Arya Mani MD, FACC

Associate Professor of Medicine (Cardiology) and of Genetics; Director, Cardiovascular Genetics Program


Departments & Organizations

Yale Combined Program in the Biological and Biomedical Sciences (BBS): Molecular Cell Biology, Genetics and Development

Heart & Vascular Center, Yale-New Haven Hospital

Internal Medicine: Cardiovascular Medicine: Cardiomyopathy Inherited Cardiovascular Disease Program; Echocardiography (Cardiac Imaging); Cardiovascular Genetics Program

Genetics

Biography

My laboratory’s major focus is the identification of genetic causes of major cardiovascular disorders and the elucidation of their pathophysiology. Through collaborative efforts with physicians and scientist across the world we have recruited large populations of patients and families with early onset coronary artery disease and metabolic syndrome and have successfully mapped and identified number of genes for these diseases. An ongoing effort in the laboratory is to understand the function of these genes and how the mutations affect the phenotype.

Having unique access to the genetic study population, we have had the opportunity to carry out clinical studies to investigate the disease mechanisms and have made numerous novel discoveries. We have also generated a mouse model of these mutations and are actively investigating pathways that regulate insulin signaling, glucose metabolism, VLDL and LDL syntheis and clearance and atherosclerosis.


Education

  • M.D., Johannes-Gutenberg-University of Mainz , 1991

Selected Publication

  • 14. Singh, R, Smith, E, Fathzadeh, M, Liu, W, Faramarzi,S, Subrahmanyan, L, Go, GW, McKenna, W and Mani, Rare nonconservative LRP6 mutations are associated with metabolic syndrome. Human Mutation, 2013 PMID: 23703864