Explore recent changes in rare disease treatments regulation. Discover how these reforms aim to enhance patient access in the ...

PAP is a rare lung condition that can be difficult to diagnose because it may mimic many other more common lung diseases,” ...

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 ...

Now 4, Cade Jobsis has been receiving treatment that helps keep him strong. But with funding pulled, his parents don't know how much longer he'll get it Leah Serena Photography After going through the ...

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 ...

Thirteen-year-old Leo Barker’s father, Tom, upended his research to stall a rare genetic illness that strikes 1 in 50,000 ...

A groundbreaking FDA approval offers the first-ever treatment for ultra-rare Thymidine Kinase 2 Deficiency (TK2d). KYGEVVI, a ...

Soft tissue sarcomas (STS) are rare malignant tumors arising from connective tissues such as muscle, fat, and blood vessels, ...

A once-rare disease that causes a person to develop a severe allergy to red meat is seeing an "explosive rise" across America ...

Nashville' actress Isabelle Tate died after being diagnosed with a rare form of Charcot-Marie-Tooth disease, her agency ...

With hand, foot and mouth disease, or HFMD, spreading through certain parts of the country, there are certain symptoms to ...