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dbGaP phs000636 Whole Exome Sequencing for Familial Intracranial Aneurysm (FIA I-II) Study - Eligibility

- 11/29/22 - 6 forms, 1 itemgroup, 8 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Joseph Broderick, MD, University of Cincinnati, Cincinnati, OH, USA MeSH: Intracranial Aneurysm,Stroke https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000636 The goal of this study is to identify the genes underlying the risk of intracranial aneurysm (IA). The FIA Study initially recruited families appropriate for linkage analysis. Therefore, the recruitment focus was not only on probands with a family history of IA but also required that biological samples be obtained for at least two affected family members. Family members underwent detailed interviews for medical, social and family history, and provided blood samples for DNA extraction. Over 400 multiplex IA families were recruited and enrolled. The whole exome sequencing project aims to identify novel and rare (in the general population) genetic variants that are enriched in seven extended multiplex families with a strong familial aggregation of intracranial aneurysms.

pht003425.v1.p1

1 itemgroup 4 items

pht003426.v1.p1

1 itemgroup 5 items

pht003427.v1.p1

1 itemgroup 5 items

pht003428.v1.p1

1 itemgroup 15 items

pht003429.v1.p1

1 itemgroup 3 items

dbGaP phs000293 The Familial Intracranial Aneurysm Linkage Study (FIA) - Eligibility

- 10/12/22 - 6 forms, 1 itemgroup, 7 items, 1 language
Itemgroup: IG.elig
Principal Investigator: Joseph P. Broderick, MD, Department of Neurology, University of Cincinnati, Cincinnati, OH, USA MeSH: Intracranial Aneurysm,Aortic Aneurysm, Abdominal https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000293 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 are:- Recruitment of 400 (475) families with multiple individuals who have an IA through 23 (25) referral centers throughout North America, Australia, and New Zealand that represent 35 (40) recruitment sites. - Ascertainment of interviews and blood samples from all affected family members as well as their first-degree relatives. White blood cells from living persons with an IA will be cryopreserved at Coriell Institute for Medical Research for future immortalization of cells lines as indicated. - Identification of unruptured IAs by obtaining MRAs in selected asymptomatic siblings (of affected individuals). - Completion of a 10 cM genome series in persons with IAs as well as the spouses and children of persons with an IA who are deceased. We will perform finer mapping of chromosomal regions with suggestive evidence of linkage in the genome screen. - Performance of a nonparametric (allele sharing) linkage analysis, including relevant environmental factors such as smoking, to identify chromosomal regions linked to IA. Reconstruction of the genotypes of deceased affected family members will be performed. Identification of individuals who are genetically at high risk for the development of IAs would enable targeted and effective screening/prevention/treatment strategies to reduce the substantial mortality and morbidity associated with this devastating type of stroke. Only a multidisciplinary, collaborative effort to identify, accrue, and genotype FIA families will be successful in identifying sufficient high-risk families to characterize the genetic underpinnings of IA.

pht003364.v1.p1

1 itemgroup 6 items

pht003365.v1.p1

1 itemgroup 3 items

pht003366.v1.p1

1 itemgroup 14 items

pht003363.v1.p1

1 itemgroup 2 items

pht003367.v1.p1

1 itemgroup 3 items

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