LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged ...

Jay and Pamela both have Osteogenesis Imperfecta Type 3, a condition that causes fragile bones. Both get around in motorized ...

Families of rare disease patients appeal to PM Modi and Health Minister for increased treatment funding support.

Through policy framework shifts, appeals to the court for rare disease funds, and starting a centre in Bengaluru, Prasanna ...

Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal ...

Carissah Holland, an Owasso girl with MPS VI, underwent multiple surgeries and advocates for others while pursuing her dreams ...

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 ...

Emily Cooper says all bereaved families should be offered genetic testing if they lose a child to unexpected sudden death. | ...

Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal stimulation. Spinal stimulation restored muscles wasted by rare ...

For the last 10 years, the only effective treatment for hypophosphatasia (HPP) has been an enzyme replacement therapy that ...

DAVID Tennant has confirmed for the first time that he was born with a rare genetic disorder.  The 53-year-old actor opened ...

After combing through 4,000 existing medications, an artificial intelligence tool helped uncover one that saved the life of a ...