2011 M. Irené Ferrer Awardee, Columbia University

Dr. Jonathan T. Lu, Assistant Professor of Medicine, is looking at the characteristics of heart cells that come from women who have an electrical abnormality in their hearts. Disturbances in their cardiac rhythm can cause them to faint and can even be fatal. These women have a specific mutation in one of their genes that men also have, but men have no disturbance in the electrical system that produces the heartbeat and are not symptomatic. To examine this fascinating difference between the sexes, Dr. Lu has grown cardiac cells from humans with this disorder and is looking at the electrical characteristics of these cells. He has collaborated with a visiting medical student from Linkoping University in Sweden, Sofia Staf, to see whether sex hormones had an effect on the characteristics of these cells. Estrogen had no apparent impact on the genes expressed by the cultured myocytes. The next step is to see if testosterone modifies the characteristics of the cells. We are particularly pleased to meet Ms. Staf, who hopes to return to continue her work with Dr. Lu after her medical school education in Sweden.
Awarded: $60,000
What was Doctor Jonathan T. Lu studying?
Doctor Lu studied the genetic abnormalities that produce heart disease.
Why study genetic abnormalities?
Almost 30-50% of the risk for heart disease is caused by genetic factors, which in turn interact with environmental and lifestyle elements.
What Dr. Jonathan Lu find?
Doctor Lu studied the specific gene mutations responsible for a specific disorder of the electrical activity of the heart which is one of the leading causes of sudden death in young people. His studies helped identify more effective treatments for cardiac disease based on identifying the specific gene abnormality that caused the illness.
How did The Foundation for Gender-Specific Medicine’s grant help Dr. Lu’s research?
Doctor Lu investigated a genetic mutation that causes abnormal cardiac rhythm in women but not in men; he collaborated with a medical student from Linkoping University in Sweden to see if specific sex hormones influenced the electrical characteristics of cells from hearts with the genetic abnormality.