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Daily Archives: July 25, 2017
What is mitochondrial DNA depletion syndrome and how rare is Charlie Gard’s condition? – The Sun
Posted: July 25, 2017 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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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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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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Decoding human genome: Scientists creating yeast DNA from scratch - Zee News
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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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This app analyzes your genome to help you lose weight - New York Post
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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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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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What's next in consumer genetics? Helix's 'app store for your genome' - Genetic Literacy Project
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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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Jeff Broin receives George Washington Carver Award – Wallace’s Farmer
Posted: at 11:46 am
Jeff Broin, CEO of POET, the worlds leading producer of biofuels, received the George Washington Carver Award at a July 24 ceremony at the BIO World Congress in Montreal. The Carver Award recognizes significant contributions by individuals in the field of industrial biotechnology and its application in biological engineering, environmental science, biorefining and biobased products.
I am very humbled by this award. George Washington Carver was an historic leader in finding new potential in agricultural products to meet the worlds needs, Broin said. Thats what we strive to do each day at POET, whether its producing biofuel from starch and cellulose or finding new or better ways to produce co-products such as distillers grain, corn oil, fiber, liquefied CO2 and more. I believe agriculture is the key to solving many of our worlds challenges.
Related: POET DSM Opens First Commercial Cellulosic Ethanol Plant in the U.S.
Creating new markets for ag products
Carver was a true visionary," Broin said. "At POET, we follow that vision, developing additional products and bioprocesses to replace petroleum-based products. We believe the agricultural potential of the world is virtually untapped. The world is beginning to learn that we need to return to the sun, the soil and the seed.
Jeff Broin is one of the great innovators and entrepreneurs in the industrial biotechnology sector, said Brent Erickson, executive vice president of BIOs Industrial & Environmental Section. He ranks among the most influential leaders in agriculture as well. Biofuels have created new markets for agricultural products and rejuvenated rural America. Jeff Broin has positioned POET at the forefront of developing cellulosic ethanol and improving the economics of biofuel production.
As POET CEO, Broin grew the company from a 1-million-gallon-per-year facility in 1987 into the world's largest biofuels producer, with 1.8 billion gallons of annual fuel production and 10 billion pounds of high-protein animal feed, among other products.
Success in developing new technology
Broin says POET has always placed a high priority on research, from the laboratories at its headquarters in Sioux Falls, South Dakota, to its pilot plant/research facility in Scotland, South Dakota, to its commercial-scale demonstration cellulosic biofuel plant in Emmetsburg, Iowa, as part of POET-DSM Advanced Biofuels. This focus has led to industry-leading technology such as BPX (POETs proprietary no-cook production process), total water recovery technology, unique corn oil and distillers grains products, cellulosic biofuel development and more.
The George Washington Carver Award is also sponsored by the Iowa Biotechnology Association. Joe Hrdlicka, executive director of the Iowa Biotechnology Association, said, Jeff Broin has created an environment at POET where new ideas thrive throughout the value chain of new economic opportunities for American agricultural producers and rural communities. His business model truly reflects the ideas and passion spawned by George Washington Carver a century ago.
Past Carver Award Recipients:
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Mutation explains why some men live to 100 – ISRAEL21c
Posted: at 11:46 am
Just as smaller animals of a given species generally live longer than their larger cousins, one might expect that taller humans are genetically programmed to sacrifice longevity for height.
But its not that simple.
A major multinational study of 841 men and women from across four populations found lower levels of insulin-like growth factor 1 (IGF-1) in men living to age 100 and yet most of them were taller than men in the younger control group.
The apparent explanation for this head-scratcher is that some long-lived men and only men have a genetic mutation that makes their growth hormone receptors more sensitive to the effects of the hormone. The cells absorb less growth hormone, yet protein expression is increased by several times.
This mutation seems to be responsible for their ability to live about 10 years longer than the control group of 70-year-old men without the mutation, even though they have a lower amount of growth hormone and are about 3 centimeters (1.18 inches) taller.
The lead author of the study is Prof. Gil Atzmon of Albert Einstein College of Medicine in New York and head of the Laboratory of Genetics and Epigenetics of Aging and Longevity at the University of Haifa. Since 2001, Atzmon has been studying the human genome and its impact on aging and longevity.
Longevity genes
The researchers working with Atzmon looked at four elderly populations: 567 Ashkenazi Jews in the Longevity Genes Project at Einstein, 152 from a study of Amish centenarians, and the rest from an American cardiovascular health study and a French longevity study.
In 2008, the Longevity Genes Project found a genetic mutation in the IGF-1 receptor of some women, though its not the same as the one affecting mens lifespan.
We knew in the past that genetic pathways associated with growth hormone were also associated with longevity and now we have found a specific mutation whose presence or absence is directly related to it, said Atzmon.
This study makes it an established fact that there is a relationship between the function of the growth hormone and longevity. Our current goal is to fully understand the mechanism of the mutation we found to express it, so that we can allow longevity while maintaining quality of life, he added.
The 16 researchers involved the study, published June 16 in Science Advances, are associated with institutions in Israel and France as well as the US states of New York, Maryland, California, Vermont, Massachusetts and Washington.
Clue to longer life
While more research is needed to understand why the receptor mutation affects longevity and why it happens only in men, the study suggests that making a slight change in this specific piece of DNA could possibly make people live longer.
Although the presence of the mutation almost certainly ensured longevity, Atzmon stressed that many other factors affect longevity and that many men without the mutation also live to 100 and older.
Atzmon is one of the principal researchers in the Longevity Genes Project at Einstein along with Israeli endocrinology specialist Dr. Nir Barzilai.
Their groundbreaking 10-year study of healthy Ashkenazi Jews between the ages of 95 and 112 and their children attempted to understand why humans dont all age at the same rate, and why only one in 10,000 individuals lives to 100.
The centenarians were found to have genetic protective factors (longevity genes) that overcame factors such as diet and lifestyle.
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Mutation explains why some men live to 100 - ISRAEL21c
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