Genetic map may lead to new targeted treatments for scleroderma.
Scleroderma, an autoimmune disease, effects 1 out of 10,000 people in Europe and North America. It mostly effects middle-aged women and has a high death rate.
Researchers from the University of Granada have recently created the most complete genetic map of scleroderma to date.
In the study, researchers analyzed the genetic aspects of the disease. Included in the study were 5000 patients with scleroderma and 8000 non-diagnosed control subjects.
Researchers used a program called ImmunoChip to gather the data.
“The ImmunoChip was designed to explore in depth the genetic regions involved in immune system diseases. Its use in the study of scleroderma allowed us to identify 3 new genes involved in the development of the disease and to include new procedures with regard to its biology," said researcher Lara Bossini Castillo in a press release.
Through this study, researchers were able to find potential genetic associations of the subtypes of the disease. In particular, they were able to find associations in the more aggressive subtypes of the disease, such as its effect on the lungs.
A primary complication of this disease is its effect on the lungs and pulmonary hypertension, which can both shorten a patient’s life significantly.
This research can open the door to a range of targeted treatment and personalized medication andcould also lead to early diagnosis and even prevention in some cases.