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An Introduction to Genomics and Personalized Health Care

An Introduction to Genomics and Personalized Health Care. Bailee Ludwig Quality Management . Before we get started…. ….Let’s see what you know about Genomics. DNA. You may have heard that DNA is the blueprint for life…but what does that mean exactly? Essentially…

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An Introduction to Genomics and Personalized Health Care

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  1. An Introduction to Genomics and Personalized Health Care Bailee Ludwig Quality Management

  2. Before we get started…. ….Let’s see what you know about Genomics

  3. DNA • You may have heard that DNA is the blueprint for life…but what does that mean exactly? • Essentially… • DNA (Genes)  Protein  Cells  People That seems simple enough, right? Unfortunately it’s a little more complicated than that. Let’s start at the beginning…

  4. What exactly is DNA? • DNA =Deoxyribonucleic Acid • A helical molecule comprised of 2 polymer strands (each of which is comprised of a sequence of four nucleotides (bases) ) • The Four Base Pairs • 2 Purines • Adenine (A) • Guanine (G) • 2 Pyrimidines • Thymine (T) • Cytosine (C)

  5. Adenine (A) pairs with Thymine (T) Guanine (G) pairs with Cytosine (C)

  6. Hydrogen Bonds

  7. Sugar – Phosphate “Backbone” Nucleotide “Bases”

  8. DNA Sequencing • A DNA sequence can be either single-stranded or double-stranded • DNA sequences have an orientation: from 5’ to 3’ or from 3’ to 5’ (chemical conventions)

  9. What is RNA? • RNA = Ribonucleic Acid • A single-stranded molecule • It is comprised of four nucleotides • A, C, G, and U (Uracil) • Different types of RNAs • Messenger RNA (mRNA) • Transfer RNA (tRNA) • Ribosomal RNA (rRNA) Uracil

  10. Central Dogma of Molecular Biology • DNA RNA  Protein Translation Transcription DNA RNA Protein

  11. TranscriptionDNA  RNA • RNA is Produced by copying one of the two strands of a DNA molecule in the 5’ to 3’ direction in a process called DNA Transcription • In DNA Transcription… • RNA molecules synthesized by RNA polymerase enzyme • RNA polymerase binds to promoter region on DNA • Promoter region contains start site • Transcription ends at termination signal site

  12. Splicing & Alternative Splicing Pre mRNA  Mature mRNA • RNA splicing: introns removed to make the mRNA • Intron – the part of a gene that is NOT translated to a protein • Exon – the part of the nucleic acid that remains after introns are removed • mRNA: contains the sequence of codons that code for a protein • Alternative splicing – when the remaining exons reconnect to form different mRNAs • Also know as Post-transcriptional modification

  13. TranslationRNA - Protein • Ribosomes are made of protein and rRNA (ribosomal RNA) • mRNA goes through the ribosomes • Initiation factors: proteins that catayze the start of transcription • tRNA brings the different amino acids to the ribosome complex so that the amino acids can be attached to the growing amino acid chain • When a STOP codon is encountered, the ribosome releases the mRNA and synthesis ends • An open reading frames (ORF): a contiguous sequence of DNA starting at a start codon and ending at a STOP codon

  14. Check out this video for a great summary of Translation… http://www.youtube.com/watch?v=5bLEDd-PSTQ

  15. Genes Gene = A stretch of DNA containing the information necessary for coding a protein/polypeptide • Promoter region • Transcription Factor Binding Site • Translation Start Site • Exon: coding (informative) regions of the DNA • Intron: noninformative regions between exons • Untranslated region (UTR) • Codons

  16. ProteinDNA  RNA  Protein Protein - A molecule comprising a long chain of amino acids connected by peptide bonds • There are 20 standard amino acids encoded by the universal genetic code

  17. Cell Types • Prokaryotes: a group of organisms that lack of nucleus membrane, such as blue-green algae and common bacteria (Escherichia coli) • It has two major taxa: Archaea and Bacteria • Eukaryotes: unicellular and multicellular organisms • Ex. yeast, fruit-fly, mouse, plants, and human

  18. Eukaryotes • In eukaryotes, transcription is complex: • Many genes contain alternating exons and introns • Introns are spliced out of mRNA • mRNA then leaves the nucleus to be translated by ribosomes • Genomic DNA: entire gene including exons and introns • The same genomic DNA can produce different proteins by alternative splicing of exons • Complementary DNA (cDNA): spliced sequence containing only exons • cDNA can be manufactured by capturing mRNA and performing reverse transcription

  19. Eukaryotic Gene Structure

  20. Chromosomes • A chromosome is a long and tightly wound DNA string (visible under a microscope) • Chromosomes can be linear or circular • Prokaryotes usually have a single chromosome, often a circular DNA molecule

  21. Chromosomes (2) • Eukaryotic chromosome appear in pairs (diploid), each inherited from one parent • Homologous chromosomes carry the same genes • Some genes are the same in both parents • Some genes appear in different forms called alleles, e.g., human blood type has three alleles: A, B, and O • All genes are presented in all cells, but a give cell types only expressed a small portion of the genes

  22. Genomes • The genome is formed by one or more chromosomes • A genome is the entire set of all DNA contained in a cell • A human genome has 46 chromosomes • The total length of a human genome is 3 billion bases

  23. Genome Sequences

  24. Genome Sequence Sizes DNA Sequence size is measured as base pairs (bp)

  25. The Whole Picture

  26. Let’s summarize what we’ve covered today with a Video….

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  28. I’m sure right now you’re thinking… This review of Bio 1 has been wonderful, but how does it apply to HIM??

  29. Did you know..? • In a few short years, mapping a persons genome will be a routine hospital test • A Genome can reveal not only an individuals health information, but also the health information of their family • A Genome in the ‘wrong hands’ can lead to Genetic Discrimination • Genetic Discrimination can prevent people from obtaining health insurance and jobs

  30. As HIM Professionals… • You will be responsible for storing this highly sensitive information in a Secure, Private, and Confidential Manner • You will be implementing new storage options…most Electronic Health Records are not prepared to store a genome

  31. Next Lecture… • We will talk more in depth about • Genomic Security • Genomic Ethics • Genetic Law • Risk Perception and Health Behavior • Genomic Responsibility

  32. Thank-you! Please email me with questions bwl6@pitt.edu

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