Health and Me on MSN4h
What Is Alkaptonuria? The Rare Disease That Turns Your Pee Black – Here’s Why
Alkaptonuria is a rare genetic disorder that causes black urine due to homogentisic acid buildup, leading to joint pain, ...
The short and long of protein tails: How they aid membrane insertion and may impact genetic disorders
The fatty membrane surrounding every living cell is a vibrant environment where countless biological processes take place.
Personalized therapy for rare genetic diseases: Patient-derived organoids offer new hope
Children's Mercy Kansas City has achieved a significant advancement toward the treatment of rare genetic diseases through the ...
Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid ...
KUNM18h
Spinal stimulation restored muscles wasted by rare genetic disorder
Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal ...
Inside Ozzy Osbourne’s ‘very rare’ Parkinson’s diagnosis years after symptoms started
Ozzy Osbourne has been battling a rare form of Parkinson's Disease known as Parkin 2. In 2020, he disclosed to his fans that ...
EurekAlert!10d
JAX researchers alleviate symptoms of ultra-rare genetic disease
In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches -- gene therapy ...
technologynetworks11d
Long Read Sequencing Speeds Up Rare Disease Diagnosis
One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing. Even when a person does have ...
TheBetterIndia15h
‘No One Should Face This’: After Losing Daughter, Dad Ensures No Rare Disease Patient Suffers Alone
Through policy framework shifts, appeals to the court for rare disease funds, and starting a centre in Bengaluru, Prasanna ...
First newborn babies in Sheffield tested for rare, treatable genetic conditions
A world-leading study screening up to 100,000 newborn babies in England for more than 200 rare genetic conditions has now ...
Delay in roll out of ₹974 crore under rare diseases policy hits patients
Advocacy groups urge Health Ministry to intervene urgently in delayed funding for rare disease treatments, impacting patients ...