Oct 17, 2022 - Research

23andMe Adds More Conditions to Rare Disease Research Study

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Bolstered by the early success of recruitment for our Rare Disease Research Study, 23andMe has expanded its scope from four to now include twelve rare conditions.

Finding and then enrolling participants in the study of rare diseases has always been a challenge for scientists. Diseases are considered rare if they affect fewer than 200,000 people in the U.S., and with those numbers spread out across the country finding and then getting participants for research is difficult. Even when the studies move forward, they often include very few people, which hampers the ability to make meaningful insights.

23andMe Research Model and Rare Disease

About a year ago 23andMe published a paper illustrating how our research model is uniquely positioned for this kind of research. The paper outlined what at the time was believed to be the largest genetic study of rare diseases ever done. Using insights from that paper, 23andMe launched its Rare Diseases Research Study. 

The handful of conditions we began with included:

  • Systemic sclerosis, which causes the hardening of the body’s connective tissue. (This study was first begun in 2021.)
  • ANCA-associated vasculitis, a group of autoimmune diseases that are characterized by inflammation of small vessels. 
  • Pemphigus vulgaris, an autoimmune disorder that involves blistering and erosion of the skin as well as the mucous membranes.
  • Dermatomyositis, an inflammatory disease marked by muscle weakness and a distinctive skin rash.

Before launching the Rare Disease Research Study, some of 23andMe’s rare disease cohorts had fewer than 150 individuals who had consented to participate in research. Since launching the study, we’ve added almost 200 consented research participants to help fuel this research. 

New Conditions

With this positive trend, 23andMe added eight more diseases to this study including;

    •  Pulmonary arterial hypertension, a rare and progressive form of pulmonary hypertension (PH) that is caused by an obstruction in the small arteries in the lung. 
    • Primary sclerosing cholangitis, a chronic disease in which the bile ducts inside and outside the liver become inflamed and scarred, and eventually narrowed or blocked.
    • Pulmonary fibrosis is a lung disease that occurs when lung tissue becomes damaged and scarred.
    • Myasthenia gravis, a chronic autoimmune disorder in which antibodies destroy the communication between nerves and muscle, resulting in weakness of the skeletal muscles.  
    • Myelodysplastic syndrome, a group of disorders caused by blood cells that are poorly formed or don’t work properly.  
    • Lymphangioleiomyomatosis, a lung disease caused by the abnormal growth of smooth muscle cells, especially in the lungs and lymphatic system.
    • Giant cell arteritis, a part of a group of disorders that cause inflammation within blood vessels, most commonly in the head.
    • Essential thrombocythemia, a condition where too many platelets are produced in a person’s bone marrow. Symptoms develop over time but they can lead to difficulty breathing, weakness, fatigue, clotting, strokes, and an enlarged spleen, among other things.

The goal is to recruit 1,000 participants for each of these conditions which can help us have stronger statistical power for research. This can drive meaningful insights that could ultimately lead to the development of better treatments. We hope to expand this study further by adding new rare conditions in the future.

To learn more go here.

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