rare diseases

Planned acquisition will strengthen the presence of the Healthcare business of Merck KGaA, Darmstadt, Germany, in the United States and expand reach of SpringWorks' therapeutic innovations to more patients with rare tumors worldwide

In a Phase 2b trial, Khondrion’s sonlicromanol led to significant health benefits for patients with mitochondrial disease linked to a common mutation. 

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.