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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.
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 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.
Founded in 2018 as a DNA extraction chemistry company, Dutch company MolGen entered the market operating within the agricultural sector. At first, the company’s founders, Maarten de Groot, Wim van Haeringen and Niels Kruize, focused solely on this one industry, mainly developing and marketing advanced bulk chemistry kits for DNA/RNA extraction. These testing products and solutions successfully…
DNA / RNA extraction technology, system, products and kits for human and animal diagnostics, agriculture, aquaculture, pharma and biotech solutions provider MolGen B.V., announces the recent opening of its UK office. The new office is located at 6th Floor, South Quay Building, 189 Marsh Wall, London, E14 9SH. This expansion will enable the company to meet the rapidly increasing demand for…
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…
An innovative collaboration has been formed in the UK between academic researchers and industry to develop a rapid integrated liquid biopsy platform for early detection of recurrent breast cancer. Breast cancer specialists Professor Charles Coombes, who is Professor of Medical Oncology at Imperial College London (ICL), and Professor Jacqui Shaw, Head of the Department of Genetics and Genome…
By analysing secondary acute myeloid leukaemias, researchers at the Institute for Research in Biomedicine (IRB) Barcelona have detected mutations caused by platinum-based chemotherapies in cells that were healthy at the time of treatment. Treatment with chemotherapies influences the development of blood cells, favouring clonal hematopoiesis from cells with pre-existing mutations. The study has…
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 new low-cost method targeting genetic mutations often missed by existing diagnostic approaches has been developed. Researchers at Virginia Commonwealth University (VCU) in the United States noted that most rearrangement mutations implicated in cancer and neurological diseases fall between what can be detected by DNA sequence reads and optical microscopy methods. The new technique combines…
Over the past decade, the CRISPR-Cas9 gene editing system has revolutionized genetic engineering, allowing scientists to make targeted changes to organisms’ DNA. While the system could potentially be useful in treating a variety of diseases, CRISPR-Cas9 editing involves cutting DNA strands, leading to permanent changes to the cell’s genetic material. Now, in a paper published online in Cell,…
DNA errors in the cell’s energy ‘factories’ increases the chances of survival for people with bowel cancer, also known as colorectal cancer, according to a new study. Studying how DNA errors (mutations) can drive cancer development, as well as help it adapt and evolve, has been a key focus of cancer research. But much of that focus has been on DNA found in the cell’s nucleus. Experts say…
International genomics research led by the University of Leicester has used artificial intelligence (AI) to study an aggressive form of cancer, which could improve patient outcomes. Mesothelioma is caused by breathing asbestos particles and most commonly occurs in the linings of the lungs or abdomen. Currently, only seven per cent of people survive five years after diagnosis, with a prognosis…
Researchers at the University of Maryland School of Medicine (UMSOM) and their colleagues published a new analysis from genetic sequencing data of more than 53,000 individuals, primarily from minority populations. The early analysis, part of a large-scale program funded by the National Heart, Lung, and Blood Institute, examines one of the largest and most diverse data sets of high-quality whole…
One of the most vexing aspects of the Covid-19 pandemic is doctors’ inability to predict which newly hospitalized patients will go on to develop severe disease, including complications that require the insertion of a breathing tube, kidney dialysis or other intensive care. Knowledge of a patient’s age and underlying medical conditions can help predict such outcomes, but there are still…
Cold Spring Harbor Laboratory (CSHL) scientists developed the world’s first mobile genome sequence analyzer, a new iPhone app called iGenomics. By pairing an iPhone with a handheld DNA sequencer, users can create a mobile genetics laboratory, reminiscent of the “tricorder” featured in Star Trek.
For the first time, an international research alliance has observed the RNA folding structures of the SARS-CoV2 genome with which the virus controls the infection process. This could not only lay the foundation for the targeted development of novel drugs for treating Covid-19, but also for occurrences of infection with new corona viruses that may develop in the future.
Launched in 2011, the Pan-Cancer Project, involved more than 1,300 scientists and clinicians in 37 countries, and analysed more than 2,600 genomes of 38 tumour types. Discovery: The first indications of cancer development can be found in genes at a very early stage, which triggers new opportunities for treatment.
Researchers at the University of Helsinki and the Dana-Farber Cancer Institute have identified the mechanism behind bone marrow failure developing in children that suffer from Fanconi anaemia. The findings will help to develop new therapies for the disorder.
The Royal Swedish Academy of Sciences has decided to award the Nobel Prize in Chemistry 2020 to Emmanuelle Charpentier from the Max Planck Unit for the Science of Pathogens, Berlin, Germany, and Jennifer A. Doudna from the University of California, Berkeley, USA, “for the development of a method for genome editing”, more commonly known as the 'gene scissors' CRISPR/Cas9.
Research and innovation hub in nanoelectronics and digital technologies, imec, announced elPrep5, the newest version of its software platform for DNA analysis. Obtaining identical results, elPrep5 is eight to 16 times faster than the genome analysis toolkit (GATK) — the widely-accepted standard reference. The imec platform encompasses the full analysis pipeline from data preparation to variant…
Four stranded DNA structures – known as G-quadruplexes – have been shown to play a role in certain types of breast cancer for the first time, providing a potential new target for personalised medicine, say scientists at the University of Cambridge. In 1953, Cambridge researchers Francis Crick and James Watson co-authored a study published in the journal Nature which showed that DNA in our…
Scientists from the German Cancer Research Center (DKFZ) and the Universities of Cambridge and Edinburgh have been studying the evolution of tumors following chemical damage. They discovered that the DNA lesions caused by the chemical are not eliminated immediately, but are passed on unrepaired over several rounds of cell division. This "lesion segregation" can drive unexpectedly…
Roswell Biotechnologies, Inc., a manufacturer of molecular electronics sensor chips, and imec, a research and innovation hub in nanoelectronics and digital technologies, announced a partnership to develop the first commercially available molecular electronics biosensor chips. These chips are the brains behind Roswell Technologies' new platform for DNA sequencing, to support precision medicine,…
Using machine learning, a team of Western computer scientists and biologists have identified an underlying genomic signature for 29 different COVID-19 DNA sequences. This new data discovery tool will allow researchers to quickly and easily classify a deadly virus like COVID-19 in just minutes – a process and pace of high importance for strategic planning and mobilizing medical needs during a…
Sepsis—the body's own immune response gone against it—is a major health problem worldwide. It is basically a "hyper" immune response by the body to infection or injury, and is characterized by hyperinflammation, immune system paralysis, cell death, liver and kidney failure, blood clots, and even hemorrhage. An estimated 30 million people suffer from sepsis every year, of which 20%…