Leading the way to a cure

Lupus Genetics

In January 2008, SLEGEN published data in Nature Genetics that identified 13 genes linked to women with lupus. Researchers studied the DNA of more than 6,700 women including individuals with lupus, their family members and control subjects. Researchers sifted through a massive database and scanned the entire human genome for more than 317,000 single nucleotide polymorphisms (SNPs), or small genetic variations that may occur within a person’s DNA, to pinpoint those associated with lupus.  SLEGEN was among the first to utilize an advanced chip technology that allowed for this rapid scanning and gene identification.

The initial data has allowed researchers to move into new phases of study to more clearly delineate genetic variations across multiple ethnicities and between other autoimmune diseases.  The team has spent the last three years looking closely at African-American and Hispanic populations and genetic variations responsible for lupus in these groups. 

The ALR is continuing its commitment to lupus genetic research and SLEGEN through funding of its Functional Genomics and Molecular Pathways (FGMP) in SLE Grant.  Since the FGMP’s inception, the ALR has awarded over $4 million in innovative and crucial research studies.  Building on this genetics-focused approach, an additional $500,000 in funding for studies that utilize a highly specialized Immunochip that hones in on the identified genes has been awarded.  These studies engage in a higher level of specificity with the goal of understanding which genetic variants influence specific aspects of the disease. The team is conducting genome-wide studies in more than 10,000 individuals from multiple ethnicities including African American, Hispanic, Native American and Asian descent.  These studies will likely result in a greater understanding of how genetic variance impacts age of disease onset and lupus-related complications common with the disease.  Furthermore, the research will allow scientists to assess the correlation of lupus genetics to that of other autoimmune diseases.  These genes are thought to have some commonalities that may tell us more about autoimmune diseases and what genetic variations influence each disease, bringing us closer to finding effective treatments.

“The formation of SLEGEN and its success has helped secure additional support and funding from organizations such as the NIH.  This would not have been possible without the ongoing support from the ALR.” -- Tim Vyse, PhD, Professor of Rheumatology at the Imperial College, London and a collaborator, Human Lupus Genetics Study at Hammersmith Hospital.

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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