Blog articles

Young adult speaks to a group sitting in a circle

GEP fellow publishes new study

The benefits of involving young people in genome sequencing decision making are explored by GEP fellow Dr Celine Lewis in her recently published study

Genome UK: making the genomic dream a reality

The government has set out its vision for how the UK will harness the power and potential of genomics for the benefit of patients. Here are the top highlights

Newborn screening: the pros and cons of genome sequencing

Could genome sequencing replace the blood spot test? We review the potential benefits and drawbacks of a more direct approach to screening

Breakthrough in the battle against neurodegenerative disease

New genomic research could shed light on the cause of two life-limiting neurodegenerative conditions and provide targets for potential therapies and treatments

Mitochondrial disease: the genomics challenge

Mitochondrial diseases are overwhelmingly genetic in origin, so why are gene therapies so difficult to develop? We take a deep dive to find out more.

How NHS research is finding new ‘rare disease genes’

As whole genome sequencing becomes more accessible, our understanding of rare disease is advancing at speed. We look at the latest findings from two NHS studies.

What is NIPD?

Non-invasive prenatal diagnosis can provide vital information about a pregnancy, but when should the technique be used, and how does it differ from NIPT?

Genome editing trial suggests cure for blood diseases

Recent tests have established a potential cure for sickle cell disease and beta thalassaemia by using genome editing on bone marrow stem cells

The impact of Covid-19 on rare disease communities

Guest author Dr Christine Patch explains the challenges in supporting patients with rare disease during the pandemic, as well as the opportunities that may arise

News articles

New conditions factsheets

These handy factsheets are perfect for clinicians as an introduction to or a refresher on a range of genetic conditions

New genomics and counselling skills course

Funded learning opportunities are available for nurses on this new introductory online course