Genetics / genomics

Israeli researchers have developed a drug that is effective in treating a rare genetic muscle disease. The research team from Ben-Gurion University of the Negev and Soroka Medical Center discovered the severe hereditary muscle disease that develops around the age of 40 years, progressing to complete immobility of the limbs and the chest muscles. The […]

UK researchers, from the Wellcome Sanger Institute and collaborators, have used human stem cells and neurons to investigate what features influence how well CRISPR activation works for different sets of genes. Published in Molecular Cell, the study explains the rules determining to what extent genes respond to CRISPR activation, ensuring that future research can be […]

Researchers have identified two previously unknown genes linked to schizophrenia and newly implicated a third gene as carrying risk for both schizophrenia and autism. Led by the Icahn School of Medicine at Mount Sinai, the multi-centre study further demonstrated that the schizophrenia risk conferred by these rare damaging variants is conserved across ethnicities. The study […]

Researchers at the University of East Anglia have developed a new drug that works against all of the main types of primary bone cancer. The study shows how a breakthrough drug called CADD522 blocks a gene associated with driving the cancer’s spread in mice implanted with human bone cancer. The drug increases survival rates by […]

GenSight Biologics has revealed pooled safety data from five clinical studies of lenadogene nolparvovec (Lumevoq), the largest cohort of ND4-LHON (Leber hereditary optic neuropathy) patients studied after gene therapy treatment. The data confirms the good overall safety profile of the product in terms of systemic and ocular tolerability, humoral and cellular immune response. The results […]

A new paper has solved the 20-year mystery of how epigenetic modifications act as traffic lights to control gene expression and could ultimately speed up the development of a new class of epigenetic cancer drugs.  Epigenetics is still largely unexplored and referred to as the ‘dark matter’ of the genome. But the new findings answer […]

The Tecan Group and Oxford Nanopore Technologies will collaborate to drive easier high throughput nanopore library preparation in an automated, hands-free fashion.   The aim of the partnership is a fully automated workflow for Oxford Nanopore’s Ligation Sequencing Kit XL V14 protocol (LSK114) with Tecan’s DreamPrep NGS solutions.  The LSK114 protocol allows for any fragment length […]

Researchers have identified that a gene associated with an increased risk of Parkinson’s Disease also contributes to a build-up of cell debris in the brain. Dr Adekunle Bademosi from The Queensland Brain Institute said the discovery could change the focus of Parkinson’s Disease treatment. Without the process, called autophagy, toxic debris builds up and neurons […]

An investigational gene therapy for Sanfilippo syndrome – which leads to a form of childhood dementia – has shown promising early results in a proof-of-concept study.  The study found that four out of five patients diagnosed with Sanfilippo have continued to gain cognitive skills in line with development in healthy children after being given the […]

Janssen has revealed updated results from the Phase III MAGNITUDE study, which show that a combination therapy including niraparib, a poly (ADP-ribose) polymerase (PARP) inhibitor, slowed prostate cancer progression.  The drug was investigated in combination with abiraterone acetate plus prednisone (AAP) in patients with metastatic castration-resistant prostate cancer (mCRPC) with or without specific homologous recombination […]