The largest study of its kind into childhood developmental disorders has discovered that jumping genes cause genetic changes in some patients with undiagnosed neurodevelopmental diseases. The research has provided genetic diagnoses for three children enrolled in the Deciphering Developmental Disorders project, which will help the families access support and understand the disease risks for any future children.

In a world first, scientists have created the human developmental liver cell atlas that provides crucial insights into how the blood and immune systems develop in the foetus. It maps changes in the cellular landscape of the developing liver between the first and second trimesters of pregnancy, including how stem cells from the liver seed other tissues to support the high demand for oxygen needed for growth.
 

Scientists have identified new sub-types of cells that, when they interact, accelerate the scarring process in diseased livers.

Dr Mathew Garnett has received one of the first Excellence Awards given by the National Cancer Research Institute (NCRI). The Innovation Award highlights the work of Dr Garnett and his team in producing hundreds of patient-derived 3D organoid cultures as a community resource to accelerate cancer research.

The first cell atlas of the human kidney’s immune system has been created after scientists mapped nearly 70,000 individual kidney cells from early life and adults. Researchers generated the atlas and used it to map immune cells in the kidney. This shows for the first time how the kidney’s immune system develops during early life, and strengthens after birth and as we mature into adults, with implications for tackling kidney disease and transplant rejection

Scientists are one step closer to discovering the causes of immune diseases such as asthma, multiple sclerosis and arthritis. Research from the Wellcome Sanger Institute, GSK and Biogen, under the Open Targets initiative, has shown that thousands of differences in DNA between individuals, associated with immune diseases, are linked with the switching-on of a specific subtype of immune cells.

The first extensively drug-resistant (XDR) strains of Salmonella Typhimurium, a pathogen which is responsible for millions of bloodstream infections per year in sub-Saharan Africa, have been identified in the Democratic Republic of Congo (DRC). Drug-resistance has increased in successive groups of S. Typhimurium over time. These new strains are resistant to all but one of the commonly available drugs in the DRC, with one sample showing reduced susceptibility to this final antibiotic.

This largest ever study of neonatal microbiomes revealed that the microbiome of vaginally delivered newborns did not come from the mother’s vaginal bacteria, but from the mother’s gut. In contrast, babies born via caesarean section tended to have more bacteria associated with hospital environments in their guts.

In a major advance for public health and for the UK’s global leadership in genomics, a £200m project involving the government, charity, researchers and four leading pharmaceutical companies, was announced today (11 September). The Whole Genome Sequencing (WGS) project will become a game-changing resource accessible to the global scientific community to understand, diagnose, treat and prevent life-changing diseases such as cancer and dementia.

Better conservation and management of fish stocks is on the horizon, after the completion of the brown trout reference genome by scientists at the Wellcome Sanger Institute and their collaborators. The genome will help settle a longstanding debate about whether the physically-varied brown trout is actually a single species or several, and give insights into their ability to quickly adapt to multiple environments.