Genetic Disorders

There are many different organizations and resources available to help families learn more about genetic disorders. Listed below are a list of organizations and common genetic disorders in the United States.

What is a genetic disorder?


A genetic disorder is a medical condition that is caused by a change in a gene or chromosome of an individual. There are more than 6,000 known genetic disorders. There are several genetic disorders that are commonly screened for in the United States. You can find more information on genetic disorders from the following organizations/websites.

Resources


Genetic and Rare Diseases (GARD) Information Center

GARD knows that understanding medical terms and technology related to a genetic disorder can be difficult. The Center has developed a glossary of medical terms to help patients and their families understand the language used.

Genetics Visit FAQs

This handout provides answers to frequently asked questions about a genetics visit and what to expect.   Genetics Visit FAQ in English  Genetics Visit FAQ in Spanish 

How Policy Impacts Rare Disease (SERN/SERGG 2022)

Overview of the Rare Disease Advisory Council (RDAC) and how families can get involved in their state’s organization. Find Your State’s RDAC

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