Monthly Archives: May 2017

DNA Could Power the Hard Drives of the Future – Geek

Posted: May 28, 2017 at 7:15 am

So we all know DNA stores the code that makes us well possible, right? Those Gs, Ts, Cs and As might not seem like much, but theyre effectively the same as computer code. Plus, unlike computers, DNA works at the molecular scale meaning that you can pack a metric crapload of information into a really, really tiny space. With the rise of HD, constant streaming, and mega media consumption, storing staggering amounts of data in molecular form might just be a necessity.

Scientists have already been working on DNA-based computer storage for a few years now. Harvard geneticist George Church has been the technologys standard bearer since 2011, and its already made some big leaps. So far weve managed to translate hundreds of megabytes holding everything from a computer virus to an Amazon Gift Card into DNA. But thats small-time. In the next few years, Microsoft believes it can bring a DNA-based storage solution online in a commercial data center by 2020.

Thats a little ambitious, but its not without reason. On top of being tiny, DNA is easy for us to read and as long as life is around, well probably keep some technology that can read and interpret DNA on hand. Plus, while the molecule isnt super stable in the long-term (anything past 10,000 years gets rough really quick, unlike some other media which can last for up to a few million years), you can use the same enzymes that we need to reproduce and make literally millions of copies in a few hours. Sure, each will have some mistakes in the code, but with error correction and other techniques, you could have an easily reproducible archive that would be almost impossible to destroy conventionally.

Thats amazing for everyone from researchers and archivists to universities. Plus, these sorts of applications all but eliminate DNAs biggest problem when it comes to storing data its not easily searchable. Once the enzymes get going, you can do a lot quickly, but if were storing massive amounts of data in these strands, finding specific bits of code might be tough. When used as archival solution, however, theres little concern.

The next big hurdle will be sequencing. Reading the DNA is expensive even today and still costs well into the hundreds. For most applications, thats far too much for daily use. Still, Microsoft clearly thinks the idea is worth the investment. Itll be cool to see how this pans out. Maybe, one day, well all have personal archives with all the data weve ever used or needed, carried around on a small disk inside which sits self-replicating DNA. Maybe thats really what the Matrix is not some dumbass battery, but using humans as computer data dumping sacs. Itd make a helluva lot more sense, at least.

In all seriousness, the amount of data our society is producing has increased and is continuing to increase exponentially. We wont have long at all before this becomes a critical problem, and DNA is one very convenient, albeit slow and expensive, solution.

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Monique Keiran: Beaver’s genome mapped for our 150th – Times Colonist

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To biologists, the beaver is known as Castor canadensis. Its scientific name flaunts unabashed ties to Canada. Its common English name, however, is the North American beaver.

The animal attracted shiploads of Europeans to North America, where they reshaped the landscape in much the same way beavers reshape wetland environments. However, Canada specifically acknowledged the role the large, smelly, flat-tailed rodent played (albeit reluctantly) in shaping European headgear and this countrys development. In 1937, the country made the beaver the go-to imprint on the nickel.

Another milestone in Canadas claim to the beaver occurred this year, when Canadian researchers published the animals genome sequence.

The leader of the research team, University of Toronto molecular genetics professor Stephen Scherer, says he chose the beaver genome because of Canadas 150th anniversary and to mark our territory.

After starting his work, Scherer learned researchers in Oregon were working on the North American Beaver Genome Project. He challenged his Canadian team to be first.

Six months later, they completed the sequence.

Making the victory even more Canadian, the team sequenced the genome using a new, made-in-Canada approach.

Ward is the 10-year-old beaver from the Toronto Zoo that donated tissue samples to the project. The new method allowed the scientists to assemble Wards genome from the ground up without relying on a reference genome.

Researchers first constructed a rough draft of Wards genome with long fragments of his DNA, then fleshed it out with shorter fragments. They then assembled the sum of messenger RNA found in Wards blood and tissue samples to serve as a scaffold for the genome.

