Blog articles


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

What are copy number variants?

Everyone has unique variants in their genome - and many are harmless - but which types can have an impact on our health and how do they occur?

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.

Rapid exome sequencing: a look inside the lab

Clinical scientist Dr Julia Baptista explains what – and who – is involved when the NHS sequences the DNA from all an individual’s 20,000 protein-coding genes

Direct-to-consumer testing: a clinician's guide

In the second of our articles this week on DTC genetic tests, guest author Dr Rachel Horton explains some of the common pitfalls and the key points clinicians need to know

Consumer genetic testing: expectation and reality

In the first of two articles on the subject, we explore new research that shines a light on the pitfalls of our new favourite pastime

Obesity: is it in our genes?

A complex and serious issue, obesity is the result of a combination of factors; but at least some our destiny lies in our genomes

Do our genes govern our fate?

A ‘faulty’ gene can result in different outcomes for different people – penetrance and expressivity influence the impact of our genetic code

Your invaluable genome

Genomic data is the currency of a new era of medicine that promises incredible advances. Here, bioinformatician Nana Mensah explains why

Day in the life: consultant in clinical genetics

In this third piece in our series looking at genomics careers, Dr Andrew Douglas describes a profession at the cutting edge of healthcare

Genomics in 2018: 3 key predictions

We asked three wise men and women to tell us what they think 2018 will bring for genomics in healthcare

The challenge of variant classification

Exploring the complex issue of interpretation - can updated standards and guidelines help achieve increased clarity and consistency?