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Rare cases of high genetic mutation linked to fathers’ chemotherapy

A study published in Nature by scientists from the Wellcome Sanger Institute and elsewhere, indicates that some rare cases of […]

Patient Perspectives: Kay Parkinson, Founder and Company Secretary, Rare Disease Nurse Network

Although Kay Parkinson is officially retired, she volunteers at the Rare Disease Nurse Network where she is the Founder and […]

Rare variants involved in eczema susceptibility

A recent meta-analysis has identified rare exonic variants that play a role in eczema susceptibility. Eczema Eczema is a chronic […]

Patient Perspectives: David Edward Rose – Ultra-Rare Disease Patient Speaker

David Edward Rose works for a rare disease magazine called Rare Revolution Magazine. He is also an ultra-rare disease patient […]

Patient Perspectives: Vaila Morrison – Architect, Mother and Rare Disease Advocate (KAT6A syndrome)

Vaila Morrison is an architect focused on sustainable and inclusive design as well as a mother to a child with […]

Researchers have revealed novel ultra-rare risk genes for autism

Researchers have identified ultra-rare, likely gene-disruptive variants unique to autism families, revealing 28 novel candidate risk genes. The genetics of […]

The rarest of the rare

In Europe, a rare disease is defined rare when it affects fewer than 1 in 2,000 people. However, this definition […]

Random DNA change reverses rare immunodeficiency

Researchers at the Garvan Institute of Medical Research have found three patients with a severe genetic immunodeficiency disorder that have […]

Rare neurodevelopmental disorder associated with SATB1 dysfunction

A recent study has reported on three classes of mutations within the gene SATB1 which result in three variations of […]

UVR causes rare type of eye cancer

According to research funded by Cancer Research UK and others, ultraviolet radiation (UVR) has been found to cause a rare […]