Messenger RNA molecules carry precise recipes for beaver proteins from Wards DNA to his cellular protein-building machinery. Finally, the scientists compared their results with related mammal genomes and corrected the sequence manually.

According to the results, the genome of Castor canadensis or the North America beaver comprises 2.7 billion base pairs, which reside in the 40 pairs of chromosomes within the nucleus of each of Wards cells. Thats slightly less than the approximately three billion base pairs found in the human genome. Each chromosome contains hundreds to thousands of genes, which carry the detailed instructions for making beavers beavers or humans humans and offers insights into how the animal evolved in North Americas environments through time.

This is only the latest incident of Canadians scent-marking the beaver as a significant part of our historic, cultural and now scientific territory, but Canada has been part of the genome-sequencing movement since 1998, when it announced the Canadian Biotechnology Strategy, formed Genome Canada, and joined the Human Genome Project. British Columbia is home to one of Genome Canadas technology centres, and Canadian researchers are exploring how genomics can be used to fight disease, maintain health and safeguard forests, crops, and other species from invasive pests and climate change.

For example, scientists from B.C., France, Israel, the U.S. and elsewhere recently finished sequencing the sunflower genome one of the most challenging genomes published to date, says UBC professor Loren Rieseberg, a senior researcher.

As the only major crop domesticated in North America, the sunflower provides much fodder for research. It serves as a model for how new species arise and for understanding solar tracking and plant growth.

Not only have we sequenced the sunflowers genome, but we have also built physical and genetic maps of its structure, which increases the genomes value for research and breeding.

This lays the foundation for work to use the sunflowers stress resistance and ability to grow in different climates and conditions, including drought, to adapt other crops to climate change.

These are two recent genomic advances Canadians helped make happen. Perhaps, at some point in the future, genomics research will become as much a part of the Canadian identity as Castor canadensis is.

keiran_monique@rocketmail.com

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Monique Keiran: Beaver's genome mapped for our 150th - Times Colonist

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Scientists overcome pig genome flaw – Phys.org – Phys.Org

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May 24, 2017 by Sandy Fleming Credit: University of Kent

Through her work, Dr Rebecca O'Connor in the School of Biosciences, found previously undiscovered, fundamental flaws in the pig genome, the results of which have contributed to improved mapping of the pig genome.

In pigs which provide 43 percent of the meat consumed worldwide a chromosome defect can affect fertility.

With each pig producing as many as 14 piglets per litter, a faulty chromosome can reduce this by as much as half, with massive economic costs to the producer.

Dr O'Connor's research, carried out in the Griffin Laboratory, has led to the development of chromosome screening devices for both pigs and cattle and a chromosome screening service to multiple agricultural food providers.

Now with 13 clients in eight different countries, the team are screening hundreds of samples a year, as well as adapting the method to screen for chromosome abnormalities in other species.

The research findings were presented to agricultural industry leaders at the Pig Breeders Round Table Conference, one of the foremost international conferences on livestock genetics, held at the University of Kent in May 2017.

Explore further: From Mediterranean coasts to Tatra Mountains and beyond: Plant chromosome number variation

More information: R. E. O'Connor et al. Isolation of subtelomeric sequences of porcine chromosomes for translocation screening reveals errors in the pig genome assembly, Animal Genetics (2017). DOI: 10.1111/age.12548

Chromosome number is the most basic feature concerning the genome of a species, and it is known for about one third of higher plant species. In particular, for plants of Italy, Slovakia, and Poland, online chromosome number ...

In many animal species, the chromosomes differ between the sexes. The male has a Y chromosome. In some animals, however, for example birds, it is the other way round. In birds, the females have their own sex chromosome, the ...

In a study to be presented on Feb. 5 in an oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting, in San Diego, researchers will report that cell free DNA analysis ...

