Expanded newborn genetic screening can diagnose hundreds of actionable conditions, allowing for earlier treatment.

RWJUH and Rutgers RWJMS designated a National Rare Disease Center of Excellence from NORD, highlighting leadership in rare ...

A new AI model called popEVE can predict how likely each variant in a patient’s genome is to cause disease. The team is ...

When our son Peter was diagnosed with an ultra-rare form of muscular dystrophy at the age of 10, the first question we asked was: Is there a treatment? The answer was no. By the time our daughter ...

The Food and Drug Administration’s rare pediatric disease priority review voucher program, which has been providing incentives for lifesaving innovations since 2012, is doomed to disappear unless ...

RWJUH earns Rare Disease Center of Excellence designation from NORD, becoming New Jersey's first recognized center for rare disease care.

Peer-reviewed publication examines the benefits of proactive exome reanalysis on diagnostic outcomes Ambry Genetics’ Patient for Life program is supported by a dedicated team of scientists who ...

The UK has the science base and ambition to transform outcomes for people living with rare diseases. Delivery now depends on ...

A rare disease or disorder is defined as affecting fewer than 200,000 Americans each year. There are more than 7,000 different rare disorders. Combined, 1 in 10 Americans has a rare disorder, so the ...