23andMe Launches Sarcoidosis Study

Diseases are considered rare if they affect fewer than 200,000 in the United States, but collectively rare diseases — there are nearly 7,000 — are more common than we realize, affecting about 25 million Americans and more than 300 million people worldwide.

Because these are rare conditions finding enough research participants to study these conditions can make studying them immensely challenging for scientists. But the 23andMe research model is uniquely suited to study rare diseases. We’ve launched a series of studies on rare diseases like systemic sclerosis, and idiopathic pulmonary fibrosis (IPF). Earlier this month we added one more to the list with a new study of sarcoidosis. April also happens to be Sarcoidosis Month, and April 30th is National Sarcoidosis Day in the United States.

So, take a moment to learn a bit more about this little-known condition.

An Inflammatory Disease

Sarcoidosis (pronounced SAR-COY-DOE-SIS), is an inflammatory disease that mostly affects the lungs in people with the condition but can affect any organs in the body.

The disease leads to the clumping together of inflammatory cells in different organs, which in turn can lead to scarring and organ dysfunction. While it impacts both men and women, and people of any ethnicity or age, it disproportionately affects people of African ancestry, particularly women, and people of Northern European ancestry.

Early symptoms may include fatigue, swollen lymph nodes or painful swelling of the joints. Because it often affects the lungs, sarcoidosis symptoms may also include shortness of breath, wheezing, a persistent cough or chest pain. When it affects the heart, the condition may result in irregular heart beat, or accelerated heart beat, or swelling of the heart, known as edema. It can also affect the eyes resulting in blurred vision,

There currently is no cure and few approved treatments.

Searching for Treatments

With the goal of identifying potential new treatments for sarcoidosis, 23andMe’s study will look at genetic associations in what we hope will be the world’s largest study of this disease in African Americans. Our efforts will involve recruiting people with the condition to participate in our research, and ensuring that people of African ancestry are well-represented in the research. This is to ensure that any new potential treatments are effective for underrepresented populations.

In general, studying rare diseases is a challenge because patients are hard to find and recruit in large numbers. Simply finding enough people with one of these conditions who can participate is often the first hurdle for researchers, but 23andMe is uniquely positioned to do this work. We believe that by leveraging online tools and reaching out to individuals diagnosed with sarcoidosis we can accelerate the pace of research into this condition.

Just as with most other rare diseases, there is a strong genetic component to sarcoidosis, but many of the genetic variants associated with the condition have not yet been identified. 

More

Learn more about 23andMe’s sarcoidosis study here.

Questions about the study? Contact us at [email protected].