Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost.

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces -- short reads. Scientists found ...

European consortium for Solving the Unsolved Rare Diseases demonstrates the significance of international collaboration to ...

More than 500 European patients with unknown conditions have received a diagnosis through new genetic research. This includes patients with rare neurological disorders, severe intellectual ...

Rare diseases are typically due to genetic causes. These causes are more and more often identified using genome sequencing techniques. Genome sequencing examines the entire genome of an individual ...

Genetic sequencing has gone through several advances. A major breakthrough came when scientists began breaking the billions ...

The “heel prick test” routinely offered to all newborns in Victoria is being expanded from Wednesday to include screening for ...

A common antihistamine may offer hope for patients with a rare genetic disease that can lead to severe liver damage and ...

The gene mutation was isolated in a family in northern Italy where under half of the relations developed the disease. View on ...

On December 17, 2024, the Department of Health & Human Services, Office of Inspector General (HHS-OIG) issued its second favorable advisory ...