Asim Beg, PhD, University of Michigan at Ann Arbor, is studying the causes of a form of cerebral palsy called hemiplegic cerebral palsy, which affects movement more severely on one side of the body than the other. The ultimate goal is to develop a drug treatment to prevent or treat hemiplegic cerebral palsy.
Paul Ryland Brakeman, MD, PhD, University of California at San Francisco, is examining the role of a gene in the development of the urinary tract, for insight into the causes of urinary tract defects. Urinary tract defects affect more than 1 in 100 children and are a leading cause of kidney failure in children.
Ricardo Feldman, PhD, University of Maryland School of Medicine in Baltimore, is seeking to develop a novel drug treatment that can prevent brain damage in forms of Gaucher disease that affect the brain. Gaucher disease is an inherited disorder of body chemistry that leads to a build-up of fatty substances in various organs, sometimes including the brain. Currently available enzyme replacement treatment does not reach the brain.
Daniel Richard Foltz, PhD, University of Virginia in Charlottesville, is studying the development of the centromere, the region of a chromosome that directs the orderly pairing and separation of chromosomes during cell division. Malfunctioning of the centromere can result in egg or sperm cells with too many or too few chromosomes, resulting in a baby with Down syndrome or other chromosomal birth defects.
Lisa V. Goodrich, PhD, Harvard Medical School in Cambridge, Mass., is studying the role of a gene in regulating the development of specific nerve cells in the inner ear, which are often abnormal in children with congenital hearing impairment. This could lead to improved treatment of hearing impairment, which affects about 3 in 1,000 children.
Brian Harfe, PhD, University of Florida College of Medicine in Gainesville, is studying the role of specific genes in normal and abnormal limb development. Limb defects are common birth defects, but their causes are poorly understood. Understanding the causes of limb defects would be an important step toward learning to prevent them.
Robert Ho, PhD, University of Chicago, is seeking to determine the role of a gene in guiding the migration of immature nerve cells to their proper locations in a region of the brain called the cerebellum, for insight into how abnormalities in this gene may contribute to autism spectrum disorders (ASDs). ASDs are a group of disorders affecting speech, social skills and behavior that affect about 1 in 150 children.
Soo-Kyung Lee, PhD, Baylor College of Medicine in Houston, Texas, is seeking to determine the role of a gene in development of the central nervous system, for insight into how abnormalities of this gene may contribute to neural tube defects, such as spina bifida (open spine) and anencephaly (a fatal brain defect).
Melissa M. Rolls, PhD, Pennsylvania State University in University Park, is studying nerve cell structures called dendrites, which may be abnormal in most forms of mental retardation, including fragile X and Down syndromes. This research could be a step toward developing a treatment for an underlying cause of mental retardation, which affects 1 to 3 percent of the population.
Stephanie M. Ware, MD, PhD, Cincinnati Children’s Hospital, is seeking to identify novel genes that cause or increase susceptibility to congenital heart defects, in order to improve their diagnosis and treatment. Heart defects are among the most common birth defects, occurring in almost 1 percent of babies, and in most cases, the cause is unknown.
Most birth defects cannot be prevented because their causes are not known. However, women can take a number of steps before and during pregnancy to reduce their risk [link to Birth Defects fact sheet]. These steps include taking a multivitamin containing 400 micrograms of folic acid daily starting before pregnancy and in early pregnancy. This helps to prevent serious birth defects of the brain and spinal cord, including spina bifida, and may also help prevent heart defects.
Congenital heart defects are among the most common birth defects, affecting nearly 1 out of 100 babies in the United States. Some heart defects are mild, while others can be life-threatening. Other common birth defects include cleft lip/palate, Down syndrome and spina bifida (open spine), affecting about 1 in 700, 1 in 800 and 1 in 2,500 babies respectively.
Environmental substances that can contribute to birth defects include alcohol, certain drugs/medications and infections. Women who drink heavily during pregnancy are at risk of having a baby with a pattern of mental and physical birth defects called fetal alcohol syndrome. Because even moderate or light drinking may harm a baby, women who are pregnant or planning pregnancy should not drink any alcohol. They also should avoid illegal drugs such as cocaine and Ecstasy, and ask their health care provider about the safety of any prescription and over-the-counter medications they take. Women also can take steps to help prevent certain infections such as toxoplasmosis and cytomegalovirus that can cause birth defects.