HOMETOWN HEALTH: “I finally had to be rude.” Young Roanoke mother advocates for baby with rare disease

Jamia Cowens is 23 years old with two children an Baby Mah’Lani has a condition called Parkes Weber Syndrome, a rare birth defect that leaves the blood vessels in her left leg tangled, causing what’s ...

Genome Sequencing Solves Rare Disease Mysteries

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...

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 ...

RNA sequencing platform unlocks rare disease diagnoses missed by standard tests

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...
New York Magazine

Did AI Alter the Course of This Baby’s Life?

This article was featured in New York’s One Great Story newsletter. Sign up here. The first nine days of Jorie Kraus’s life followed a pattern: problem, solution. Problem, solution. Problem: Jorie was ...
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 ...
Hosted on MSN

The invisible disorder: An Indian mother shares how an ultra-rare genetic disease reshaped her family's life

When Meenu Hodiwalla gave birth to her son almost three decades ago, she imagined the early days unfolding like they do for most new parents - tiny fingers curling around hers, the baby's eyes ...

Rare disease advocates push for local insurance reforms, improved access to care

Odds are, most people have probably met someone with a rare disease — or even has one themself. While each condition on its ...
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 ...