There has been a recent discovery that can help lead to mass improvements for lupus patients in the future. Scientists who studied a young lupus patient discovered a gene mutation that may lead to the development of better, more detailed treatments for the incurable autoimmune disease.
According to ScienceDaily, scientists at the Centre for Personalised Immunology at the Australian National University (CPI) conducted the study of the DNA of a Spanish girl named Gabriela, who was diagnosed with severe lupus when she was just seven-years-old.
The scientists discovered a mutation in the TLR7 gene, whose main function is to fight off viruses, but when too activated, attacks a person’s immune system. Lupus causes inflammation in organs and joints, can harshly affect the skin, and causes exhaustion and fatigue.
According to ScienceDaily, Through the China-Australia Centre of Personalised Immunology (CACPI), the research team full of scientists found other cases of lupus in which this gene was also mutated.
Carola Vinuesa, MD, senior author of the study, principal investigator at the CPI, and co-director of CACPI said in the following statement: “It has been a huge challenge to find effective treatments for lupus, and the immune-suppressors currently being used can have serious side effects and leave patients more susceptible to infection.
“There has only been a single new treatment approved by the FDA in about the last 60 years. This is the first time a TLR7 mutation has been shown to cause lupus, providing clear evidence of one way this disease can arise.”
The researchers are currently working every day with drug companies to find newer and more effective treatments or repurpose existing ones that directly target the TLR7 gene.
Nan Shen, PhD, co-director of CACPI, told Science Daily in a statement: “By confirming a causal link between the gene mutation and the disease, we can start to search for more effective treatments.”
Gabriela, who is now a teenager, has high hopes that the research will encourage and give hope to others with lupus.
“I hope this finding will give hope to people with lupus and make them feel they are not alone in fighting this battle,” she said. “Hopefully the research can continue and end up in a specific treatment that can benefit so many lupus warriors who suffer from this disease.”
For more information on lupus, contact your local doctor or specialist.
