GENETIC CONDITIONS REDEFINED Perspectives on DNA research Presenter: Christina Scales

Father of Modern Genetics Gregor Mendel ( ) 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 Biology. 8 th edition. Belmont: Brooks/Cole. p

But…what is it? 1880’s – Walther Fleming (German) observed chromosomes1880’s – Walther Fleming (German) observed chromosomes 1903 – Two scientists independently noted that chromosomes carry “factors”1903 – Two scientists independently noted that chromosomes carry “factors” American Walter SuttonAmerican Walter Sutton German Theodor BoveriGerman Theodor Boveri 1950’s – Karyotype technique1950’s – Karyotype technique developed developed Solomon EP, Berg LR, Martin, DW Biology. 8 th edition. Belmont: Brooks/Cole. p 212, 236. US National Library of Medicine Genetics home reference: Your guide to understanding genetic conditions. 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 Biology. 8 th edition. Belmont: Brooks/Cole. p 263. Difference Between 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 Resistance Rhine S. Genetics update conferences 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 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, (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 Sam Rhine Genetic Update Conferences; 2010 Sept. 20; Syracuse (NY): n.d., 17 p. International HapMap Project [Internet] Dec 4. (Unknown):International HapMap Project; [2011 Jun 13, cited 2011 Nov 3]. Available from:

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] May 31 [cited 2011 Nov. 3]; Available from: http Rhine S. Genetics update conferences Sam Rhine Genetic Update Conferences; 2010 Sept. 20; Syracuse (NY): n.d., 17 p.

What does it cost? Monetary Costs $80,000 –Partial Genome $1, $1, $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 Sept 28. Genetic Information Nondiscrimination Act of 2008 [Internet]. Bethesda(MD):National Institute of Health; [2010 Sept 28, cited 2011 Nov 4]. Available from: Rhine S. Genetics update conferences 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 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:

GENETIC CONDITIONS REDEFINED Presenter: Christina Scales