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Glossary

Glossary

As the GREGoR Consortium website grows, we will add key terms and definitions to this glossary. If you encounter a word you’re curious about, please check here for more information!

Diagnostic odyssey - the time between onset of a condition in an individual and a confirmed diagnosis in an individual with a rare disease.

Gene discovery - the process of identifying the gene or genes responsible for a particular condition.

Mendelian disease - any condition which shows Mendelian inheritance. This means a condition which is caused by variants in a single gene. Inheritance patterns of Mendelian disease are autosomal dominant, autosomal recessive, or X-linked. 1

Rare disease - a condition that affects fewer than 200,000 people in the US. There may be as many as 7,000 rare diseases. The total number of Americans living with a rare disease is estimated at between 25-30 million. Rare diseases currently affect 3.5% - 5.9% of the worldwide population. It is estimated that 72% of rare diseases have a genetic cause. 2,3

 

Sources:

  1. https://www.genome.gov/genetics-glossary/Mendelian-Inheritance 
  2. https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases
  3. https://www.rarediseaseday.org/article/what-is-a-rare-disease