Thousands of children are born each year in the United States with congenital heart disease.
And while the death rates from this condition have dropped in recent years, the diagnosis can still be devastating for families, requiring several surgeries in the first year of life and uncertain chances of survival.
Cecilia Lo has dedicated her research to uncovering the causes of these genetic defects, and she will now have a new research center in Pittsburgh to advance that work.
Dr. Lo, director of the Genetics and Developmental Biology Center of the National Heart, Lung and Blood Institute, will arrive in Pittsburgh this summer to head up a new Department of Developmental Biology in the University of Pittsburgh School of Medicine. Her lab will be based at the new UPMC Children's Hospital research tower in Lawrenceville.
In a double-recruitment trend that is becoming increasingly prevalent, Pitt also is bringing in her husband, noted orthopedic stem cell researcher Rocky Tuan, who is also at the National Institutes of Health in Bethesda, Md. Dr. Tuan will head up a new Center for Cellular and Molecular Engineering in Pitt's orthopedics surgery department.
One thing that attracted Dr. Lo to Pittsburgh, she said this week, was the fact that the research tower here will contain a full floor of animal labs for the mouse studies that are a vital part of her work. In Bethesda, her animal lab is in an antiquated cinder-block building that is a 10-minute walk from her offices.
Dr. Lo can manipulate the genes of lab mice to create congenital heart defects, and is hoping to use new genetic screening equipment at Children's to determine exactly which mutations cause various heart malformations.
She is also conducting a clinical trial with children who have heart defects to see how many of them also have a genetic lung condition known as primary ciliary dyskinesia, in which the tiny hairs in the lining of the lungs don't move properly, causing repeated lung infections in the children.
The initial goal of the study is to see whether a common set of genetic mutations is linked to both problems. Eventually, it may lead to better therapies for these children, she said. Her study now involves about 50 children at the Children's National Medical Center in Washington, D.C., but will be expanded to include patients at Children's Hospital here.
The cilia-heart defect connection is also the subject of a talk Dr. Lo will give here tomorrow. She will deliver the Pitt medical school senior vice chancellor's laureate lecture at noon in Scaife Hall, Auditorium 6. The lecture is free and open to the public.
Her husband, Dr. Tuan, is an expert in stem cells that promote growth and repair of cartilage, and his work in Pittsburgh will add another layer of expertise to Pitt's work in regenerative medicine, which involves growing cells in the lab to repair different organs and body parts.
Once her department is established, Dr. Lo said, a future avenue of research will include stem cells that can be reprogrammed from mature adult cells to grow into various kinds of tissue, holding out the hope of using a patient's own cells to cure a variety of disorders.
"Obviously at this point this is all science fiction," she said, "but in theory this kind of treatment may one day be possible," and her department will be able to help figure out where stem cells come from and what biological pathways guide their differentiation into separate types of tissue.
