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We are a research study called the GREGoR ("Genomics Research to Elucidate the Genetics of Rare Disease") Consortium supported by the National Institutes of Health (NIH) and taking place at Stanford University. Our goal is to improve diagnosis and care for people with undiagnosed, rare diseases.

We evaluate multiple scientific approaches for rare disease diagnoses. Through this study, we hope to enhance the development, prioritization, and application of these approaches to allow for their routine use for patient diagnoses in the future.

The GREGoR Stanford Site integrates multi-omics data (genomics, transcriptomics, metabolomics and more) to enhance genetic diagnosis and gene discovery.

We are seeking research participants who:

  • Are undiagnosed but highly suspected to have a Mendelian condition
  • Have had non-diagnostic exome sequencing and microarray testing
  • This may include patients who:
    • Have interesting variants of unknown significance
    • Have one pathogenic variant for a recessive condition
    • Have multiple affected family members

What should research participants expect?

  • Complete study surveys and provide biological samples (e.g. blood, urine, skin biopsy)
  • Collection of biological samples from parents and siblings

How may your patient benefit from our study?

  • Possible diagnosis to explain your patient or your patient’s family member's disease
  • Improve care for others with similar conditions
  • Help researchers understand the underlying causes of Mendelian disease/define new Mendelian diseases

Does the GREGoR research study provide clinical care?

  • No, the project is a research study and does not provide clinical care.

Does the GREGoR research study have a flyer?

  • Yes, click here to download the study flyer to share with interested patients and families.

How to Refer Patients to the GREGoR Stanford Site Research Study

If you are a geneticist or genetic counselor in the San Francisco Bay Area, follow these steps to refer your patient to the GREGoR Stanford Site:

Part 1

  1. Confirm your patient is interested in this study and has agreed to be contacted regarding further steps in the application process.
  2. Email us ( with “Request Referral Form” in the subject line of your message. We will send you the link to our secure “Referral Form”.
  3. Complete the “Clinician Referral Form Part One”, which captures the participant and provider’s contact information.

Part 2

Once we have received your patient’s contact information, the next steps in the application process are:

  1. We will contact your patient to complete the “Research Information Sheet”, “HIPAA Form to Authorize Release of Medical Information”, and “Personal and Family History Survey”.
  2. We will then contact you, as the referring clinician, to complete the brief “Clinician Referral Form Part Two” to provide information regarding your patient’s medical history.
  3. GREGoR investigators will assess the applicant's eligibility for the research study.
  4. We will notify you and the potential participant upon completion of our eligibility assessment.

See our FAQ to learn more about the GREGoR Stanford Site.