rare diseases

Industry leaders name the clinical trials and developments they’re most excited to see in the new year.

The FDA approved two new medications for Niemann-Pick disease type C that improve symptoms, showing the power of community advocacy.

The durability and capacity to boost protein expression of circular RNA makes it a promising candidate for next-generation vaccines and gene therapies.

Diverse genetic and environmental factors such as stress or UV exposure can spark autoimmune diseases. 

Paolo Martini leads the biotech company’s rare disease research program with the hope of developing the very first treatments for genetic metabolic disorders.

A new porcine model for the rare neurological disorder CLN3 Batten disease more faithfully recreates human symptoms and could accelerate drug development.

Researchers and patients developed unexpected and innovative solutions to a mysterious disease that appears as little more than a hiccup.

A search for a new cancer mouse model turned into the first ever treatment for a rare disease called venous malformations.

Kan Cao studies the rare aging disorder progeria to find a cure, and she’s ready to solve the mysteries of healthy human aging along the way.

While some pediatric brain cancers have known genetic causes, many do not. Three-dimensional profiling revealed new disease mechanisms and drug targets.