Marci Shelman and Tristan Dederscheck’s “miracle” baby was diagnosed with neonatal Marfan syndrome. After four months in the ...
International Angelman Day also marks the birthday of Dr. Harry Angelman, the British pediatrician who first identified the ...
As Kristin McKay and her family celebrate another holiday season with their beloved son Charlie, they do so with the ...
The first few months of life are a very important period in terms of human development, and at this point, many of the most ...
Even as humpbacks rebound in number, their genomes reveal a loss of genetic diversity and a buildup of harmful mutations left ...
Groundbreaking research at Seattle Children's Hospital provides critical genetic diagnoses for newborns within 48 hours.
A microscopic flaw in the brain’s cellular scaffolding can shape brain size for life.
Morning Overview on MSN
This rare mutation wipes brain cells, and the trigger is finally known
A vanishingly rare genetic glitch in a single enzyme can erase a newborn’s brain cells in a matter of weeks, leaving doctors ...
In recent decades, the microbiome has emerged as a dynamic ecosystem, an “invisible organ” that plays a crucial role in systemic health and, more recently, in ophthalmology.When naturally balanced, ...
The study focused on inherited retinal degenerations (IRDs), a group of genetic diseases that lead to progressive vision loss ...
It was the best of times, it was the worst of times for research in 2025. | It was the best of times and it was the worst of times for research in 2025. Medical breakthroughs and stunning discoveries ...
A new study challenges what's long been assumed about genetic variants thought to always cause inherited blindness.
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