In a potential ray of hope for thousands of people with undiagnosed conditions, the Japan Agency for Medical Research and Development has launched a project to refer such patients to a centralized network of specialists for genome analysis.
The Initiative on Rare and Undiagnosed Diseases (IRUD), launched Wednesday, is designed to help people suffering from medically unidentified conditions find a diagnosis and receive expert consultation, taking advantage of advances in genetic testing techniques.
Currently, there are about 7,000 diseases that result from genetic abnormalities that affect nerve and metabolic systems. But because each has only a few patients, doctors are often unable to give an accurate diagnosis, said Kenjiro Kosaki, a professor of medical genetics at Keio University Hospital in Tokyo and the sub-leader of the project.