Last month, San Diego-based biotech company Sequenom released its long-awaited early pregnancy test for Down syndrome. Unlike previous methods such as amniocentesis, which carries a significant risk ...

Researchers at the Francis Crick Institute, King's College London and University College London have shed light on the genetics behind changes in the structure and shape of the face and head in a ...

(SALT LAKE CITY)—Results of groundbreaking research announced this month at the University of Utah may pave the way for changes in treatment of Down syndrome and other genetic disorders. For two years ...

Decades ago, researchers showed that Down syndrome (also known as trisomy 21), was caused when individuals carried an extra copy of chromosome 21. Down syndrome is also the most common genetic cause ...

National Institutes of Health researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be more similar to the changes seen in humans. The ...

Emma McLean is a 6-year-old girl who loves Taylor Swift, reading books, playing the drums and hanging with her little sister. While Emma has Down syndrome — specifically a rare type called Mosaic Down ...