In this section
About medical genetics
Genetics is the branch of medicine concerned with how hereditary and genetic factors play a role in causing a disease, birth defect, or inherited susceptibility to a health problem.
According to a study published by the American Society of Human Genetics, approximately one third of all pediatric hospitalizations are due to genetic disorders. Genetic disease knows no boundaries by age, sex, race, or country of origin. Everyone is at risk for being born with a birth defect. Most birth defects are not under our control, and are not caused by an action or inaction on the parents' part either before or during the pregnancy. Even with normal prenatal diagnosis such as an amniocentesis, there is still a 2 to 3 percent chance that a child will be born with some type of birth defect or health problem.
The Human Genome Project began in 1990 with the goal of mapping the location of all of the genes on the chromosomes. This monumental achievement will give scientists the building blocks to determine how diseases are caused and hopefully, how to treat them and, ultimately, prevent them.This Web module is intended to provide an overview of genetic mechanisms that can result in disease. Common examples of genetic conditions have been included for example, but are not meant to be comprehensive. The point is to understand how genetics impacts the health of our children.
- Overview of birth defects
- Chromosome Abnormalities
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- Genetic Services: When, Where, How
- Identification, Treatment and Prevention of Birth Defects
- Multifactorial Inheritance
- Neurocutaneous Syndromes
- Neurofibromatosis and related disorders
- Non-Traditional Inheritance
- RASopathy disorders
- Single Gene Defects
- Tuberous sclerosis
- Uses of Genetic Testing