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Human genome project ()

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HGP was conceived in 1984 & officially begun in earnest in October 1990.
HGP is a large multicentric, international collaborative venture, the main aim of which is to determine the nucleotide sequence of the entire human nuclear genome.
In 1997, United States established the National Human Genome Research Institute (NHGRI).
The HGP was an international research groups from six countries- USA, UK, France, Germany, Japan and China, & several laboratories and a large no. of scientists and technicians from various disciplines.

  • HGP was conceived in 1984 & officially begun in earnest in October 1990. HGP is a large multicentric, international collaborative venture, the main aim of which is to determine the nucleotide sequence of the entire human nuclear genome. In 1997, United States established the National Human Genome Research Institute (NHGRI). The HGP was an international research groups from six countries- USA, UK, France, Germany, Japan and China, & several laboratories and a large no. of scientists and technicians from various disciplines.
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Human genome project ()

  1. 1. Human Genome Project (HGP) Human Genome Project (HGP) Tapeshwar Yadav (Lecturer) BMLT, DNHE, M.Sc. Medical Biochemistry
  2. 2. Human Genome Project (HGP)  HGP was conceived in 1984 & officially begun in earnest in October 1990.  HGP is a large multicentric, international collaborative venture, the main aim of which is to determine the nucleotide sequence of the entire human nuclear genome.  In 1997, United States established the National Human Genome Research Institute (NHGRI). The HGP was an international research groups from six countries- USA, UK, France, Germany, Japan and China, & several laboratories and a large no. of scientists and technicians from various disciplines.
  3. 3.  This collaborative venture was named as International Human Genome Sequencing Consortium (IHGSC). The main objectives set out early in history of the project include: 1. To obtain complete sequence of pooled DNA extracted from cells donated by several anonymous donors, so as to determine the sequence of DNA in each chromosome. 2. To construct genetic map for facilitating genetic linkage studies. 3. To discover all human genes to allow further study of human genetic diseases. 4. To develop simplified and automated technology for DNA sequencing process.
  4. 4.  The HGP results attracted worldwide attention. This achievement was hailed with many description in the media.  The mystery of life unravelled.  The library of life.  The periodic table of life.  The Holy grail of human genetics.  The total no. of genes in the human genome is in the range of 33,000 to 44,000.  Approximately 75% of these genes have the same DNA sequence in all individuals, except for those with rare mutations.
  5. 5.  Any two human genomes are approximately 99.9% identical in sequence. The apparently insignificant difference of 0.1% has a highly significant effect on personality, behaviour, intelligence, disease susceptibility and other traits.
  6. 6. Goals for the HGP 1. Establish the complete human genome sequence and to make it freely accessible 2. Improve the sequencing technology by developing new and more effective methods 3. Analyze sequence variations in the human genome, such as single nucleotide polymorphisms (SNPs) and other DNA sequence variations
  7. 7. 4. Develop technology for functional genomics. It includes: development of additional cDNA resources and technology for detailed analysis of gene expression; comprehensive study of functions of non-protein coding sequences; and encourage development of technology for global protein analysis. 5. Study comparative genomics by completing the genome sequence of some model organism (e.g. Mouse etc) which would enhance our understanding of the human genome
  8. 8. 6. Consider ethical, legal and social implications of the vastly expanding knowledge base. It is anticipated that clash of this new and advanced knowledge with the pre-existing ethical and philosophical perspectives may result in undesirable consequences, which have to be taken care of. 7. Develop bioinformatics and computational biology, to impart advanced training to young scientists and encourage establishment of academic careers in genomic research.
  9. 9. Medical Implications  The medical implications of the huge amount of genetic information obtained from the HGP are tremendous  It would serve as resource for identification of the human disease gene.  For example the oncogenic sequence changes in cancer cells can be directly identified by comparing cancer genome sequences against draft genome.
  10. 10. Contd… Advancement in biotechnology with regard to development of useful genes would expand the scope of gene therapy and open new ways of combating disease. It may even initiate new fields such as pharmacogenomics which would individualized therapies depending on genetic make up of the patient
  11. 11. Applications of HGP 1. Identification of human genes and their functions. 2. Understanding of polygenic disorders e.g. cancer, hypertension, diabetes. 3. Improvements in gene therapy 4. Improved diagnosis of diseases 5. Development of pharmacogenesis.
  12. 12. 6. Genetic basis of psychiatric disorders. 7. Understanding of complex social trait. 8. Improved knowledge on mutations. 9. Better understanding of developmental biology. 10. Development of biotechnology.
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