Human Genetics

DNA double helix.

The human genetics team of the Todd and Karen Wanek Family Program for HLHS at Mayo Clinic is focused on uncovering the molecular basis of HLHS.

Long-term objective

By studying the genes of individuals with HLHS and their family members, researchers hope to better understand the genetic underpinnings of HLHS and identify the genetic mutation or mutations that cause the disease.

Investigative strategy

Researchers in the Todd and Karen Wanek Family Program for HLHS at Mayo Clinic believe HLHS can likely be traced to abnormal genes that cause underdevelopment of the left side of the heart. To identify such genes, the program's human genetics team conducts research including:

  • Establishing family histories and populating an HLHS biorepository. Researchers identify consenting participants with HLHS and their relatives to obtain detailed family histories. Participation in genetics studies entails donation of samples to gather DNA and plasma, which are kept in the program's secure biorepository for ongoing use in HLHS research at Mayo Clinic.
  • Detecting chromosomal abnormalities and genetic mutations. Researchers use array comparative genomic hybridization — a microarray-based analysis method — to detect gains or losses in chromosomal material (aneuploidy) in people with HLHS. Researchers also use comprehensive whole-genome sequencing and bioinformatics analyses to search for HLHS-related genetic mutations.
  • Determining mode of inheritance. In conjunction with the program's imaging and outcomes team, researchers are working to determine the manner in which HLHS-associated aneuploidy and mutations are inherited within families.