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

The National Organization for Rare Disorders (NORD(R)) today urged Congress to reauthorize the Rare Pediatric Disease Priority Review Voucher (RPD PRV) program by year-end, warning that continued ...

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

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 ...

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

Mycosis fungoides is the most common subtype, making up the vast majority of CTCL cases. While early-stage disease has an estimated five-year survival rate of 88%, it remains a difficult-to-manage ...

From the column: "The policy has long enjoyed bipartisan support: It channels private dollars toward children’s hardest ...

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 ...

Misdiagnosis or underdiagnosis of rare diseases in patients with diagnoses of common diseases can lead to delayed or inappropriate treatments, thereby complicating the management of both rare and ...

The Rare Disease Researcher Interest Group seminar series brings together researchers from different fields to learn about and discuss rare disease research, regardless of experience level with rare d ...

Los Angeles-based Cedars-Sinai has been designated as a Rare Disease Center of Excellence by the National Organization for Rare Disorders. The health system joins a group of 46 other healthcare ...