Lecture 08

• What is the focus of the study material?

  Diagnosis and treatment of genetic disorders
• What is the role of genomics in personalized medicine?

  It aids in diagnosis and treatment
• What are polymorphisms in genomics?

  Variations in DNA sequences among individuals
• How do pharmacogenetics and pharmacogenomics differ?

  Pharmacogenetics studies individual responses, pharmacogenomics studies groups
• What constitutes a genome?

  Entire genetic material of an organism
• How many chromosome pairs do humans have?

  23 chromosome pairs
• How many genes are present in the human genome?

  23,000 genes
• What is the total number of nucleotide pairs in the human genome?

  3.3 billion nucleotide pairs
• What percentage of genetic similarity do humans share?

  99.9% genetic similarity
• What percentage of genetic variation accounts for individual uniqueness?

  0.01% creates variation
• What typically happens to most changes during cell division?

  Most changes are benign
• How do genes in a metabolic pathway affect drug responses?

  Different genes lead to different drug responses
• What does stable gene expression mean?

  It does not change over a lifetime
• What can cause changes in gene expression?

  Disease and drugs can change expression
• What is the purpose of gene expression markers?

  They provide markers for diagnosis and treatment
• What is a higher survival rate associated with?

  Group A has a higher survival rate
• What does the standard biochemical pathway involve?

  Transcription and translation vary
• What is gene expression profiling?

  It compares RNA differences using microarrays
• What technology is used in gene expression profiling?

  Microarray technology
• What does a microarray detect?

  Expression of thousands of genes simultaneously
• What is the purpose of a biomarker toolbox?

  To shift to personalised care
• What is a biosignature?

  Difference in DNA sequences affecting drug response
• What is a polymorphism?

  A DNA sequence variation among individuals
• What is a single nucleotide polymorphism (SNP)?

  A variation in a single nucleotide

  
• What is a copy number variant (CNV)?

  A variation in the number of DNA repeats

  
• What is an indel?

  A variation of insertion or deletion in DNA
• What are SNPs used for?

  To predict drug side effects and doses
• How many SNPs are estimated in the human genome?

  10 million SNPs
• What is a haplotype?

  Combination of alleles inherited together
• How are SNP profiles applied to drug choices?

  They bind to receptors coded by genes
• What are conventional strategies for screening genetic factors?

  PCR and microarrays are used
• What is the purpose of Genome Wide Association Studies (GWAS)?

  To identify genetic variations linked to diseases
• What can GWAS predict?

  Risk and drug responses in individuals
• What are the key components of personalized medicine?

  Right drug, dose, indication, treatment
• How does pharmacogenomics affect drug metabolism?

  Personal genome variation affects metabolism
• Why do individuals respond differently to drugs?

  Due to metabolism differences in drugs
• What is the difference between pharmacogenomics and pharmacogenetics?

  Pharmacogenomics analyses entire genomes
• What is Abacavir used for?

  Treating HIV infection
• What is the FDA warning associated with Plavix?

  15% are non-metabolisers
• What is the significance of Warfarin in drug safety?

  High rates of major bleeding cases