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Archive for the ‘genetics’ category: Page 22

Jul 2, 2024

Progressive Cerebrocerebellar Uncoupling in Sporadic and Genetic Forms of Amyotrophic Lateral Sclerosis

Posted by in category: genetics

This prospective, multimodal neuroimaging study systematically assessed both intracerebellar pathology and cerebrocerebellar connectivity alterations in a genetically stratified cohort of amyotrophic lateral sclerosis:


Background and Objectives.

Jul 1, 2024

Fluid Biomarkers in Individuals at Risk for Genetic Prion Disease up to Disease Conversion

Posted by in categories: biotech/medical, genetics

This single-center longitudinal cohort study has followed known carriers of PRNP pathogenic variants at risk for prion disease, individuals with a close relative who died of genetic prion disease but who have not undergone predictive genetic testing, and controls. All participants were asymptomatic at first visit and returned roughly annually. We determined PRNP genotypes, measured NfL and GFAP in plasma, and RT-QuIC, total PrP, NfL, T-tau, and beta-synuclein in CSF.

Jul 1, 2024

The Enzyme Leading the Charge Against Tumor metastasis

Posted by in categories: biotech/medical, genetics, health

This study uncoversthe pivotal role of the enzyme METTL4 in promoting tumor metastasis through the mediation of nuclear N6-methyldeoxyadenosine (6mA) in mammalian cells. By utilizing cellular models, the study demonstrates how hypoxia induces METTL4 to mediate 6mA modifications. This process, in turn, activates genes essential for tumor metastasis, including the involvement of specific long noncoding RNA and a novel HIF-1α co-activator, ZMIZ1. These findings not only shed light on the epigenetic mechanisms driving tumor progression but also establish METTL4 as a prognostic marker for cancer and a potential target for therapeutic intervention. The promise of this discovery lies in its potential to inspire new strategies for combating hypoxia-induced tumor progression, opening avenues for further research and development in cancer treatment.

DNA N6-methyldeoxyadenosine (6mA) has been recognized in various organisms for its role in gene regulation. However, its function in mammalian cells, particularly in the context of cancer, has remained elusive. Previous studies have shown that 6mA modifications can influence gene expression and are present in several species, indicating a potential regulatory role in tumorigenesis. This research addresses a critical gap in understanding the nuclear role of 6mA and its enzymatic mediator METTL4, in mammalian tumor cells, particularly under hypoxia (a common condition in tumor microenvironments that promotes metastasis). The study posits that METTL4-mediated 6mA deposition is a key epigenetic modification that activates metastasis-inducing genes. This finding offers a new perspective on the mechanisms of tumor progression and identifying novel targets for therapeutic intervention.

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Jun 30, 2024

Consciousness in Humanoid Robots

Posted by in categories: genetics, robotics/AI

Building a conscious robot is a grand scientific and technological challenge. Debates about the possibility of conscious robots and the related positive outcomes and hazards for human beings are today no more confined to philosophical circles. Robot consciousness is a research field aimed to a unified view of approaches as cognitive robotics, epigenetic and affective robotics, situated and embodied robotics, developmental robotics, anticipatory systems, biomimetic robotics. Scholars agree that a conscious robot would completely change the current views on technology: it would not be an “intelligent companion” but a complete novel kind of artifact. Notably, many neuroscientists involved in the study of consciousness do not exclude this possibility. Moreover, facing the problem of consciousness in robots may be a major move on the study of consciousness in humans and animals.

Jun 29, 2024

Major Breakthrough In Human Gene Editing Discovered

Posted by in categories: bioengineering, biotech/medical, genetics

Aussie scientists have developed a new gene-editing technique that could be a major breakthrough. It could allow scientists to make accurate and more significant changes to DNA.

#Science #GeneEditing #genes

Jun 29, 2024

AI Tool Using Single-Cell Data Has Promise for Optimally Matching Cancer Drugs to Patients

Posted by in categories: biotech/medical, genetics, robotics/AI

A team led by NCI researchers has developed an artificial intelligence (AI) tool that uses data from individual cells inside tumors to predict whether a person’s cancer will respond to a specific drug. Learn more about how these findings hold promise for optimally matching cancer drugs to patients:


Precision oncology, in which doctors choose cancer treatment options based on the underlying molecular or genetic signature of individual tumors, has come a long way. The Food and Drug Administration has approved a growing number of tests that look for specific genetic changes that drive cancer growth to match patients to targeted treatments. The NCI-MATCH trial, supported by the National Cancer Institute, in which participants with advanced or rare cancer had their tumors sequenced in search of genetic changes that matched them to a treatment, has also suggested benefits for guiding treatment through genetic sequencing. But there remains a need to better predict treatment responses for people with cancer.

A promising approach is to analyze a tumor’s RNA in addition to its DNA. The idea is to not only better understand underlying genetic changes, but also learn how those changes impact gene activity as measured by RNA sequencing data. A recent study introduces an artificial intelligence (AI)-driven tool, dubbed PERCEPTION (PERsonalized single-Cell Expression-based Planning for Treatments In ONcology), developed by an NIH-led team to do just this.1 This proof-of-concept study, published in Nature Cancer, shows that it’s possible to fine-tune predictions of a patient’s treatment responses from bulk RNA data by zeroing in on what’s happening inside single cells.

Continue reading “AI Tool Using Single-Cell Data Has Promise for Optimally Matching Cancer Drugs to Patients” »

Jun 29, 2024

New intelligence model could upend biology, genetics, medicine and AI

Posted by in categories: biotech/medical, genetics, robotics/AI

This may be about as wildly entertaining, disruptive and philosophically profound as legitimate scientific research gets. Michael Levin’s work in cellular intelligence, bioelectrical communication and embodied minds “is going to overturn everything.”

Jun 28, 2024

CRISPR/Cas9: Big Discovery in Gene Editing

Posted by in categories: bioengineering, biotech/medical, chemistry, genetics

Giorgia Marucci of HORIBA explains how Jennifer Doudna, Emmanuelle Charpentier and their research teams revolutionized genetic engineering with their CRISPR-Cas9 discovery. Their groundbreaking approach to DNA editing elevated these two scientists to Nobel Laureate status when they received the Nobel Prize in Chemistry in 2020.

Read more about this story at: https://www.horiba.com/int/scientific

Continue reading “CRISPR/Cas9: Big Discovery in Gene Editing” »

Jun 27, 2024

MIT Reveals Hidden Codes in DNA: A Breakthrough That Could Revolutionize Medicine

Posted by in categories: biotech/medical, genetics

MIT researchers have innovated a method to observe the interaction between genes and enhancers by monitoring their activation times, helping to pinpoint drug targets for genetic disorders. This technique also enhances understanding of eRNA’s function in gene regulation and disease treatment.

Gene Expression and Enhancer Mapping

Although the human genome contains about 23,000 genes, only a fraction of those genes are turned on inside a cell at any given time. The complex network of regulatory elements that controls gene expression includes regions of the genome called enhancers. These are often located far from the genes that they regulate.

Jun 26, 2024

‘Bridge editing’ could be even better at altering DNA than CRISPR

Posted by in categories: biotech/medical, genetics

The CRISPR gene-editing technique has revolutionised biology, but now an even more powerful system called bridge editing could let us completely reshape genomes.

By Michael Le Page

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