Keyword: genetics

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The Estonian Genome Project

Everyone’s DNA recorded for disease risks

When it comes to genetics, Estonia has long been considered a trailblazer, as the ambitious Estonian Genome Project (Eesti Geenivaramu) shows. Its objective is to test the genome of each and every citizen for the risk of diseases. Where risks are detected, testing is followed up with information, prevention and, where appropriate, treatment. Dr Jaanus Pikani, one of the initiators, talks about…

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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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Aging research

Finding Nemo's secret of longevity

It is the Methusalem among fishkind: The colorful Clownfish lives longer than 20 years in the Aquarium. Researchers of the Scuola Normale Superiore in Pisa, Italy, in collaboration with the Leibniz Institute on Aging (FLI) in Jena, Germany, have investigated the genetics behind the longevity of Clownfish. By sequencing the genome and comparing the sequences with other species, they were able to…

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Personalized treatment

Genome analytics become affordable for daily hospital use

Today, on the occasion of the international DNA day, imec, a world-leading research and innovation hub in nanoelectronics and digital technologies, and its partners revealed their Genome Analytics Platform (GAP) platform, a unique platform that can perform a full genome analysis of 48 samples in only 48 hours and at an acceptable cost. The platform paves the way to genome sequencing as a daily…

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A new weapon against antibiotic resistance

Programming a hunter/killer toxin

When the first antibiotics were discovered in the early 20th century, the rate of death from infectious diseases fell dramatically. But the emergence of multidrug-resistant bacteria as a result of antibiotic misuse is raising fears that by 2050, these same diseases will once again become the leading cause of death worldwide. In a bid to boost the arsenal available to tackle this threat,…

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Genetics

Sequencing methods – unfold the full potential for hospitals

Gene sequencing has been progressing in leaps and bounds over the past few years. The process of determining the order of nucleotides in DNA has become faster and more precise. Moreover, today both microbial DNA and host DNA can be identified in the blood sample of an infected patient, isolated and sequenced. “We are facing a technological revolution, but we still struggle with actually…

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Building a risk profile

Audiologists seek genetic link to tinnitus

Tinnitus, more commonly known as ringing in the ears, is a serious audiological and neurological condition affecting nearly 50 million Americans. Noise and music exposure are the predominant environmental risk factors for tinnitus. There is no known cure, and there are no FDA-approved medications developed specifically to treat it. The fact is, tinnitus is very common but not well understood. A…

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Gene editing

DNA “shredder”: a different kind of CRISPR

In the last six years, a tool called CRISPR-Cas9 has transformed genetic research, allowing scientists to snip and edit DNA strands at precise locations like a pair of tiny scissors. But sometimes, it takes more than scissors to do the job. Now, a collaborative international team has unveiled a new CRISPR-based tool that acts more like a shredder, able to wipe out long stretches of DNA in human…

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Rare bone cancer

Targeted approach to therapy for chordomas

Chordomas are rare bone tumors for which only few options of treatment exist. Scientists and doctors from the National Center for Tumor Diseases (NCT), the German Cancer Research Center (DKFZ), and Heidelberg University Hospital (UKHD) have discovered a particular genetic trait of chordomas in advanced stages after conducting gene analysis. Their findings, published in the journal Nature…

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Against rebound

Pancreatic cancer: Genome-wide analysis reveals new strategies

For some cancers, initial treatment with chemotherapy brings positive, but only temporary, results: tumors shrink, but then rebound as the cancer becomes drug-resistant. This pattern of remission-resistance-relapse is particularly true for pancreatic cancer, an aggressive disease in which early success is often countered by eventual disease progression. To wit: The one-year relative survival rate…

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