Enriquez lives with chronic kidney disease, neurofibromatosis, which causes tumors to form, scoliosis and Raynaud's ...

With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...

Diagnosing 3M syndrome can be a long and frustrating process, filled with misdiagnoses and painful uncertainty. To know what ...

Patient associations are shaping trials, asking hard questions, and demanding realistic timelines for treatment delivery.

The North Attleboro resident told 12 News she's run in the Abbott World Marathon Majors' seven iconic races, which take place ...

Treyson Wallace was diagnosed with Argonaut syndrome at the Undiagnosed Disease Program at UW-Madison's Center for Human Genomics and Precision Medicine.

Influencer Hannah Campbell announced that her 10-month-old daughter, Elliana Rose, has died. “Our sweet girl Elliana Rose ...

Francesca Jones, a British tennis pro born with a rare genetic disorder, collapsed during a match in Colombia on Tuesday.

As influencer Hannah Campbell mourns the death of her 10-month-old daughter, Elliana Rose, she is also doing her part to ...

Researchers at the Garvan Institute of Medical Research have launched the Genomics of Rare Disease Registry, to help improve ...

Nitisinone, a drug that is already used to treat two genetic diseases, could be repurposed to control the spread of malaria, ...

The Genetic Architecture of Congenital Diarrhea and Enteropathy - (https://www.nejm.org/doi/10.1056/NEJMoa2405333) ...