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A Little Variation Makes All the Difference in Human Genetics

By November 30, 2012

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Genes make us who we are and the small variations between each person's genes do more than just make us look different. They influence our unique physiology, personality, intelligence, and health. They can also tell us where our ancestors originated.

The sequencing of the human genome--the genetic material contained in each person--was completed in 2003. However, this just provided a reference DNA sequence. While the DNA in different humans is more than 99% identical, each individual's genome is a little different. It is this small variation that makes each of us unique.

The less than 1% differences between the genomes of two individuals amounts to millions of variations in the 3 billion bases of DNA in each of their cells. Since the completion of the first human genome, researchers have been devoting massive efforts to work out the effect of these variations in different people's genomes. Of course they define our physical differences, but they also influence our susceptibility to diseases, determine our sensitivity to various chemicals and drugs, affect our metabolism, and influence our behavior and neurology.

Almost 10 years after the completion of the human genome sequence, science is starting to understand enough about how specific DNA variations produce different traits and predispose individuals to various health and lifestyle risks to impact individual healthcare.

Just a couple weeks ago, over 6,000 scientists met at the American Society of Human Genetics (ASHG) in San Francisco to discuss the latest research linking human DNA variations to diseases and other human characteristics. Sessions at the conference discussed the genetics of cancer, cardiovascular disease, metabolic disorders, neurodegenerative diseases, and pharmacogenetics--which deals with how people with different genetics can respond differently a drug. To get a sense of the conference, here are a couple blogs from attendees. Brigitte Ganter from DNANexus gives a general overview of the conference, and Razib Khan on the Discover website offers a more on-the-ground view of happenings at this event. A blog by Meg Byrne from the journal PLOS also highlights some interesting published genomic research (although not necessarily presented at the ASHG conference)

I was fortunate enough to stop in at the ASHG conference for a day to poke around. I just posted a couple articles that offer a bit of an introduction to genomics science. One talks about, Genetic Variation, Disease Genes, and Risk Factors, and the other, How Researchers Figure Out Which Genes Are Associated with Diseases. Hope you find them interesting. I will also add a couple other related pieces in coming weeks.

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February 14, 2014 at 6:53 pm
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