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.
Genetics
News • Cardiomyopathy research
Genetic defects can cause heart failure
Cardiomyopathy is not a uniform disease. Rather, individual genetic defects lead to heart failure in different ways, an international consortium reports.
News • Novel disease therapies
"Soft” CRISPR may offer fix for genetic defects
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.
News • Not just for bitcoin
Blockchain can secure and store genomes
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.
News • Genetics research
Chromosomes: How the 'extra X factor' is putting men at risk
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.
Article • Clinical computational tools
Managing cancer more effectively
Computational approaches are being applied on enormous amounts of data from sequencing technologies to develop tools to help clinicians manage cancer more effectively.
News • Cardiology research
Covid-19 vaccine technique could also save tissue after heart attack
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.
News • Artificial brains
Brain organoids help understand autism
Scientists use miniature brain models to understand how a mutated gene affects brain development.
News • Genetic dystrophy repair
Using mRNA to improve muscle strength
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.
News • From decades to days
Single test for over 50 genetic diseases cuts diagnosis
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.
News • Causal link found
Does your blood group affect risk for severe Covid-19?
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.
News • Screening performance
MRI reduces breast cancer deaths in women with 3 risk genes
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.
News • Cancer therapy
Chemo after breast cancer surgery? Gene expression test to help decision
Physicists from Leipzig University have developed gene expression tests to examine whether additional chemotherapy is necessary and really effective after breast cancer surgery.
News • BRCA and prostate, pancreatic cancers
Faulty 'breast cancer gene' BRCA also dangerous for men
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.
News • Pathogen analysis
Unlocking epidemic prevention with affordable genome sequencing
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.
News • DNA analysis
Should all babies have their genome sequenced at birth?
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…
News • Whole genome sequencing
Rare disease diagnosis: the huge impact of WGS
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.
News • NGS-based diagnostics
Collaboration on early detection of recurrent breast cancer
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…
News • 'CRyPTIC' research
Global tuberculosis study identifies genetic causes of drug resistance
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.…
News • Genomic tracking
Retracing the Covid-19 pandemic in England
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.
News • Prevention of toxic DNA lesions
Promising mechanism to stop Huntington's progression
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…
News • CRISPR and co.
Patent law could curb unethical human-genome editing
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.
News • Regulatory issues
Genetic data privacy, the GDPR, and research needs: a delicate balance
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…
Article • Precision oncology
Personalized health and genomics: Minimizing collateral damage
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…
News • Genome editing
Using CRISPR to speed up Covid-19 testing
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…
