FAMILY GENOMICS

LINKS DNA TO DISEASE

Megan Outten

THE HUMAN GENOMEWhat is the genome?

1. A full set of chromosomes2. The full complement of genetic

material within an organism1

The genome is divided into chromosomes, chromosomes contain genes, and genes are made of DNA2

DNA then breaks down into the four nitrogenous bases: Adenine, Guanine, Thymine, Cytosine

Genome = genetic blueprint

GENOME SEQUENCING

Sequencing the genome, then, is simply determining the order of nitrogenous bases that make up the DNA that comprises genes3

Genes specify traits:hair coloreye color…disease?

THE ARTICLEUntil recently, the cost to sequence one

person’s entire genome was in the billions4

That number having decreased, scientists have been able to study DNA variations within an entire family

Reduction in cost has allowed researchers to explore the entire genome

LEROY HOOD’S HUMAN GENOME PROJECT CSHL 2010

http://www.youtube.com/watch?v=PnpEqHDczNk

THE IMPLICATIONSGenome sequencing can uncover

mutations responsible for diseases caused by defects in a single gene

“There are literally hundreds, if not thousands, of diseases falling into this category”4

Charcot-Marie-Tooth neuropathy5

-loss of sensation/reflexes in limbs-muscle atrophy

Miller syndrome6,7

-underdeveloped cheekbones-abnormally small jaw-cleft palate

THE FUTURE Identification and Treatment

In uteroPreventive drugs

Other DiseasesDepends on genetic variations

REFERENCES1. “Genome”. Dictionary.com, LLC. (2011). Accessed 24 April 2011. Retrieved

from <www.dictionary.com/genome>2. “What’s a Genome?”. Genome News Network. J Craig Venter Institute.

(2003). Accessed 24 April 2011. Retrieved from <http://www.genomenewsnetwork.org/resources/whats_a_genome/Chp1_1_1.shtml#genome1>

3. “Facts About Genome Sequencing”. BERIS. Human Genome Project Information. (2008). Accessed 24 April 2011. Retrieved from <http://www.ornl.gov/sci/techresources/Human_Genome/faq/seqfacts.shtml>

4. McAuliffe, Kathleen. “Family Genomics Links DNA to Disease”. Discover Magazine. (2010).

5. “Charco-Marie-Tooth disease”. A.D.A.M. (2009). Accessed 24 April 2011. Retrieved from <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001741/>

6. “Miller Syndrome”. National Craniofacial Association. (2011). Accessed 24 April 2011. Retrieved from <http://www.faces-cranio.org/Disord/Miller.htm>

7. Roach, Glusman, Smit, Huff, Hubley, Shannon, Rowan, Pant, Goodman, Bamshad, Shendure, Drmanac, Jorde, Good, Galas. “Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing”. Science Magazine. (2010). Accessed 24 April 2011. Retrieved from <http://www.sciencemag.org/content/328/5978/636.short>

IMAGESSlide 3:

<http://www.genomenewsnetwork.org/resources/whats_a_genome/Chp2_1.shtml>Slide 4:

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