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Exploring Human Genetics: Insights into Drug Response and Genetic Variability

Join Dr. Matthew R. Nelson from Chapel Hill High School as he delves into the fascinating world of human genetics and its implications for personalized medicine. Discover how genetics influence our responses to drugs, the safety and efficacy of treatments, and the significance of genetic variation. Learn about groundbreaking concepts like Genome-Wide Association Studies (GWAS) and what we've learned about traits like height and predisposition to conditions such as rheumatoid arthritis. Gain access to resources that help you explore genetic factors influencing human health.

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Exploring Human Genetics: Insights into Drug Response and Genetic Variability

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  1. Mendel on Caffeine: Human Genetics in 2012 Matthew R. Nelson, Ph.D. Chapel Hill High School March 9, 2012

  2. A few things about me

  3. What GSK does

  4. What I do • How does genetics influence the way we respond to drugs? • Does it work for me? • How much do I need? • Is it safe for me to take?

  5. Gregor Mendel: One mutation at a time

  6. Two!!

  7. DNA and genetics

  8. Revolutionizing genetic research ×20 cycles = ? = 220 > 1 Million

  9. Gene X DNA GCTATCAGTACT Introns Exons Single Nucleotide Polymorphism (SNP) G Measuring Genetic Variation Rheumatoid Arthritis Height Baldness Asthma

  10. Genetics tells us about our origins

  11. Genetics tells about our origins

  12. Taking genetics to the next level

  13. Genome-wide association studiesLiver injury due to flucloxacillin

  14. Genome-wide association studiesBody mass index (analyzed 250,000 people)

  15. Some things we have learned • Almost all traits have some genetic influence • Most traits are affected by lots of genes • Usually more than ten, sometimes hundreds • Some genes affect lots of different traits • Even when we find lots of genes involved, they usually aren’t very good for predicting what will happen to you • You are not your genes • Genes can influence and sometimes set bounds, but rarely determine your fate

  16. Where can you find information about genetic effects on human diseases and conditions? • What genes have been found that influence diseases or other traits you want to know more about? • What are the different traits that a gene affects? • Genome-wide Association Study Catalog: • http://www.genome.gov/gwastudies •  Online Mendelian Inheritance in Man (OMIM): • http://www.ncbi.nlm.nih.gov/omim • Pubmed.org & Google Scholar: Finding scientific papers and reviews (not all are freely available) • Google: Good place to find summaries, but be careful • Wikipedia: Hit or miss

  17. Partial results from the body mass index search

  18. What else has the FTO gene been associated with?

  19. Find out more about the FTO gene

  20. More about the FTO gene

  21. Your turn

  22. 23 chromosome pairs 6 billion bases ~33,000 annotated “genes” ~10,000,000 common (>5%) single nucleotide polymorphisms (SNPs) >>10,000,000 rare SNPs 1000s common insertions/ deletions (indels) 100,000s rare indels Overview of Genomic Organizationand Variation Figure from http://www.biologia.uniba.it/rmc/0-internal-images/z-ideograms/ideograms.html

  23. Published GWA Reports, 2005 – 6/2011 951 Total Number of Publications Calendar Quarter Through 9/30/10 postings

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