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Patient Perspectives: Nina Knight – Mother, Advocate and Chair of Acrodysostosis Support & Research

Nina Knight is a mother, advocate and Chair of the Acrodysostosis Support & Research Charity. Nina’s daughter, Lily, was diagnosed […]

Patient Perspectives: Daniel Lewi, Founder and CEO, CATS Foundation

Daniel Lewi is the Founder and CEO of the Cure and Action for Tay-Sachs (CATS) Foundation, which supports children and […]

Down the Rabbit Hole: Genetics and Obesity – Giles Yeo

Giles Yeo is a Principal Research Associate at MRC Metabolic Diseases Unit and the Scientific Director of the Genomics/Transcriptomics Core […]

The promise of glioma detection using blood plasma and urine samples

Researchers have developed two novel methods to detect a brain tumour (glioma) using cell-free DNA in the blood plasma and […]

Differential DNA methylation contributes to risk of multiple sclerosis

A recent study has discovered differentially methylated genomic regions harbouring 4 loci associated with risk of multiple sclerosis. Multiple sclerosis […]

Cancer Genomics Online – July 2021 Series

Genomics has already helped us understand the mechanisms of cancer evolution and metastasis. It is also having an impact on […]

Base editor treats sickle cell disease in mice

A team led by researchers at the Broad Institute and St. Jude Children’s Research Hospital has now demonstrated that a […]

Rare VEXAS syndrome is more common than originally thought

Researchers at the University of Leeds have found that a rare disease first discovered in 2020 – VEXAS syndrome – […]

A well camouflaged zebra

For my undergraduate research project, I studied a rare neurological disease known as Landau-Kleffner Syndrome. It was then that I […]

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 […]