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.

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?

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
Drawing a family history

10 things to consider when offering a genomic test

Guest author Professor Frances Flinter explains 10 of the most important considerations for professionals and patients

Book review: My DNA Diary: Sickle Cell Anaemia

In her latest book Lisa Mullan explains the genetic basis of sickle cell disease in an entertaining way for older children and adults

Genomics in nursing: making a difference to patients

As part of this year’s #GenomicsConversation, guest author Leanne LeRiche shares her family’s experience of genomic testing, and the vital role that nurses play

What is whole exome sequencing?

Following the recent NHS announcement that WES will be used for critically ill babies and children, we explore what it is and the benefits it could bring

Genomics: combating coronavirus

In the second of two articles focusing on the recent coronavirus outbreak, we explore how genomics is being put to use in diagnosis and treatment

What can genomics tell us about the coronavirus?

As the government declares the coronavirus "a serious and imminent threat", we examine what genomic sequencing has revealed so far about 2019-nCoV

Whole genome sequencing drives progress in cancer

A new study into metastatic cancers highlights the significant potential for WGS in deepening understanding of the disease and improving treatment options

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

2020 vision: genomic predictions for the year ahead

Three wise women and men ponder the question of what might be in store in the world of genomics this year