The Manton Center for Orphan Disease Research Gene Discovery Core (GDC)

Inspire will survey its members who have eczema/atopic dermatitis or have had cancer to identify patients that match the health criteria for the study including 1) a diagnosis of one of the two diseases under investigation, and 2) evidence of a family history of the disease. Participants will be referred to the Manton Center by Inspire for outreach and consent. After consenting to participation, participants will be asked to participate in the study by providing 1) relevant medical information/records and family history and 2) a blood/saliva/DNA sample for genetic analysis.

The health and family history information allows the investigators to gain a better understanding of the specific disease symptoms seen in an individual or family. The blood/saliva sample is used to obtain DNA which can then be analyzed to identify if there may be a genetic basis of disease pathophysiology using various tools including exome genomic sequencing, genetic variant analysis, familial genotyping and cross-mapping with disease phenotype and severity.

This study will be ongoing for an indefinite period of time, and participation is continuous unless an individual requests to be removed from the study. Participants can request to withdraw at any time. Active participation primarily takes place at the time of enrollment and on a case-by-case basis thereafter for providing clinical updates and/or additional samples. Risks include those associated with routine blood draws/saliva sample collections and emotional distress associated with genetic and/or medical research. Risks are minimized as much as possible by an open consent process and privacy/confidentiality safeguards, including a certificate of confidentiality from the NIH and the use of de-identified, numerical codes to refer to participants with collaborators.

Although there may not be immediate, direct benefits to participants, the possible benefits of this study include: 1) the development of new diagnostic tests and more detailed prognostic information for participants and their families and their disease-linked patient communities and 2) a better understanding of the pathophysiology of these conditions, leading to the development of new potential treatments. Furthermore, this study offers to return genetic test results that are unrelated to cancer and eczema/atopic dermatitis, but are results that may impact health, like an inherited risk for cancer. The American College of Medical Genetics (ACMG) has recommended that findings identified in a subset of medically actionable genes associated with various inherited disorders be reported for those undergoing genomic sequencing. Pathogenic findings in this subset of genes will be returned to the participant.