(PhysOrg.com) -- Researchers from The Australian National University have discovered that the male-specific Y-chromosome is shrinking and its happening at different rates across species.

Hokkaido University researchers have revealed that key sex-determining genes continue to operate in a mammalian species that lacks the Y chromosome, taking us a step further toward understanding sex differentiation.

In the beef industry, if a cow does not get pregnant after breeding, she becomes an economic liability in the herd. Lack of calf production can significantly reduce annual revenue for producers.

There are significant gaps in our knowledge on the evolution of sex, according to a research review on sex chromosomes from Lund University in Sweden. Even after more than a century of study, researchers do not know enough ...

(Phys.org)Eusocial insects are predominantly dependent on chemosensory communication to coordinate social organization and define group membership. As the social complexity of a species increases, individual members require ...

Scientists using a high-resolution global climate model and historical observations of species distributions on the Northeast U.S. Shelf have found that commercially important species will continue to shift their distribution ...

If you open Google and start typing "Chinese cave gecko", the text will auto-populate to "Chinese cave gecko for sale" just US$150, with delivery. This extremely rare species is just one of an increasingly large number ...

Plant scientists at the University of Cambridge have found a plant protein indispensable for communication early in the formation of symbiosis - the mutually beneficial relationship between plants and fungi. Symbiosis significantly ...

Almost 150 years after Charles Darwin first proposed a little-known prediction from his theory of sexual selection, researchers have found that male moths with larger antennae are better at detecting female signals.

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Genome Analysis Toolkit 4 (GATK4) released as open source … – Phys.Org

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May 25, 2017 Credit: Susanna M. Hamilton, Broad Communications

The Broad Institute of MIT and Harvard will release version 4 of the industry-leading Genome Analysis Toolkit under an open source software license. The software package, designated GATK4, contains new tools and rebuilt architecture. It is available currently as an alpha preview on the Broad Institute's GATK website, with a beta release expected in mid-June. Broad engineers announced the upgrade, as well as the decision to release the tool as an open source product, at Bio-IT World today.

The new version is built on a new architecture, allowing significant streamlining of individual tools and support for performance-enhancing technologies such as Apache SparkTM. This new framework brings improvements to parallelization, capitalizing on cloud deployment and making the process of analyzing vast amounts of genomic data easier, faster, and more efficient.

"We wanted to remove traditional barriers of scale while offering the same high level of data quality our users expect," said Eric Banks, Senior Director of Data Sciences and Data Engineering at Broad and a creator of the original GATK software package. "Thanks to the rapid adoption of cloud computing, researchers can finally do away with many of the infrastructure-related complications that have hampered progress, especially at smaller institutions and startups."

Today, more than 45,000 academic and commercial users worldwide rely on the GATK, running millions of analyses. The GATK is the industry standard for identifying SNPs and indels in germline DNA and RNAseq data. In addition to improving the performance of these established tools, GATK4 extends this scope of analysis to include copy number and structural variation, for both germline and somatic research applications.

Fully open source software

GATK4 will be released as a fully open source product, thanks in part to a collaboration between Broad Institute and Intel Corporation to advance high-performance analytics so researchers can study massive amounts of genomic data from diverse sources worldwide.

At the Intel-Broad Center for Genomic Data Engineering, software engineers and researchers have spent the last several months building, optimizing, and widely sharing new tools and infrastructure to help scientists integrate and process genomic data. GATK4 has benefited from this collaboration, which has helped engineers optimize best practices in hardware and software for genome analytics to make it possible to combine and use research data sets that reside on private, public, and hybrid clouds.

"Releasing GATK4 as open source was the obvious next step for our team," said Geraldine Van der Auwera, Associate Director of Outreach and Communications within the Data Science and Data Engineering group at the Broad Institute. "We believe it's the most effective way to support the community, and we hope it continues to grow, innovate, and help researchers make insights that are essential for future human health breakthroughs." "It is critical for progress in biomedicine that the software we use for analysing the genomes of millions of people is robust and well understood," said Ewan Birney, Director of EMBL-EBI and Chair of the Global Alliance for Genomics and Health (GA4GH). "Releasing GATK software with an open source license directly supports open innovation, data re-use and data re-analysis in the global biomedical community."

