Innovative genomic approach identifies rare Long QT syndrome carriers

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A new study from Vanderbilt University Medical Center has demonstrated the use of a genetic analysis method called DRIVE to identify undiagnosed cases of Long QT syndrome. This rare genetic disorder can lead to heart rhythm abnormalities and sudden cardiac death. The researchers identified carriers of disease-causing genetic variants by analyzing shared genomic segments among study participants. By using this approach, the researchers were able to pinpoint carriers of a specific gene variant associated with Long QT syndrome, highlighting the potential of this method to identify cases of genetic diseases in large populations. The study was published in the journal Nature Communications and was supported by the National Institutes of Health and the American Heart Association.

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