GeneDx announced a record-setting year for its research programs, reinforcing its position as the global leader in rare ...

Protalix ( ($PLX) ) has shared an update. On January 5, 2026, Protalix BioTherapeutics released a letter to stockholders outlining its strategy to ...

Lozano is a rare disease mom, neuroscience Ph.D. candidate at UC Davis, and board member for the PURA Syndrome Foundation. In May, a historic moment in science and medicine was captured in a single ...

Zevra’s main revenue driver is a drug called MIPLYFFA, which is used to treat the rare progressive genetic disorder ...

Tiffany Fransen, diagnosed with Friedreich's ataxia, faces challenges from this rare disease. The genetic disorder affects ...

BioMarin is acquiring Amicus Therapeutics for $4.8 billion, merging two rare disease-focused biotechs founded around the turn ...

Rare diseases are defined as conditions affecting fewer than 200,000 people in the US or less than 1 in 2,000 in Europe. 1-2 While each disease is individually rare, collectively, they represent a ...

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer ...

The seven-year medical odyssey that once defined rare disease diagnosis is being rewritten by algorithms capable of identifying medical zebras in the time it takes to refresh your social media feed.

For the last four years, Matt Millis has dragged his Christmas tree to a depository near the Lake of the Woods. But not from ...

After a tumultuous year, experts call for stability while anticipating the first fruits of policies intended to expedite ...

When his infant son was diagnosed with a rare disease, a Canadian father was dismayed to discover there was no treatment or cure. So he set out to make one himself. Terry Pirovolakis, an IT director ...