phs000636
CIDR_Whole Exome Sequencing for Familial Intracranial Aneurysm (FIA I-II) Study
Our long-term objective is to identify susceptibility genes that are related to the formation of intracranial aneurysms (IA). Rupture of IAs occurs in 16,000 to 17,000 persons in the U.S. annually and nearly half of affected persons are dead within the first 30 days. An additional 6,000 to 7,000 persons with unruptured IAs are identified each year. Accumulated evidence indicates that a genetic component plays an important role in the development of IAs, but specific loci affecting the risk of IA have not been identified. The primary hypothesis of this study is that there are specific human chromosomal regions that are associated with an increased risk of IAs. Specific Aims of the pilot study are:   1. To use whole exome sequencing to identify novel, rare (in the general population) genetic variants that are enriched in 7 extended multiplex families with a strong familial aggregation of intracranial aneurysms.  2. To screen the newly identified variant... (for more see dbGaP study page.)