Keyword: genetics

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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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Difficult decisions

5 things women under 40 should know about breast cancer

Breast cancer is rare for women under 40. So, a breast cancer diagnosis can be shocking news for a young woman to hear. “Breast cancer in young women can have its own risk factors and traits, and young women have their own considerations when deciding on a treatment,” says Nadine Tung, MD, head of breast medical oncology and cancer genetics at Beth Israel Deaconess Medical Center (BIDMC).…

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COA vs outside intervention

How bacteria defend against CRISPR-Cas

For the first time ever, researchers at the University of Copenhagen have mapped how bacterial cells trigger their defence against outside attacks. This could affect how diseases are fought in the future. With the aid of highly advanced microscopes and synchrotron sources, researchers from the University of Copenhagen have gained seminal insight into how bacteria function as defence mechanisms…

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Cardiology

AI identifies genes linked to heart failure

The Queen Mary University of London team applied an artificial intelligence (AI) technique to analyse the heart MRI images of 17,000 healthy UK Biobank volunteers. They found that genetic factors accounted for 22-39 per cent of variation in the size and function of the heart’s left ventricle, the organ’s main pumping chamber. Enlargement and reduced pumping function of the left ventricle can…

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The Estonian Genome Project

Everyone’s DNA recorded for disease risks

When it comes to genetics, Estonia is considered a trailblazer, as the ambitious Estonian Genome Project (Eesti Geenivaramu) shows. Its objective is to test the genome of every citizen for the risk of diseases. Dr Jaanus Pikani talks about the initial difficulties which the genome project encountered and about its potential for Estonian – and possibly worldwide – healthcare.

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Watson on the case

Personalised cancer care through AI

The Geneva University Hospitals (HUG) is the first European university hospital to utilize IBM’s artificial intelligence (AI) technology to help uncover therapeutic options for cancer patients. HUG will use the IBM Watson Health’s precision oncology offering, Watson for Genomics, an AI tool that enables oncologists to provide patients with more personalized, evidence-based cancer care. Using…

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CRISPR-Cas vs MDC1A

Undoing the damage of muscle dystrophy

A new technology has brought researchers one step closer to a future cure for Congenital Muscular Dystrophy type1A, a devastating muscle disease that affects children. The new findings are based on research by Kinga Gawlik at Lund University, Department of Experimental Medical Science, and were recently published in Nature. Congenital Muscular Dystrophy type1A, MDC1A, a progressive genetic…

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Microbiology

Resistance can spread without antibiotics use

Bacteria are becoming increasingly resistant to common antibiotics. Often, resistance is mediated by resistance genes, which can simply jump from one bacterial population to the next. It’s a common assumption that the resistance genes spread primarily when antibiotics are used, a rationale backed up by Darwin's theory: only in cases where antibiotics are actually being used does a resistant…

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The XX factor

XX chromosomes put women's hearts at risk

New research at the University of Kentucky has confirmed that the presence of XX sex chromosomes increases the amount of fat circulating in the blood, which leads to narrowing of the arteries and ultimately a higher risk of heart attacks and coronary artery disease. The research was published in Nature Communications. The leading cause of death in women is coronary artery disease (CAD), but women…

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Methylation of microRNA

Is it cancer? New method could tell the difference

Levels of molecules associated with genetic function, such as microRNA, can be an important indicator of abnormal activity associated with cancer. However, little is known about how different molecules are altered in cancerous cells. Now, researchers from Japan have found a new way of distinguishing cancerous from non-cancerous tissues. In a study published in Nature Communications, researchers…

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Sexual orientation & DNA

A single 'gay gene'? Doesn't exist, says science

Genes alone cannot be used to determine an individual’s sexual orientation. A study published in the journal Science found only five out of hundreds of thousands genetic variants occurred somewhat more often in people who had had same-sex partners. This suggests human sexuality is influenced by a complex mix of genetic and environmental factors, according to the researchers. The study is based…

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Methods, quality assurance, commercial providers issues

Molecular testing takes a huge leap

In terms of success in revolutionary cancer treatment, molecular genetic examination procedures have developed immensely over recent years. They now range from conventional polymerase chain reactions (PCR) or fluorescence-in-situ hybridisation (FISH) to Next Generation Sequencing (NGS) with analysis of the entire exome or genome (Whole-Exome, WES or Whole-Genome, WGS) and of the transcriptome…

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Genetic mutations

'Invade and evade': Deciphering pancreatic cancer’s tactics

Two known gene mutations induce pathways that enhance pancreatic cancer’s ability to invade tissues and evade the immune system. Researchers report the molecular details of this process providing insights into druggable targets for immunotherapies. Mutations in the genes KRAS and TP53 are closely linked to pancreatic ductal adenocarcinoma, by far the most common type of pancreatic cancer.…

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Gene editing

Taking CRISPR one step further

Researchers at ETH Zurich have refined the famous CRISPR-Cas method. Now, for the very first time, it is possible to modify dozens, if not hundreds, of genes in a cell simultaneously. The biotechnological method CRISPR-Cas offers a relatively quick and easy way to manipulate single genes in cells, meaning they can be precisely deleted, replaced or modified. Furthermore, in recent years,…

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Ovarian and breast cancer

New insights into BRCA1 gene functions

Research led by the University of Birmingham has found important new ways that the BRCA1 gene functions which could help develop our understanding of the development of ovarian and breast cancers. The research, published in Nature, was led by experts at the University of Birmingham’s Birmingham Centre for Genome Biology and Institute of Cancer and Genomic Sciences and is part of a five-year…

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In future pregnancies

Identifying the risk of recurrence of developmental disorder

Having a child with a developmental disorder can cause parents to worry about the outcome of further pregnancies. In cases where the genetic mutation causing the disorder is not present in either parent it is assumed to be a one-off event with a very small chance of recurrence. But in some families, the risk of having another affected child is as high as 50%. Identifying such high-risk families…

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Gene-editing

CRISPR baby mutation significantly increases mortality

A genetic mutation that a Chinese scientist attempted to create in twin babies born last year, ostensibly to help them fend off HIV infection, is also associated with a 21% increase in mortality in later life, according to an analysis by scientists from UC Berkeley. The researchers scanned more than 400,000 genomes and associated health records contained in a British database, UK Biobank, and…

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