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

  • 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

  • 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:

  • Sarah Topol, RN
  • idiom@scrippshealth.org
  • 858-554-5747