Talking Glossary of Genetic Terms
Congenital conditions are those present from birth. Birth defects are described as being congenital. They can be caused by a genetic mutation, an unfavorable environment in the uterus, or a combination of both factors.
So congenital is something that's really present at birth. And when we talk about congenital, some people think it's just because it's present at birth that it has to mean that it's genetics, but that's not necessarily the case. Many birth defects that are seen at birth can be genetics, but then there are lots of other reasons of having something wrong at birth of the baby, and that could be due to medications, due to things the mother took during the pregnancy that then resulted in the baby having problems that could be seen at birth.
Name: Maximilian Muenke, M.D.
Occupation: Chief and Senior Investigator, Medical Genetics Branch; Head, Human Development Section; Director, Medical Genetics Residency and Fellowship Training Programs and Combined Pediatrics and Medical Genetics Residency Training Program
Biography: Dr. Muenke's research program seeks to improve knowledge about the formation of the central nervous system and to elucidate the origin of developmental disabilities and mental retardation. Specifically, his laboratory investigates birth defects that affect normal embryonic development and lead to neurological impairment. His two major areas of focus are holoprosencephaly (HPE) and attention deficit hyperactivity disorder (ADHD). Holoprosencephaly is a common birth defect characterized by the failure of the brain to divide properly into left and right hemispheres during early development. Children born with HPE show various degrees of developmental disabilities and mental retardation.