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Category Archives: Transhuman News

Scientists Learn How Abnormal DNA Repetitions in a Gene Cause Neuron Death In ALS – ALS News Today

Posted: July 25, 2017 at 11:47 am

Scientists have known for some time that abnormal DNA repetitions in the C9orf72 gene contribute to neuron death in ALS and frontotemporal dementia.

Now they have learned how it happens: The anomalies leave DNA susceptible to damage, prompting a cell repair mechanism to become over-active. That hyperactivity cause neuron deaths.

The study,C9orf72 expansion disrupts ATM-mediated chromosomal break repair, waspublished in the Nature Neuroscience.

Too many DNA repetitions in theC9orf72 gene are the most common genetic cause for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia, the researchers wrote. Growing evidence suggests that C9orf72 repeat expansions also contribute to a wide spectrum of neurodegenerative diseases, such as Alzheimers, Huntingtons, multiple sclerosis, Parkinsons disease and cerebellar ataxias.

The team wanted to learn how the DNA expansions in the C9orf72 gene trigger neuron death in ALS and frontotemporal dementia. Studying neurons in human tissue and rats, theydiscovered that the expansions interact with RNA molecules to form what are called R-loops.

R-loops make DNA more susceptible to breaking. This susceptibility triggers the excessive activation of a cell repair mechanism called autophagy.

Autophagy is useful to cells that need to eliminate and recycle old or faulty molecules or components. But if it is too active, cells end up eating themselves, leading to neuron death.

The researchers were able to prevent neuron damage by fine-tuning the activity of DNA repair mechanisms.

We were able to shut down the out-of-control degradation process, which runs down the cells ability to fix genomic breaks, Sherif El-Khamisy, the studys co-senior author, said in a news release written by Clara Rodrguez Fernndez. Even though the DNA was still damaged, the cells were able to cope and did not die.

By learning how DNA repetitions cause neuron death, the team believes it has helped thescientific community take a step toward understanding the mechanisms underlying the development of movement neuron diseases such as ALS.

More research needs to be done, but its possible that this newly discovered mechanism contributes to the death of nerve cells in people suffering from diseases such as Alzheimers, Parkinsons and during the aging process, El-Khamisy said. Im really excited [that], if we modulate this degradation process, we can preserve our DNA repair toolkit and take away the pathology, the cell death.

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Scientists Learn How Abnormal DNA Repetitions in a Gene Cause Neuron Death In ALS - ALS News Today

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The First App Store For Your DNA Is Here – ExtremeTech

Posted: at 11:47 am

DNA testing is not new to consumers, but its a one-shot deal. You send in your sample, then you get to see ancestry and health data provided by the company you chose to use for testing. Some new insights might be added over time, but theres not much else you can do with that genetic data. A startup called Helix is counting on people being curious enough to drop cash in its DNA app store on a regular basis. The initial testing costs $80, and after that you can buy the applications you want.

Helix uses a type of genetic testing called DNA sequencing. Other companies like 23andme are using the far simpler genotyping; Helix is actually finding the pattern of nucleic acids (using flow cells like the one above) in your DNA for around 20,000 different genes, known as the exome. A genotyping test only tells you which variant you have of specific genes, so a full sequence generates about 100 times as much data. Helix is taking this approach because the company is not deciding what sort of data to show users. Instead, thats all up to third-parties that decide to sell DNA apps to people in the Helix store, and the full sequence includes more precision.

For consumers, the testing process is much the same as other services. You spit in a tube, send it off, and your results are available in a few weeks. The kit itself is only $80, whereas many other services cost around $200 for a testing kit. However, Helix expects people will buy at least a few DNA apps. It appears right now the only way to buy the testing kit is in combination with at least one app.

The apps come in various categories like family, fitness, and entertainment. These apps will be a bit more expensive than the ones for your phone, though. A company called Institome will tell you about your Neanderthal DNA and what that means for your health with its $30 app. Meanwhile, National Geographic had a population genetics app. This app is one of the more expensive at $70. You can also get a personalized scarf based on your genetic code for the low, low price of $150. It only costs a little less ($125) to find out what your genetic code says about your cholesterol levels.

Thats just a samplingHelix is launching with about 30 DNA apps for your perusal. Although, buying even a few of them will probably end up costing you quite a bit more than the genetic tests you can get from other providers. Still, Helix hopes youll come back over time and buy more DNA apps and form a long-term relationship with your genetic code. That would be a profitable relationship for Helix.

