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Samantha Denison, 58, has neuroferritinopathy, a rare disease that mainly affects a small number of families with roots in Cumbria.

Ferritin is a highly conserved spherical protein that stores iron and possesses triple and quadruple symmetry input ports. Additionally, it is composed of light chains that can be affected by ...

In people with neuroferritinopathy, perhaps the ferritin heteropolymers containing the aberrant L chain are inherently unstable; here, the release of iron might also occur spontaneously as ...

A 34-year-old woman with a 2-year history of progressively worsening difficulties in walking, eating and swallowing, presented to our department. Additionally, the patient's sister reported observing ...

A large number of clinical studies demonstrate that the ketogenic diet (KD) may be an effective approach to the reduction of epileptic seizures in children and adults. Such dietary therapy could also ...

Neuroferritinopathy, a rare genetic disorder, causes abnormal iron accumulation in the brain, leading to movement disorders and cognitive decline.

A clinical trial has been launched at the University of Cambridge that will explore the potential to repurpose the UK-licensed medicine deferiprone for patients with an ultra-rare genetic disease.

LifeArc has announced that it has funded a pivotal clinical trial at the University of Cambridge for £750,000 to re-purpose a UK-licensed medicine to treat the ultra-rare genetic disease ...

Neuroferritinopathy is a debilitating and progressive condition characterised by an abnormal build-up of iron in the brain. Credit: Gorodenkoff / Shutterstock. The University of Cambridge in the UK ...

Scientists offer hope for ultra-rare disorder that has plagued the north of England Neuroferritinopathy is an incurable brain disorder with no treatment ...

What is Neuroferritinopathy? Neuroferritinopathy is a rare genetic disorder characterized by abnormal iron accumulation in specific regions of the brain, particularly the basal ganglia.