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 Our flagship products
In both the medical profession and the consumer healthcare industries, we have strong portfolios of products, many of which are household names.
Prescription medicines: SERETIDE/ADVAIR (respiratory), and the AVANDIA family of products (diabetes).
OTC Medicines – PANADOL, TUMS, ABREVA, BREATHE RIGHT and FIBER CHOICE
Oral Healthcare – AQUAFRESH, SENSODYNE and MACLEANS
Nutritional Healthcare – RIBENA, LUCOZADE and HORLICKS
GSK 4 products in the world’s top 60 pharmaceutical products BY SALES. These are: Avandia, Lamictal, Seretide/Advair and Valtrex.
And we’re working towards the introduction of new medicines and vaccines.
Next Slide: Our product pipeline
The World of GSK 3

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. Measuring Genetic Variation
GCTATCAGTACT
DNA
Gene X G
Single Nucleotide Polymorphism (SNP)
Exons
Introns
Rheumatoid
Arthritis
Baldness
Height
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 studies Liver injury due to flucloxacillin

14. Genome-wide association studies Body 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:
 Online Mendelian Inheritance in Man (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

18. Partial results from the body mass index search

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

20. Find out more about the FTO gene

21. More about the FTO gene

22. Your turn

24. 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

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