Genetics

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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.…

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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…

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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…

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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…

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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…

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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…

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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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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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Coronavirus genome folding

Researchers prepare for “SARS-CoV-3”

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. This could not only lay the foundation for the targeted development of novel drugs for treating Covid-19, but also for occurrences of infection with new corona viruses that may develop in the future.

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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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