Now read: How DNA sequencing works

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The First App Store For Your DNA Is Here - ExtremeTech

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What is mitochondrial DNA depletion syndrome and how rare is Charlie Gard’s condition? – The Sun

Posted: at 11:47 am


The Sun
What is mitochondrial DNA depletion syndrome and how rare is Charlie Gard's condition?
The Sun
CHARLIE Gard's legal battle has come to an end as it was devastatingly revealed "time has run out" for the terminally ill tot. The tot's fight for life has touched the world as he suffered with mitochondrial DNA depletion syndrome but what it is the ...

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What is mitochondrial DNA depletion syndrome and how rare is Charlie Gard's condition? - The Sun

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Genome editing with CRISPR-Cas9 prevents angiogenesis of the retina – Medical Xpress

Posted: at 11:46 am

July 24, 2017 CRISPR-associated protein Cas9 (white) from Staphylococcus aureus based on Protein Database ID 5AXW. Credit: Thomas Splettstoesser (Wikipedia, CC BY-SA 4.0)

A research team from the Schepens Eye Research Institute of Massachusetts Eye and Ear has successfully prevented mice from developing angiogenesis of the retinathe sensory tissue at the back of the eyeusing gene-editing techniques with CRISPR-Cas9. Angiogenesis causes vision loss and blindness and is a feature of several degenerative eye conditions, including proliferative diabetic retinopathy (PDR), wet age-related macular degeneration (AMD), and retinopathy of prematurity (ROP). In a report published online today in Nature Communications, the researchers present a novel gene-editing technique to prevent retinal angiogenesis, which could lead to the development of new therapies for eye conditions marked by pathological intraocular angiogenesis.

Despite the success of vascular endothelial cell growth factor (VEGF) inhibiting agents (e.g. Lucentis, Eylea) in reducing neovascular growth and lessening vascular leakage in retinal diseases such as PDR and AMD, several therapeutic challenges remainnamely a need for sustained treatment and a modality to treat the significant number of patients who do not respond to anti-VEGF therapies.

"We know that vascular endothelial growth factor (VEGF) receptor 2 (VEGFR2) plays an essential role in angiogenesis," said corresponding author Hetian Lei, Ph.D., Assistant Scientist at Schepens Eye Research Institute of Mass. Eye and Ear and Assistant Professor of Ophthalmology at Harvard Medical School. "The CRISPR-Cas9 system to can be utilized to edit the VEGFR2 gene, preventing intraocular pathological angiogenesis."

A feature of various eye diseases, pathological intraocular angiogenesis presents clinically when blood vessels in the retina (the structure in the back of the eye that senses and perceives light) begin to grow new, abnormal blood vessels on the surface of the retina. As the damage progresses, these vessels can leak, rupture, or cause retinal detachment leading to impaired vision.

CRISPR-Cas9 is a powerful new technology that can target and edit certain aspects of the genome, or the complete set of genetic material of an organism. In the Nature Communications report, study authors used an adeno-associated virus (AAV) to deliver genomic edits to target VEGFR2, a critical protein responsible for angiogenesis. A single injection of this therapy was able to prevent retinal angiogenesis in preclinical models.

"As this genomic editing gains traction in virtually all medical fields, we are cautiously optimistic that this powerful tool may present a novel therapy to prevent vision loss in eye disease marked by intraocular pathological angiogenesis," said Dr. Lei. "While further study is needed to determine safety and efficacy of this approach, our work shows that the CRISPR-Cas9 system is a precise and efficient tool with the potential to treat angiogenesis-associated diseases."

Explore further: Researchers identify new target for abnormal blood vessel growth in the eyes

More information: Xionggao Huang et al, Genome editing abrogates angiogenesis in vivo, Nature Communications (2017). DOI: 10.1038/s41467-017-00140-3

The discovery of a protein that encourages blood vessel growth, and especially 'bad' blood vessels the kind that characterise diseases as diverse as cancer, age-related macular degeneration and rheumatoid arthritis ...

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Genome editing with CRISPR-Cas9 prevents angiogenesis of the retina - Medical Xpress

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Decoding human genome: Scientists creating yeast DNA from scratch – Zee News

Posted: at 11:46 am

New Delhi: Scientists say they are building yeast DNA from scratch, paving the way towards creating new organisms in the lab, amid huge scientific hurdles and public scrutiny.

