November 2005

Meet a Lupus Researcher

Dr. Emily Gillespie is a postdoctoral researcher in Dr. Timothy Behrens' lab at the University of Minnesota. Dr. Gillespie joined Dr. Behrens' research team in 1999, and has continued to work in the lab since earning her Ph.D. in Immunology in 2004. With a longstanding interest in scientific research and family members affected by autoimmunity, Dr. Gillespie felt drawn toward studying diseases like Lupus. A self-described "computer geek in a biologist's shoes," Dr. Gillespie uses her expertise in bioinformatics (the use of computers to collect and analyze biological information) to analyze data in the Lupus Study projects SLEGEN and ABCON. These projects produce enormous amounts of data, so Dr. Gillespie designs the experiments to see how data can reveal patterns of similarity between Lupus patients.

SLEGEN (the Systemic Lupus Erythematosus GENetics consortium) is a study supported by the Alliance for Lupus Research, with additional funds provided by the National Institute of Health and the Lupus Foundation of Minnesota. The study brings together eleven researchers from around the world in a large-scale effort to find the genes that contribute to Lupus. Doctors at the participating institutions compare DNA from hundreds of individuals with Lupus to DNA from unaffected individuals, looking for variations in the genetic code that occur more frequently in individuals with the disease. In contrast to family-based studies, which trace the inheritance of genetic variants through affected families, studies like SLEGEN analyze the DNA from unrelated individuals with Lupus. This allows researchers to determine which alleles are more prevalent in the population of people with the disease as compared to healthy controls. It is important for the researchers to obtain samples from as many individuals as possible because, as Dr. Gillespie explains, "Lupus is a complex genetic disease, and in different patients there could be different combinations of genes working together to cause disease." Since individuals' genes vary, researchers need many samples in order to pinpoint which ones are actually involved with Lupus.

Dr. Gillespie is also involved with the ABCoN (Autoimmune Biomarkers Collaborative Network) project, a study supported by the National Institute of Health in collaboration with North Shore Hospital in Long Island, New York. ABCoN researchers examine the DNA, RNA, proteins, and cells in the blood of individuals with Lupus. One major strength of this study is that multiple blood samples are collected from each patient at regular intervals. By following patients over time, the study aims to identify biomarkers in the blood that could help with diagnosis, assessment of disease activity, and treatment decisions for patients with lupus.

Dr. Gillespie and other researchers working on the Lupus Study projects hope to find better ways to diagnose and treat this notoriously complex disease. For example, Dr. Gillespie explains, "If we could find a gene or set of interacting genes that contribute to Lupus, we could use that as a possible new drug target." Because large numbers of samples are needed to successfully identify the genes implicated in Lupus, Dr. Behrens' staff at the University of Minnesota encourages individuals with Lupus to participate in the Genetics of SLE study. Participation is free, and travel to the University of Minnesota is not required. To learn more about participating in the Lupus Study, click on What Does Participation Involve? or Contact Us. You can also email us at recruiter@lupusstudy.org or call toll-free at 1-800-515-8787.

May 2005

SLE Genetics Consortium (SLEGEN), funded by the ALR:

"Over the past year the ALR has embarked on the journey of reviewing the global needs for lupus research. One important outcome of this new and still ongoing strategic process is the launch of the first-ever consortium of lupus researchers, whose members have agreed to join forces and pool resources in the field of genetics. Members of the International SLE Genetics (SLEGEN) Consortium first gathered at an ALR-sponsored lupus genetics summit held in New York City in July 2004.

Although the exact causes of lupus are unknown, evidence from human and animal studies suggests that genes play an important role in lupus susceptibility. In particular, researchers believe, inheriting certain genes that contain small variations or abnormalities in the genetic code make some people more likely to develop lupus. Lupus is a complex genetic disease, meaning that multiple genes are involved and these genes interact with each other and/or with environmental factors to produce disease. Furthermore, different gene combinations of variations may conspire to cause lupus in different individuals. These characteristics make finding the genes involved in lupus a significant challenge.

A major obstacle in the search for lupus susceptibility genes has been the inability of research teams to assemble the very large numbers of patient samples and develop the technologies that are essential for identifying genes responsible for complex genetic diseases. The SLEGEN initiative will facilitate the search for lupus genes by pooling patient samples from the Consortium, which contains many scientists worldwide working on the genetics of human SLE. Members of the SLEGEN Consortium will all contribute genetic material (DNA) collected worldwide from patients with lupus.

What This Study Means for People with Lupus: By analyzing DNA sequences from large numbers of affected individuals and controls, scientists can hone in on the individual chromosomes where genes involved in lupus susceptibility are likely to be found. This project will launch a new era in the search for genes in human lupus, setting the stage for future cooperative efforts in the SLEGEN Consortium. Identifying the genes involved in lupus will provide a better understanding of the disease process, which will lead to better treatments. It may also lead to improved diagnosis and prevention of lupus and make it possible to target particular treatments to those individuals most likely to benefit."

The Consortium is being led by Dr. Timothy Behrens at the University of Minnesota. Other sites participating at this time include:

Dr. John Harley, Oklahoma Medical Research Foundation
Dr. Marta Alarcon, Uppsala University, Sweden
Dr. Chaim Jacobs, University of Southern California
Dr. Lindsey Criswell, University of California San Francisco
Dr. Betty Tsao, UCLA
Dr. Peter Gregersen, North Shore University Hospital
Dr. Carl Langefeld, Wake Forest University
Dr. Stacey Gabriels, Broad MIT
Dr. Tim Vyse, Imperial College, London
Dr. Robert Kimberly, University of Alabama


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