Gene variant could protect against ultra-rare seizure disorder, fruit fly research finds
One in 10 Americans live with a rare disease, which often lacks effective treatments. Such is the case for PIGA-CDG, an ultra ...
How a former navy mechanic defied the genetic odds of inherited Alzheimer's disease
Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual ...
Baylor College of Medicine15h
Repair Drive: Precision gene therapy for liver disorders
Gene editing is already being used to treat a handful of rare genetic diseases; however, most therapies involve breaking or ...
Woman, 18, was trapped in 'body of child' due to rare disease
Elena, 18, from Genoa in Italy died after battling a rare genetic disorder called NUBPL mitochondrial disease. She weighed ...
Acsh.org1d
Rare Diseases Are Neglected. The FDA Needs A Dedicated 'Center of Excellence for Rare Diseases'.
The FDA has made some modest efforts, but it needs an internal organization that understands and would be an aggressive ...
WGN Radio2d
GeneDx CEO wants genetic testing for every newborn
GeneDx has a big market in mind for its genetic testing: every newborn baby. The 24-year-old-company wants to make the testing common at birth. The goal: Identify potential diseases or conditions ...
Baby is one of just 23 in the the world with rare genetic disease
A four-week old baby is one of just 23 to have been diagnosed with a deadly genetic disease so rare that it has no name.
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 ...
Interlochen Public Radio6d
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 ...
'Jay & Pamela': Meet TLC's Newest Couple With the Same Super Rare Genetic Disorder (Exclusive Trailer)
A new TLC reality series, Jay & Pamela, is just around the corner—and its stars are an engaged couple born with the same ...
'People called me an alien at school because of my rare health condition'
Jeremiah Marshall, 33, has epidermolysis bullosa, a rare genetic disorder that makes his skin tear or blister at the slightest touch - he was called an 'alien' at school ...