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Human genomics

Human genomics

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Human genomics

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  1. Human genomics Sequencing DNA

  2. What you should know • Sequencing DNA. • Bioinformatics is the use of computer technology to identify DNA sequences. • Systematics compares human genome sequence data and genomes of other species to provide information on evolutionary relationships and origins. • Personalised medicine is based on an individual’s genome. Analysis of an individual’s genome may lead to personalised medicine through understanding the genetic component of risk of disease.

  3. What is the Human Genome? Definition:Genome – the whole hereditary information of an organism that is encoded in the DNA.

  4. Human Genomics • Human genomics is the study of the human genome • It involves determining the sequence of the nucleotide base molecules along the DNA • The sequence of bases can be determined for individual genes and entire genomes • Entire genomes can be compared using single nucleotide polymorphisms (SNPs)

  5. What was the Human Genome Project? • Main aims of the project: • To identify the approximate 100,000 genes in the human DNA. • Determine the sequences of the 3 billion bases that make up human DNA. • 14 Apr 2003 – The finished human genome

  6. Bioinformatics • Is the use of computer technology to identify DNA sequences • The enormous amount of data produced by DNA and protein sequencing can be managed and analysed using computer technology and shared over the internet

  7. Computer programs can be used to identify • Gene sequences by looking for coding sequences similar to know genes • Start sequences (there is a good chance that each of these will be followed by a coding sequence • Sequences lacking stop codons (a protein coding sequence is normally a very long chain of base triplets containing no stop codon except the one at its end

  8. Computer programs can be used to search and identify base sequences to see if it matches a specific amino acid sequence already known to be typical of a certain protein • This is useful in the world of medicine

  9. Systematics • Is the study of a group of living things with respect to their diversity, relatedness and classification • It compares human genome sequence data and genomes of other species to provide information on evolutionary relationships and origins

  10. Personalised Medicine • Personalized medicine is the ability to determine an individual's unique molecular characteristics and to use those genetic distinctions to diagnose more finely an individual's disease, select treatments that increase the chances of a successful outcome and reduce possible adverse reactions. • Personalized medicine also makes it possible to predict an individual's susceptibility to diseases and enables steps to be taken that may help avoid or reduce the extent to which an individual will experience a disease.

  11. Personalised Medicine-The future

  12. The nature of disease is very complex and depends on both genetic and environmental factors for expression

  13. Pharmacogenetics • Pharmacogenetics is the study of how people's genetic makeup affects their responses to drugs. • If a drug is known to produce side effects in some people, pharmacogenetic testing may help identify at-risk patients.

  14. Rational drug design • Drugs work by interacting with target molecules (receptors) in our bodies and altering their activities in a way that is beneficial to our health. In some cases, the effect of a drug is to stimulate the activity of its target (an agonist) while in other cases the drug blocks the activity of its target (an antagonist).

  15. Once DNA sequencing has identified the the genes involved in a specific disease and established the structure of the protein expressed the Pharmacogenetisists try to synthesise a specific drug

  16. The drug produced will • bind to proteins involved or • prevent their synthesis by binding to a specific region of the DNA preventing transcription of abnormal mRNA or • by binding to the abnormal mRNA preventing translation eg interfering RNA (RNAi)

  17. Do you know ? • Sequencing DNA. • Bioinformatics is the use of computer technology to identify DNA sequences. • Systematics compares human genome sequence data and genomes of other species to provide information on evolutionary relationships and origins. • Personalised medicine is based on an individual’s genome. Analysis of an individual’s genome may lead to personalised medicine through understanding the genetic component of risk of disease.