Lengthy-read genome sequencing: Remodeling genetic diagnostics for uncommon illnesses
Evaluation of assorted genetic variants. Credit score: Nature Genetics (2025). DOI: 10.1038/s41588-025-02160-y…
Q&A: Twenty years of analysis result in therapy for uncommon, painful pores and skin situation
Credit score: Unsplash/CC0 Public Area Sufferers with extreme dystrophic epidermolysis bullosa, or…
The True Story of a Uncommon Eva Hesse Portray Discovered at a Goodwill Public sale
One afternoon final fall, 55-year-old Kara Spellman was working from her Higher…
Investigational gene remedy offers youngsters with uncommon immune dysfunction a brand new lease on life
Credit score: Pixabay/CC0 Public Area An investigational gene remedy has efficiently restored…
Stroke in younger folks shouldn’t be that uncommon, says stroke specialist
Credit score: Unsplash/CC0 Public Area Individuals usually consider stroke as an aged…
Uncommon ailments usually go undiagnosed or untreated in elements of Africa. A challenge seeks to alter that
Neurology scholar Henriette Dieng examines Abdou Diop, a affected person with genetic…
Genetic drugs can depart folks with uncommon mutations behind. However there’s new hope
This photograph offered by Emily’s Entourage in April 2025 exhibits Emily Kramer-Golinkoff,…
Uncommon variants in GPKOW related to multisystemic X-linked developmental dysfunction
Credit score: CC0 Public Area A brand new examine printed in Genetics…
GLP-1 therapies present potential for treating uncommon genetic dysfunction Bardet-Biedl syndrome
Credit score: Monell Chemical Senses Heart A Monell Chemical Senses Heart research…
