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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