Discover Sanfilippo Syndrome a rare genetic disorder affecting childrens development Learn about its symptoms treatment ...

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...

Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...

A skull thought to belong to Cleopatra’s half-sister, Arsinoë IV, has actually turned out to be from an adolescent boy […] ...

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare ...

Callie's doctors have used the experience of treating the girl to try and improve the diagnostic accuracy of PPA2.

Craig Thomas told PEOPLE that the birth of his son inspired him to inject more emotion into the hit sitcom More than a decade ...

European consortium for Solving the Unsolved Rare Diseases demonstrates the significance of international collaboration to ...

Christi-Joe’s mother, Josephine Clements, says her daughter, who goes by CJ, has 22q11 Deletion Syndrome. Now considered the ...

CHIEFLAND, Fla. (WCJB) -Michelle Gentry is the grandmother to four-year-old Gunner Carter, who was diagnosed with Cornelia De ...

Disc Medicine finalised the pivotal Phase III trial design of bitopertin in erythropoietic protoporphyria (EPP) with the FDA ...

This case study explores a rare overlap of hidradenitis suppurativa and porokeratosis, as well as highlights the unique ...