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First complete human genome poised to strengthen genetic analysis, NIST study shows

The T2T consortium's completed human genome has shown significant improvements in DNA sequencing accuracy, correcting tens of thousands of errors and revealing millions of genetic variations. This new reference genome can support the analysis of over 200 genes of medical relevance, potentially propelling research into genetic disorders.

Repeats are key to understanding humanity's genome

Researchers fill in gaps in Human Reference Genome, discovering repetitive sections are a major source of human variation and genetic diversity. The Telomere-2-Telomere project reveals complex architectural features with significant consequences for understanding human evolution and biological function.

SourceUniversity of Connecticut·JournalScience·TypeData/statistical analysis·DateMar 31, 2022

Researchers expand target range of CRISPR/Cas Systems

Scientists have developed a new approach to expand the target range of CRISPR/Cas systems, allowing for slight variations in target DNA while maintaining local specificity. This technology could help realize the potential of CRISPR/Cas-based gene therapy and pathogen diagnosis, particularly for diagnostics.

SourceUniversity of Toronto·JournalNature Communications·TypeExperimental study·DateMar 29, 2022

The hardy wild grass that could save our bread

A team of researchers identified a stem rust resistance gene from wild goat grass species Aegilops sharonensis, which can be cross-bred into wheat for immunity against deadly crop pathogens. The genetic potential of this hardy relative has been largely unexplored and holds promise for reducing the threat of the stem rust disease.

SourceJohn Innes Centre·JournalNature Communications·TypeExperimental study·DateMar 25, 2022

Leveraging AI to work with cells

Researchers at Northwestern University developed an AI-assisted Nanofountain Probe Electroporation system to engineer stem cells. The new method reduces cell loss and increases throughput, enabling selective manipulation of individual cells in micro-arrays.

SourceNorthwestern University·JournalSmall·TypeExperimental study·DateMar 22, 2022

Single test for over 50 genetic diseases will cut diagnosis from decades to days

A new DNA test has been developed to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more accurately than existing tests. The test uses Nanopore sequencing technology to scan for abnormally long repeats within patients' genes, which are the hallmarks of disease.

SourceGarvan Institute of Medical Research·JournalScience Advances·TypeObservational study·DateMar 4, 2022

Scientists expand CRISPR-Cas9 genetic inheritance control in mammals

Researchers have successfully developed CRISPR-Cas9 inheritance control in male mice by shifting the gene editing window to match the timing of meiosis. This achievement expands the potential for human disease research and environmental applications, offering benefits such as laboratory efficiency improvements and cost savings.

SourceUniversity of California - San Diego·JournalPLOS Biology·TypeExperimental study·DateJan 11, 2022

Development of rapid and simultaneous diagnosis of COVID-19/influenza diseases by manipulating microfluidic flow with a microfluidic chip

Researchers developed a microfluidic chip for rapid and simultaneous diagnosis of COVID-19 and influenza diseases, achieving results within 30 minutes. The device uses the LAMP method for genetic amplification and has potential applications in various fields beyond human infectious diseases.

SourceToyohashi University of Technology (TUT)·JournalLab on a Chip·TypeExperimental study·DateJan 4, 2022

The inaugural WHO classification of childhood tumors will provide a unified, updated resource for the diagnosis of pediatric cancers

The inaugural WHO classification of childhood tumors presents a single, updated compendium of all tumor entities in childhood or adolescence, divided by organ sites. This classification incorporates traditional morphology, immunohistochemistry, and molecular characteristics to provide essential criteria for definition of tumor types.

SourceAmerican Association for Cancer Research·JournalCancer Discovery·DateDec 17, 2021

Powerful new tool makes coral reef monitoring faster, easier, cheaper

Researchers have developed a powerful new tool that can determine the diversity of hard corals on a reef by analyzing DNA in seawater samples. This method is faster, easier, and less expensive than traditional visual identification, allowing for more accurate coral reef conservation and restoration.

SourceOkinawa Institute of Science and Technology (OIST) Graduate University·JournalFrontiers in Marine Science·TypeExperimental study·DateDec 6, 2021

Chemotherapy fails for some blood cancer patients because of crucial gene mutations, finds study by NTU Singapore and Singapore General Hospital

A recent study by NTU Singapore and Singapore General Hospital found that mutations in the DDX3X gene are responsible for chemotherapy resistance in some blood cancer patients. The study also discovered that STAT inhibitors can effectively kill lymphoma cells with DDX3X mutations, providing hope for new treatment options.

