Protecting the Vulnerable
James R. Ramsey, PhD
President, University of Louisville
January 15, 2009

Over the last few decades, scientists have made great strides in pinpointing factors that contribute to birth defects, leading to some of the biggest public health successes of the 20th century. For example, fortifying foods with folic acid helps prevent neural tube defects and raising awareness about the negative effects of smoking and alcohol use by pregnant women has helped reduce the number of babies born with birth defects.

Despite these gains, the number of children born with birth defects in the United State is still far too high. Almost one in every 33 babies born this year in our country will have a birth defect. Birth defects are the leading cause of all infant deaths—accounting for more than one-fifth of the total. Children born with birth defects have a significantly greater chance of illness and long-term disability over the course of their lives.

Research has helped save lives, and more research into birth defects prevention, diagnosis, and treatment is sorely needed if our children are going to grow into healthy, productive adults. We still don’t know what causes nearly 70 percent of birth defects.

At the University of Louisville (UofL), our birth defects researchers are working to address significant unanswered questions about why, how, and when birth defects take place. Founded in 2000, the UofL Birth Defects Center is a collaborative effort of more than 30 researchers and physicians from multiple departments in the UofL Schools of Medicine, Dentistry, Nursing, and Arts and Sciences. In 2008, our team received $11.8 million in National Institutes of Health (NIH) funding to advance this work over the next five years.

Robert Greene, PhD, our Birth Defects Center director, received $1.5 million to study mutations in genes that may predispose babies to spina bifida and other neural tube defects, which cause death and disability in too many children.

His team received $10.3 million as an NIH Center of Biomedical Research Excellence. Under this grant, researchers will try to better understand the role that folic acid plays in neural tube defects so that prevention strategies can be refined. They will also look at how the spinal cord develops and how neural crest cells develop into sensory nerve cells that are critical for processes ranging from vision to digestion.

While smoking rates for pregnant women have dropped, we know that approximately 25 percent of all U.S. pregnancies occur in women who smoke. We know that smoking causes low birth weight, among other problems, and studies suggest that even normal weight infants born to mothers who smoke may have impaired cognitive development. Work at UofL is ongoing to understand how smoking during pregnancy affects specific cognitive functions and how exposure to cigarette smoke alters the development of cognition—key factors in school success and long-term achievement.

Another project under this grant will look at the biochemical causes of infertility, which affects more than 2.5 million women in the United States and imposes a tremendous financial and emotional burden on infertile couples.

Finally, this grant will fund research to determine when surgical repair of craniofacial birth defects—such as cleft palate and cleft lip—will have the best outcomes for speech and language development, which may have a significant impact on how these children are treated and on their long-term speech and language skills.

While this is a small part of the birth defects research going on at universities across the nation, we are proud of the outstanding science that scientists, doctors, and dentists are producing at our Birth Defects Center. Their achievements help further the university’s efforts to integrate basic and translational research with the needs of our community, state, and the nation. We hope that, by helping protect the most vulnerable members of our society, we contribute to improved quality of life for everyone.