Rare Disease

First-tier screening test measures total homocysteine levels in newborns to accurately identify HCU-positive samples

Patients with hemophilia A may now only need once-weekly, instead of thrice-weekly, injections of factor VIII

Next-gen technologies and molecular tools are driving the discovery of new protein-, DNA-, and RNA-based biomarkers for rare neurological disease

Lamzede helps break down oligosaccharides and prevents their accumulation in patients with this rare disease

New disease to provide insights into how the cell’s recycling system contributes to a healthy brain

This is the first study to demonstrate the clinical utility of amniotic fluid cells RNA-sequencing

NIH-supported study finds no serious complications following rare immune condition

The approval of this drug represents a major victory in the fight against rare diseases

Download this eBook to learn about the role of expanded carrier screening (ECS) in today's clinical decision-making for reproductive health

A new initiative aims to screen newborns for nearly 400 genetic conditions