An infant named KJ Muldoon, born with a severe and typically fatal genetic disorder called CPS1 deficiency, is now walking and talking after receiving a one-of-a-kind, patient-specific gene-editing ...

Congenital heart disease is the most common birth defect, affecting approximately 1 in 100 babies born each year. One of the ...

Northeastern University researchers used an original machine learning tool to predict how genetic mutations cause a rare metabolic disease known as OTC deficiency, uncovering some underlying ...

The Broad Institute, Boston Children’s Hospital, and Maine’s Jackson Laboratory announced a collaboration to develop rare ...

Every person's DNA tells a unique story. To unlock the full potential of genetic research, scientists need tools that reflect ...

Researchers have identified the first evidence of genetic risk factors associated with borderline personality disorder (BPD).

A new nonprofit wants to streamline gene therapy for diseases often avoided by pharmaceutical companies — making treatment ...

Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...

Autosomal dominant Alzheimer's disease (ADAD) is a genetically inherited form of Alzheimer's disease that accounts for only ...

Researchers have uncovered shared genetic pathways that link multiple psychiatric disorders. These new findings have the potential to change the way psychiatric disorders are diagnosed and treated, ...

Scientists from the University of Edinburgh carried out the first major genetic study of the community.