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People with this rare genetic condition can't repair damage to their DNA
LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged ...
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 ...
Ozzy Osbourne's ‘rare’ genetic diagnosis leaves him battling 'more than 40 symptoms'
Ozzy Osbourne revealed he had been hiding a secret from his fans; he had been diagnosed with Parkinson’s Disease the year ...
KJZZ2d
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 ...
From warmups with the team to throwing out a first pitch: 3 kids facing major health challenges will be VIPs at Brewers spring training
They'll be heading to Phoenix with their families for a few days to meet players, participate in warmups, tour the clubhouse ...
'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 ...
EurekAlert!12d
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 ...
Metro14d
Mystery surrounds ‘very rare’ ancient cave pearls after incredible discovery
A ‘unique’ collection of ‘pearl caves’ containing archaeological artefacts has been found in an ancient tunnel. The pearls are a type of ‘speleothem’ – mineral deposits that are ...
Canada16d
Drugs for Rare Diseases – Ontario Agreement
Health Canada has authorized Welireg to treat von Hippel-Lindau (VHL) disease in adults, an inherited genetic condition associated with tumours developing in multiple organs. For the estimated 302 to ...
heraldsun.com.au18d
Heel prick test for babies now able to check for new condition in Victoria
“They’re all really rare genetic disorders that we’re testing for, but the only way to know if the baby has them is with this blood test. “So while doing the test we were already ...
GoodNewsNetwork18d
After Brush with Rarest Genetic Disorder in the UK Belfast Girl Meets Developmental Milestones
“Callie is the only person in the UK who is currently diagnosed with a very ... SURVIVING RARE DISEASES: After Taking Vitamin B2 Baby Becomes Solitary Case of Recovery from Rare Genetic Disease ...