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Common and rare variation both contribute to the onset of retinal disease

A study published in PLOS Genetics has revealed newly identified risk loci that are associated with rare eye conditions. Using […]

A small peptide molecule prevents the progression of neurodegenerative diseases

A recent study, published in Science Translational Medicine, describes a novel way to prevent the death of nerve cells in […]

AI/ML approach identifies risk factors for cardiovascular diseases

A team of researchers from Rutgers University have used artificial intelligence and machine learning (AI/ML) to identify risk genes for […]

Genomics study uses UK Biobank Data to reveal new genetic associations for rare diseases

Written by Skel Yeung Rare diseases affect up to 10% of the global population. Yet the majority of rare diseases […]

Twin studies have disentangled the common genes in post-traumatic stress disorder (PTSD) and migraine

A recent study of monozygotic twins revealed certain genes and pathways that overlap between post-traumatic stress disorder (PTSD) and migraine, […]

WES uncovers mutations for rare paediatric diseases

Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases. Rare genetic paediatric diseases […]

UK launches new rare diseases strategy

The UK has launched a new framework which aims to raise awareness of rare diseases, speed up diagnosis and improve […]

Underdiagnosis of monogenic heart and vascular diseases

Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]

“Usually, you’re relatively alone in your rare disease community” – Interview with Shelley Simmonds, Patient Advocate for rare diseases

Shelley Simmonds is a patient advocate whose son has Duchenne muscular dystrophy. Duchenne causes muscle weakening and wasting and is […]

World of Genomics: Estonia

‘World of Genomics: Estonia’ – Original article written by Shannon Gunn, 2021. Updated by Lyndsey Fletcher, April 2024. For the […]