Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank

Summary

Participation Requirements

Description

Our goal with the Williams syndrome (WS) and Supravalvular Aortic Stenosis (SVAS), deoxyribonucleic acid (DNA) and Tissue Bank is to collect enough samples from individuals with this rare condition to ask questions about the genes that cause the many WS and SVAS related phenotypes, and to determine ...

Our goal with the Williams syndrome (WS) and Supravalvular Aortic Stenosis (SVAS), deoxyribonucleic acid (DNA) and Tissue Bank is to collect enough samples from individuals with this rare condition to ask questions about the genes that cause the many WS and SVAS related phenotypes, and to determine the genetic and environmental changes that modify the severity of disease from person to person. In addition, we would like to learn more about the natural history of these conditions and if there are environmental or genetic signatures that are associated with symptom presence. The protocol detailed here will provide for the collection of historical information, laboratory and imaging data, DNA and tissue to perform these studies now and in the future. Because technology changes rapidly and because this is a rare condition, our goal is to generate a collection that will be available for analysis for many years. In addition to DNA and tissue collection proposed, we would like to begin to use the specimens collected here to continue to ask questions about modifiers of vascular disease severity as well as effects on other organ systems in WS and SVAS.

Tracking Information