Identifying the Causes of Birth Defects

Birth defects are health problems such as malformations or abnormal structures that are present at birth. They result from problems arising during pregnancy. They can affect the shape or function of any part of the body, and whether they affect the heart, limbs, eyes or head and face, they are devastating in their long-term medical, emotional and socioeconomic impact. According to the March of Dimes, birth defects affect 120,000 newborn babies in the US each year. Regardless of the cause, whether it be a genetic disorder, maternal infection, or alcohol and drugs, every birth defect results from a disturbance of the normal process by which a healthy baby develops in the womb.  However, this is not a process that is very well understood, because it is incredibly complex, rapid, and hidden from view. Biologists in BME have been using genetic engineering of mice, which are a commonly used model for human embryo development, as well as genetic analysis of naturally occurring human defects to improve our understanding of normal development and birth defects. They generate and study models for several human birth defects, including cleft palate, webbed fingers, congenital blindness, holes in the heart, brain or neural tube defects and genetic disorders of connective tissue.

Summary:  The Apte laboratory studies the process of normal embryo development and asks what goes wrong in several common birth defects and inherited (genetic) disorders.

See also: Apte Lab