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Mendel on Caffeine: Human Genetics in 2012 Matthew R. Nelson, Ph.D. Chapel Hill High School March 9, 2012 A few things about me What GSK does 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? Gregor Mendel: One mutation at a time Two!! DNA and genetics Revolutionizing genetic research ×20 cycles = ? = 220 > 1 Million Measuring Genetic Variation DNA Gene X GCTATCAGTACT G Introns Exons Single Nucleotide Polymorphism (SNP) Baldness Height Rheumatoid Arthritis Asthma Genetics tells us about our origins Genetics tells about our origins Taking genetics to the next level Genome-wide association studies Liver injury due to flucloxacillin Genome-wide association studies Body mass index (analyzed 250,000 people) 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 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 Partial results from the body mass index search What else has the FTO gene been associated with? Find out more about the FTO gene More about the FTO gene Your turn Overview of Genomic Organization and Variation 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 Figure from http://www.biologia.uniba.it/rmc/0-internal-images/z-ideograms/ideograms.html Published GWA Reports, 2005 – 6/2011 1000 951 Total Number of Publications 900 800 700 600 500 400 300 200 100 0 2005 2006 2007 2008 2009 Calendar Quarter Through 9/30/10 postings 2010 2011