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Archive for the ‘genetics’ category: Page 493

May 31, 2016

Use of next-generation gene sequencing in NICUs may improve diagnosis of rare diseases

Posted by in categories: biotech/medical, genetics

The use of next-generation gene sequencing in newborns in neonatal intensive care units (NICUs) may improve the diagnosis of rare diseases and deliver results more quickly to anxious families, according to new research in CMAJ (Canadian Medical Association Journal).

“Next-generation sequencing has the potential to transform the practice of clinical genetics rapidly,” writes Dr. David Dyment, Children’s Hospital of Eastern Ontario (CHEO), with coauthors. “In particular, newborns admitted to the NICU with rare and complex diseases may benefit substantially from a timely molecular diagnosis through next-generation sequencing.”

Children with suspected rare genetic diseases usually undergo a battery of tests to determine a molecular diagnosis. Current practice involves testing of specific genes or a panel of genes, and these tests are often done outside the country because of limited availability within Canada. This means it may be months or even years before a diagnosis is made.

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May 31, 2016

Gene BRCA1 Plays An Important Role In DNA Repair

Posted by in categories: biotech/medical, genetics

Interesting.


The research, published in Nature Structural and Molecular Biology, explains how the gene encourages the attachment of the protein, ubiquitin, to other proteins and plays a vital role in DNA repair. Should the results be confirmed by further studies, it is possible that patients with certain genetic changes in BRCA1 could be identified as being at higher risk of breast and ovarian cancer.

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May 31, 2016

The Coming Genetic Editing Age of Humans Won’t Be Easy to Stomach

Posted by in categories: 3D printing, bioengineering, biotech/medical, genetics, government, health, transhumanism, transportation

My new article for Vice Motherboard on extreme biohacking that compares the Uncanny Valley to Speciation Syndrome:


Transhumanism tech like CRISPR, 3D printing, and coming biological regeneration of limbs will not only change lives for those that have deformities, but it will change how we look at things like a person with a three-foot tail and maybe even a second head.

At the core of all this is the ingrained belief that the human being is pre-formed organism, complete with one head, four limbs, and other standard anatomical parts. But in the transhumanist age, the human being should be looked at more like a machine—like a car, if you will: something that comes out a particular way with certain attributes, but then can be heavily modified. In fact, it can be rebuilt from scratch.

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May 29, 2016

The Fourth Industrial Revolution

Posted by in categories: economics, energy, genetics, robotics/AI, supercomputing, transportation

Ubiquitous, mobile supercomputing. Artificially-intelligent robots. Self-driving cars. Neuro-technological brain enhancements. Genetic editing. The evidence of dramatic change is all around us and it’s happening at exponential speed.

Previous industrial revolutions liberated humankind from animal power, made mass production possible and brought digital capabilities to billions of people. This Fourth Industrial Revolution is, however, fundamentally different. It is characterized by a range of new technologies that are fusing the physical, digital and biological worlds, impacting all disciplines, economies and industries, and even challenging ideas about what it means to be human.

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May 29, 2016

More Efficient CRISPR Gene Editing May Potentially Help Cure Diseases

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

Awesome.


Researchers have developed a new gene editing tool that is more efficient and easier to use. CRISPR-EZ addresses the issue of target RNA accuracy and embryo viability in IVF transgenic mice.

( andrew modzelewski/lin he | university of california berkeley )

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May 25, 2016

Poverty marks a gene, predicting depression

Posted by in categories: biological, genetics, neuroscience

Not surprised;


A long line of research links poverty and depression. Now, a study by Duke University scientists shows how biology might underlie the depression experienced by high-risk adolescents whose families are socio-economically disadvantaged.

The study, published May 24, 2016 in the journal Molecular Psychiatry, combined genetics, brain imaging and behavioral data gathered as adolescents were followed for more than three years as part of a larger study.

