Baby born with cloudy eyes is one of just 23 in world with rare genetic disease
The mum and dad of a baby with a genetic disease so rare it has no name have vowed to keep fighting for him after the ...
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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 ...
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Owasso girl with rare growth disorder shares her story
Carissah Holland, an Owasso girl with MPS VI, underwent multiple surgeries and advocates for others while pursuing her dreams ...
ORTH KIDS: Baldry has rare genetic disorder
Doctors told Nate and Mandy Baldry that something wasn’t quite right with their daughter, Cora Baldry, a month before she was born when their baby was measuring small and the amniotic fluid ...
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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 ...
Driscoll Children’s treats baby born with rare genetic disorder
Marcelo was diagnosed with Treacher Collins syndrome, a rare condition affecting facial bone structure and cartilage. The ...
TLC’s newest power couple, ‘Jay & Pamela,’ both have a rare genetic disorder: How to watch
Jay and Pamela both have Osteogenesis Imperfecta Type 3, a condition that causes fragile bones. Both get around in motorized ...
Rare disease patients and advocacy groups appeal to PM Modi for sustainable funding for treatment
Families of rare disease patients appeal to PM Modi and Health Minister for increased treatment funding support.
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Spinal stimulation restored muscles wasted by rare genetic disorder
Daily electrical stimulation of certain nerves in the spinal cord appeared to help three people with spinal muscular atrophy (SMA), an inherited disorder that causes muscles to waste away.