Leading the way to a cure

2012 SLEGEN Grants

The autoimmune responses that underlie lupus are characterized by the presence of autoantibodies (autoAbs) and T cells that turn their protective defenses against self tissue rather than invader pathogens. Genetic studies suggest that a mutation within a gene called integrin CD11b increases the risk of developing lupus, and, in those who do develop the disease, results in a more severe course.

Preliminary data from Dr. Yan's group suggests that CD11b is expressed on all stages and subsets of B-lymphocytes. These lymphocytes are responsible for producing the autoantibodies that attack self tissues and organs. Strikingly, B cells with CD11b mutations divide more rapidly and survive better than those without the mutation. Thus, it appears that the CD11b mutation may make it easier for this lymphocyte subset to become activated and drive disease processes.

This grant will be used to better understand the role of the mutation in those pathways.

What this study means for people with lupus: Better understanding the genetic mutation and its role in lupus can help identify novel targets for new drug development.

SLEGEN Consortium—ImmunoChip Study

The SLEGEN project has realized tremendous success since the ALR's initial founding of the group in 2005 and is now taking the research to a whole new level. Utilizing the most advanced technology available, called the ImmunoChip, SLEGEN scientists are more closely examining the genes that were identified in the most recent round of studies. This highly specialized and powerful tool is allowing researchers to engage in an even greater level of detail because the information contained on the ImmunoChip is based completely on findings from previous genetic studies, which means the information is extremely focused and specific. The new technology offers scientists the amazing ability to study hundreds of thousands of genetic variants – 250,000 to be exact – in more than 10,000 participants.

This landmark study will allow SLEGEN scientists to study - in unprecedented detail -ethnicity and lupus, autoimmune disease commonalities, and gene variants & biologic pathways. Understanding the genetic basis may help clinicians more closely predict when an individual might develop lupus and the complications he or she may experience and to what degree, leading to effective disease management and more precise treatments.

The realistic hope is that the ImmunoChip study will reveal, in enormously expanded detail, the critical roles that genetic variance and ethnicities play in predisposing an individual to developing lupus, age of disease onset and lupus-related complications common with the disease.

1.5 million

people in the U.S. have Lupus.

172 million

dollars committed to lupus research by the Lupus Research Alliance.

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