
News • Genome instability
Gene editing via CRISPR/Cas9 can lead to cell toxicity
Researchers identify critical spots on the genome where gene editing could cause an unwanted response, and they provide recommendations for safer approaches.
Researchers identify critical spots on the genome where gene editing could cause an unwanted response, and they provide recommendations for safer approaches.
Cardiomyopathy is not a uniform disease. Rather, individual genetic defects lead to heart failure in different ways, an international consortium reports.
A new approach makes use of natural DNA repair machinery and provides a foundation for novel gene therapy strategies with the potential to cure a large spectrum of genetic diseases.
Blockchain is a digital technology that allows a secure and decentralized record of transactions. Now, researchers leveraged blockchain to give individuals control of their own genomes.
Around one in 500 men could be carrying an extra X or Y chromosome – most of them unaware – putting them at increased risk of diseases such as type 2 diabetes, atherosclerosis and thrombosis.
Computational approaches are being applied on enormous amounts of data from sequencing technologies to develop tools to help clinicians manage cancer more effectively.
A method for delivering genetic material to the body that has proven useful in Covid-19 vaccination is now being tested as a way to repair damaged heart muscle after a heart attack.
Scientists use miniature brain models to understand how a mutated gene affects brain development.
An ECRC research team has introduced CRISPR-Cas9 into human muscle stem cells for the first time using mRNA, thus discovering a method suitable for therapeutic applications.
A DNA test has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.
A new study has analyzed over 3000 proteins to identify which are causally linked to the development of severe Covid-19. This provides insight into potential new targets for treatment and prevention.
Annual MRI screenings starting at ages 30-35 may reduce breast-cancer mortality by more than 50% among women who carry certain genetic changes in three genes, according to a new modeling analysis.
Physicists from Leipzig University have developed gene expression tests to examine whether additional chemotherapy is necessary and really effective after breast cancer surgery.
Faulty versions of the BRCA1 and BRCA2 genes are well known to increase the risk of breast and ovarian cancer. Now, they have been linked to several other cancers, including those that affect men.
A worldwide consortium aims to equip researchers in low- and middle-income countries (LMICs) with cheap and accessible methods for sequencing large collections of bacterial pathogens.
Genomics England, a government owned company, recently announced a pilot programme of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns. But should every newborn baby have their whole genome sequenced? Experts debate the issue in The BMJ. Extensive clinical evidence has shown that screening for genetic diseases saves lives, and research has shown that it…
Whole genome sequencing (WGS) from a single blood test picks up 31% more cases of rare genetic disorders than standard tests, shortening the ‘diagnostic odyssey’ that affected families experience, and providing huge opportunities for future research.
Together with Imperial College London (‘Imperial’), molecular diagnostics company DNAe has been awarded a UK Knowledge Transfer Partnership (KTP) by Innovate UK to support development of its next generation sequencing (NGS)-based diagnostic platform for use in cancer monitoring. The KTP program connects innovative businesses with academic experts who can help them deliver their ideas. This…
Using cutting-edge genomic sequencing techniques, researchers at the University of Oxford have identified almost all the genomic variation that gives people resistance to 13 of the most common tuberculosis (TB) drug treatments. The Comprehensive Resistance Prediction for Tuberculosis International Consortium (CRyPTIC) research project has collected the largest ever global dataset of clinical M.…
The Covid-19 crisis that gripped England between September 2020 and June 2021 can be thought of as a series of overlapping epidemics, rather than a single event, say researchers at the Wellcome Sanger Institute, EMBL's European Bioinformatics Institute (EMBL-EBI) and the German Cancer Research Center.
A new mechanism that stops the progression of Huntington’s disease in cells has been identified by scientists at the University of Cambridge and University College London (UCL), as part of their research groups at the UK Dementia Research Institute. Researchers say the breakthrough study, published in Cell Reports, could lead to much needed therapies for the rare genetic disease, which is…
A new paper co-written by a University of Illinois Urbana-Champaign scholar who studies the legal and ethical implications of advanced biotechnologies outlines an unexplored tool to regulate the medically and ethically dubious practice of heritable human-genome editing: patent law.
The EU’s General Data Protection Regulation (GDPR) has created a great deal of uncertainty about how key requirements should be interpreted. This means that collaborators in international genetic research projects do not always agree on fundamental issues such as whether they are processing personal data, consent requirements under the GDPR and on what basis genetic data can be transferred…
A solid diagnosis has always been the first step on any patient’s journey to health. However, diagnostic categories are necessarily oversimplifications. In the last decades, medical professionals and scientists have begun to uncover the true variability in patients’ physiological and biochemical make-up that is the principal cause for individual variations in the way diseases present…
A research team led by scientists in the labs of Jennifer Doudna, David Savage and Patrick Hsu at the University of California, Berkeley, is aiming to develop a rapid Covid-19 diagnostic test that is much faster and easier to deploy than qRT-PCR. It has now combined two different types of CRISPR enzymes to create an assay that can detect small amounts of viral RNA in less than an hour. Doudna…