Idiopathic Diseases of Man (IDIOM)
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.
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Official Title:||Idiopathic Diseases of Man (IDIOM)|
- Genomic sequencing of tissue [ Time Frame: Day 1 ] [ Designated as safety issue: No ]Generation of genomic information that may inform the diagnosis and/or treatment of idiopathic diseases and/or diseases of unknown etiology.
- Identification of modifying genomic alterations [ Time Frame: Day 1 ] [ Designated as safety issue: Yes ]Identification of modifying genomic alterations that may indirectly exacerbate the condition.
Biospecimen Retention: Samples With DNA
Blood, saliva, or tissue will be obtained after informed consent is completed.
|Study Start Date:||September 2011|
|Estimated Study Completion Date:||September 2015|
|Estimated Primary Completion Date:||September 2015 (Final data collection date for primary outcome measure)|
Patients with idiopathic diseases
Study population is limited to individuals with a rare severe illness, and/or their family members.