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

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 revealed he had been hiding a secret from his fans; he had been diagnosed with Parkinson’s Disease the year ...

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

After combing through 4,000 existing medications, an artificial intelligence tool helped uncover one that saved the life of a patient with idiopathic multicentric Castleman's disease (iMCD).

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

Epigenetic clocks that quantify rates of aging from DNA methylation patterns across the genome have emerged as a potential biomarker for risk of age-related diseases, like Alzheimer’s disease (AD), ...

Jeremiah Marshall, 33, has epidermolysis bullosa, a rare genetic disorder that makes his skin tear or blister at the ...

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

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 ...

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 ...

“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 ...