Genetics

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Mapping the 'family tree' of cancer

Metastasis monitoring: CRISPR tool catches cancer 'in the act'

When cancer is confined to one spot in the body, doctors can often treat it with surgery or other therapies. Much of the mortality associated with cancer, however, is due to its tendency to metastasize, sending out seeds of itself that may take root throughout the body. The exact moment of metastasis is fleeting, lost in the millions of divisions that take place in a tumor. “These events are…

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The role of the MLL4 gene

New insights on the Kabuki syndrome

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. How exactly this happens remeained a mystery for long. Now, a new study illuminates new details. The research suggests that MLL4 controls the production of neurons that secrete growth hormone-releasing hormone (GHRH) in a part of the brain called the hypothalamus. Mice without…

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Stepstone for new treatments

Regulatory RNAs promote breast cancer metastasis

Cold Spring Harbor Laboratory (CSHL) scientists have discovered a gene-regulating snippet of RNA that may contribute to the spread of many breast cancers. In animal experiments, the researchers could reduce the growth of metastatic tumors with a molecule designed to target that RNA and trigger its destruction. The same strategy, they say, could be used to develop a new breast cancer treatment for…

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Genome sequence analyzer app

Researchers build world’s first DNA “tricorder”

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. The iGenomics app runs entirely on the iOS device, reducing the need for laptops or large…

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Coronavirus genome folding

Researchers prepare for “SARS-CoV3”

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. Since these structures are very similar among various beta corona viruses, the scientists not only laid the foundation for the targeted development of novel drugs for treating Covid-19, but also for occurrences of infection…

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Detecting coronavirus infections

Covid-19: CRISPR-based test gives GPs quick results

Recent research in Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) has identified two enzymes that can detect Covid-19 RNA as simply as a pregnancy test Jesús Pla, an eminent microbiologist at the Complutense University in Madrid, explained in our exclusive interview. CRISPR technology could help alleviate workloads in packed hospitals and expand testing to primary care and…

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List by top clinicians and researchers

Top 10 medical innovations for 2021

An up-and-coming gene therapy for blood disorders. A new class of medications for cystic fibrosis. Increased access to telemedicine. These are some of the innovations that will enhance healing and change healthcare in the coming year, according to a distinguished panel of clinicians and researchers from Cleveland Clinic. In conjunction with the 2020 Medical Innovation Summit, Cleveland Clinic…

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For the development of CRISPR/Cas9

Nobel Prize in Chemistry goes to Emmanuelle Charpentier and Jennifer A. Doudna

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.

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DNA analysis platform

Performing whole genome data analysis in just a few hours

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…

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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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