Researchers apply CRISPR technology to eliminate fusion genes present in tumor cells

The CRISPR/Cas9 gene-editing tool is one of the most promising approaches to advancing treatments of genetic diseases – including cancer -, an area of research where progress is constantly being made.

Now, the Molecular Cytogenetics Unit led by Sandra Rodríguez-Perales at the Spanish National Cancer Research Centre (CNIO) has taken a step forward by effectively applying this technology to eliminate so-called fusion genes, which in the future could open the door to the development of cancer therapies that specifically destroy tumors without affecting healthy cells. The paper is published in Nature Communications.

Fusion genes are the abnormal result of an incorrect joining of DNA fragments that come from two different genes, an event that occurs by accident during the process of cell division. If the cell cannot benefit from this error, it will die and the fusion genes will be eliminated.

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Study points to genes that control the establishment of neural circuits during early development — ScienceDaily

In an article published in Nature Genetics, researchers confirm that about 14% of all cases of cerebral palsy, a disabling brain disorder for which there are no cures, may be linked to a patient’s genes and suggest that many of those genes control how brain circuits become wired during early development. This conclusion is based on the largest genetic study of cerebral palsy ever conducted. The results led to recommended changes in the treatment of at least three patients, highlighting the importance of understanding the role genes play in the disorder. The work was largely funded by the National Institute of Neurological Disorders and Stroke (NINDS), part of the National Institutes of Health.

“Our results provide the strongest evidence to date that a significant portion of cerebral palsy cases can be linked to rare genetic mutations, and in doing so identified several key genetic pathways involved,” said Michael Kruer,

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Comparison of genes and MRI results shows associations — ScienceDaily

A new study implicates 160 genes in brain shrinkage seen on MRIs of 45,000 healthy adults. The shrinkage is in the cortex, the dimply outer layer of the brain that gives rise to thinking, awareness and action, and largely consists of gray matter.

The study, published Sept. 22 in the journal Nature Communications, examined 34 regions of the cortex in a discovery group of 22,894 individuals, then confirmed the findings in a replication group of 22,635 individuals.

“It is important to understand the biology of multiple regions of the cortex because each is affected differently in the various types of neurodegeneration including Alzheimer’s disease,” said Sudha Seshadri, MD, senior study author from The University of Texas Health Science Center at San Antonio (UT Health San Antonio).

“We asked, ‘What are the genes that seem to determine the thickness, area and volume of gray matter in these regions?'” Dr. Seshadri,

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Variation in genes associated with viral entry of SARS-CoV-2 unlikely to influence COVID-19 morbidity and mortality, study finds — ScienceDaily

A comprehensive search of genetic variation databases has revealed no significant differences across populations and ethnic groups in seven genes associated with viral entry of SARS-CoV-2.

African Americans and Latinos in the United States and ethnic minorities in the United Kingdom are disproportionately affected by COVID-19. They are more likely to develop severe symptoms and also show significantly higher mortality compared with other regional and ethnic groups.

To investigate if this disparity could be caused by genetic variation, a team of three researchers — including Assistant Professor Ji-Won Lee of Hokkaido University’s Graduate School of Dental Medicine — surveyed publicly available databases of genomic variants, including gnomAD, the Korean Reference Genome Database, TogoVar (a Japanese genetic variation database) and the 1000 Genomes Project. They studied variants across multiple regional and ethnic groups in seven genes known to play roles in viral entry into host cells and recognition of viral RNA

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