The initiative being discussed at the New York City meeting in May - Genome Project-write (GP-write) - has been surrounded by worries over creating unnatural beings in the labs.

For the notable project, the group of researchers aim to synthesise from scratch all 23 chromosomes of the human genome and insert them into cells in the lab.

While scientists are yet to come to a conclusion on a specific road map for moving forward of the project, creating a human genome from scratch is a tremendous scientific and engineering challenge, which they believe will hinge on developing new methods for synthesizing and delivering DNA.

The GP-write consortium members believe that turning to human genome synthesis will also enable new cell therapies and other medical advances.

The overall project is still under development, and scientists are also unclear where funding will come from.

The synthetic genomes and chromosomes already constructed by scientists are by no means simple, but to synthesize the human genome, scientists will have to address a whole other level of complexity.

Our genome is composed of more than 3 billion bases across 23 paired chromosomes. And to synthesize the human genome could mean scientists will have to address a whole other level of complexity.

The GP-Write project is being managed by the Center of Excellence for Engineering Biology, a new non-profit organisation.

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Genome Medical Introduces Unique Service and Partners with Helix to Guide Consumers on the New Helix Marketplace – Markets Insider

Posted: at 11:46 am

SAN FRANCISCO, July 24, 2017/PRNewswire/ --Genome Medical, a nationwide genetic medical practice, today announced the launch of "Genetic Navigator," a telemedicine service that offers consumers virtual access to a network of clinical genetic experts. The service is available through a partnership with the personal genomics company Helix. Genetic Navigator is designed to guide and support consumers navigating Helix's newly launched marketplace for DNA-powered products.

When consumers begin browsing the product choices on Helix, they may have questions about which product to choose or have questions about their results. This is where Genome Medical comes in. The company's genetic experts can serve as trusted navigators to help find the right health product to meet the individual's need. And Genome Medical's Genetic Navigator is unique among the Helix partners -- it is the only expert consultation service linked directly to the marketplace.

Genome Medical can also help consumers move toward personalized healthcare by creating a clinical action plan that incorporates pertinent genetic findings into guidance for ongoing care.

"The Helix marketplace offers a unique way for individuals to explore their DNA and continue to gaingenetic insights over a lifetime. Genome Medical is the ideal partner to provide personalized, clinical guidance on this journey," said Lisa Alderson, Genome Medical CEO and co-founder. "Ourgeneticexperts first navigate individuals to the right test based on personal and family health history. We then help individuals realize the full potential of their genetic insights by integrating results from testing into recommended clinical care."

"Helix and Genome Medical have a shared mission to make genomics accessible and relevant to our everyday lives," said Justin Kao, SVP and co-founder of Helix. "By integrating expert genetic counseling services into our marketplace through our partnership with Genome Medical, we are ensuring that our customers have the opportunity to develop a deeper understanding of personal genomics. Together, Helix and Genome Medical will help people make informed choices about which products suit their needs and receive context and guidance to appropriately interpret their DNA results."

Genetic Navigator for Helix: How It WorksGenome Medical's Genetic Navigator service will be promoted on the Helix marketplace and will offer virtual access to professional clinical genetic experts.

Visit http://www.genomemedical.com/helix to learn more. The Helix marketplace can be accessed at http://www.helix.com.

About Genome MedicalGenome Medical, Inc. is a nationwide genomics medical practice. Our clinical genetics experts are dedicated to integrating genomics into everyday health care in order to improve health, accelerate disease diagnosis and lower the cost of care. We help both individuals and clinicians navigate the rapidly expanding field of genetic testing and use test results to make informed decisions.Genome Medical is headquartered in San Francisco. To learn more, please visit http://www.genomemedical.com or find us on Twitter @GenomeMed.

About HelixHelix is a personal genomics company with a simple but powerful mission: to empower every person to improve their life through DNA. We've created the first marketplace for DNA-powered products where people can explore diverse and uniquely personalized products developed by high-quality partners. Helix handles sample collection, DNA sequencing, and secure data storage so that our partners can integrate DNA insights into products across a range of categories, including health, fitness, nutrition, entertainment, family, ancestry, and more. From profound insights to just-for-fun discoveries, Helix is here to help people live a fuller life. Helix is headquartered in the San Francisco Bay Area, and has a CLIA- and CAP-accredited Next-Generation Sequencing lab in San Diego. Learn more atwww.helix.com.