"The GATK tools are crucial for both germline and cancer analyses," said Robert L. Grossman of the University of Chicago Department of Medicine and an expert in biomedical informatics. "Releasing GATK4 as an open source software package will increase adoption, and benefit the community."

"Open sourcing the GATK is a big deal for open genomics, and for open science in general," said Jeremy Freeman, manager of computational biology at the Chan Zuckerberg Initiative (CZI). "Not only does it make this critical tool available to as broad as possible an audience for use, reuse, inspection, and contributionit provides a powerful example to the community for how an existing project can embrace open source."

"Open source code is a foundation of efficient biomedical research," said Brad Chapman, a research scientist at the Harvard T.H. Chan School of Public Health. "It enables reproducibility, reuse and remixing by removing barriers for sharing and distributing analyses. The Broad Institute's GATK team leads in the development of scalable, sensitive and specific variant calling algorithms, and open sourcing GATK4 will allow frameworks like Blue Collar Bioinformatics to make these methods broadly available to the scientific research community."

"Cloudera has always been a supporter and believer in the power of open source code," said Tom White, data scientist at Cloudera and a member of the Apache Hadoop PMC. "We've been excited to contribute to the GATK codebase, to make it run smoothly on Apache Spark and Cloudera. This next phase of the GATK, powered by Spark and open source software, will expand access and improve collaboration among genomic data scientists."

"The open sourcing of GATK4 is a great step for genomics, allowing for scalability and performance gains to be openly available to the research, biotech and pharmaceutical communities," said Jason Waxman, corporate vice president and general manager of Data Center Solutions at Intel. "GATK4, when run on Intel's new reference architecture, can achieve a 5X speed-up compared to earlier versions of the software."

"We at Google are excited to see this new release," said Ilia Tulchinsky, Google Cloud Healthcare Engineering Lead. "We've been collaborating with the Broad Institute for the past three years to enhance genomic processing on Google Cloud Platform. As a strong supporter for open source technology, we believe that making GATK available this way will facilitate its use by genomic scientists everywhere. As fellow collaborators with Intel, we particularly look forward to enabling researchers to run GATK4 on Google Cloud using the upcoming Intel Xeon processor Scalable family."

"The GATK is one of the most widely utilized software packages in the life sciences, and our team has worked very productively with Broad to accelerate it for use on Azure," said Geralyn Miller, Director, AI & Research, Microsoft. "This new model will greatly facilitate this effort going forward, and we are excited to continue and expand our efforts around GATK on Azure."

"With the open source launch of GATK4, there is an opportunity to create a global community that can collaborate together and advance the state of art in bioinformatics," said Hong Tang, chief architect at Alibaba Cloud, the cloud computing arm of Alibaba Group. "We look forward to closely working with Broad Institute in bringing the cloud-based GATK service to genomics customers in China, as well as in ongoing GATK research and development."

In addition to offering GATK4 as an open source toolkit, Broad Institute will continue to offer user support, training, and outreach on its popular user support forum. GATK4, like many of the Broad Institute's genome analysis tools, will be available through the Broad Institute's cloud based analysis platform, FireCloud.

Explore further: Google joins effort to boost genomics research

Google announced Wednesday it was teaming up with university scientists to use its computing platform to accelerate efforts in genomics research.

In a sign of the growing importance of the Internet "cloud," software group Cloudera said Monday it raised a whopping $900 million to expand its big data corporate services.

Microsoft has joined the Linux Foundation, the latest sign that the software giant is embracing open-source technologies it formerly treated with hostility.

