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

She was found to have a very rare condition that causes increased ... "Around one in 17 people are affected by a rare genetic disorder, the majority of whom are children, and making the right ...

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

In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches -- gene therapy ...

Ozzy Osbourne has been battling a rare form of Parkinson's Disease known as Parkin 2. In 2020, he disclosed to his fans that ...

This is especially true for very long repetitive sections of ... Gilissen and colleagues selected 100 samples where the genetic causes of rare diseases had been difficult to identify in previous ...

Marcelo was diagnosed with Treacher Collins syndrome, a rare condition affecting facial bone structure and cartilage. The ...

Rare disease plus rare version of it plus weird ... The testing took two months, but UCSF finally diagnosed Scout with an extremely rare genetic condition. He was identified as the fifth person ...

A new TLC reality series, Jay & Pamela, is just around the corner—and its stars are an engaged couple born with the same ...

a rare and fatal genetic disorder affecting the central nervous system. On the very day Noa was diagnosed, an experimental gene therapy and clinical trial were posted to treat Canavan disease.