23andMe recently launched a genetic study of systemic sclerosis, a rare autoimmune disease that results in the hardening and thickening of the skin and other organs, for which there is currently no cure or effective treatments. 
Studying the Genetics of Systemic Sclerosis
The hope is that this study will generate genetic information, offering new insight and potential treatments. Systemic sclerosis is a severe subtype of scleroderma that results in fibrosis of the skin and internal organs, such as the stomach, intestines, lungs, heart, and kidneys.
Rare Disease
A disease is deemed “rare” if it affects fewer than 200,000 people in the United States. Often because a rare disease affects fewer people, there is less market incentive to develop a treatment for these conditions.
While individually these conditions are uncommon, there are more than 7,000 rare diseases that have been identified, which impact an estimated 30 million people in the United States according to the NIH. Research on these conditions has been historically limited and slow.
Like many rare diseases, genetics may play an important role in why some people develop systemic sclerosis or why they experience certain symptoms.
23andMe’s Research Model
This is where the 23andMe research model could help. Because all study activities are done from home, participants can enroll from anywhere in the United States without having to visit a hospital or research center.
This enables 23andMe researchers to study systemic sclerosis at a scale that has not been possible for other researchers to date. Through this study, people living with systemic sclerosis can provide genetic information and invaluable insight that may lead researchers to a future treatment discovery.
Eligibility
For 23andMe’s Systemic Sclerosis Research Study, our goal is to enroll 1,000 individuals with systemic sclerosis. To participate in this study you must:
- Have been diagnosed with systemic sclerosis
- Are 18+ years old
- Live in the United States
If you or someone you know is interested in learning about 23andMe’s study, click here.