New rare genetic disease affecting motor neuron and muscle control identified

An international research team, led by Shinghua Ding at the University of Missouri, has identified a previously unknown ...
MM&M

Pediatric rare diseases are often underdiagnosed. GeneDx wants to change that.

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...

How a Rare Disease Could Yield a Pandemic Drug

But recently, scientists took inspiration for such a super drug from a quiet corner of the medical world: The small subset of ...

Common genetic causes across motor neuron diseases identified

Motor neuron diseases, such as amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP), share physical ...

Ultra-rare diseases got a boost from recent FDA approval signalling more regulatory flexibility

The drug’s accelerated approval was based on the intermediate endpoint of improvement in knee extensor muscle strength. The FDA is requiring Stealth to conduct a post-approval randomized, double-blind ...

BridgeBio lands another rare disease drug trial, seeks FDA approval

The drug, discovered by Japan Tobacco and once in the hands of Merck, was licensed by BridgeBio in 2019.
USA Today

Her 5-year-old has a severe, rare disease. There's a cure, but she can't get it.

Catherine Illingworth, 39, knew something was wrong the moment her son's neurologist walked into the room. Illingworth requested the referral from her son's pediatrician based on instinct. George took ...
Monitor

Ugandan mum faces Shs10b bill for children with rare disease

For Ms Miria Mukiibi Kibirige, that struggle is a daily reality. She cares for two children living with epidermolysis bullosa ...

Actress dead at 23 after fighting same rare disease that country music icon has

The entertainment world was heartbroken to learn last week of popular young actress, Isabelle Tate. She was just 23. Tate ...