Rare diseases are genetic disorders that affect a small proportion of the population. Despite their rarity, they can be a ...

Rare genetic diseases are challenging for patients and their families—made all the more overwhelming because symptoms tend to appear soon after birth. To date, there haven’t been many reliable ...

DANVILLE, Pa. – A “genomic-first” approach to screening for rare genetic disorders —identifying specific genetic variants and then studying associated traits and symptoms — can identify these ...

CHICAGO (WLS) -- An $11 million gift was given in the fight against rare genetic diseases. Lurie Children's Hospital in Chicago's Streeterville neighborhood is celebrating a donation that will help ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days. A groundbreaking blood test promises to transform ...

A Northwestern Medicine study has uncovered a promising new therapeutic approach for a rare genetic brain disorder, according ...

A long-established drug with a diverse medical history is drawing new attention for its potential role in treating an ultra-rare and life-threatening genetic disorder. Early findings suggest that a me ...

Add Yahoo as a preferred source to see more of our stories on Google. U.S. Secretary of Health and Human Services Robert F. Kennedy Jr. speaks with U.S. Vice President JD Vance (not pictured) during ...