Archive Posts

Tests are offered in private clinics and over the internet with the aim of predicting the risk of disease later in life. However, there have been warnings of firms making bogus claims about their tests, with several having little basis in science. There are also concerns that parents who pay for a test for their offspring could be breaching their child's rights.

Now the Human Genetics Commission (HGC) has published a set of voluntary principles for the industry relating to all aspects, including marketing. The principles stop short of forming an official code of practice, which the House of Lords Science and Technology Committee called for last year.

Its report said the industry must be much more tightly regulated and tests needed to be thoroughly reviewed before being marketed. Firms will be under no obligation to sign up to the new principles and there will be no official "mark" for consumers to look for.

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Epigenetic changes to DNA in breast cancers are directly linked with diet, alcohol, and tumour size, and could hence give a glimpse of the severity of the disease, according to researchers from Brown University and the University of California San Francisco.

The findings point to the emergence of new biomarkers that researchers hope will give a more detailed view of the environmental factors that contribute to tumour development and could, in the future, provide improvements in diagnostics and treatment decisions, as well as potentially more personalized recommendations to help prevent recurrence.

The use of epigenetic profiles as biomarkers of disease subtype and severity is a rapidly emerging field with other notable contributions from this group- a field that is being advanced with the support of the NIH, and shows promise for developing novel clinical tools.

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Researchers said Thursday they have identified gene variants that help explain high rates of renal disease among African-Americans, who have a four times greater risk of kidney problems than whites.

According to the study published in the journal Science, variants in the APOL1 gene are the culprits, and likely evolved as a survival mechanism against lethal parasites in Africa.

Investigators at Beth Israel Deaconess Medical Center and the Universite Libre de Bruxelles found patients with focal segmental glomerulosclerosis (FSGS) and hypertension-attributed end-stage kidney disease (H-ESKD) had variants in the APOL1 gene that changed the APOL1 protein sequence.

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Ten years ago, researchers created the first devices (here and here) widely viewed as launching the field of synthetic biology. In the decade since, advances in genomics and the chemical synthesis of DNA, among other fields, have created new tools for investigating and understanding the behavior of biological systems. Some researchers now believe that the time is right to harness these tools in new efforts against cancer and other diseases.

To explore how these tools might be used, NCI and the National Institute of General Medical Sciences convened a workshop in April called “Synthetic Biology and Biomedicine: Progress, Outlook, and Challenges.” The meeting brought leaders in the field to Bethesda, MD, to discuss everything from state-of-the-art technologies and their potential applications in cancer research to ethical questions raised by new discoveries. (See the sidebar below.)

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Here at Singularity Hub, any study that shows the genetic origins of extreme longevity – especially one showing huge effects and published  in a journal as prestigious as Science – is basically our bread and butter. The centenarian study we covered last week made lots of headlines.

And for good reason: it claimed that by looking at a random genome in the study, they could predict with 77% accuracy whether or not that subject lived past 100. But these amazing results have raised a few eyebrows among experts, and some significant problems have already been identified with its methods. Here’s a quick rundown of alleged flaws, as well as the authors’ rebuttals.

First off, for many in the genetics community, the effects of single variants on longevity seemed too strong. Jeffrey Barrett of the Wellcome Trust Sanger Institute has pointed out in the Guardian that in most genetics studies, a single genetic variant will only sway the chances of showing a phenotype by 1.5 fold, at best. The longevity study found a number of variants with far stronger effects, increasing an individual’s chance of hitting the century mark by as much as 10 fold. Barrett suggested that independent replication of the study would likely find far weaker effects.

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A study  published in the prestigious journal Science earlier this month suggesting that genes may hold a key for living to be 100 or older has since come under criticism from experts in the field of genetics. The study, led by Paola Sebastiani and Dr. Thomas Perls at the Boston University School of Public Health and School of Medicine, respectively, used genetic analysis to identify 150 gene variants that researchers used to predict whether people would live to be centenarians with 77% accuracy.

The findings were widely reported — by TIME, the New York Times, the Los Angeles Times, and elsewhere — as yielding clues to the secrets of long life, and potentially paving the way for genetic tests for longevity. Yet, skepticism from colleagues in the field of genetics has since given way to more vocal criticism of the study, the editorial process that led to its publication, and the media environment that put it in the headlines.

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Most viruses need cell-entry proteins called fusogens in order to invade cells. We have known that the herpes virus fusogen does not act alone and that a complex of two other viral cell-entry proteins is always required.

We expected that this complex was also a fusogen, but after determining the structure of this key protein complex, we found that it does not resemble other known fusogens," said senior author Ekaterina Heldwein, PhD, assistant professor in the molecular biology and microbiology department at Tufts University School of Medicine.

"This unexpected result leads us to believe that this protein complex is not a fusogen itself but that it regulates the fusogen. We also found that certain antibodies interfere with the ability of this protein complex to bind to the fusogen, evidence that antiviral drugs that target this interaction could prevent viral infection," Heldwein continued. Heldwein is also a member of the biochemistry and molecular microbiology program faculties at the Sackler School of Graduate Biomedical Sciences at Tufts.

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Analysis of a subject's DNA can place people with rural origins to within five miles of their family's home, a team from the University of Edinburgh claimed. The findings raise the possibility that people who live in cities but have roots in rural communities elsewhere in the same country could locate exactly where their ancestors came from. Previous studies have uncovered genetic differences between populations in different countries, making it possible, for example, to predict whether someone is of northern or southern Italian descent.

The Edinburgh researchers, working with scientists in Italy and Croatia, tested whether the same analysis could be used to distinguish between people from the same country who were separated only by short distances. The team, led by Jim Wilson, studied the genes of people whose four grandparents came from the same village in Scotland, Croatia or Italy. None of the volunteers were related to each other.

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A study of over 1000 centenarians published in the prestigious science journal Science has identified 150 gene variants associated with extreme longevity, which has been defined as a lifespan of over a 100 years.

Researchers found, while most super-centenarians carried all the longevity markers, centenarians had various genetic variants combinations categorized in 19 genetic profiles.

While, centenarians were not found to be free of genetic variants associated with diseases, the fact remains that they remain unaffected by diseases partly due to the longevity SNPs that negate the negative effect of disease gene variants.

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The scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, who 'fathered' the Digital Embryo have now given it wings, creating the Fly Digital Embryo. In work published today in Nature Methods, they were able to capture fruit fly development on film, and were the first to clearly record how a zebrafish's eyes and midbrain are formed.

The improved technique will also help to shed light on processes and organisms, which have so far been under-studied because they could not be followed under a microscope. "Non-transparent samples like the fruit fly embryo scatter light, so the microscope picks up a mixture of in-focus and out-of-focus signal– good and bad information, if you like," says Ernst Stelzer, whose group carried out the project at EMBL.

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