The US has opened a national program for the study of nameless diseases
The US National Institutes of Health (NIH) is launching a program to work with patients whose diseases are so rare that they still do not even have a name, AP reports.
For a pilot study, doctors are looking for 100 such patients. By placing them free of charge in the main state hospital and conducting complex research, scientists want to understand what these people are sick with.
"We hope that we will not just provide some support to them, but also gain important new knowledge," says program director Elias Zerhouni.
This program for the study of "mysterious diseases" will help those who currently cannot receive medical care because doctors could not bring their symptoms under some kind of diagnosis.
For example, Amanda Jung is a typical victim of delayed medical progress. At the age of 3.5, she was diagnosed with a leg infection. But the doctors didn't know what it was and how to treat it. By the age of 8, she had the first signs of gangrene, and according to doctors, the leg needed to be amputated urgently. However, the study showed that the girl's immune system is satisfactory except for an inexplicably low number of white blood cells.
In 1990, shortly before the amputation, desperate parents brought her to the NIH, where the hospital director, expressing regret for his impotence at the moment, promised to do his best to understand the nature of the disease.
In 2003, this mysterious disease finally got a name. As a result of gene research, an extremely rare mutation was discovered, which was called a deficiency of the IRAK4 protein.
However, there is still no treatment for this disease. Jung, 26, hopes that thanks to her volunteer participation in the research program, someone will still be able to get the necessary help in the future.NEWSru.com