Colin Farrell first rose to fame in the 1990s in TV drama Ballykissangel -- a show which acted as a stepping stone for the ...

Riddhi believes that despite biological markers being passed on, it’s also important that parents tweak the way they behave with their kids or in front of their kids. She opines that if as a child ...

Ionis and Ultragenyx are competing to develop oligonucleotide treatments for Angelman syndrome, but will Neuren’s peptide ...

POLG-related diseases disrupt the function of the mitochondria, or "powerhouses" of the cell — starving them of energy.

MONTROSE, Mich. (WJRT) - A Mid-Michigan family is raising money to help their 6-year-old boy with a rare genetic disorder. After spending a few months looking for action figures and fun items, Kristin ...

Acquired DNA mutations found in the SERPINA1 gene can protect liver cells from damage in patients with alpha-1 antitrypsin ...

What is Guillain-Barré syndrome? Guillain-Barré syndrome (GBS) is also called acute inflammatory demyelinating polyradiculoneuropathy (AIDP). It's a neurological disorder in which the body's immune ...

Multiple genetic syndromes include ASD symptoms as part of a broader pattern of dysmorphology and medical morbidity. Space does not permit a review of all such syndromes, but here we highlight a ...

Lucas has Angelman syndrome (AS), a rare neurogenetic condition ... READ: Spinal Muscular Atrophy: Genetic disease that kills, maims kids but with no testing capability in PH “Lucas’ case ...

Laughter fills the consultation room whenever Lucas Oon, 17, is with the team managing his care – pediatric neurologist Jeremy Lin, assistant nurse clinician Kimberly Quek and physiotherapist Melody ...

Hundreds of people are expected to help shine a light on rare illnesses by taking part in the Rare Disease Fun Run on Sunday, ...

"This is not a single disease. There are different forms of it, and they're not just genetic forms versus nongenetic." A 50/50 shot at dementia in your 30s Bonnie knew something was wrong when ...