Cloud computing is a more efficient and cheaper alternative for researchers wanting to access and analyse large amounts of human genomic data, a local study has found.

Apple today announced that its Swift programming language is now open source. As an open source language, the broad community of talented developersfrom app developers to educational institutions to enterprisescan contribute ...

Judging from technology-watching sites, Intel has something to worry about and it involves a rather well known place on the technology map called Redmond, Washington. Look for the sign that says Microsoft. There.

There are significant gaps in our knowledge on the evolution of sex, according to a research review on sex chromosomes from Lund University in Sweden. Even after more than a century of study, researchers do not know enough ...

(Phys.org)Eusocial insects are predominantly dependent on chemosensory communication to coordinate social organization and define group membership. As the social complexity of a species increases, individual members require ...

Scientists using a high-resolution global climate model and historical observations of species distributions on the Northeast U.S. Shelf have found that commercially important species will continue to shift their distribution ...

If you open Google and start typing "Chinese cave gecko", the text will auto-populate to "Chinese cave gecko for sale" just US$150, with delivery. This extremely rare species is just one of an increasingly large number ...

Plant scientists at the University of Cambridge have found a plant protein indispensable for communication early in the formation of symbiosis - the mutually beneficial relationship between plants and fungi. Symbiosis significantly ...

Almost 150 years after Charles Darwin first proposed a little-known prediction from his theory of sexual selection, researchers have found that male moths with larger antennae are better at detecting female signals.

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Newly-published spinach genome will make more than Popeye … – Phys.Org

Posted: at 7:15 am

May 24, 2017 Spinach plant, Castelltallat, Catalonia. Credit: Victor M. Vicente Selvas / public domain

"I'm strong to the finich, 'cause I eats me spinach!" said Popeye the Sailor Man.

While you may not gulp spinach by the can-fuls, if you love spanakopita or your go-to appetizer is spinach artichoke dip, then you'll be excited to know that new research out of Boyce Thompson Institute (BTI) will make it even easier to improve this nutritious and delicious, leafy green.

Today in Nature Communications, researchers from BTI and the Shanghai Normal University report a new draft genome of Spinacia oleracea, better known as spinach. Additionally, the authors have sequenced the transcriptomes (all the RNA) of 120 cultivated and wild spinach plants, which has allowed them to identify which genetic changes have occurred due to domestication.

"The spinach genome sequence and transcriptome variants developed in this study provide a wealth of valuable information that can be used to breed spinach with better disease-resistance, higher yield and better quality," asserted Zhangjun Fei, the project's lead researcher from BTI.

Better breeding for stronger spinach

Spinach, which is native to central Asia, is now cultivated worldwide, with a reported annual production of 24.3 million tons in 2014. Since it was first domesticated, gardeners and breeders have improved many agronomically important traits, such as leaf quality and nutrition, and over time these improvements have re-shaped the spinach genome. In turn, breeders today can use genomic information to speed up improvements, which is especially important for combatting significant diseases, like downy mildew.

Known as the 'late blight' of spinach, the downy mildew disease has devastated crops throughout California, and has recently popped up in Upstate New York. Armed with a better understanding of the spinach genome, the researchers have identified several genes that may confer resistance to the downy mildew pathogen. Once identified in a resistant variety of spinach, such genes could be quickly transferred to other, possibly more nutritious varieties, boosting their immune systems to fight this disease while still maintaining marketable traits.

Insights into spinach domestication

Of particular interest to the researchers is the discovery that the genomes of cultivated spinach varieties are not too different from their wild progenitors. When a plant is domesticated, its genome will evolve over centuries of selection. In many cases, it gets forced through a bottleneck of genetic changes necessary for cultivation, creating a very different plant from that which was first brought out of the wild. A great example is the comparison of maize (corn) to its ancestor, teosinte.

"By analyzing transcriptome variants of a large collection of cultivated and wild spinach accessions, we found that unlike other vegetable crops such as tomato and cucumber, spinach has a weak domestication bottleneck," explained first author, Chen Jiao.

