Aug 10, 2020 - 23andMe Research Communities

23andMe to Study Idiopathic Pulmonary Fibrosis

23andMe recently launched a genetic study of Idiopathic Pulmonary Fibrosis (IPF), a rare disease that results in scarring of the lungs and for which there is currently no cure.

Studying the Genetics of IPF

The hope is that this study will help generate genetic information offering new insight and potential treatments. This disease itself is particularly insidious. It results in scarring of the lungs (fibrosis), which in turn increasingly hampers the ability of the lungs to transport oxygen to other organs. This makes it difficult for those suffering from the disease to catch a breath.

This is the first genetic study 23andMe researchers have undertaken on a 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 likely plays an important role in why some people develop IPF, and this is where the 23andMe research model could help. Through our study, people living with IPF can provide genetic information and invaluable insight that can bring us closer to future treatment discovery.

Eligibility

For 23andMe’s Idiopathic Pulmonary Fibrosis research our goal is to enroll 1,000 individuals with IPF. To participate in this study you must:

  • Have been diagnosed with IPF or Hermansky-Pudlak syndrome (HPS)*
  • Are 18+ years old
  • Live in the US

If you or someone you know is interested in learning about 23andMe’s study, click here.

*We are including participants with Hermansky-Pudlak syndrome in this study because the pulmonary fibrosis that can develop in these individuals is very similar to IPF. If a new treatment for IPF is developed as a result of this research, this treatment may also help individuals with Hermansky-Pudlak Syndrome.

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