Aug 22, 2022 - Research

23andMe Launches Rare Diseases Study

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Listening to those with a rare disease, a common refrain is that they often feel isolated, unheard, and alone.

But they’re not alone.  

Much to Learn

While each rare disease is by definition uncommon — affecting fewer than 200,000 people — there are more than 7,000 known rare diseases. There are more than 300 million people worldwide who have a rare disease. Yet because these rare diseases are unique and affect small groups of people, the conditions are difficult to study. 

Disease research can sometimes be a numbers game, and research into rare diseases is often stymied as scientists struggle to gather enough individuals with the condition who are able to participate in their research. While we know that about 70 percent of rare diseases are genetic, there is so much we don’t know about these conditions. Only about 5 percent of all rare diseases have approved treatments.  

Potential for Insight

23andMe hopes to change that. Part of our mission as a company is to focus our therapeutics efforts on conditions with unmet needs and to maximize our chances of discovering novel genetic insights to help in that search. 

In the last few years, our researchers have discovered how powerful our unique research platform is for making important discoveries about these rare conditions. People with rare diseases are not limited by geography, and can easily participate in research if they choose, while our scientists can leverage online tools and data on a massive scale, to study a broad range of conditions.

“We have the potential of making genetic findings for several rare diseases for which there currently is very little known,” said John Matthews, Ph.D., M.D., and the Senior Clinical Development Fellow on 23andMe’s Therapeutics team.

23andMe’s Rare Disease Research Study

23andMe’s Rare Disease Research Study will start with a handful of rare diseases, recruiting individuals to participate in innovative genetic research around — systemic sclerosis (a study we first started in 2021), ANCA-associated vasculitis, pemphigus vulgaris, and dermatomyositis. 

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

In addition to these four conditions, 23andMe will expand another existing rare disease study on  idiopathic pulmonary fibrosis, which causes irreparable scarring of the lungs that progressively worsens lung function. The study now will broaden to include other types of lung fibrosis as part of this program. 

The hope is that this work will lead to discoveries and insights into possible new treatments. We plan to slowly expand the number of conditions we study in the coming months.

In typical rare disease research, scientists have relied on very small cohorts of perhaps a few dozen individuals or studied members of the same family who all might share a rare condition. But that makes it very difficult to gain new insight into genetic variants that were previously unknown to be associated with these rare conditions.

A Revelation

In what at the time was believed to be the largest genetic study of rare diseases, 23andMe published research in 2021 explaining how the company is uniquely positioned to study rare diseases. 

Using data from more than 1.6 million research participants, including 19,000 who reported a rare disease diagnosis, 23andMe scientists conduct genome-wide association studies on 33 different rare diseases. The 23andMe study is the first Genome-Wide Association Study (GWAS) ever done for a few of these rare conditions. The study identified new genetic associations for each. The research was a revelation. Finding these associations offers scientists a deeper understanding of the biological pathways for the conditions and offers the possibility for identifying potential treatments.

“It was a surprise for us when we were able to find genetic associations in studies of rare diseases with only tens of affected individuals,” said 23andMe senior scientist in statistical genetics, Suyash Shringarpure, Ph.D., who worked on the study. “Another surprise was finding that common genetic variants show association with rare disease risk. Previously, it has been found that rare genetic variants cause rare diseases, so this was unexpected.”

You can learn more about 23andMe’s Rare Disease Study by following the links to the disease-specific landing pages below:

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