Do you know enough about your family history? Experts say knowing the ins and outs of your health family tree is one of the ...
New research helps explain why disease-associated genetic variants can lead to variable clinical outcomes, influenced both by the patterns of secondary variants, or genetic background, and by how ...
The Center of Excellence in Medical Genetics, Faculty of Medicine, Chulalongkorn University, has launched one of the world’s first projects to perform long-read whole genome sequencing in newborns.
"It's a slow-moving train wreck," Mike Graglia says about his 12-year-old son Tony's rare genetic disease with no cure. Caused by a tiny fluke of nature—a mutation in a gene known as a SYNGAP1—the non ...
Growth charts for children with rare genetic disorders—giving health care professionals and families clearer guidance on how ...
The era of genetic medicines has ushered in novel and exciting ways of treating genetic diseases, one of which includes bringing to reality the promise of a one-time treatment by addressing the root ...