Think your seasonal allergies are bad? Some people are allergic to water, cold temperatures, or even exercise. Explore the ...

When it comes to health, most of us are familiar with the usual suspects: fevers, colds, maybe a sprain or two. But the human body and brain are capable of some truly strange malfunctions that sound ...

The decision-making body of the World Health Organization (WHO) has adopted a resolution to establish a global framework to support the diagnosis and management of rare diseases and promote research ...

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 ...

Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to appear soon after birth. To date, there haven’t been many reliable ...

ST. PAUL, Minn., May 25 (UPI) --A new rapid blood test for newborns could potentially detect genetic mutations linked to thousands of rare diseases all at once, greatly improving on current ...

A key lawmaker and Florida State University leaders Wednesday touted a new law that includes offering free genetic screening for newborns and bolstering research on rare pediatric diseases. Gov. Ron ...

Gene therapies for rare diseases are frequently developed then discarded by drug companies because they can’t afford to produce the treatment for more patients. Gene therapies for rare diseases are ...

After going through the unimaginable when their young son was diagnosed with a rare, neurodegenerative disease, Emma and Dylan Jobsis have found themselves once again fighting for their son. The ...

His family says they have exhausted every option — contacting lawmakers, drug manufacturers, and journalists — and are now ...