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This research is being done to learn more about possible genetic causes of currently undiagnosed conditions, and to find out how the development of new technologies, such as DNA sequencing, can increase knowledge of the role genetic variants play in disorders and possibly how genetic variants may help de-termine the best treatment options.
The recent development of new technologies has increased our ability to understand how genetic mutations are associated with disease. Using these technologies to find the genetic variants responsible for rare diseases is a rapidly growing field and has already begun to transform the way conditions with unknown causes are diagnosed and treated.
Hypothesis: Identification of new genomic variants associated with idiopathic diseases and/or diseases of unknown etiology will advance medical knowledge about rare and common diseases.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with idiopathic diseases | Study population is limited to individuals with a rare severe illness, and/or their family members. |
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| Measure | Description | Time Frame |
|---|---|---|
| Genomic sequencing of tissue | Generation of genomic information that may inform the diagnosis and/or treatment of idiopathic diseases and/or diseases of unknown etiology. | Day 1 |
| Measure | Description | Time Frame |
|---|---|---|
| Identification of modifying genomic alterations | Identification of modifying genomic alterations that may indirectly exacerbate the condition. | Day 1 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with idiopathic diseases, referred by their physician.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Scripps Translational Science Institute | La Jolla | California | 92037 | United States |
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| ID | Term |
|---|---|
| D035583 | Rare Diseases |
| ID | Term |
|---|---|
| D020969 | Disease Attributes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
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Blood, saliva, or tissue will be obtained after informed consent is completed.