Blog articles

Inversions explained

We dive into inversions, how they impact on health and what new research has revealed about their role in the genome
Lists of genomic bases: A, T, G and C

Repeat after me: what are repeat expansion disorders?

We learn how repeating sequences in our DNA can impact on health and how genome sequencing can make a diagnostic difference
Render of a DNA helix

BRCA: beyond breast cancer

New evidence shows that BRCA variants may increase the risk of stomach and pancreatic cancers in both men and women

100,000 Genomes Project 2021 update: rare disease

How has rare disease diagnosis and treatment improved in light of data gathered from the 100,000 Genomes Project? Find out in the second part of our series…
Interpretation of genomic data surrounded by circular screens

100,000 Genomes Project 2021 update: cancer

In the first instalment of a two-part series, we look at how the 100,000 Genomes Project continues to impact cancer care

Diagnosing mitochondrial conditions: a WGS breakthrough

Mitochondrial conditions can be difficult to diagnose – but why, and how can genomic technology help?
Crowd of people making the shape of two kidneys viewed from above

Polycystic kidney disease and genomic testing

We explore genomics’ role in the cause, diagnosis and treatment of a complex kidney condition
Red blood cells in bloodstream

NICE approves RNAi therapy for porphyria

This week, we look at the latest gene silencing treatment approved by NICE – this time for an acute form of porphyria

World-first study shows WGS improves diagnostic journey

Impressive results make the case for the adoption of whole genome sequencing as "the genetic test of choice for rare disease patients"

News articles

Genomics course for nurses and midwives: funded places now available

Nurses and midwives keen to learn about genomics can apply to join this popular introductory course delivered online by the University of the West of England
A pile of folded newspapers

GeNotes featured in The Times

Our upcoming ‘just-in-time' educational resource hits the news on Rare Disease Day

Taking action on Rare Disease Day 2022

The Genomics Education Programme releases new awareness-raising resources and supports the launch of a new action plan for rare disease in England