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 ...

N ew Mexico health officials have announced that Betsy Arakawa, a classical pianist, businesswoman, and wife of renowned ...

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, ...

Angelman syndrome is a rare genetic condition that affects the nervous system and causes severe physical and learning disabilities. Sarah said continuing to work as a solicitor had given her a sense ...

Scientists have identified how Rett syndrome progresses at the molecular level. The loss of MeCP2 in adult brains triggers rapid gene dysregulation, independent of developmental factors. These ...

an AI large model can generate alerts about potential rare genetic disorders, such as Rett syndrome or Angelman syndrome, or complex neurodevelopmental conditions within seconds, alongside medical ...