Despite many tests,
the cause of your illness remains unknown.
Despite seeing many doctors,
you still don’t have a clear diagnosis.

IRUD – the Initiative on Rare and Undiagnosed Diseases – is a patient participation project. By analyzing your genes, we look for clues that may help form a diagnosis. We then share this information with hospitals across Japan, so that it can lead to better diagnoses and treatments in the future.

For individuals with symptoms

Eligibility

You may be eligible for IRUD if you have symptoms that have lasted for more than six months (excluding infants), interfere with your daily life, and have not yet been clearly diagnosed. Additionally, you must meet either condition 1. or 2. below.

  1. You have objective findings that affect two or more organs and cannot be easily explained by a simple diagnosis
  2. Your symptoms suggest that there may be a genetic abnormality
    (This includes cases where blood relatives, such as siblings, have similar symptoms.)

If these conditions apply to you, you may be eligible to take part in IRUD. We collect blood samples from you, and in some cases from your parents or other relatives, to perform genetic testing.

How to join IRUD

First, consult your family doctor.

If your family doctor does not work at an IRUD-affiliated hospital, show them the IRUD brochure(in Japanese).

Your family doctor can then apply to an IRUD Clinical Center on your behalf. If the IRUD Diagnostic Board decides that comprehensive genetic analysis is appropriate for your case, you can proceed with registration in IRUD.

If your case is not accepted for registration in IRUD, we will try to guide you to other medical facilities that may be more appropriate.

Costs

There is no cost to you for genetic analysis performed as part of IRUD.

In the future, if this testing becomes part of standard medical care, you may be asked to pay.However, you will be charged for the standard consultation fees when you visit an IRUD-affiliated hospital.

Inquiries and consultation

Consult your family doctor if you would like to know more about IRUD.
You can also show your doctor the IRUD brochure(in Japanese).

You may consult with CC by e-mail if you have further questions.

Since IRUD began in 2015, we have identified 50 disease-causing new genes, new diseases or new phenotypes. There were 356 genes that are strongly suspected to cause disease (as of the end of Sep 2025).

We have analyzed DNA from 10,304 families, and diagnosis was confirmed in 4,132 families, which were designated intractable diseases or other rare diseases.

With the cooperation of the Japan Medical Association, the Standing Committee of the National University Hospital Council of Japan, and the Japanese Association of Private Medical Schools, AMED conducted a questionnaire survey of family doctors and university hospitals across Japan. The survey estimated that there are more than 37,000 patients with undiagnosed diseases in Japan. The results were published in the leading rare disease journal, Orphanet Journal of Rare Diseases, on November 20, 2018.