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GEMS Meeting Focuses on Genome Variability

By Eddy Ball
May 2009

John E. French, Ph.D.
French said that understanding copy-number variation can help scientists better explain how genetic variability influences the gene-environment interactions linked to disease. (Photo courtesy of Steve McCaw)

Mike Resnick, Ph.D.
Resnick joked about being overdressed for the occasion. "For those of you who don't recognize me, I'll take off my jacket," he quipped. He also got laughs when he explained the "shift happens" concept of mismatch repair. (Photo courtesy of Steve McCaw)

David Threadgill, Ph.D.
Threadgill argued that the standard paradigm used in toxicology and drug development is not adequate for identifying individual variation in response to environmental exposures. (Photo courtesy of Steve McCaw)

Barbara Shane, Ph.D., Min Shi, Ph.D. and Liwen Liu
National Toxicology Program Staff Scientist Barbara Shane, Ph.D., left, joined Biostatistics Branch (BB) Research Fellow Min Shi, Ph.D., center, and BB Computational Biologist Liwen Liu, right. (Photo courtesy of Steve McCaw)

Carl Blackman, Ph.D.
Veteran GEMS member Carl Blackman, Ph.D., is a research scientist in the EPA Environmental Carcinogenesis Division with research interests in the influence of DNA methylation on the expression of tumor suppressor genes. (Photo courtesy of Steve McCaw)

Lee, Resnick, French, Threadgill and de Villena
The speakers joined French for a group photo. Shown, left to right, are Lee, Resnick, French, Threadgill and de Villena. (Photo courtesy of Steve McCaw)

The Genetics and Environmental Mutagenesis Society (GEMS) held its Spring Meeting April 13 at the U.S. Environmental Protection Agency (EPA) Auditorium in Research Triangle Park. The program, organized and facilitated by GEMS President-elect and NIEHS scientist John E. French, Ph.D., who is acting chief of the National Toxicology Program Host Susceptibility Branch, involved an afternoon of invited lectures on the evolution of genome architecture and the inheritance of complex chromosome structural variations that impact behavior and disease susceptibility.

GEMS President and EPA molecular biologist Jeff Ross, Ph.D., welcomed the approximately 150 attendees before turning the program over to French, who introduced the speakers.

The speakers followed biological changes in genomic architecture from double-strand break repair in yeast, through genetic variation in mice strains and their utility in predicting cellular response to toxicity, to the implications of structural genomic variation in humans. French told the audience that the talks would all tie into a growing body of "intense research on understanding the role of copy number variation (CNV) in genetic susceptibility" to chronic diseases.

The program began with a discussion by NIEHS Principal Investigator Mike Resnick, Ph.D., on "Double-Strand Breaks and Repair: Reconfiguring the Genome." The central premise of Resnick's research in the yeast model is that, along with their role in protecting the organism, "double strand breaks may [also] be places of remarkable potential for mutability" - leading to aberration, amplification and changes in CNV. Understanding the molecular events involved in breaks and their repair through recombination, Resnick explained, could provide a key to "how these breaks can open up the genome to reconfiguration."

Moving on to the mouse model, University of North Carolina at Chapel Hill (UNC-CH) Associate Professor Fernando Pardo-Manuel de Villena, Ph.D. ( Exit NIEHS, addressed strain variation in his talk on "The Mouse Genome: It Takes Three to Make a Mouse." Working with data from the NIEHS mouse genome sequencing project of 15 inbred and wild-derived mice strains, de Villena has uncovered genomic variations that developed over an estimated 15 million generations of reproduction and breeding. His work involves both understanding those variations, including CNV and epigenetic alterations, and the development of a better mouse model for researchers studying complex diseases linked to multiple genes at different locations in DNA.

David Threadgill, Ph.D. ( Exit NIEHS, chair of the Department of Genetics at North Carolina State University (NCSU) and a professor at NCSU and UNC-CH, outlined work that converges at several points with de Villena's lines of research. Threadgill is involved in the Collaborative Cross project that is working to produce a thousand highly diverse, highly randomized mouse strains as a reference population. In his talk on "Systems Biology and Functional Genomics Approaches for the Identification of Cellular Responses to Toxicity," Threadgill discussed his use of new mice strains and molecular and proteomic tools for identifying genes involved in responses to drugs and other toxic compounds that can vary significantly from individual to individual. Threadgill has explored sporadic colorectal cancer and the link between genetic variation and resistance against and susceptibility to the more invasive forms. These cancers are characterized by flat and depressed polyps that are much more difficult to identify with standard colonoscopy.

Rounding out the theme of the program with a focus on humans was Harvard Medical School Associate Professor and Principal Investigator Charles Lee, Ph.D. ( Exit NIEHS, who spoke on "Our Incomplete Understanding of the Human Genome: The Impact of Structural Genomic Variation." Lee explained that structural genomic variations "are not single base-pair changes, but a gain of specific DNA sequences, deletions, insertions or translocations, and, of course, conversions... all contributing to [CNVs and] our uniqueness from one another." He said that a map of CNV in the human genome developed by his group shows humans are genetically far more diverse than previously expected. It should even be possible, he noted, to distinguish between individual twins by mapping their individual genomic architecture.

Transitioning to the GEMS Fall Meeting

Twice each year, GEMS offers an affordable way to introduce students, postdoctoral fellows and area scientists to leading-edge research in genetics and mutagenesis and learn more about new trends in biomedical research. Dues for the group are an affordable $5.00 per year for students and $10.00 per year for others. For students, registration fees for the meetings are less than the value of the food and refreshments served.

In 2009, the program of the Spring Meeting will be continued at the full-day GEMS Fall Meeting on October 5 at the William and Ida Friday Center in Chapel Hill. As in previous years, the program will be divided between presentations by outstanding senior scientists and poster and oral presentations by students and trainees.

In their part of the program, young scientists compete with their peers for cash prizes ranging from $250 for the best posters to $1500 for best oral presentation. Winners typically use their grants for attending professional meetings they might otherwise have been unable to afford. The GEMS competition gives students and trainees from colleges in North Carolina, NIEHS and EPA an affordable opportunity to fine-tune their presentation skills and network with senior investigators and peers.

Serving senior investigators, postdoctoral fellows and students from NIEHS, EPA and several universities in North Carolina since 1982, GEMS has been an important part of the scientific experience for hundreds of researchers and students. Over the years, NIEHS and EPA have been generous with their financial and in-kind support, and both agencies have been well represented in the membership and governance of the organization.

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