Did You Know? It’s Not so Rare to Have a Rare Disease

Rare Disease Day logoToday, February 29, is Rare Disease Day — a concept first initiated by the European Rare Disease Organization (EURORDIS) and now recognized around the world.

Join the Global Genes Project™ and help unite one million people for rare diseases. The Global Genes Project™ is a campaign that works to help individuals and organizations participate in this annual day of recognition for rare diseases. Getting involved can be as simple as putting on a pair of genes (ahem jeans) — because 80% of rare diseases have a genetic origin — or as involved as organizing a local Denim & Genes event. Visit their website, blog or join them on Facebook to get involved.

When we think about diseases we often describe them as either common or rare. Common conditions — like heart disease and obesity — are complex in nature, meaning that they are influenced by both genetics and environment. Conversely, most rare diseases are strongly influenced by genetics and less so by environment. We hear a lot about common conditions because so many people have them and in contrast relatively little about rare diseases. But how rare is rare?

In the United States, a disease is defined as “rare” if it affects fewer than 200,000 individuals, or roughly one in 1500. Rare diseases are often poorly understood, with symptoms that can be difficult to diagnose, and can be life-threatening. Around 6,800 rare diseases have been identified and the large majority of them — up to 80% — are thought to have a genetic origin. Most rare diseases can’t be cured and many lack effective treatments because research on rare conditions is often hampered by a scarcity of study participants and poor funding.

If you add up all the rare diseases it turns out that about 30 million Americans suffer from a rare disease. That’s nearly 10% of the population — suddenly rare is not so rare! You’ve likely heard of at least some of these conditions and 23andMe provides health reports for many of them, from cystic fibrosis to sickle cell anemia.

23andMe believes that our innovative research model can make a difference in rare disease. We’ve launched research initiatives for two rare diseases so far — myeloproliferative neoplasms (MPNs) and sarcoma — to better understand their causes and to help bring about treatments. We are currently enrolling participants in both studies, so join our cause if you suffer from one of these disorders or know of someone who does. By participating in the MPN or sarcoma initiatives at 23andMe you can take research into your own hands and help make at least one rare disease better understood.
Help us reach 800 sarcoma participants and 500 MPN participants this week!

Join the 23andMe sarcoma and myeloproliferative neoplasms (MPN) initiatives.
If you’ve been diagnosed with sarcoma or a myeloproliferative disease such as myelofibrosis, essential thrombocythemia, polycythemia vera, chronic myelogenous leukemia, mastocytosis, or hypereosinophilic syndrome (HES) and related eosinophil disorders, take an active role in research that may benefit you and others living with these diagnoses. 23andMe also has a research community for Parkinson’s disease. Your DNA can help lead to a cure!
(Individuals who qualify for these studies also gain complimentary access to the 23andMe Personal Genome Service.)

Did you know? provides tidbits of information about genetics (both in humans and in other animals) and explains how DNA relates to both ancestry and health.


  • Linda Stevens

    Please consider devoting a research initiative to pulmonary fibrosis. I have seen two 23andme press releases over the past few years about efforts to study this debilitating disease, but am unaware of any current work in this area (at least, when I sent a message to help@23andme, I was told it was not a current initiative).

    http://www.genomeweb.com/dxpgx/23andme-mondobiotech-collaborate-study-genetic-risk-rare-diseases

    • http://23andme.com Shwu

      Hi Linda,

      Unfortunately we do not currently have a research initiative for pulmonary fibrosis but our researchers are constantly adding new topics to study. A full research initiative takes many months and resources to develop but we also do “mini-studies” by analyzing genetic data and answers to hundreds of survey questions from our customers. We welcome you to suggest pulmonary fibrosis as a research question — if you have an account, please visit https://www.23andme.com/you/23andwe/questions/ and click on “Suggest your question topic to our research team.”

  • Genevieve Harbowy

    My husband, Roy Harbowy has Multiple Myeloma. Are you studying it?

    • http://23andme.com Shwu

      Hi Genevieve,

      We are not currently studying multiple myeloma. If you have an account at 23andMe you can suggest this as a research question using the suggestion link on this page: https://www.23andme.com/you/23andwe/questions/

      If you don’t have an account, you can also file a request by contacting us at help@23andme.com. We hope to be able to study many more diseases in the future!

  • SunnyD

    I’m going to be testing for mastocytosis at doc’s office in near future. I already have an account with you. If I’m positive, should I let you know to be included in this special study?

    • http://23andme.com Shwu

      Hi SunnyD,

      We’re sorry to hear about your health troubles and wish you good news from your doctor. If the tests do come back positive however, we welcome you to participate in the MPN research initiative, which you can do as an existing customer. Simply email mpn-help@23andme.com with your request and we should be able to set it up. Thank you for your interest in helping rare disease research!

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