Preventing and treating birth defects

Each year in the United States, more than 120,000 babies are born with a birth defect. They are the leading cause of infant deaths. There are thousands of different birth defects, affecting the structure or function of every part of the human body. The March of Dimes provides grants to researchers, with the goal of understanding the causes of birth defects and developing new ways to prevent and treat them. Currently, about 70 percent of the causes of birth defects are unknown.

The processes of development

Some March of Dimes grantees are studying basic biological processes of development. This important research should improve our understanding of how genes and other factors direct the transformation from a single cell into a complete being. A more advanced look at the process of development will help reveal what can go wrong along the way. Others are conducting clinical studies aimed at finding ways to prevent or treat specific birth defects.

Genetic causes

Genetics has long been a main theme of March of Dimes research. Grantees have discovered genes that cause or contribute to a number of common birth defects, including fragile X syndrome, cleft lip and palate, and heart defects. These discoveries pave the way for treatments and preventions for these birth defects.

Sample birth defects research grants

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.