linkage map of Human Genome To obtain physical map of Human genome To understand the function of genes To store these information in databases Improve tools for Data Analysis. Also to sequence the genome of other organism that are important in medical research such as Drosophila, mouse etc To address Ethical,Legal and Social issues..

Who took part in the project?. The sequencing of the human genome involved researchers from 20 separate universities and research centers across the United States, United Kingdom, France, Germany, Japan and China. The groups in these countries became known as the International Human Genome Sequencing Consortium. Wellcome Trust Sanger Institute Washington University School of Medicine Whitehead Institute/MIT centre for Genome research The DOE’s Joint Genome Institute Baylor College of Medicine.

Pioneers of Human Genome Project. Robert Sinsheimer proposed the idea of sequencing the human genome in the year 1985 Charles DeLisi and David Smith proposed the budget for Human Genome Project James Watson headed the NIH Genome program. Francis Collins succeeded James Watson in 1993 as the overall Project head and Director of the NIH. Jim Kent developed a software GigAssembler , that allowed the publicly funded the Human Genome Project to assemble and publish the Human genome sequence ..

Human genome project. Human genome project. Human genome project.

About Human Genome Project. The project used one particular method for DNA sequencing, called Sanger DNA sequencing, but first greatly advanced this basic method through a series of major technical innovations. The sequence of the human genome generated by the Human Genome Project was not from a single person. Rather, it reflects a patchwork from multiple people whose identities were intentionally made anonymous to protect their privacy. The project researchers used a thoughtful process to recruit volunteers, acquire their informed consent, and collect their blood samples. Most of the human genome sequence generated by the Human Genome Project came from blood donors in Buffalo, New York; specifically, 93% from 11 donors, and 70% from one donor..

Did the Human Genome Project produce a perfectly complete genome sequence ?.

How was the human genome sequenced?. Sequencing technology: only a few hundred base pairs of DNA at a time. It had to be broken up into small pieces for sequencing → giant jigsaw puzzle. First 200,000 base pair sections ( clones ) Inserted into bacterial DNA , living libraries of the DNA clones. Shipped between collaborating institutes. Clones then broken into smaller pieces (4000-6000 base pairs). Re-inserted into bacteria Cultured to make enough DNA for sequencing. Bacterial colonies transferred to tubes → lysed → DNA extracted. Sanger sequencing method. Resulting data pieced together to form the whole genome sequence..

Features of the Human genome project include:. Our entire genome is made up of 3164.7 million base pairs. On average, a gene is made up of 3000 nucleotides. The function of more than 50 percent of the genes is yet to be discovered. Proteins are coded by less than 2 percent of the genome. Most of the genome is made up of repetitive sequences which have no coding purposes specifically but such redundant codes can help us better understand of genetic development of humanity through the ages..

Applications…. Diagnosis of disease: The prime goal to conduct human genome sequencing is to know the location of disease-causing genes. By knowing the structure, function, or location of genes related to the disease can be understood more. Thereby inherited, non-inherited, chromosomal as well as gene-disease can be diagnosed. If other disease-related genes are isolated, scientists can begin to understand the structure and pathology of disorders like heart disease, cancer, diabetes. This would lead to better medical management of these disorders and pharmaceutical discovery..

Curing genetic disorders: Gene therapies, gene transfer techniques and genetic engineering tools make it possible to cure genetic disorders by removing, altering or replacing the faulting gene or portion of a gene. Gene therapies, though are still under preclinical phases, are the futuristic novel approach to treat genetic disorders. In vivo, in vitro , germ-line and somatic cell gene therapies are popular types of it..

Genetic or molecular medicines: Again the futuristic and novel approach to design medicine specific to a particular gene or to influence the function of only a gene or genetic disorder we wish to treat sounds like a fairy tale. Genetic screening will enable rapid and specific diagnostic tests making it possible to test countless maladies. Genetic medicines will enable healthcare workers to treat a disease with a specific treatment..

Waste Control and Environmental Cleanup: In 1994, through advances gained by the HGP, the DOE formulated the Microbial Genome Initiative to sequence the genomes of bacteria useful in the areas of energy production, environmental remediation, toxic waste reduction, and industrial processing. Resulting from that project, six microbes that live under extreme temperature and pressure conditions have been sequenced..

Biotechnology: The potential for commercial development presents U.S. industry with a wealth of opportunities. Sales of biotechnology products are projected to exceed $20 billion by the year 2000. Biotechnology will help address these needs by providing a cleaner means for the bioconversion of raw materials to refined products..

Risk Assessment: Understanding the human genome will have an enormous impact on the ability to assess risks posed to individuals by environmental exposure to toxic agents. More work must be done to determine the genetic basis of such variability, but this knowledge will directly address the DOE's long-term mission to understand the effects of low-level exposures to radiation and other energy-related agents, especially in terms of cancer risk ..

Conclusion. The Human genome project was one of the most challenging tasks, though, an important part of world history. Because, We had sequenced the whole genome, every single nucleotide of a genome. Within a span of only 13 years, an amalgam of public and private researchers was able to successfully complete the Human Genome Project. Although these scientists used a number of different methods in their work, they nonetheless obtained the same results. In doing so, the researchers not only silenced their critics, but they also beat their own estimated project timeline by two entire years. Perhaps even more importantly, these scientists inspired an ongoing revolution in our fight against human disease and provided a new vision of the future of medicine-although that future has yet to be fully realized..

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