This was great news because it means there is still much room for spinach improvement, but it also made it tougher to pinpoint genomic markers that could speed up the breeding process. Nonetheless, the team identified many regions in the genome directly attributable to the domestication process, that could be possibly linked to valuable traits, such as bolting, leaf number, and stem length

When asked for her favorite spinach recipe, first author Chen Jiao replied, "I usually make spinach salad for my family twice a week. It is very nutritious and easy to make. I just throw a handful of baby spinach, some croutons and fried bacon, and boiled eggs in a bowl and then drizzle all with bottled dressing."

So the next time you eat a luscious, green spinach salad, thank a scientist for keeping you healthy and strong!

Explore further: Dole recalls some spinach after salmonella found in sample

More information: Nature Communications (2017). DOI: 10.1038/NCOMMS15275

Dole Fresh Vegetables says it's recalling some of its bagged spinach distributed in 13 states as a precaution after a random sample tested positive for salmonella.

California officials say the E. coli bacterium recently discovered in U.S.-produced bags of spinach is found in nearly all Salinas Valley waterways.

Salinity and nutrient-depleted soil are two major constraints in crop production, especially for vegetable crops. In the January 2016 issue of the Journal of the American Society for Horticultural Science, researchers Chenping ...

California health officials said the strain of E. coli bacteria that has killed three people and sickened 201 others has been found near a spinach farm.

A natural compound hidden away in spinach has been shown to reduce food cravings between meals and could help prevent obesity, a Swedish scientist said on Monday.

Far from being a food spoiler, the fluorescent lighting in supermarkets actually can boost the nutritional value of fresh spinach, scientists are reporting. The finding could lead to improved ways of preserving and enhancing ...

There are significant gaps in our knowledge on the evolution of sex, according to a research review on sex chromosomes from Lund University in Sweden. Even after more than a century of study, researchers do not know enough ...

(Phys.org)Eusocial insects are predominantly dependent on chemosensory communication to coordinate social organization and define group membership. As the social complexity of a species increases, individual members require ...

Scientists using a high-resolution global climate model and historical observations of species distributions on the Northeast U.S. Shelf have found that commercially important species will continue to shift their distribution ...

If you open Google and start typing "Chinese cave gecko", the text will auto-populate to "Chinese cave gecko for sale" just US$150, with delivery. This extremely rare species is just one of an increasingly large number ...

Plant scientists at the University of Cambridge have found a plant protein indispensable for communication early in the formation of symbiosis - the mutually beneficial relationship between plants and fungi. Symbiosis significantly ...

Almost 150 years after Charles Darwin first proposed a little-known prediction from his theory of sexual selection, researchers have found that male moths with larger antennae are better at detecting female signals.

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Promising Results for Drug to Fight Arthritis Linked to Psoriasis … – Arizona Daily Star

Posted: at 7:13 am

FRIDAY, May 26, 2017 (HealthDay News) -- A new drug might help ease the pain and disability of a form of arthritis often linked to psoriasis.

According to Stanford University researchers, psoriatic arthritis is an inflammatory joint disorder tied to an out-of-control immune response. The disease affects about one in every 200 people and is often accompanied by the autoimmune skin disorder psoriasis.

Psoriatic arthritis typically arises after the age of 30 and can bring stiffness, pain and swelling of the joints, leading to real disability if treatments don't help.

The new study focused on more than 300 adult patients across 10 countries. These patients were no longer seeing an effect from standard biologic drugs or had never experienced a benefit in the first place.

"Only about half of psoriatic arthritis patients who are given TNF inhibitors get better," study lead author Dr. Mark Genovese said in a Stanford news release.

So, his team tried out a newer drug called Taltz (ixekizumab), already approved to fight psoriasis. The study was funded by the drug's maker, Eli Lilly & Co.

