The Deciphering Developmental Disorders study has discovered that only a small fraction of rare, undiagnosed developmental disorders in the British Isles are caused by recessive genes. Researchers from the Wellcome Sanger Institute estimated only 5 per cent of the patients had inherited a disease-causing gene mutation from both parents, far fewer than previously thought.

The largest genomic study of parasitic worms to date identified hundreds of thousands of new genes and predicted many new potential drug targets and drugs. Research from the Wellcome Sanger Institute and collaborators will help scientists understand how these parasites invade, evade the immune system and cause disease. Reported in Nature Genetics today (5 November), the study could lead to new de-worming treatments to help prevent and treat diseases caused by parasitic worms worldwide.

The Earth BioGenome Project (EBP), a global effort to sequence the genetic code, or genomes, of all 1.5 million known animal, plant, protozoan and fungal species on Earth, officially launched on 1 November) as key scientific partners and funders from around the globe gathered in London, UK to discuss progress in organising and funding the project

The Sanger Institute will serve as the genomics hub in the UK and will collaborate with the Natural History Museum in London, Royal Botanic Gardens, Kew, Earlham Institute, Edinburgh Genomics, University of Edinburgh, EMBL-EBI and others in sample collection, DNA sequencing, assembling and annotating genomes and storing the data

The report, conducted by Thomas Kibling, at the respected law firm Matrix Chambers, has now been published (Tuesday 30 October).

Researchers studied the gene activity from more than a quarter of a million single cells to show how the innate immune response varies between cells and species. The study in Nature looked in unprecedented detail at the genes activated in response to a pathogen invasion, to chart the evolution of antiviral and antibacterial immunity across six mammalian species.

The first comprehensive summary of all genes known to be involved in cancer describes how they function in terms of ten Hallmarks of Cancer. Reported in Nature Reviews Cancer, the Cancer Gene Census catalogues over 700 genes, to help scientists understand the causes of cancers, find drug targets and design treatments.

Open Targets announced today (29 October) that Sanofi has joined its pioneering public-private collaboration to transform drug discovery by improving the success rate for developing new medicines. Sanofi’s expertise in immunology, oncology, neurosciences and diabetes will complement the offerings of the current partners GSK, Biogen, Takeda, Celgene, the Wellcome Sanger Institute and the EMBL’s European Bioinformatics Institute (EMBL-EBI).

By the time we reach middle age, more than half of the oesophagus in healthy people has been taken over by cells carrying mutations in cancer genes, scientists have uncovered. By studying normal oesophagus tissue, scientists at the Wellcome Sanger Institute, MRC Cancer Unit, University of Cambridge and their collaborators uncovered a hidden world of mutations and evolution in our tissues as we age .

Working closely with consultant NHS clinicians in all 24 Regional Genetic Centres across the UK and Ireland, the Deciphering Developmental Disorders researchers have sequenced the DNA of the 33,500 parents and children involved in the study. To date, the project has found diagnoses for over 4,500 children.