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How many rare diseases are genetic?

Published in Rare Genetic Diseases 1 min read

Approximately 72% of rare diseases are genetic in origin.

According to research, of the more than 6,800 identified rare diseases, a significant portion have a genetic basis. This means the diseases are caused by changes in a gene or a group of genes.

Here's a breakdown:

  • Prevalence of Genetic Rare Diseases: 72% of rare diseases are genetic.

  • Origin in Childhood: About 70% of rare genetic disorders begin in childhood.

  • Cause: These genetic disorders stem from alterations in a gene or group of genes.

  • Present From Birth: Genetic disorders are present from birth.

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