genetics

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G-quadruplexes

Quadruple DNA structures in breast cancer found

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…

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Neurodegeneration research

Developing a rapid drug-testing platform for Alzheimer’s

A gene has been discovered that can naturally suppress the signs of Alzheimer’s Disease in human brain cells, in research led by Queen Mary University of London. The scientists have also developed a new rapid drug-screening system for treatments that could potentially delay or prevent the disease. The main challenge in testing Alzheimer’s drugs in clinical trials is that participants need to…

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Reversing incurable cause for blindness

Macular degeneration: Gene therapy restores vision

Macular degeneration is one of the major reasons for visual impairment, round the globe, close to 200 million people are affected. It damages the photoreceptors in the retina, which lose their sensitivity to light. This can lead to impaired vision or even complete blindness. Scientists at the Institute of Molecular and Clinical Ophthalmology Basel (IOB) together with colleagues from the German…

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New gene therapy approach

Tumor-tropic technology for targeted cancer therapy

Toshiba Corporation and a team led by Professor Yozo Nakazawa at the Department of Pediatrics, Shinshu University, have together developed a “tumor-tropic liposome technology” for gene therapy. The technology uses unique, nano-sized biodegradable liposomes developed by Toshiba to accurately and efficiently deliver therapeutic genes to targeted cancer cells, and achieves safer gene delivery…

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Adapt and overcome

Coronavirus evolving: How SARS-CoV-2 mutations could delay vaccine development

A new analysis of the worldwide effort to sequence the coronavirus genome has revealed the scale of the genetic changes that are occurring in the virus known as SARS-CoV-2, as it spreads across the world. These changes have important implications for molecular diagnostics and potentially vaccine success. Led by the London School of Hygiene & Tropical Medicine, the research identified several…

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Coronavirus origins

Researchers crack COVID-19 genome signature

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…

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Amyloid beta regulation

CRISPR helps identify potential Alzheimer's-related protein

Experts at the University of Tokyo have identified a new protein in the pathway that leads to Alzheimer’s disease. Researchers used the “molecular scissors” of CRISPR/Cas9 to search for new genes related to the neurodegenerative disease. The exact causes of Alzheimer’s disease remain unknown, but one of the most well- supported theories focuses on a protein called amyloid beta.…

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Coronavirus mutations

Tracking COVID-19 with genetic ‘barcode’

Drexel University researchers have reported a method to quickly identify and label mutated versions of the virus that causes COVID-19. Their preliminary analysis, using information from a global database of genetic information gleaned from coronavirus testing, suggests that there are at least six to 10 slightly different versions of the virus infecting people in America, some of which are either…

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Medulloblastoma

New insights into deadly brain tumours in children

The causes of 40 percent of all cases of certain medulloblastoma – dangerous brain tumors affecting children – are hereditary. These are the findings of a recent genetic analysis carried out by scientists from the Hopp Children's Cancer Center (KiTZ), the European Molecular Biology Laboratory (EMBL) and numerous colleagues around the world, which have just been published in the scientific…

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COVID-19 status

Whole genome sequencing to map coronavirus spread

The Government and the UK’s Chief Scientific Adviser have backed the UK’s leading clinicians and scientists to map how COVID-19 spreads and behaves by using whole genome sequencing. Through a £20 million investment, the consortium will look for breakthroughs that help the UK respond to this and future pandemics, and save lives. COVID-19 Genomics UK Consortium - comprised of the NHS, Public…

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Integrated diagnostics

Radiologists, pathologists and geneticists gather around a digital table

Radiology, pathology, medical genetics and laboratory medicine under one roof: many hospitals are toying with the idea of ‘integrated diagnostics’ but it was the medical management at Geneva’s University Hospital that dared to take the first step and consolidate all these diagnostic disciplines in a single organisational unit: The Diagnostic Department. ‘Our long-term vision is a…

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Genomic insights into 2019-nCoV

New coronavirus: largest meta-analysis yet answers important questions

Scientists at the University of Bologna have conducted the largest analysis of coronavirus 2019-nCoV genomes sequenced so far. This analysis confirms that the virus originates in bats and shows a low variability: the virus heterogeneity is low. At the same time, researchers identified a hyper-variable genomic hotspot in the proteins of the virus responsible for the existence of two virus…

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Deadly virus

New test to identify and control Ebola variants

The situation is extraordinary: there have only ever been four declarations of public health emergencies of international concern in the past and now there are two at the same time. Whilst the risks associated with the novel coronavirus are still unclear, people in the Democratic Republic of the Congo are still battling with an outbreak of the deadly Ebola virus which has been ongoing since 2018…

