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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 […]

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 […]

Round-up: COVID-19 February 2021 (Part Two)

Your latest round-up of the most recent news and research surrounding COVID-19 from the last fortnight. Statistics At the time of writing, […]

20 Years since the Human Genome Project: What comes next?

The Human Genome Project Published 20 years ago, the first drafts of the human genome opened the doors to a […]

Spinal fluid detects Alzheimer’s inflammation

Recent findings suggest that people who carry the gene variant associated with an increased risk of developing Alzheimer’s disease also […]

Random DNA change reverses rare immunodeficiency

Researchers at the Garvan Institute of Medical Research have found three patients with a severe genetic immunodeficiency disorder that have […]

First Japanese reference genome

Researchers at Tohoku University have now completed and released the first ever Japanese reference genome (JG1). Human genome Since its […]

What are the implications of solving the ‘protein folding problem’ for genomics?

At the Festival of Genomics and Biodata 2021 we brought together four of the brightest minds in the field of […]

Rare neurodevelopmental disorder associated with SATB1 dysfunction

A recent study has reported on three classes of mutations within the gene SATB1 which result in three variations of […]

Genomic Sequencing to Explain New Rare Diseases

Determining the genetic basis of rare diseases is important for counselling and for developing our understanding of disease pathogenesis. While […]