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Human Genetics

Learn the basics of genes, chromosomes, inheritance and testing

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Updated September 17, 2008

A karyotype (chromosome test) can be done using a blood sample.

A karyotype (chromosome test) can be done using a blood sample.

Photo © A.D.A.M.
In order to understand genetic disorders, you need to know basic information about human genetics, such as what genes and chromosomes are, the ways genetic disorders are inherited and what is genetic testing. Knowing about human genetics will also help you understand what gene therapy is and how it may someday treat or prevent rare diseases.

What Are Genes, DNA and Chromosomes?

Increase your understanding of the basics of human genetics by learning about DNA, genes, chromosomes, proteins, the Human Genome project and genetic mutations.

How Genetic Disorders Are Inherited

The cause of a genetic disorder is a gene mutation (abnormal change in a gene) in every cell in the person's body. This genetic mutation can be passed from parents who have it to their children. Whether a child will develop a genetic disorder depends on the pattern of inheritance for that disorder.

What Is Genetic Testing?

Information about what genetic testing is, the different kinds of genetic tests, why people get genetic tests and where to get them.

Newborn Screening for Genetic and Metabolic Disorders

Information about screening newborn infants for genetic and metabolic disorders, including how it's done and what disorders are screened.

Jewish Genetic Testing for Rare Disorders

Some serious, often fatal genetic diseases occur more frequently in the Ashkenazi Jewish population (Jews descended from ancestors in Eastern and Central Europe) than in the general population. Many Jewish organizations offer genetic screening for rare disorders in the United States, Canada and Israel.

What Is Gene Therapy?

Gene therapy means replacing genes with corrected copies to treat genetic disorders. There are a number of problems, though, with gene therapy that need to be solved before this type of treatment becomes safe and effective.

What Is Genetic Counseling?

In order to determine whether you or a loved one is at risk for a genetic disorder, a geneticist will make the diagnosis and a genetics professional will provide counseling about what the results mean. You will receive information about the condition, such as your chances of passing it on to your children.
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