rare disease

A new study by scientists at 23andMe, the Hospital for Sick Children (SickKids), and the University of Toronto offers insight into how the nuclear genome controls the emergence of mutations...

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...

This month marks the tenth anniversary of one of the greatest scientific achievements of our time when in 2003 researchers decoded the last of the three billion letters that make...

by Amick Boone In the memoir “The Still Point of the Turning World,” author Emily Rapp recounts the nine agonizing months following her son Ronan’s diagnosis of Tay-Sachs, a rare...

February 28 is Rare Disease Day – a concept first initiated by the European Rare Disease Organization (EURORDIS) and now recognized around the world. Around 6,800 rare diseases have been...

By Meghan Mullins Before joining 23andMe, I worked at a more traditional genetic research lab. Like virtually all research centers, we didn’t return genetic results to our research participants. I...

We hear a lot about common conditions because so many people have them and in contrast relatively little about rare diseases. But how rare is rare? If you add up all the rare diseases it turns out that about 30 million Americans suffer from a rare disease. That’s nearly 10% of the population – suddenly rare is not so rare! Today is Rare Disease Day, so learn more about how you can help raise awareness.

With our rare disease research initiatives for sarcoma and myeloproliferative neoplasms, patients from all over the world can contribute directly to research and connect with others who have their disease, all while learning more about themselves and their genetics. We’re amazed at the progress these initiatives have made, but there’s still a long way to go. With Rare Disease Day this week, we hope you’ll help us spread the word to encourage participation in our innovative research efforts for rare disease.

[Update: View a video recap of Sarcoma Community Night at https://www.23andme.com/sarcoma/] Three. That was the average number of patients enrolled in studies for sarcoma four years ago when Nathalie Criou,...

Kathleen Gallagher and Mark Johnson are good reporters but it didn’t take a lot to figure out that the tip they got was big news. Doctors, Gallagher heard, had used...