Currently there is no cure for the chronic autoimmune disease which causes inflammation in organs and joints and affects movement and the skin—sometimes with debilitating symptoms and complications that can be fatal.
Lupus affects around a quarter-million people in the US and UK, and current treatments are predominantly immune-suppressors which work by dialing down the immune system to alleviate symptoms.
But scientists recently reported carrying out whole genome sequencing on the DNA of a Spanish child named Gabriela, who was diagnosed with severe lupus when she was 7 years old. Such a severe case with early onset of symptoms is rare and indicates a single genetic cause.
In their analysis published April 27 in Nature, the researchers report finding a single point mutation in the TLR7 gene. Via referrals from the US and the Shanghai Renji Hospital in China, they identified other cases of severe lupus where this gene was also mutated.