In this series, ‘Genomics 101’, we go back to basics and explore some of the most important topics in genomics. In this blog, ...

Researchers using data from the National Genomic Research Library (NGRL) have made major advances in understanding how changes in a single non-coding gene contribute to neurodevelopmental disorders ...

Multiple research groups have identified a new recessive neurodevelopmental disorder which is believed to be one of the most common genetic causes of severe childhood epilepsy. The pieces of research, ...

In 2019, the Empire State building in New York City was lit up for Rare Disease Day. The image of this infamous landmark illuminated in the Rare Disease Day colours inspired many people, and now, ...

User research means studying users to understand their specific needs, motivations and behaviours, so that services and products can be designed to meet them. It can involve methods such as interviews ...

Scientists analysing data from Genomics England’s National Genomic Research Library (NGRL) among other sources have uncovered five new genetic causes of retinitis pigmentosa (RP), an eye condition ...

Genomics England, the Sickle Cell Society, and the James Lind Alliance have co-produced a Priority Setting Partnership (PSP) for Sickle Cell and Genomics – resulting in 10 priorities for future ...

Genomics England’s Generation Study has now enrolled 25,000 babies - a major milestone in one of the world’s largest research studies of its kind to explore how whole genome sequencing could be used ...

A boy born with a rare form of eye cancer, usually diagnosed in very young children, is one of numerous babies born with rare conditions who are receiving earlier diagnoses and faster, lifechanging ...

‘Airlock’ is a secure gateway used for moving data into and out of the Genomics England Research Environment. This Research Environment, sometimes shortened to ‘RE’, hosts the National Genomic ...

New research published in Genetics in Medicine and led by Genomics England researchers sets out an effective framework for using genomic newborn screening to identify genetic changes linked to rare ...

In this series, we explore some important roles in the life sciences, and how their work impacts patients and families. A clinician is a healthcare professional who provides direct care to patients, ...