SourceNanyang Technological University·JournalMolecular Cancer·TypeExperimental study·DateDec 6, 2021

How alike are the cancer cells from a single patient?

A new study by USC researchers uses a genetic technology to analyze gene expression signatures of individual cancer cells from patients with leukemia. The findings show that cancer cells with distinct gene expression profiles tend to grow in different organs, while those with specific genes are more resistant to chemotherapy.

SourceKeck School of Medicine of USC·JournalNature Communications·TypeExperimental study·DateNov 11, 2021

New research helps explain the genetic basis for why we look the way we do

A new study published in Science Advances has shed light on the genetic basis of human appearance features by investigating the role of Hox genes. The researchers replaced the proboscipedia gene in a common laboratory fruit fly with its counterpart from a rarer Hawaiian cousin, revealing that Hox genes function as scaffolds for downstr...

SourceUniversity of California - San Diego·JournalScience Advances·TypeExperimental study·DateNov 10, 2021

How to turn specific genes on and off

Researchers at McGill University developed a new technique to manipulate DNA methylation levels at specific genes using CRISPR/Cas9 technology. This approach enables targeted demethylation of genes associated with diseases, such as insulin gene dysregulation in diabetes.

SourceMcGill University·JournalNature Communications·DateNov 9, 2021

scAAVengr hunt for viruses to cure blindness

A novel computational platform called scAAVengr uses single-cell RNA sequencing to quickly evaluate viral vectors for delivering gene therapies to the retina with maximum efficiency and precision. This approach saves time and resources by identifying suitable candidates that can deliver therapy to affected parts of the retina accurately.

SourceUniversity of Pittsburgh·JournaleLife·DateOct 19, 2021

Artificial intelligence-based technology quickly identifies genetic causes of serious disease

A new AI-powered algorithm, GEM, has been developed to quickly identify genetic causes of serious disease in newborns. The technology leverages machine learning and natural language processing to analyze vast amounts of genomic data and clinical records, achieving an accuracy rate of 92% compared to existing tools.

SourceUniversity of Utah Health·JournalGenomic Medicine·TypeData/statistical analysis·DateOct 13, 2021

Under the scanner: GIST scientists unravel the inner workings of DNA repair enzymes

GIST scientists utilized latest advances in single molecule detection to observe the enzymatic activity of gene repair. The study revealed that ExoIII has an affinity for damaged DNA sites, creating a gap that Pol I fills. Understanding this mechanism may lead to technologies for targeted gene repair and drug development.

SourceGIST (Gwangju Institute of Science and Technology)·JournalScience Advances·TypeObservational study·DateSep 13, 2021

How do pathogens evolve novel virulence activities and why does it matter?

Scientists are still unraveling how pathogens adapt to changing conditions, including climate change and global trade. Genome sequencing and big data technologies have revealed that dramatic events like hybridization between pathogen species can lead to rapid evolution of virulence on new host plants.

SourceAmerican Phytopathological Society·JournalMolecular Plant-Microbe Interactions·TypeLiterature review·DateSep 7, 2021

New versatile genetic test for lymphoid neoplasms supports personalized management of patients and further research

Researchers have developed a new integrative genetic test, LYNX, that analyzes standard and novel molecular markers in common lymphoid neoplasms. The test provides accurate detection of mutations, identification of large genome-wide chromosomal aberrations, and assessment of immunoglobulin and T-cell receptor gene rearrangements.

SourceElsevier·JournalJournal of Molecular Diagnostics·TypeExperimental study·DateJul 29, 2021

CRISPR/Cas-based diagnostics and gene therapy

CRISPR/Cas technology has advanced diagnostics and gene therapy, enabling fast and accurate disease diagnosis and treating untreatable diseases like cancer and blood disorders. Recent advances in CRISPR-Cas technologies are highlighted, with a discussion of the strength and challenges for its future clinical usage.

SourceCompuscript Ltd·JournalBIO Integration·DateApr 26, 2021