In addition to taking care of pediatric patients with heart disease, Dr. Grossfeld conducts groundbreaking research into the genetic causes of congenital heart disease, particularly Jacobsen Syndrome, a rare genetic disorder caused by the loss of a part of the 11th human chromosome. The loss of this genetic material causes a number of significant problems that occur commonly in the general population, including heart defects, a congenital bleeding disorder, intellectual disability, autism, and immunodeficiency. Dr. Grossfeld saw his first patient with Jacobsen syndrome during his first month of cardiology training at UCSD, and has gone on to become the world’s leading expert on JS.
Although Jacobsen syndrome is very rare, occurring in only about 1 in 50,000 live births, the insights gained from research on Jacobsen syndrome will help those in the general population that have these same problems. Dr. Grossfeld has assembled a multi-disciplinary team that has led to lifesaving and life-changing therapies for other problems that occur in JS.