Genetics Home Reference

Your Guide to Understanding Genetic Conditions

What information is in Genetics Home Reference?

• Genetic Condition Summaries - Each summary describes the major features of a particular health condition, provides information about the condition's genetic basis, and explains its pattern of inheritance. The summaries also link to support organizations and additional information about the condition.
• Gene Summaries - Each summary provides the official name and symbol of a gene, its chromosomal location, an explanation of its normal function, and the health implications of variations in the gene. Each gene summary links to more detailed information about the gene.
• Chromosome Summaries and mitochondrial DNA (mtDNA) - Chromosome summaries provide an estimate of the amount of DNA and number of genes for each chromosome. Each summary also provides information on how changes in the number or structure of the chromosome can lead to certain disorders. A separate summary describes mtDNA and its associated health conditions.

• Help Me Understand Genetics - This primer on human genetics provides an illustrated, basic explanation of how genes work and how mutations cause disorders. It also includes information about genetic inheritance, gene families, the genetics of normal human traits, genetic testing (including newborn screening), gene therapy, genomics research, and precision medicine.