Riley Research: Attacking Heart Disease Gene by Gene

February 23, 2015
Topics: Heart (cardiology), Pediatric Research

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Wells Center Cardiovascular Genetics Investigator Stephanie Ware, M.D., Ph.D

Support from donors is fueling Riley research aimed at uncovering genetic causes for congenital heart defects. Stephanie Ware, M.D., Ph.D., has been recruited to help build the cardiovascular genetics program at Indiana University School of Medicine and develop a research team at Riley Hospital’s research facility, the Wells Center for Pediatric Research.

One of the genetic conditions Dr. Ware’s team is investigating is heterotaxy syndrome, a rare condition in which internal organs may form on the opposite side of the body and structural problems are usually present in the heart. Riley Hospital treats about 12 new heterotaxy patients each year. “We have large studies where we enroll patients with heterotaxy and we do genetic analyses to identify genes that might be the cause of their disease,” says Dr. Ware.

Those studies involving patients have identified about 400 potential genes that could cause heterotaxy, and Dr. Ware’s team is now testing those genes in frog embryos. “We go through those gene by gene in the lab, and we can ‘knock down’ that gene in frog models and see if it causes heterotaxy, says Dr. Ware. “If it does, that gives us good preliminary evidence that maybe this is a gene that causes heterotaxy. Once we better understand the causes, we can move a step closer to preventing heterotaxy.”

This work is especially exciting to parents like Bill and Courtney Beyers, whose 3-year-old daughter Lucy was born with heterotaxy. Lucy is doing well today, thanks to open-heart surgery that Riley surgeon Mark Turrentine, M.D., performed when she was an infant. “My husband and I are so excited to know that research for heterotaxy is being done,” says Courtney. “Research can help combat this issue and help other kids become a miracle like Lucy.”

Dr. Ware is also excited about her team’s work on cardiomyopathy, a disease of the heart muscle, using a cutting-edge technique involving induced pluripotent stem cells (iPS cells). “We can take blood cells from patients, and those cells have all their genetic information,” explains Dr. Ware. “We can then make those blood cells turn into beating heart cells, which we can use to test patient specific treatments or drug therapies.”

The price of such studies is high, and Dr. Ware is grateful for the many donors whose gifts enable her team’s work to continue. “There are so many studies we are doing right now that would never have gotten off the ground without donors,” explains Dr. Ware. 

Click here to make a donation to Riley Heart Research through the "My Heart Belongs to Riley" campaign. 

Riley Blogger

The Riley Blog is written and/or edited by members of the Riley Children's Foundation Communications Staff.

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