GENETIC CONDITIONS REDEFINED

Perspectives on DNA research

Presenter: Christina Scales

Father of Modern Genetics• Gregor Mendel (1822-1884)

• Documented inheritable traits (“factors”) in peas

• Used probability to predict outcome– (Punnett Square)– Application to genetic conditions

• Tay – Sachs, Huntington Disease

Solomon EP, Berg LR, Martin, DW. 2008. Biology. 8th edition. Belmont: Brooks/Cole. p 234-237.

But…what is it?

• 1880’s – Walther Fleming (German) observed chromosomes

• 1903 – Two scientists independently noted that chromosomes carry “factors”

•American Walter Sutton•German Theodor Boveri

• 1950’s – Karyotype technique developed

Solomon EP, Berg LR, Martin, DW. 2008. Biology. 8th edition. Belmont: Brooks/Cole. p 212, 236.

US National Library of Medicine. 2011. Genetics home reference: Your guide to understanding genetic conditions. <http://ghr.nlm.nih.gov/handbook/illustrations/normalkaryotype >Accessed 2011 Nov 3.

Discovery of DNA•James Watson and Francis Crick

•1953 – proposed accepted model

•Integrate all available information on DNA

•Work of multiple scientists

•Molecular template for two processes

Solomon EP, Berg LR, Martin, DW. 2008. Biology. 8th edition. Belmont: Brooks/Cole. p 263.

Difference Between. 2011. Differences between DNA replication and transcription. <http://www.differencebetween.net/science/health/differences-between-dna-replication-and-transcription/> Accessed 2011 Nov 3.

Nucleotide

• One base• One sugar• One phosphate

National Human Genome Research Institute

Then: Common Variant Hypothesis

• Diabetes• Obesity• Heart disease• Cancer

– Leukemia– Thyroid cancer– Prostate cancer– Lung cancer– Breast cancer

• Malaria ResistanceRhine S. Genetics update conferences 2010-11. Sam Rhine Genetic Update Conferences; 2010 Sept. 20; Syracuse (NY): n.d., 17 p.

Human Genome Project

• Mapped entire human genome• Data collected from multiple countries• Completed April 25, 2003• New perspectives on genetic

disorders

Rhine S. Genetics update conferences 2010-11. Sam Rhine Genetic Update Conferences; 2010 Sept. 20; Syracuse (NY): n.d., 17 p.

Human Chromosomes from "Human Genome Landmarks: Selected Genes, Traits, and Disorders" Poster, 2002. (Gene Gateway)

Now: Common SNP Hypothesis

• Single Nucleotide Polymorphism (SNP) - formerly mutation

• NEW mutation definition – rare nucleotide change associated with pathology or disease

• Genome Wide Association Studies (GWAS) – Groups of SNPs linked to specific

diseases/conditions– Number of SNPs determine threshold (risk)

• International HapMap Project– Currently studying world-wide SNP groups

Rhine S. Genetics update conferences 2010-11. Sam Rhine Genetic Update Conferences; 2010 Sept. 20; Syracuse (NY): n.d., 17 p.

International HapMap Project [Internet]. 2007 Dec 4. (Unknown):International HapMap Project; [2011 Jun 13, cited 2011 Nov 3] . Available from: http://hapmap.ncbi.nlm.nih.gov/index.html.en

How does it work?

• Microarry/DNA/SNP Chip

• Approximately 1 million known SNP sequences

• Binds with unknown DNA fragment to form fluorescent double helix

• Computer scans markers, calculates risk UCR Chemist Named European Inventor of the Year. [news]

University of California, Riverside Newsroom [serial on the Internet]. 2006 May 31 [cited 2011 Nov. 3]; Available from:http://newsroom.ucr.edu/1351

Rhine S. Genetics update conferences 2010-11. Sam Rhine Genetic Update Conferences; 2010 Sept. 20; Syracuse (NY): n.d., 17 p.

What does it cost?

Monetary Costs• 2010 - $80,000

– Partial Genome $1,000

• 2014 - $1,000

• 2020 - $100

Other Costs• Genetic Information

Nondiscrimation Act (2008)– Guards against unfair

treatment from employers and health care companies

– Federal Law– Refers only to health risks

• Unintended consequences

National Human Genome Research Institute . 2010 Sept 28. Genetic Information Nondiscrimination Act of 2008 [Internet]. Bethesda(MD):National Institute of Health; [2010 Sept 28, cited 2011 Nov 4] . Available from: http://www.genome.gov/10002328

Rhine S. Genetics update conferences 2010-11. Sam Rhine Genetic Update Conferences; 2010 Sept. 20; Syracuse (NY): n.d., 17 p.

What risks can be assessed by SNPs?

• Adult Onset Diabetes• Juvenile Diabetes• Crohn’s Disease• Ulcerative Colitis• Body Mass Index

(BMI)• Obesity• Height/Weight• Neuroticism

• Osteoarthritis• Chemical

Dependency• Migraines• Aneurisms• Criminal Behavior• Extraversion• Conscientiousness• Music Ability

Rhine S. Genetics update conferences 2010-11. Sam Rhine Genetic Update Conferences; 2010 Sept. 20; Syracuse (NY): n.d., 17 p.

The Changing Face of Genetic Conditions:

Chris Burke (actor) [Internet]. Wikipedia; [2011 Oct 30, cited 2011 Nov 4] . Available from: http://en.wikipedia.org/wiki/Chris_Burke_(actor)

GENETIC CONDITIONS REDEFINED

Presenter: Christina Scales