rare disease

Diseases are considered rare if they affect fewer than 200,000 in the United States, but collectively rare diseases — there are nearly 7,000 — are more common than we realize,...

23andMe senior scientist in statistical genetics, Suyash Shringarpure, Ph.D. talks about 23andMe's research model and how it offers a surprising opportunity in the study of rare diseases.

When Melissa Tarantino talks about facing challenges every day to her special needs students at a middle school near Sacramento, they listen. They all are aware that she knows what...

Systemic sclerosis, a form of scleroderma, is a rare disease that causes the hardening of the body’s connective tissue. Gloria Blecha, the Director of Community Engagement at the Scleroderma Research...

Recently we chatted with Bill Vick, founder of PF Warriors, a non-profit group for people living with pulmonary fibrosis, including idiopathic pulmonary fibrosis (IPF). Being diagnosed with IPF, as with...

Researchers at 23andMe described what is believed to be the largest genomic study of rare diseases ever done in a groundbreaking new paper. The study offers up a potential alternative method for gaining insight into these challenging-to-study conditions.

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...