Resources

Genetics 101

Oftentimes, our programs use genetic terms that may be unfamiliar to you. Below are resources we like to share with patients to aid them in understanding what these certain terms mean.

Knowledge Pearls Database

https://ckm.vumc.org/ckm/gl/pearls/genome.html

NHGRI Talking Glossary of Genetic Terms (In English and Spanish)

https://www.genome.gov/genetics-glossary

NIH National Library of Medicine – Help Me Understand Genetics

https://medlineplus.gov/genetics/understanding/

Genetic Testing for Rare and Undiagnosed Diseases

Genetic Testing for Rare and Undiagnosed Diseases - National Organization for Rare Disorders (rarediseases.org)

Other Helpful Links

Below is a list of links that may be helpful to you regarding additional resources, programs, and information. We regularly share these resources with current and prospective patients who are dealing with rare and undiagnosed disorders.

Clinicaltrials.gov (disease/gene specific research opportunities)
Home - NORD (National Organization for Rare Disorders) (rarediseases.org)
Home - Genetic and Rare Diseases Information Center (nih.gov)
RareConnect
Allies in Rare Disease - Global Genes
EveryLife Foundation for Rare Diseases