Patients were randomly assigned to receive injections of either Taltz or an inactive placebo. Over 6 months, about one-third got Taltz injections every two weeks, another third received the placebo every two weeks, while the remaining third received alternate injections of Taltz and the placebo.

More than half (53 percent) of those treated with the drug experienced at least a 20 percent reduction in the number of tender and swollen joints, compared to about 20 percent of those receiving the placebo, said Genovese. He's a professor of immunology and rheumatology at Stanford University Medical Center.

One expert in psoriatic arthritis was encouraged by the findings.

Taltz "is another new option for patients with psoriatic arthritis," said Dr. Waseem Mir, a rheumatologist at Lenox Hill Hospital in New York City. "The data shown in this article supports that certain patients who do not do well with other biologics that are in the market for psoriatic arthritis will now have another option for treatment of their painful disease," he said.

One potential side effect of these immune-focused drugs is a heightened vulnerability to infectious disease. However, Genovese said there was little difference in this regard between people taking Taltz and those on a placebo.

The study was published online May 24 in The Lancet.

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Risankizumab Treats Psoriasis More Effectively Than Other Antibody Drug – Medical News Bulletin

Posted: at 7:13 am

A recent randomized phase II clinical trial demonstrates that risankizumab treats psoriasis, a chronic immune-mediated inflammatory skin disease, more effectively than ustekinumab.

Psoriasis, a chronic immune-mediated inflammatory skin disease, affects 2% of adults and is associated with a poor quality of life, obesity, hypertension, diabetes, hypercholesterolemia, and metabolic syndrome. Researchers suggests that interleukin-23 (IL-23), composed of a p19 and p40 subunit, plays a significant role in the disease by inducing and maintaining inflammatory cells. Current strategies include monoclonal antibodies aimed at the different subunits of interleukin-23, including ustekinumab and risankizumab. Ustekinumab targets the p40 subunit, which is also found in IL-12, and thus acts against both IL-23 and IL-12. In contrast, risankizumab only targets the p19 subunit and selectively inhibits IL-23 activity. Clinical studies have shown that both drugs are safe, well-tolerated, and effective in treating psoriasis patients.

A recent randomized phase II clinical trial compared the efficacy, onset, and duration of clinical response between the two drugs in patients with moderate-to-severe psoriasis. Patients were randomly assigned to receive either a single 18-mg dose of risankizumab at week 0, a 90-mg or 180-mg dose of risankizumab at week 0, 4, and 16, or a dose of ustekinumab at week 0, 4, and 16. Patients were subsequently followed for 32 weeks after the final injection (total trial period of 48 weeks). The primary endpoint was a 90% or greater reduction from baseline in the PASI or Psoriasis Area Severity Index, which is an evaluation of erythema (redness), scaling, and percentage of body-surface area affected. In addition, the authors investigated safety end points including severe and moderate adverse events.

At the end of the study, a 90% or greater reduction in PASI was observed in 73% of patients in the 90-mg risankizumab group and 80% of patients in the 180-mg risankizumab group, compared with only 40% of patients who received ustekinumab. This indicates that a 90 and 180-mg dose of risankizumab is more effective in treating psoriasis than ustekinumab. The authors also found that the onset of risankizumab was earlier than ustekinumab, and the benefits were sustained for longer. Also, patient reports and skin biopsies further suggest that risankizumab was more effective in treating psoriasis and its associated morbidities than ustekinumab.

In conclusion, the randomized phase II clinical trial demonstrates that risankizumab is superior to ustekinumab in treating psoriasis and its associated morbidities. The onset and duration of beneficial effects are more profound and longer with risankizumab treatment. Although two patients developed basal-cell carcinoma and one had an adverse major cardiac event with risankizumab; the study had a small sample size and short duration, making it difficult to assess safety profiles. Nonetheless, the study suggests that selective blockade of IL-23, via p19 subunit inhibition, is more effective in treating psoriasis than inhibition of both IL-23 and IL-12. Future studies are required to confirm these results, and to better assess the safety profile of risankizumab.

