Rare diseases reveal that our sense of identity rests on fragile biological infrastructure, much of it operating outside ...

Both of their children have been diagnosed with Sanfilippo syndrome type B, an incredibly rare genetic disorder that only ...

Knowing that her life will end, the 25-year-old said she has decided to “die on my own terms” with voluntary assisted dying ...

Instead of requiring personalized gene edits for each patient, the new approach could create a standardized method to use for ...

Earlier this year, researchers at Children's Hospital of Philadelphia and Penn created a first-of-its-kind drug customized to ...

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 ...

The National Institutes of Health established the Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium in 2021 with the goal of finding molecular diagnoses for individuals ...

Northeastern University researchers used an original machine learning tool to predict how genetic mutations cause a rare ...

On the outside Jack Linehan appears to be like any other kid his age. Up until two years ago, the nine-year-old with long, ...

A Washington state resident is believed to be the first person to die from a rare strain of bird flu, but state health ...

Amanda LaValle pushed for her daughter to get genetic testing. When she learns that her daughter is one of only six people in ...

Earlier this year, researchers at CHOP and Penn created a first-of-its-kind drug customized to a unique genetic mutation to save an infant named Baby KJ from dying of a rare liver disorder. KJ Muldoon ...