At the intersection of two important medical fields—immunology and genomics—lies immunogenomics, an area of research that explores the ways in which the human genome interacts with disease. This approach already has helped doctors diagnose a form of cancer a year earlier than previously possible.
In order to explore the topic further, leading researchers from around the world will gather September 29 to October 1, 2014, for the HudsonAlpha Science 2014 Conference on ImmunoGenomics at the HudsonAlpha Biotechnology Campus in Huntsville, Al.
The conference sessions will look at the latest research in a variety of areas of immunogentoics: "Genetic Regulation of Pathogen Sensing," "The Microbiome, Genetics of Complex Disease," and "Medical Genomics, Clinical Applications."
"There has been a growing interest in this field, as it helps researchers better determine susceptibility to disease," said Kristen Mueller, a senior editor at Science, and an organizer of the conference. "In the last decade, technology has helped researchers better understand the genome—and during the past three to five years, that knowledge has been applied to understanding the immune system. [That's] because various immune-cell populations of interest are relatively easy to isolate."
"Immunogenomics, in my opinion, is an approach to use genomics technology to better understand the immune system and its role in infections and autoimmune diseases," said University of Alabama-Birmingham Professor of Medicine S. Louis Bridges, Jr. Bridges studies the connections between genomics and the autoimmune disease rheumatoid arthritis. "We are looking at specific populations, such as African Americans, to determine what clues we can find from the genome that may impact immunity and autoimmunity," he said.
Autoimmune diseases are particularly difficult to treat. In patients with an autoimmune disorder such as multiple sclerosis, celiac disease and Addison's disease, the immune system is unable to distinguish between healthy body tissue and antigens. Those antigens may include bacteria, viruses, toxins or cancer cells. The result is an immune response that damages or destroys normal body tissues.
Discovering the links between the genome and the immune system is important because people with autoimmune diseases are currently treated with drugs that suppress immunity, and as a result, they are vulnerable to infection with other diseases. Immunogenomics could lead to the production of new medicines that can treat diseases in specific ways based on a person's genome.
Because immune responses are very specific to each individual and to that person's environment, research in immunogenomics can be a basis for personalized medicine, added Elizabeth Newton, Vice President for Research Affairs at HudsonAlpha.
One of the pioneers in the field of immunogenomics is Jian Han, chair of the conference's organizing committee and a speaker at the conference who will discuss his research at the conference. Han leads HudsonAlpha's Repertoire 10,000, or R10K, project, an international collaborative to identify T- and B-cell receptor sequences that can serve as biomarkers for disease diagnoses. The group is looking at 10,000 samples, collected from 100 patients in each of 100 diseases, in the hopes of diagnosing diseases earlier, developing new and better therapy options, and identifying opportunities for new vaccines. Han will be speaking about his research at the conference.
The diseases that Han and his colleagues are studying are ones that clearly are linked to the immune system and have high incidence of high mortality rates, such as Crohn's disease, cancer, and Parkinson's disease, so that earlier or better diagnoses would improve patient outcomes. By looking at people with diseases who have similar genomic signatures and similar components of their immune systems, researchers can better identify the pathways for disease development, he said. One California company is already commercializing a method for physicians to examine the immune system to diagnose the leukemia a year earlier than can be done with other methods.
Twin studies explore genome and immune system
Davis is well known for identifying many of the T-cell receptor genes, which are responsible for helping cells to recognize a diverse repertoire of harmful antigens. The immune system produces antibodies that can destroy these harmful substances.
Davis and his colleagues are just finishing a 212-person study of twins that they believe will lay the groundwork for a much broader understanding of the role of genetic variations in the immune system, which has been implicated in many diseases. They are conducting an intensive study of hundreds of immune system biomarkers to try to determine whether they are largely driven by heritable or non-heritable influences.
Twin studies have shown that the genome can play an important role in disease development, but is not wholly responsible. "Identical twins where one twin has developed an autoimmune disease are much more likely to develop that disease, a huge difference. But other factors, including different infectious diseases and the immune responses to those diseases, probably also contribute as well," he said.
Looking for treatments for autoimmune diseases
Bridges will be chairing a session on "The Genetics of Complex Disease." The genome plays a role in determining which people get rheumatoid arthritis and contributes about 30 percent of the risk for developing the disease, he noted.
Drugs are available that treat rheumatoid arthritis according to specific pathways within the immune system or by targeting certain cells, Bridges said. If researchers could better determine which pathways are active in a particular rheumatoid arthritis patient, doctors might be better able to choose the best therapy. Hopefully, that would increase treatment efficacy and diminish the side effects caused by treating that patient with a drug targeting another cell or pathway, he added.
"We aren't there yet, however, " Bridges said. Research to identify markers that connect specific genes with immune responses have not yet been conclusive, but does contribute to an understanding of immunogenomics, he said.