About The Birth Defects Center The University of Louisville Birth Defects Center is a collaborative effort of more than 30 researchers and physicians from multiple departments in the Schools of Medicine, Dentistry, Nursing and Arts and Sciences. Established in 2000, the Center's overall mission is to improve the diagnosis, treatment and prevention of birth defects. One of the specific research efforts in the Center focuses on the identification of genes responsible for craniofacial anomalies such as cleft palate. A rationale for identifying such genetic culprits is to be able to test for the presence or absence of genes that would predispose women of child-bearing age to the risk of giving birth to a child with a particular type of birth defect. Dr. Larry Cook, Chair of the Department of Pediatrics at the School of Medicine at U of L, has said that "we've established very elaborate care teams, facilities and programs to deal with birth defects. But it would be more productive and exciting to be able to actually prevent their occurrence than to engage in their treatment once they've occurred." 70% OF BIRTH DEFECTS ARE OF UNKNOWN ETIOLOGY Universities are looked upon not only as places for reflection and contemplation but also as environments in which solutions for society's problems may be found. Birth defects are the single leading cause of infant mortality, directly responsible for one out of every five infant deaths. Although improvements in the care of affected individuals may reduce infant mortality, many who do survive face a lifetime of debilitating morbidity. While genetic factors account for about 20% of congenital defects, the potential reproductive hazards of environmental pollutants, pharmaceutical agents and substance abuse have yet to be clearly established. Despite ongoing research, the causes of about 70 percent of birth defects are unknown! Thus, a critical challenge for biomedical research ..... a challenge the University of Louisville Birth Defects Center seeks to address through research ..... is to enable prenatal molecular diagnosis of maternal genetic susceptibility to potential fetal hazards such as exposure to tobacco, alcohol and certain medications, as well as enable post-conception diagnosis of existing embryonic defects. EVERY 3 MINUTES A CHILD IS BORN WITH A BIRTH DEFECT One must certainly be amazed at Nature's handiwork. Despite the molecular complexities involved, most babies that are born, are normal! This country can boast of the highest quality health care system in the world. Despite this, a quarter of a million babies ..... 3% of all infants born in the United States each year ..... have some mental or physical defect that is evident at birth. If those defects detected later in life are included, the number increases to 7%. The magnitude of this health care issue is indeed staggering. Of the approximately 11,000 babies born every day in this country, over 400 are born with a congenital anomaly! Thus, every three minutes, a child is born with a birth defect! In the state of Kentucky alone, over 2,100 babies are born each year with some kind of malformation. Nearly 1/4 of all infant deaths in Kentucky ..... over 100 per year ..... are caused by congenital anomalies......one of the highest rates in the nation. In Kentucky, birth defects are the leading cause of infant mortality. This means that more babies die because of complications due to birth defects than from all other causes. Despite these alarming statistics, there is room for hope. Infant deaths due to birth defects have been cut in half since 1960. More and more babies' lives are being saved because of advanced technologies such as specialized neonatal intensive care units; better management of maternal medical conditions, such as diabetes, existing before and during pregnancy; increased focus on good nutrition; widespread immunization against infections, such as rubella, that can harm an unborn baby; and new prenatal treatments such as fetal surgery. DETERMINING THE GENETIC ETIOLOGY OF BIRTH DEFECTS In the past 5 years alone, several hundred genes have been identified that, when mutated, cause abnormal formation of the hard and soft tissue of the craniofacial region (skull, maxilla, mandible, teeth, salivary glands etc.). These mutated genes not only affect development of the craniofacial region, but also affect development of other body regions such as the heart, kidneys and brain. With over 200 described craniofacial syndromes, remarkable progress has been made in recent years with regard to identifying genetic culprits responsible for various craniofacial disorders. Genes responsible for these disorders either have been mapped to a chromosome or have been actually isolated and identified in over 50 syndromes. Nevertheless, for the vast majority of birth defects, the etiology is unknown.Technology is driving biomedical research into directions that require larger laboratory groups. The establishment of the Birth Defects Center at the University of Louisville serves to harness and focus the diverse expertise extant at the University and will form a foundation from which to focus on problems of congenital malformations. The broad objectives of the center include: 1) conduct of fundamental research on genetic and developmental aspects of acquired congenital malformations and the facilitation of new scientific initiatives, via potentiation of intra- and extra-mural scientific dialogues, toward that end and 2) providing opportunities that encourage young, as well as established, investigators to acquire training (graduate, postdoctoral, residency etc.) in this increasingly important area. Robert M. Greene, Ph.D. Director, University of Louisville Birth Defects Center Professor and Chair, Department of Molecular, Cellular and Craniofacial Biology Associate, Department of Pediatrics