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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 […]

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 […]

World of Genomics: France

Home to some of the greatest landmarks, gourmet food and wine, the backdrop to several incredible musicals, and of course, […]

Exome variant discrepancies between reference genomes

Researchers at the Human Genome Sequencing Center at Baylor College of Medicine have identified genetic variant discrepancies between two human […]

Mitochondrial DNA genotype-phenotype interactions

A recent study has found that genetic variants in mitochondrial DNA could increase the risk of developing several common diseases, […]

Guidelines for reporting polygenic risk score

Researchers from NIH have developed a 22-item framework, published in Nature, that has identified the minimal polygenic risk score-related information […]