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May 25, 2016

Tratamento com hormônios sexuais recupera células de doenças genéticas graves

Posted by in categories: biotech/medical, genetics, life extension, sex

Treatment with sex hormones recovers serious genetic diseases cells, this is the first demonstration that the lengthening of telomeres is possible in humans with the use of a medication,” says the researcher.


Estudo demostrou que há como estimular a enzima telomerase por meio de hormônios sexuais, tanto masculinos quanto femininos.

Por — Editorias: Ciências, Ciências Biológicas, Ciências da Saúde.

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May 25, 2016

Is aging inevitable? Not necessarily for sea urchins

Posted by in categories: biological, genetics, health, life extension

Sea urchins are remarkable organisms. They can quickly regrow damaged spines and feet. Some species also live to extraordinary old ages and—even more remarkably—do so with no signs of poor health, such as a decline in regenerative capacity or an increase in age-related mortality. These ocean Methuselahs even reproduce as if they were still youngsters.

MDI Biological Laboratory Associate Professor James A. Coffman, Ph.D., is studying the of sea urchins in hopes that a deeper understanding of the process of regeneration, which governs the regeneration of aging tissues as well as lost or damaged body parts, will lead to a deeper understanding of the aging process in humans, with whom sea urchins share a close genetic relationship.

In a paper recently published in Aging Cell, a leading journal in the field of aging biology, with Andrea G. Bodnar, Ph.D., of the Bermuda Institute of Ocean Studies, the scientists shed new light on the aging process in sea urchins, raising the prospect that the physical decline that typically accompanies aging is not inevitable.

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May 24, 2016

Researchers identify genes linked to the effects of mood and stress on longevity

Posted by in categories: biotech/medical, genetics, life extension, neuroscience

The visible impacts of depression and stress that can be seen in a person’s face—and contribute to shorter lives—can also be found in alterations in genetic activity, according to newly published research.

In a series of studies involving both C. elegans worms and human cohorts, researchers from the Indiana University School of Medicine and the Scripps Research Institute have identified a series of genes that may modulate the effects of good or bad mood and response to stress on lifespan. In particular, the research pointed to a gene known as ANK3 as playing a key role in affecting . The research was published May 24, 2016 in the Nature Publishing Group journal Molecular Psychiatry, the top ranked journal in the field of psychiatry.

“We were looking for genes that might be at the interface between mood, stress and longevity”, said Alexander B. Niculescu III, M.D., Ph.D., professor of psychiatry and medical neuroscience at the IU School of Medicine. “We have found a series of genes involved in mood disorders and stress disorders which also seem to be involved in longevity.

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May 24, 2016

Genetic variants isolated that lead to enhanced PD-L1 protein production in cancer cells

Posted by in categories: biotech/medical, genetics

(Medical Xpress)—A large team of researchers from a host of research facilities across Japan has found some genetic variants in some cancer cells that lead to enhanced PD-L1 protein production—which results in increased protection against attacks by the immune system. In their paper published in the journal Nature, the team describes their sequencing study involving adult T-cell leukemia/lymphoma cases, what they found and the possibility that such variants could be used as identifying markers in cancer patients.

Prior studies have shown that an increase in the expression of the protein PD-L1 by cancer cells confers enhanced protection against attacks by the human immune system—PD-1 receptors on T cells bind with PD-L1 causing the to become unresponsive, preventing them from attacking tumors. In this new effort, the researchers conducted a genetic analysis of a particular type of cancer cell to learn more about the genetic process involved in causing an increase in expression of PD-L1.

The team conducted whole-genome sequencing on samples given by 49 adult patients suffering from leukemia or lymphoma, looking specifically for variations that might account for an increase in expression of PD-L1. In so doing, they found that variations such as duplications, inversions or translocations in 13 of the samples, representing 27 percent of those tested, existed on a certain part of chromosome 9, which prior research had found was the part of the genome responsible for the expression of PD-L1. They report that such alterations seemed to cut off the gene’s 3’ untranslated region of the protein and in some cases led to rearranging the gene’s open reading frame, which allowed more of the protein to be expressed.

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