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SOURCE Genome Medical, Inc.

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Tomorrow Night, Regent College, Adam and the Genome – Patheos (blog)

Posted: at 11:46 am

Since 1982 the Gallup Poll [a repost of RJSs post because tomorrow night Dennis and I will be giving a public lecture at Regent College(Vancouver) on our project] has been asking Americans about their views on evolution and human origins. This week they released the results of their most recent survey conducted in early May of this year (here). The question posed (with the order of options randomized):

Which of the following statements comes closest to your views on the origin and development of human beings:

The answers have changed modestly over the last 35 years, with the most significant change an increase in the percentage of those who are comfortable with no guidance at all. This has increased from 9 to 19% over the years, with a concomitant decrease in those who see God involved in the process in one way or another. The plot to the right summarizes the data reported by Gallup. Ive added error bars at the +/- 4% level reported for the current poll as this helps to clarify the reliability of the results.

The latest poll is noteworthy in that it marks the first time that creation in their present form within the last 10000 years was not the clear favorite and the first time this response dropped below 40%. Whether this is a blip (similar to the dip in 2010) or represents a trend remains to be seen. It is encouraging, however, that the drop in the young creation view is countered by an increase in those comfortable with God guiding development over millions of years rather than an increase in the no guidance position.

The Gallup report analyzes these results according to religious views, church attendance, and education level. There are no real surprises here those who attend church regularly are far more likely to agree choose the young creation view (65% of weekly attenders). The results also correlate strongly with education. The difference between the respondents with and without a college degree is striking. Postgraduate education has a smaller influence.

Is a change afoot? An enormous number of book have been published over the last decade wrestling with the questions of evolution and Christian faith. Ive reviewed or commented on several dozen books on this blog, with more on the way (I am not sure of the exact number Ive read and reviewed I stopped counting and returned to writing this post when I passed 36 on the shelves in my study). I am currently working through Adam and the Genome, Evolution and the Fall, Science and Christianity, and The Emergence of Personhood, three of which focus on the questions raised by human evolution.

Most of the books that have been, and are being, published work through the theological and biblical questions raised by evolution. This is significant. As a church we are digging into the important questions. These book are being published (often by relatively conservative Christian publishers) and are being read. At the recent BioLogos conference, one author noted that publishers who shied away from his work a decade ago as too controversial are approaching him about the possibility of publishing his next book.

Although resistance remains, I have found far more willingness to listen and understand than was common a decade ago. Dennis Venema recently made a similar observation on a post at BioLogos: A Decade of Evolutionary Creation: Milestones and Signposts.

Evolutionary creation is a viable option for understanding and making sense of Gods world.

Do you think there is an increased openness to evolutionary creation?

If so, what is driving this change?

If you wish to contact me directly you may do so at rjs4mail [at] att.net.

If interested you can subscribe to a full text feed of my posts at Musings on Science and Theology.

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This app analyzes your genome to help you lose weight – New York Post

Posted: at 11:46 am

Could your sweat (or saliva) be a clue to a successful weight loss regime?

The weight-loss app Lose It! and Silicon Valley DNA analytics start-up Helix on Monday released embodyDNA, a service that analyzes 16 different traits as they relate to weight loss, nutrition, fitness and sensitivities to certain foods. It measures everything from body mass index and the metabolism of nutrients to muscle mass and gluten tolerance to give people insights into their genetic makeup, says Kevin McCoy, senior vice president of business development at the Boston-based Lose It.

It costs $190 for a new customer or $110 if you are previous Helix customer. 23AndMe provides ancestry information, but there several other companies provide DNA analysis and nutrition programs to help with weight loss, including DNAFit, Fitness Genes and Nutrigenomix. They can cost as much as $289, depending on the plan. (Privacy policies vary for each service, but Lose It users must opt into their data being aggregated anonymously for future research.)

There are over 100 locations across the genome that play roles in various obesity traits, according to this 2015 study of more than 500,000 genetic samples published in the journal Nature by researchers at the University of Michigan. The large number of genes makes it less likely that one solution to beat obesity will work for everyone and opens the door to possible ways we could use genetic clues to help defeat obesity, senior study author Elizabeth Speliotes said.

