Indiana University School of Medicine researchers have uncovered compelling evidence that children with primary ciliary ...

Two years ago, Alexa underwent a corpus callosotomy, a surgery to prevent seizures from spreading from one side of the brain ...

Launched in 2018, the CRDC has analyzed DNA from more than 13,800 patients and family members. More than 30 percent of enrolled patients now have explanations or promising potential explanations for ...

Kanazawa University, have discovered how a protein called lamin A helps repair the protective barrier around a cell's DNA.

A new review reveals how your DNA shapes reproductive health, fertility, and even life expectancy. Led by researchers from the University of Oxford's Leverhulme Centre for Demographic Science and the ...

Angelman syndrome is a rare disease that disrupts the normal development and function of cells, particularly in the nervous ...

Led by researchers from the University of Oxford's Leverhulme Centre for Demographic Science and the University of Iceland, ...

Because of Violet Fuchs' rare genetic disease, she is blind, non-verbal and quadriplegic. She cannot move independently and ...

Each boy got a liver transplant at the medical center, the region’s only children’s hospital and one that treats any child ...