Study of Idiopathic Disease in Humans

Trial ID:
IRB-11-5769
Eric J Topol, MD
This study is using genomic sequencing to search for potential genetic causes of undiagnosed diseases. The study requires a meeting with a study coordinator and a blood draw.

Inclusion Criteria

Patients must:

  • Have a disease or condition that, despite ongoing care and follow-up by a physician or other health care provider, remains undiagnosed.
    The disease or condition may benefit from the use of genomic strategies for suggesting new diagnoses and/or novel interventions (i.e., the symptoms appear genetic based on either family history or a sign that the symptoms have a shared underlying cause)
    Has disease or condition that is serious and/or severe (i.e., life and/or quality-of-life threatening as determined by the Clinician Panel)
    Has a life expectancy of more than 6 months
    Has a physician who is willing to participate in the study, who will accept responsibility for return of genomic results and any clinical decision-making on the basis of any results provided

Exclusion Criteria

Patients must not:

  • Has a significant medical or psychiatric condition, which, in the medical judgment of the Clinician Panel, may interfere with participation
    Is unwilling or unable to grant informed consent if they do not have a legal guardian who has authority to sign a consent form on their behalf.

Contact Info: