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Researchers identify mutations in single genes that lead to cerebral palsy
A new study has shown that the mutated FBXO31 and RHOB genes can each alone cause cerebral palsy, offering potential drug targets.
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Genomics
Genomics is the branch of molecular biology concerned with the structure, function, evolution, and mapping of genomes.
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Using CRISPR to develop a cutaneous leishmaniasis vaccine
Researchers used CRISPR gene-editing to develop a vaccine able to protect against the spread of the Leishmania major parasite which causes cutaneous leishmaniasis.
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Why do some patients develop COVID-19 pneumonia?
Scientists reveal that some patients who develop severe COVID-19 symptoms mount ineffective immune responses due to a lack of type I interferons, either through genetic mutation or inactivation by auto-reactive antibodies.
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Lethal poxviruses could be rendered harmless with single gene removal
Researchers report that removing the vSLFN gene from the ectromelia virus (ECTV) caused a potent immune response which protected animal models.
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Study identifies potential therapeutic targets for most lethal pancreatic cancer
The detailed analysis of adenosquamous cancer of the pancreas (ASCP) suggested FGFR and RORC were two promising therapeutic targets.
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Novel biomarker technology for cancer diagnostics
A new way of identifying cancer biomarkers has been developed by researchers at Lund University in Sweden. The new technology allows very sensitive, quick and cost-effective identification of cancer biomarkers. Nikki Withers spoke to Professor Carl Borrebaeck, who discusses how the researchers demonstrated the power of combining proteomics with genomics.
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NGS: offering a glimmer of hope in the fight against COVID-19
Next-generation sequencing (NGS) has become the method of choice for many researchers responding to infectious disease outbreaks and in the present coronavirus pandemic. Here, Pushpanathan Muthuirulan discusses the potential of NGS for rapid diagnosis and explores some of the emerging high-throughput approaches using NGS as a readout for the detection…
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Powering forward – Genomics England’s COVID-19 response
Genomics England has launched a next-generation genomic research platform that will play a key role in the response to COVID-19. It is hoped this research environment will transform how genomic data is made usable for global biopharma and academic scientists, providing world‑class patient data security, while enabling the flexibility required…
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Tool to track SARS-CoV-2 mutations could inform drug development
A new tool called COVID-3D that monitors SARS-CoV-2 genome mutations could aid drug and vaccine development, its creators say.
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Expert view: ddPCR whole cell DNA workflow efficiently measures success of CAR T-cell production
Not every step of CAR T-cell manufacturing can be tightly regulated, introducing some significant quality control challenges for companies developing CAR T cancer therapies
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Human genome-produced RNA discovered on surface of cells
Human genome-produced RNA has been found on the surface of human cells, which researchers say could be easier for therapeutics to reach.
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Defusing antibody neutralisers in AAV gene therapy
Adeno-associated virus (AAV)-mediated gene therapies allow for the treatment of a growing number of diseases; however, the presence of neutralising antibodies can lead to limitations of this technology, particularly for patients who may be excluded due to these pre-existing or developing neutralising antibodies. Recently, a study was published in Nature…
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Down syndrome study reveals potential leukaemia drug targets
The study evaluating Down syndrome endothelial cells presented novel drug targets for leukaemia and suggested why DS patients may be at greater risk from the cancer.
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SARS-CoV-2, a spillover from animals to man, a spillback from man to animals and… what next?
Professor Giovanni Di Guardo discusses the relationship between animals and humans in regards to the transmission of SARS-CoV-2.
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NGS In-Depth Focus 2020
In this NGS In-Depth Focus: how next-generation sequencing (NGS) enables rapid detection of viruses and a novel NGS platform advancing genomics research.
