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Exon-screening in Reversible Cerebral Vasoconstriction (RCVS)


Primary Investigator (UMASS): Susanne Muehlschlegel, MD MPH

Design: Prospective, biobanking study

Funded by: UMASS Department of Neurology

Objectives: To investigate the genetic basis of RCVS using exome capture and deep sequencing.

Aim 1a: To collect DNA (from blood or saliva) from patients with RCVS using strict diagnostic criteria, and corresponding age-, ethnicity- and gender-matched controls.

Aim 1b: To collect the full set of phenotype information on RCVS.

Aim 2: To perform exome capture and deep sequencing of all exons in the RCVS.

Aim 3:To validate gene variants detected in Aim 2 in RCVS cases and run these variants in controls to rule out polymorphisms.

Anticipated study duration:  Ongoing, 1-5 patients /year

UMASS IRB docket number: 13490