But other more recent studies put less emphasis on the link between obesity and DNA. While genotype plays a role in obesity, another 2016 study in the British Medical Journal found that individuals carrying a gene that might give them a propensity for obesity respond equally well to a change in diet, physical activity and/or drug-based weight loss treatments. A genetic predisposition to obesity can be at least partly counteracted through such interventions, it concluded.

Some fitness experts are also sanguine about the usefulness of these DNA analytic services for dieting. Anne Machalinski, a writer for Self magazine and marathon runner, tried Fitness Genes service and was told she had an increased obesity risk and had muscles that recovered quickly from exercise. These recommendations are essentially common sense of the eat less and move more variety, she wrote for Self, plus a push for resistance, strength and high intensity interval training.

Still, as this 2016 study in the British Medical Journal concluded, DNA analysis can motivate people to lose weight. It can be a life or death decision: Weight gain in early and middle adulthood will increase health risks later in life, researchers at the Harvard T.H. Chan School of Public Health said last week. People who gained 5 to 22 pounds before aged 55 increased their risk of premature death, chronic diseases and decreased the likelihood of achieving healthy aging, it found.

On the plus side, theres also plenty of other common sense data to help people stay fit and healthy. Americans log nearly 6 percent more calories on Saturdays than any other day of the week, and an extra 3 percent calories than normal on Fridays, according to separate analysis of millions of calorie counters from Lose It! Breakfast and dinners on weekends when people are either with friends or kicking back are also a time for a spike in calories over other mornings (by between 6.5 percent and 7 percent).

And Americans who are keeping tabs on their weight might also do well to watch the clock. Snacks that are better for you such as nuts, vegetable slices or fruits peak at around noon, followed by a slightly smaller rise in savory and sweet snacks at that, according to market research company The NPD Group, but sweet snacks such as candy, chocolate and ice-cream peak in the evening just after 8 p.m. A third of snack and/or appetizers are consumed during lunch or dinner.

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Large malaria genome study highlights surprising number of potential drug targets – The Pharmaceutical Journal

Posted: at 11:46 am

Source: Sinclair Stammers / Science Photo Library

In the first large-scale study of malaria gene function, researchers at the Wellcome Trust Sanger Institute analysed more than half of the genes in the genome of one species of malaria parasite,Plasmodium berghei

The genomes of malaria parasites contain many genes of unknown function. However, knowing the genes and pathways that contribute to parasite growth is critical to guiding the discovery of new drug targets.

In the first large-scale study of malaria gene function, researchers at the Wellcome Trust Sanger Institute analysed more than half of the genes in the genome of one species of malaria parasite, Plasmodium berghei. To do this, they measured the growth rates in mice of 2,578 P. berghei knockout mutants, each of which were tagged with a unique barcode.

It was found that during a single blood stage of its life cycle, the P. berghei parasite requires around two-thirds of the genes looked at to develop normally.

Publishing their results in Cell[1] (13 July), the researchers say that this shows there are many more potential targets for new antimalarial drug development than previously thought.

Citation: Clinical Pharmacist, CP July 2017 online, online | DOI: 10.1211/CP.2017.20203236

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What’s next in consumer genetics? Helix’s ‘app store for your genome’ – Genetic Literacy Project

Posted: at 11:46 am

A Silicon Valley startup called Helix is betting on the notion that not only do people want to learn more about their DNA, but theyll also pay to keep interacting withit.

the company, which was founded in 2015 with $100 million from genomics giant Illumina, is launching its much-anticipated online hub where people can digitally explore their genetic code by downloading different applications on their computers or mobile devices. Think of it as an app store for your genome

From the consumer side, people will have to get their genes sequenced only once, then they can choose from different apps in categories like ancestry, fitness, health, and nutrition and pay as they go

One company, Exploragen, says it can tell you about your sleep patternslike whether youre a morning person or a night owl Another company, Dot One, willexamine the tiny portion of your genes that makes you different from everyone else and print that unique code onto a customized fabric scarf

A third company, Insitome, has an app that will determine what percentage of your DNA you inherited from Neanderthals and how those traits are relevant to your health.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion, and analysis. Read full, original post:A DNA App Store Is Here, but Proceed with Caution

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