Advance Children's Congenital Heart Disease Research

Advance Children's Congenital Heart Disease Research

About Our Campaign

Cardiologist Paul Grossfeld, MD, has dedicated his career to studying the genetic causes of, and improving medical outcomes for children born with congenital heart disease and other rare diseases. His innovative lab within the Department of Pediatrics at UC San Diego School of Medicine is the only one of its kind examining the unique link between congenital heart disease and Jacobsen syndrome, also known as 11q terminal deletion disorder.

Dr. Grossfeld and his team of physician-scientists continue to make significant breakthroughs in this field including: 

  • Beginning to identify the critical signaling pathways regulated by the ETS-1 gene, with the ultimate goal of developing gene-based strategies for the prevention of congenital heart defects.Dr. Grossfeld’s lab previously discovered that the loss of this gene causes congenital heart defects in patients with Jacobsen syndrome.

  • Gaining unprecedented insights into how the loss of the ETS-1 gene causes hypoplastic left heart syndrome (HLHS), one of the most severe forms of congenital heart disease. Preliminary observations — in collaboration with Shuyi Nie, PhD, at the Georgia Institute of Technology — indicate it may be possible to prevent HLHS, if identified early in pregnancy. Dr. Grossfeld’s lab is focused on identifying the specific signaling pathways critical for normal heart development, which are perturbed in the absence of ETS-1 that leads to HLHS. Their most recent findings suggest a completely new paradigm for the mechanisms underlying HLHS, which is leading to new areas of investigation never before possible. The results of these studies have enormous potential to impact not only people with Jacobsen syndrome, but also the general population of people with HLHS and other related defects.

Our targeted campaign goal is $200,000, the amount needed to further this leading-edge research into the future. Funding this critical research will allow Dr. Grossfeld and his team to expand their efforts, allowing them to learn more about the underlying mechanisms of HLHS and other related congenital heart defects. Currently, HLHS is the most frequent cause of death in infants born with congenital heart defects, and the annual cost of care in the United States exceeds $1 billion. Up until now, the idea of preventing HLHS was only a dream. Through your support, preventing HLHS can now become a reality.


Next Steps: Upcoming Clinical Trials and Pilot Studies

In addition to their work on congenital heart disease, Dr. Grossfeld and his collaborators across the globe have made exciting progress in related cognitive and behavioral research. Upcoming clinical trials and pilot studies include the following:

  • Current preparations to treat a subset of patients with Jacobsen syndrome and severe intellectual disabilities with a drug commonly used for narcolepsy, based on the function of the BSX-1 gene that Dr. Grossfeld and his team have identified. This groundbreaking, gene-based therapy, will be conducted in collaboration with former UC San Diego postdoctoral fellow Mathias Treier, PhD, now at the in Berlin, Germany.

  • Testing a commonly used antianxiety drug in patients with Jacobsen syndrome and autism who lack the RICS gene. Collaborative research with scientists in Tokyo has demonstrated that treatment with this drug in mice lacking the RICS can cure the autistic features.

  • A pilot study to determine if a commonly used antidepressant medication can help patients with Jacobsen syndrome and severe intellectual disabilities.

For published data regarding Dr. Grossfeld’s ongoing research, please click here:

For more information about Dr. Paul Grossfeld and his lab, visit

Thank you for learning more about Dr. Grossfeld’s important research and for giving what you can to help support his lab.

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