Genetics

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NGS-based diagnostics

Collaboration on early detection of recurrent breast cancer

Together with Imperial College London (‘Imperial’), molecular diagnostics company DNAe has been awarded a UK Knowledge Transfer Partnership (KTP) by Innovate UK to support development of its next…

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'CRyPTIC' research

Global tuberculosis study identifies genetic causes of drug resistance

Using cutting-edge genomic sequencing techniques, researchers at the University of Oxford have identified almost all the genomic variation that gives people resistance to 13 of the most common…

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Genomic tracking

Retracing the Covid-19 pandemic in England

The Covid-19 crisis that gripped England between September 2020 and June 2021 can be thought of as a series of overlapping epidemics, rather than a single event, say researchers at the Wellcome…

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Prevention of toxic DNA lesions

Promising mechanism to stop Huntington's progression

A new mechanism that stops the progression of Huntington’s disease in cells has been identified by scientists at the University of Cambridge and University College London (UCL), as part of their…

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CRISPR and co.

Patent law could curb unethical human-genome editing

A new paper co-written by a University of Illinois Urbana-Champaign scholar who studies the legal and ethical implications of advanced biotechnologies outlines an unexplored tool to regulate the…

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Regulatory issues

Genetic data privacy, the GDPR, and research needs: a delicate balance

The EU’s General Data Protection Regulation (GDPR) has created a great deal of uncertainty about how key requirements should be interpreted. This means that collaborators in international genetic…

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Precision oncology

Personalized health and genomics: Minimizing collateral damage

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…

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Genome editing

Using CRISPR to speed up Covid-19 testing

A research team led by scientists in the labs of Jennifer Doudna, David Savage and Patrick Hsu at the University of California, Berkeley, is aiming to develop a rapid Covid-19 diagnostic test that is much faster and easier to deploy than qRT-PCR. It has now combined two different types of CRISPR enzymes to create an assay that can detect small amounts of viral RNA in less than an hour. Doudna…

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Controlling KRAS

New targeted gene therapy could stop lung cancer progression

A newly targeted therapy could help millions of lung cancer patients worldwide keep their cancers from spreading, says an expert at Cleveland Clinic, on the occasion of World Lung Cancer Day. Dr. Khaled Hassan, of the Hematology and Medical Oncology Department at Cleveland Clinic, said: “The KRAS mutation is a main gene that drives cancer, and lung cancer specifically, but previously it’s…

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Identificación de mutaciones tumorales

El aprendizaje automático impulsa la medicina personalizada del cáncer

El laboratorio de Genómica Biomédica del IRB Barcelona (Institute for Research in Biomedicine) ha desarrollado un método computacional que identifica las mutaciones causantes del cáncer para cada tipo de tumor. Este y otros desarrollos del mismo laboratorio buscan acelerar la investigación oncológica y ofrecer herramientas para que los oncólogos puedan elegir el mejor tratamiento para cada…

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Tool to identify tumour mutations

Machine learning fuels personalised cancer medicine

The Biomedical Genomics laboratory at the Institute for Research in Biomedicine (IRB) Barcelona has developed a computational tool that identifies cancer driver mutations for each tumour type. This and other developments produced by the same lab seek to accelerate cancer research and provide tools to help oncologists choose the best treatment for each patient. The study has been published in the…

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Genetic alterations

Same mutation, different cancers: researchers explore connections

Why do alterations of certain genes cause cancer only in specific organs of the human body? Scientists at the German Cancer Consortium (DKTK), the Technical University of Munich (TUM), and the University Medical Center Göttingen have now demonstrated that cells originating from different organs are differentially susceptible to activating mutations in cancer drivers: The same mutation in…

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Leading cause for blindness

Breakthrough in research on age-related macular degeneration

Age-related macular degeneration (AMD) is the most common cause of blindness in developed countries affecting seven million in total in Germany, from which 500,000 people are suffering from late stage disease, around half of whom are registered as visually impaired. There are two forms of AMD, ‘wet’ and ‘dry’. There are currently no treatments available for the dry form of the disease…

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Coronavirus epidemiology

A cloud-based software for the surveillance of SARS-CoV-2 variants

In-vitro-diagnostics company bioMérieux has launched Episeq SARS-CoV-2, a genomic software solution to support microbiology labs in identification and reporting from raw sequencing data related to SARS-CoV-2 variants. Viral mutation is a naturally occurring phenomenon leading to the emergence of variants that can have different characteristics. Today, a number of SARS-CoV-2 variants are…

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Sonothermogenetics

Tool activates deep brain neurons by combining ultrasound, genetics

Neurological disorders such as Parkinson’s disease and epilepsy have had some treatment success with deep brain stimulation, but those require surgical device implantation. A multidisciplinary team at Washington University in St. Louis has developed a new brain stimulation technique using focused ultrasound that is able to turn specific types of neurons in the brain on and off and precisely…

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Inner ear reseach

Hearing loss: newfound gene gives insights into the cochlea

A gene called GAS2 plays a key role in normal hearing, and its absence causes severe hearing loss, according to a study led by researchers in the Perelman School of Medicine at the University of Pennsylvania. The researchers, whose findings are published online in Developmental Cell, discovered that the protein encoded by GAS2 is crucial for maintaining the structural stiffness of support cells…

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dPCR and HSAFM

Low-cost technique for missed genetic mutations

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…

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Cancer research

'Gene ferry' improves immune therapies

Genetically enhancing a patient's immune cells by adding therapeutic genes to them outside the body is regarded as a promising new treatment approach in oncology. However, the production of these therapeutic cells using viruses is not only expensive but time-consuming. Researchers at the German Cancer Research Center (DKFZ) have developed an innovative non-viral vector that can efficiently…

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Biomarker research

"Jumping" genes might protect against AML and other blood cancers

New research has uncovered a surprising role for so-called “jumping” genes that are a source of genetic mutations responsible for a number of human diseases. In the new study from Children’s Medical Center Research Institute at UT Southwestern (CRI), scientists made the unexpected discovery that these DNA sequences, also known as transposons, can protect against certain blood cancers. These…

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CRISPR-Cas9

An 'on-off switch' for gene editing

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,…

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Tiny changes, huge effects

Finding causes of disease with induced pluripotent stem cells

Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex and also rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory (EMBL), together with international partners, have studied genotype-phenotype relationships in iPSCs using data from approximately one thousand donors. Tens of…

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Mutations of SARS-CoV-2 & Co.

Tracking virus variants faster with sequencing

A global group of researchers is calling for better integration of viral genetics, bioinformatics, and public health to enable better pandemic response now and better pandemic preparedness in the future. In a comment piece in the journal Nature, an international collaboration of specialists in viral and genetic analysis, led by Swiss scientists Dr. Emma Hodcroft at the University of Bern and…

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53,831 genomes analysed

Rare diseases: huge dataset brings new insights

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…

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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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