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Human genetics of cardiac development and disease

Congenital heart diseases (CHD) are present in ~1% of all live births and commonly lead to malformations that require surgical intervention soon after birth or later in life. The Andelfinger lab is specialized in pediatric cardiovascular genetics and is part of a collaborative effort to map genetic single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) that lead to specific forms of CHD and related diseases. We have discovered novel genetic mutations leading to Chronic Atrial and Intestinal Dysrhythmia (CAID), aortic stenosis, bicuspid aortic valve (BAV), and thoracic aortic aneurysm (TAA) in patients. The lab currently combines approaches from clinical to basic science, and molecular biology to translational techniques, including stem cell and mouse models, organoids, epigenetics, single cell technologies, and computational modeling. Ultimately, we aim to establish better diagnostic strategies and therapeutic approaches to treat patients. 


Specific projects include:


  1. CAID: we use human stem cell and mouse models to investigate both heart and intestinal development and disease. Our goal is to better understand the specific pathogenic processes leading to CAID.

  2. Valves: as part of the Human Cell Atlas, we have created cardiac single cell transcriptomic profiles. We are computationally modeling valve development and disease and aim to apply our insights to improve the engineering of ‘valves in a dish’. We additionally use mouse models to model valve development in vivo.

  3. Noonan: The Noonan syndrome is a RASopathy caused by mutations in the RAS/MAPK pathway. We have patients in our cohort with these phenotypes and aim to better understand the role of MEK inhibitors in the treatment of this disease.


For information on open positions, collaborations, and projects, please see our contact info.

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