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What is the GREGoR Stanford Site (GSS) study?

The GSS is a research study funded by the National Institutes of Health. Our Stanford Site is one of the six sites of the GREGoR Consortium working to improve diagnosis and care of patients with undiagnosed diseases. You can learn more about the GREGoR Consortium at

Who is eligible?

  • Individuals who do not have a diagnosis that explains their objective findings, but are highly suspected to have a Mendelian disease.
  • The individual (or legally authorized representative) agrees to the collection, storage and sharing of information and biomaterials in an identified fashion amongst the GREGoR centers, and in a de-identified fashion to research sites beyond the consortium.

As a research study with a defined set of resources, we are not able to enroll all individuals who may be eligible for the study.

Common reason people are not eligible:

  • The individual has a genetic diagnosis that explains their objective findings.
  • Our research resources appear unlikely to help find a diagnosis.

How do I apply?

Health care providers interested in referring their patients to the GREGoR Stanford Site should see Referring Providers to learn how to refer their patients.

I'm a physician. How do I refer a patient?

See Referring Providers page to learn how to refer a patient.

I’m a patient. How do I refer myself?

We are currently only accepting individuals who have been referred to the study by their healthcare provider.

What happens if I am selected for enrollment in the GREGoR Stanford Site study?

If you are selected for enrollment, you will be contacted and offered the opportunity to consent for participation in the study. We may also offer enrollment to members of your family. We would then collect samples for genetic testing.

I submitted an application but haven't heard back yet. Should I call?

Please allow us at least 30 days to review your initial application. If it has been more than this, yes. Contact the GREGoR Stanford Site by emailing or by calling (650) 497-0454.

I'm having technical trouble submitting my application online. Who do I contact?

Contact the GREGoR Stanford Site by emailing or by calling (650) 497-0454.

If I am enrolled in the GREGoR Stanford Site, will I be guaranteed a diagnosis?

No. Although we expect to find a diagnosis for some participants, we anticipate that this will not be possible for everyone.

I cannot travel. Am I still able to participate?

Yes, you are still able to participate even if you cannot travel. All surveys and questionnaires are web-based and we offer remote sample collections.

Is a provider’s referral required to participate?

Yes, we do require a healthcare provider to refer participants to the study.