Genetic Diseases, Rare Diseases, Undiagnosed Diseases
Conditions
Brief summary
The purpose of this study is to create a Mayo Clinic biospecimen and data repository to support the evaluation of patients with rare and undiagnosed diseases through a structured, multidisciplinary diagnostic program.
Interventions
None listed
Sponsors
Mayo Clinic
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Patients receiving or having received care at Mayo Clinic with rare or undiagnosed conditions; of any age (including pediatric); who can provide informed consent or have a legally authorized representative (LAR). * Patients who have undergone prior standard genetic testing that was non-diagnostic; and who are nominated by a Mayo Clinic clinician sponsor and selected by the Study Team.
Exclusion criteria
* Patients with a confirmed molecular or clinical diagnosis that fully explains their phenotype * Patients unable to provide consent and without a legally authorized representative (LAR) * Patients for whom sample collection cannot be coordinated * Patients enrolled in a clinical trial that precludes ancillary genomic research (evaluated on a case-by-case basis) * Prisoners will not be included in this study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Feasibility of establishing a biospecimen and data repository | 1 year | Number of enrolled participants who complete all planned repository workflow steps, including eligibility confirmation, informed consent, biospecimen collection, clinical data abstraction, research data generation, and multidisciplinary Hackathon case review. |
Countries
United States
Contacts
CONTACTMayo Hackathon Team
PRINCIPAL_INVESTIGATOREric Klee, Ph.D.
Mayo Clinic
Outcome results
None listed