Greetings from Rare Genomics Institute!

Dear friends and supporters,

We hope you're having a wonderful summer. In this edition, we're sharing new articles exploring important topics in rare disease research and advocacy, along with a fun trivia quiz to test your rare disease knowledge.

At Rare Genomics Institute, our mission continues every day as we work to support families, advance research, and bring hope to those affected by rare diseases. None of this would be possible without the generosity of supporters like you.

Thank you for being part of our community. We invite you to explore this month's stories and consider making a gift to help us continue creating meaningful change for rare disease families around the world.

Put Your Rare Disease Knowledge to the Test

Feeling curious? Try our short quiz to test your knowledge of rare diseases — share it with friends to see how they do and help raise awareness.

1. What percentage of rare diseases are estimated to have a genetic origin?

a. Approximately 40%

b. Approximately 55%

c. Approximately 72%

d. Approximately 90%

2. Approximately what percentage of rare disease patients are children?

a. 25%

b. 50%

c. 75%

d. 90%

3. What does the term "orphan drug" refer to?

a. A drug that has been discontinued by its manufacturer

b. A drug that is only available in developing countries

c. A drug that has lost its patent protection

d. A drug developed to treat a rare disease or condition

Scroll to the end to see the answers. Want to learn more about rare diseases? Click here for more facts about rare diseases!

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The Team at Rare Genomics Institute

Trivia Answer Key: 

1. c: The commonly cited figure of "80% of rare diseases have a
genetic origin" has been widely referenced in the literature, but a
more rigorous analysis of the Orphanet database found that 71.9% of
the 6,172 catalogued rare diseases are genetic.
2. b: Approximately 50% of rare disease patients are children. This is
consistent with the finding that 69.9% of rare diseases are
exclusively of pediatric onset, meaning the majority of rare diseases
first manifest in childhood.
3. d: The Orphan Drug Act of 1983 in the United States was a landmark
piece of legislation that provided financial incentives for
pharmaceutical companies to develop treatments for diseases affecting
fewer than 200,000 people in the U.S.