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Category: genetics – Page 328

Glioblastoma is the most aggressive type of cancer that begins with the brain and develops from astrocytes, star-shaped brain cells that help protect the brain from diseases in the blood and provide the brain’s neurons with nutrients, with around 12,000 cases diagnosed in the United States each year. Glioblastoma cells have more genetic abnormalities than the cells of other types of astrocytoma brain cancer. Now researchers from the University of Virginia (UVA) School of Medicine report they have identified an oncogene responsible for this deadly cancer.

Their study, “A cytoskeleton regulator AVIL drives tumorigenesis in glioblastoma,” is published in Nature Communications and led by Hui Li, PhD, associate professor, pathology, at the University of Virginia School of Medicine and the UVA Cancer Center.

“Glioblastoma is a deadly cancer, with no effective therapies. Better understanding and identification of selective targets are urgently needed. We found that advillin (AVIL) is overexpressed in all the glioblastomas we tested including glioblastoma stem/initiating cells, but hardly detectable in non-neoplastic astrocytes, neural stem cells or normal brain,” the researchers wrote.

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Scientists successfully edited RNA in a living animal in such a way that the repaired RNA then corrected a mutation in a protein that gives rise to a debilitating neurological disorder in people known as Rett syndrome.

The advance by researchers at Oregon Health & Science University publishes in the journal Cell Reports.

“This is the first example of using programmable RNA editing to repair a gene in mouse models of a neurological disease,” said senior author Gail Mandel, Ph.D., senior scientist in the OHSU Vollum Institute. “This gives us an approach that has some traction.”

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For the first time, scientists have determined the complete sequence of a human chromosome, namely the X chromosome, from ‘telomere to telomere’. This is truly a complete sequencing of a human chromosome, with no gaps in the base pair read and at an unprecedented level of accuracy.

A step closer towards the complete blueprint of a human being

The Human Genome Project was a 13-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire human genome.

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In 2003, history was made. For the first time, the human genome was sequenced. Since then, technological improvements have enabled tweaks, adjustments, and additions, making the human genome the most accurate and complete vertebrate genome ever sequenced.

Nevertheless, some gaps remain — including human chromosomes. We have a pretty good grasp of them in general, but there are still some gaps in the sequences. Now, for the first time, geneticists have closed some of those gaps, giving us the first complete, gap-free, end-to-end (or telomere-to-telomere) sequence of a human X chromosome.

The accomplishment was enabled by a new technique called nanopore sequencing, which enables ultra-long-reads of DNA strands, providing a more complete and sequential assembly.

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In this premier episode of Lifespan News, Brent Nally discusses Unity Biotechnology’s human trials of novel senolytic drugs, including a Phase 2 human trial of a senolytic drug for knee osteoarthritis; two proteins that allow LDL cholesterol to enter our cells; Ponce de Leon Health and epigenetic age reversal; the reason why naked mole rats are so resistant to cancer; XPrize adding longevity to its impact roadmaps; and a promo code for Ending Age-Related Diseases 2020, our upcoming online conference.

You can get your ticket to EARD2020 at https://www.eventbrite.com/e/ending-age-related-diseases-202…4918805703

0:00 Introduction
0:51 Unity Biotechnology Updates
1:43 Proteins & LDL: https://www.lifespan.io/news/two-proteins-allow-ldl-cholesterol-into-our-cells/
2:17 Epigenetic Age Reversal: https://www.lifespan.io/news/pilot-study-results-suggest-epi…-reversal/
3:18 Naked Mole Rat
4:11 XPrize and Longevity: https://www.xprize.org/articles/future-of-longevity-blog-post
4:50 Additional Information and Outro

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It’s not yet clear why some people infected with SARS-CoV-2, the virus that causes COVID-19, get really sick, while others have only mild symptoms. There’s some evidence that chronic health conditions—such as hypertension and diabetes can play a role, and scientists know that people’s genes can influence how their bodies react to other viruses. In a preprint posted to medRxiv on June 2, researchers describe a genome-wide association study (GWAS) of from 1,610 hospitalized patients with COVID-19 and 2,205 healthy controls. The authors identified variants in two regions—the locus that encodes blood type and a multi-gene cluster on chromosome 3—that were linked to respiratory failure during SARS-CoV-2 infection.

In a genome-wide association study, variants in both the ABO blood group locus and a cluster of genes on human chromosome 3 are more common among COVID-19 patients with respiratory failure than in the general population.

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The first reliable way of isolating sperm stem cells from the testes and growing them outside the body could help infertile men have genetic children of their own.

A few teams have claimed to have isolated sperm stem cells before, but haven’t been able to repeat the results. “The general feeling is that there is no reliable method,” says Miles Wilkinson at the University of California, San Diego.

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Theoretical Physicist Lawrence Krauss writes in the Wall Street Journal.

WSJ: In the 1980s, when I was a young professor of physics and astronomy at Yale, deconstructionism was in vogue in the English Department. We in the science departments would scoff at the lack of objective intellectual standards in the humanities, epitomized by a movement that argued against the existence of objective truth itself, arguing that all such claims to knowledge were tainted by ideological biases due to race, sex or economic dominance.

It could never happen in the hard sciences, except perhaps under dictatorships, such as the Nazi condemnation of “Jewish” science, or the Stalinist campaign against genetics led by Trofim Lysenko, in which literally thousands of mainstream geneticists were dismissed in the effort to suppress any opposition to the prevailing political view of the state.

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As cells develop, changes in how our genes interact determines their fate. Differences in these genetic interactions can make our cells robust to infection from viruses or make it possible for our immune cells to kill cancerous ones.

Understanding how these gene associations work across the development of human tissue and organs is important for the creation of medical treatments for complex diseases as broad as cancer, developmental disorders, or .

A new technology called single-cell RNA-sequencing has made it possible to study the behavior of genes in human and mammal at an unprecedented resolution and promises to accelerate scientific and medical discoveries.

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