LSU researcher participates in NIH-funded study ushering in the age of personal genomics

(Press-News.org) BATON ROUGE – Genetic diseases impact millions around the world each and every day. Complex medical conditions with genetic predispositions, such as hypertension, can also weigh heavily on our lives. Susceptibility to hypertension has many genetic components and often goes undiagnosed until a person has signs of advanced disease.

Many imagine a day when science will give us the tools to discover how to work with these genetic issues and discover ways to not only diagnose, but to use them to our advantage as individuals. LSU Boyd Professor Mark Batzer and an international consortium of hundreds of the world's best and brightest experts have come together to tackle the 1,000 Genomes Project, which aims to provide a deep understanding of human genome sequence variation. It will be a foundation for investigating the relationship between genotypes – coded, internal information stored in our genes – and phenotypes, the outward expressions of those genes. Moreover, the 1,000 Genomes Project will contribute to our understanding of the impact of non-coding sequences and identify areas of high variation with the human population. The pilot study, "A map of human genome variation from population-scale sequencing," is complete with detailed analyses of the first 185 genomes sequenced and will be published on Oct. 28 in the prestigious scientific journal Nature.

"This is the biggest study of human variation and diversity ever attempted," Batzer said, one of the principal investigators in the group. "The pilot project helped us to develop our methodology and to really get a scope on the breadth of human variation."

Batzer said that so far, the group had discovered far more variability within the human genome than was ever expected. Though the pilot study only reports the analysis of the first 185 sequenced genomes, the group is currently more than halfway to their overall goal of 2,500 genome sequences.

The first human genome was sequenced through the Human Genome Project, began in 1990, when the National Institutes of Health, or NIH, joined with the Department of Energy to develop an international research group capable of sequencing all 3 billion base pairs of a human genome. The project, though successful, wasn't completed until 2003 – nearly 13 years later.

"That's part of what makes the 1,000 Genomes Project such a landmark study. It really does usher us into the age of personal genomics," Batzer said. "We've gone from taking more than a decade to sequence a genome to being able to sequence about 1,000 in just a few years, and for considerably less cost."

And the value of these projects is immense, since learning more about human genetic variability is inevitably tied to our understanding of disease susceptibility, inheritance and mutational processes, thus directly impacting human health.

According to Batzer, the full study will give more insight into the heredity of genomic traits, whether positive or negative. It will allow scientists to understand where parts of our genomes are changing, how fast and perhaps why. It will also offer the opportunity in the not-so-distant future for testing the genomic predisposition of passing on certain disorders to future generations to and to gain new insight into the genetic basis of these disorders.

"Personal genomics? This was just a pipedream a few years ago," Batzer said. "Now, we're changing the ballgame. There are so many disorders that would be able to be diagnosed and impacted with this technology once it's completely developed."

The project involves several hundred scientists from all over the world. Simply coordinating research efforts was a significant undertaking.

"It's been a true pleasure to work with all these amazing scientists from around the world. Getting to know them and exchanging ideas while working on a project this big and this important is one of the highlights of my career," Batzer said. "LSU is playing a significant role in taking the world to the next step in genomics, and I don't think we're very far removed from seeing those results start to show up in our day-to-day lives."

INFORMATION: Related Links

Mark Batzer's Research Lab batzerlab.lsu.edu

National Human Genome Research Project www.genome.gov

1,000 Genomes Project www.1000genomes.org