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.

American actor Gene Allen Hackman, who was found dead along with his wife, Betsy Arakawa on February 26, at their home died of a heart disease complicated by Alzheimer’s disease.According to officials ...

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 ...

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

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 ...

Lucas Oon has Angelman syndrome, which is characterised by a happy demeanour and an easily excitable nature. Read more at ...

UBE3A is an E3 ubiquitin ligase encoded by an imprinted gene whose maternal deletion or duplication leads to distinct neurodevelopment disorders Angelman and Dup15q syndromes. Despite the known ...

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 ...

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