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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: Iceland

Known for volcanic landscapes, the northern lights, Nordic history and Game of Thrones filming, for the latest in our World […]

Moving Polygenic Risk Scores into the Clinic

Genetic testing is widely used to diagnose monogenic diseases that are caused by mutations in a single gene, such as […]

World of Genomics: Estonia

Nature lovers will appreciate this one! For the latest World of Genomics, we head over to Estonia – famous for […]

A Spotlight On: Polygenic Embryo Screening – Dr. Todd Lencz, Professor at the Feinstein Institutes for Medical Research

Dr Todd Lencz is a Professor at the Feinstein Institutes for Medical Research in Manhasset, New York. Lencz’s team were […]