Rare Diseases Information Toolkit

The Undiagnosed Diseases Network (UDN) is a research study to improve the level of diagnosis of rare and undiagnosed conditions.

This page explains what it means to be undiagnosed and what steps you can take towards finding a diagnosis.

Directory of rare disease centers of excellence.

A toolkit for families who have someone living with a condition but without a diagnosis.

RUN is a group that advocates bringing genome sequencing into clinical practice. Genome sequencing is a process that can help identify inherited disorders.

Information for parents whose children have symptoms of genetic conditions but can’t yet be diagnosed.

This site helps families on their health care journey of being undiagnosed or having a rare disease.

This NIH organization seeks to provide answers for patients and families affected by mysterious conditions.

This site aims to improve access to diagnosis, research, and care for individuals with undiagnosed and ultra-rare (affect less than 1 in 50,000 people) conditions.

A resource that provides information on health during the various stages of pregnancy, from planning to infant care.

This site provides information on genetics and testing as they relate to rare diseases.

This page breaks down the topic of genetics, from cells and DNA, to genomic research, to genetic testing.

"Explore the normal functions of human genes and the health implications of genetic changes."

Use this tool to find genetic counseling services by provider name, area of practice, organization, or location. (Because ABGC Diplomates may choose not to be included in the directory, it is not a complete list of all Certified Genetic Counselors).

Use this directory to find a genetic counselor, whether you want to meet one in-person or virtually.

Use this map to find genetic clinics in the U.S.