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Blood coagulation

Treating hemophilia with gene therapy

Within the framework of an international study, Lund University and Skåne University Hospital have started treating patients with hemophilia with gene therapy, something that began in January this year. The hope is that the new treatment will significantly simplify everyday life for those with severe hemophilia. Hemophilia is a genetic disease where the body does not produce one of the clotting…

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Whole-genome sequencing

First transmission of WGS data using quantum cryptography

Toshiba and the Tohoku University Medical Megabank Organisation (ToMMo) has succeeded in demonstrating the world’s first quantum cryptography transmission of whole-genome sequence data, with data volumes exceeding several hundred gigabytes. Since speeds for key distribution in quantum cryptographic communication technologies are currently about 10 Mbps at maximum, the speed at which data can be…

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Genome and genes decoded

One step closer to Indian cobra antivenom

Scientists from India and the USA, along with a team of international collaborators from academia and industry report the sequencing and assembly of a high-quality genome of the highly venomous, medically important Indian cobra (Naja naja). Using a combination of cutting-edge genomic technologies, the authors have assembled the most contiguous genome of this iconic venomous snake. Venom is a…

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MRI & machine learning

A look into the genome of brain tumors

Researchers at Osaka University have developed a computer method that uses magnetic resonance imaging (MRI) and machine learning to rapidly forecast genetic mutations in glioma tumors, which occur in the brain or spine. The work may help glioma patients to receive more suitable treatment faster, giving better outcomes. The research was recently published in Scientific Reports. Cancer treatment…

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Single cell analysis & machine learning

scPred: Finding the ‘fingerprint’ of human cells

Researchers say a new method to analyse data from individual human cells could be a step-change for diagnosing some of the most devastating diseases, including cancer and autoimmune disease. By combining single cell analysis techniques with machine learning algorithms, a team led by researchers at the Garvan Institute of Medical Research has developed a method to ‘fingerprint’ human cells.…

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Promising preclinical study results

Epilepsy: Gene therapy shows long-term suppression of seizures

Teams of researchers from Charité – Universitätsmedizin Berlin and the Medical University of Innsbruck have developed a new therapeutic concept for the treatment of temporal lobe epilepsy. It represents a gene therapy capable of suppressing seizures at their site of origin on demand. Having been shown to be effective in an animal model, the new method will now be optimized for clinical use.…

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Interactive CVD risk calculator

KardioKompassi: Individualised cardiac disease prevention with genomic data

With KardioKompassi, researchers from the University of Helsinki have developed an interactive web tool that aims to predict and prevent cardiovascular disease. The application for patients and doctors uses traditional health information combined with genome information, including 49,000 DNA variations associated with the disease. Using this data, the risk calculator evaluates the risk of cardiac…

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CYLD cutaneous syndrome

Breakthrough in understanding CCS skin disease

For the first time, scientists at Newcastle University have identified changes in the DNA of the tumour cells in those with CYLD cutaneous syndrome (CCS) that may help them grow. A study published in Nature Communications suggest that the tumour cells gain a ‘survival advantage’ when the changes occur – an important step in understanding ways to develop treatments. CCS is a hereditary…

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CRISPR 2.0

Is 'prime editing' the next step in gene editing?

A team from the Broad Institute of MIT and Harvard has developed a new CRISPR genome-editing approach by combining two of the most important proteins in molecular biology – CRISPR-Cas9 and a reverse transcriptase – into a single machine. The system, called “prime editing,” is capable of directly editing human cells in a precise, efficient, and highly versatile fashion. The approach…

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Inherited neuromuscular disease HSP

Genetic cause for hereditary spastic paraplegia identified

Scientists at St George’s, University of London, in collaboration with researchers from Germany, the USA, Tunisia and Iran have identified a new gene associated with the neuromuscular disorder, hereditary spastic paraplegia (HSP). The study, published in Nature Communications, also highlights a potential mechanism for the disease, which is already being targeted in drug trials for Alzheimer’s…

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Influential genes

Our microbiome is shaped by genetic differences in the immune system

Genetic differences in the immune system shape the collections of bacteria that colonize the digestive system, according to new research by scientists at the University of Chicago. In carefully controlled experiments using germ-free mice populated with microbes from conventionally raised mice, the researchers showed that while the makeup of the microbial input largely determined the resulting…

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