STAT

FDA approves ultra-rare disease drug that became a symbol of uncertainty over regulatory standards

Ed Silverman, a senior writer and Pharmalot columnist at STAT, has been covering the pharmaceutical industry for nearly three decades. He is also the author of the morning Pharmalittle newsletter and ...
STAT

Parents of children with rare diseases ask: How long until our CRISPR miracle?

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 ...

Exclusive: US FDA cleared pricey rare disease drug over reviewer objections

The FDA approved the drug for Barth syndrome despite findings by its data reviewers that the treatment, while safe, was no ...

'We don’t have time': Parents of 4-year-old with rare disorder urge FDA to reconsider drug denial

The FDA denied approving DCA to treat a rare disorder called PDCD. The Higbees are urging the agency to reconsider.
Napa Valley Register

A look at some key statistics on rare diseases in the U.S.

The global pharmaceutical industry is make huge investments in treatments for rare diseases, which once drew little interest from major drugmakers. A look at some key statistics on rare diseases: ...
MM&M

Rare disease patients, caregivers are at odds over health information

Rare diseases are complicated and communicating reliable, accessible health information around them can be even more complicated. Some conditions like RPI deficiency or Aicardi syndrome affect less ...
Business Wire

New Study Shows Impact of Ambry Genetics’ Patient for Life™ Program on Rare Disease Diagnosis

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 ...
The Cincinnati Enquirer

Parents of child with rare disease worry after NIH cuts grant that provides him treatment

Charlie Evans, 13, who suffers from severe food allergies and eosinophilic esophagitis (EoE), takes part in an NIH-funded study at Cincinnati Children's hospital. The NIH dismissed the hospital's ...
Yahoo

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 ...