rare & undiagnosed diseases

The vital role played by data sharing when it comes to rare & undiagnosed diseases

In 2015, there was the launch of the Agency for Medical Research and Development of Japan under the strong initiative of ‘Shinzo Abe’. Data sharing plays a significant role when it comes to unusual & undiagnosed diseases since it ensures that there is the right diagnosis for the patient. Generally, there are 2 categories of patients suffering from diagnostic odyssey under states of no diagnosis: Ultra unusual and unidentified diseases which aren’t mentioned in any article/textbook, and known diseases which are harder to detect hence the patients remain mostly undiagnosed. However, the point of view of patients who are undiagnosed, both the categories remain practically the same.

Of particular significance is data sharing across national borders. To deal with unusual & undiagnosed diseases, it is important to allow international cooperation to develop data & knowledge bases to get as much patient data as possible registered. It is also vital to constantly gather and update data on patients’ symptoms, age, pathogenic gene variants, and addresses to contact physicians who take care of patients and families. Such attempts not only assist speed up diagnosis but also provide significant information to pharma companies developing cures and the fruit of their research can be delivered more quickly to patients. Based on the evidence that all patients have the complete right to participate in clinical research & trials, the current authors believe that there must be an establishment of a data sharing platform.

Undiagnosed Disease Program was firstly initiated in NIH Hospital by Doctor William Gahl, who has advanced the idea to Undiagnosed Disease Program -International. Japan has a half-century history of unusual disease researchers but a domestic network never existed. AMED has launched the Initiative on Rare and Undiagnosed Diseases during October 2015.

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