Updates on key developments in genomics

3D render of a DNA helix

What is genomic imprinting?

We explore one type of epigenetic modification, its function in our genome and the rare conditions that have been linked to it
3D render of a chromosome with DNA helix exposed inside

Filling the gaps: sequencing a chromosome

A human chromosome has been sequenced in its entirety for the first time, but why is this breakthrough important for the future of our reference genome?
Illustration of fetus and DNA helix

Prenatal genomics - an overview

What role can genomics play before a baby is born? We break down the screening and testing options available now – from traditional methods to new technologies
3D render of leukaemia cell

Richter’s syndrome study published

A new study by GEP fellow Niamh Appleby has found potential pathways and targets for the treatment of Richter’s syndrome – an aggressive form of adult leukaemia

Genomics and the new Covid-19 variant

What do we know about the new strain of coronavirus sweeping across the UK? And how did genomics help us get there?

Key genomic technologies of 2020: treatments old and new

In the second part of our review of the year’s genomic highlights, we look at the breakthroughs that are helping patients with rare disease and cancer

Key genomic technologies of 2020: fighting Covid-19

In the first of two articles reflecting on this year, we look at how genomics became central to tackling an unprecedented global pandemic

Genetics and genomics on screen

As many people slow down for a festive break, Dr Jonathan Roberts considers presentations of genomics in five popular films
Mother holding the hand of her newborn baby

First polygenic cause found for neonatal diabetes

A new study has found the first ever polygenic cause for diabetes in children younger than six months of age
Render of Covid-19 virus cells and DNA helices

Researchers find ‘hidden’ coronavirus gene

A newly discovered gene within the genome of the SARS-CoV-2 virus could offer clues about its origins and a possible target for treatment
Fetus with DNA umbilical cord

‘New’ de novo variants linked to developmental disorders

How do gene variants affect our health? We look at a recent study that has newly identified 28 genes associated with developmental disorders
Render of inflamed tissue in the body

Genomics first: identifying inflammatory disease

Scientists have discovered a new rare and deadly inflammatory disease in men, but how did genomics lead them to it?
genes and mental illness

Keeping genes in mind: genomics and mental illness

UCL Genetics Institute honorary professor and psychiatrist David Curtis explains the challenge of understanding mental illnesses like schizophrenia, and how recent advances in genomics could have a real impact on clinical practice

Covid-19: what’s in the genes?

We take a look at the latest developments in our understanding of the role of the human genome when it comes to disease severity
DNA being transcribed to mRNA by the RNA polymerase, and several enzymes within the nucleus of a cell

RNA-based therapies: two types explained

What are RNA therapies and how are they used? We compare the two licensed types – antisense and RNA interference – to find out more
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
Doctor about to begin operation on a pregnant woman in surgery

Genomics in practice: obstetrics and gynaecology

Dr Edward Morris explains the important role played by genomics in the practice of obstetrics and gynaecology - and its impact on patient care

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

Genomic approach predicts risk of oesophageal cancer

Can we use genomics to accurately predict the development of cancer in those with precursor conditions? We look at newly published results from a 15-year study to find out

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