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.