By creating a repository of clinical and genetic data, as well as tissue and other physical specimens, that can be drawn from in the future, researchers can continue to study HLHS and explore new treatment options.
To study hypoplastic left heart syndrome (HLHS), Mayo Clinic researchers in the Todd and Karen Wanek Family Program for HLHS are assembling family histories, gathering tissue and cell samples, collecting genomic information, and obtaining cardiac images from people with HLHS and their relatives.
To maximize the usefulness of this vast amount of information and material, all of it is being combined in one place: a secure vault called a biorepository. A key piece of Program for HLHS infrastructure, the biorepository allows for continued learning about the causes of and possible treatments for HLHS.
Within the biorepository component of the Program for HLHS, investigators aim to:
- Build and maintain a comprehensive, integrated HLHS biorepository that enables current and future research efforts
The HLHS biorepository will house and link together samples and data collected within the program's other three components. This includes:
- Patient and family histories. At the foundation of the biorepository are clinical records, as well as detailed family histories, of people with HLHS.
- Heart images. As echocardiograms and cardiac MRIs are performed to quantitate right ventricular performance, the images will be added to the biorepository.
- Tissues and cells. In the regenerative strategies component of the program, tissues from people with HLHS and their parents are being gathered, reprogrammed, and compared, and then placed in the biorepository to ensure their availability for future analysis.
- Genomic data. Findings from sequencing and bioinformatics work under way in the human genetics component — in the search for possible HLHS-causing genetic mutations — will become part of the biorepository.
If you have questions about the HLHS biorepository or would like to learn more about contributing to it, please contact:
Karen P. Krucker, R.N.
R.N. Study Coordinator