Nina Knight is a mother, advocate and Chair of the Acrodysostosis Support & Research Charity. Nina’s daughter, Lily, was diagnosed […]
Daniel Lewi is the Founder and CEO of the Cure and Action for Tay-Sachs (CATS) Foundation, which supports children and […]
Giles Yeo is a Principal Research Associate at MRC Metabolic Diseases Unit and the Scientific Director of the Genomics/Transcriptomics Core […]
Researchers have developed two novel methods to detect a brain tumour (glioma) using cell-free DNA in the blood plasma and […]
A recent study has discovered differentially methylated genomic regions harbouring 4 loci associated with risk of multiple sclerosis. Multiple sclerosis […]
Genomics has already helped us understand the mechanisms of cancer evolution and metastasis. It is also having an impact on […]
A team led by researchers at the Broad Institute and St. Jude Children’s Research Hospital has now demonstrated that a […]
Researchers at the University of Leeds have found that a rare disease first discovered in 2020 – VEXAS syndrome – […]
For my undergraduate research project, I studied a rare neurological disease known as Landau-Kleffner Syndrome. It was then that I […]
In Europe, a rare disease is defined rare when it affects fewer than 1 in 2,000 people. However, this definition […]
