A mom and tech entrepreneur building AI advocate for rare-disease families like hers

AI-powered healthcare startup Citizen Health is using the technology to focus on rare disease, helping manage patient lives ...

Changing the long search for rare disease diagnoses with new AI breakthrough

A newly developed AI tool can dramatically speed up the search for the genetic causes of rare diseases, a process that often ...
The Tufts Daily

GUARDIAN: The newborn screening study redefining early detection for rare diseases

The survival rate in infants with severe combined immunodeficiency, a rare hereditary disease that prevents the body from producing immune cells, is 96% when they receive a bone marrow transplant in ...

Deadly diseases in Minnesota newborns to be targeted in new whole-genome study

A federally funded study is coming to Minnesota to determine if whole genome sequencing at birth can reduce childhood ...

North Branford mom raises awareness for rare genetic syndrome affecting her daughter

Only one in every 10,000 kids are born with it. A disease so rare, a North Branford mom had never even heard of it when her ...

Triad girl’s fight with rare childhood disease inspires mother’s mission for answers

Families push for awareness and research as no FDA-approved cure currently exists for the progressive neurological disorder ...
Medical Xpress

Treating disease at birth: How a brief spike in testosterone sets the trajectory for disease that appears decades later

Spinal and bulbar muscular atrophy (SBMA) is a rare inherited disease that causes progressive muscle weakness and wasting in men. Patients typically develop early symptoms such as hand tremors in ...

Newborn screening update in Utah could change outcomes for rare disease

A new addition to Utah’s newborn screening panel could help future families detect a rare genetic disorder earlier, offering ...
The Washington Post

Scientists are inventing treatments for devastating diseases. There’s just one problem.

This past spring, a biotech company announced the first use of a new gene-editing technology in people to fix an errant gene that causes a severe immune disorder. In June, a baby born with a ...

Commentary: Babies’ first medical tests shouldn’t depend on their ZIP code

A lawyer working in the medical malpractice field highlights a recent story on newborn screenings. The disparity between ...