A discovery was recently made that could help with massive improvements in patients with lupus in the future. Scientists who studied a young patient with lupus found a gene mutation that could lead to the development of better, more detailed treatments for incurable autoimmune disease.
According to ScienceDaily, researchers from the Center for Personalized Immunology at the Australian National University (CPI) conducted a DNA test on a Spanish girl named Gabriela, who was diagnosed with severe lupus when she was just seven years old.
Scientists have discovered a mutation in the TLR7 gene, whose main function is to fight viruses, but when over-activated, it attacks a person’s immune system. Lupus causes inflammation of organs and joints, can severely affect the skin and causes fatigue and tiredness.
According to ScienceDaily, through the Sino-Australian Center for Personalized Immunology (CACPI), a research team full of scientists has discovered other cases of lupus in which the gene has also mutated.
Carola Vinuesa, MD, senior author of the study, principal investigator at the CPI and co-director of the CACPI, said in a statement: make patients more susceptible to infection.
“There was only one new treatment approved by the FDA in the last 60 years. This is the first time that a mutation in TLR7 has been shown to cause lupus, providing clear evidence of one of the ways in which the disease can occur.
Researchers are currently working with pharmaceutical companies every day to find newer and more effective treatments or to reconfigure existing ones that target the TLR7 gene directly.
Nan Shen, Ph.D., co-director of CACPI, told Science Daily: “By confirming the causal link between the gene mutation and the disease, we can begin to look for more effective treatments.
Gabriella, now a teenager, has high hopes that the study will encourage and give hope to others with lupus.
“I hope that this discovery will give hope to people with lupus and make them feel that they are not alone in this battle,” she said. “We hope that the research can continue and end with specific treatment, which could be of benefit to so many lupus warriors who suffer from this disease.
For more information about lupus, contact your local doctor or specialist.
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