Written By:Haisam Shah, BSc

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Open-access genetic screening for hereditary breast cancer is … – Medical Xpress

Posted: at 7:13 am

May 27, 2017 Micrograph showing a lymph node invaded by ductal breast carcinoma, with extension of the tumour beyond the lymph node. Credit: Nephron/Wikipedia

Ashkenazi Jewish women are known to have a predisposition to the inherited breast cancers BRCA1 and BRCA2, but currently genetic testing in this group is limited to women affected by breast and ovarian cancers and those who are unaffected but have a family history of the disease.

Ms Sari Lieberman, a genetic counsellor at the Shaare Zedek Medical Centre, Jerusalem, Israel, will tell the annual conference of the European Society of Human Genetics tomorrow (Sunday) that offering open-access BRCA testing to Ashkenazi women unaffected by cancer, regardless of their family history, enables the identification of carriers who would otherwise have been missed. Carrying one of the mutations for the BRCA genes means that women affected have a 50-80% risk of developing breast cancer and a 20-50% risk for ovarian cancer.

"We knew that half of these carriers have no family history of cancer, and therefore would not have been identified had the test been offered on the current personal and family history criteria," she says. "As a genetic counsellor, it is frustrating and saddening to see the results of this policy, where patients are often only identified as BRCA carriers once they have been diagnosed with cancer."

The researchers streamlined the pre-test process so that traditional genetic counselling, which can be time-consuming and difficult, was excluded. Instead they provided written information about the BRCA genes, the genetic test, and about the implications of being a carrier.

"Current strategies for testing focus on women who are 50 and older, which is not the optimal age for effective prevention. In order to address this, we would like to continue this study and look for other approaches that could include younger women," says Ms Lieberman.participants in the study either referred themselves or were recruited by health professionals. Two-year follow up of the 1771 women tested included looking at psychosocial outcomes and health behaviours. Both groups reported a high level of satisfaction (94%) and low stress. Those who had referred themselves tended to be more knowledgeable about breast cancer issues than those who were recruited.

"Among the 25 women carriers we identified, 94% expressed satisfaction and 92% endorsed the idea of population screening. Their stress was understandably higher, but it declined over time, and their knowledge was greater than in non-carriers. All of them had breast surveillance, and three underwent risk-reducing bilateral mastectomy. Of those aged over 40, fifteen out of a total of 16 had their ovaries and Fallopian tubes removed in order to reduce risk," Ms Lieberman reports.

The researchers say that their study provides convincing evidence that open access genetic testing overcomes major barriers; not just lack of family history, but also referral and bureaucratic barriers, and that it is acceptable to those likely to be affected and their families.

"We were concerned that 'low risk' participants, with no family history, might not be able to cope with being offered BRCA testing and particularly with positive test results. We also worried that being found not to be a carrier might provide false reassurance and cause women to think they had no cancer risk and therefore avoid standard surveillance. We were pleasantly surprised on both counts," Ms Lieberman will say. In fact, mammography screening rates did not decline post-test in non-carriers, and even increased in some.

Falling prices for genetic sequencing and new techniques to avoid evaluating irrelevant gene variants will most likely make mutation screening available to wider populations in the near future. "We believe that our results are useful and highly relevant for other populations. On a personal note, I hope that this new approach means that one day I will not have to counsel someone with no family history and therefore no awareness of increased risk who says to me that she only wished she had known before," Ms Lieberman will conclude.

Chair of the ESHG conference, Professor Joris Veltman, Director of the Institute of Genetic Medicine at Newcastle University, Newcastle, United Kingdom, said: "This important study highlights the importance of population-wide genetic screening to identify women at risk of developing breast and ovarian cancer because of a genetic predisposition. The study also showed that most people cope very well with this genetic information; carriers of these mutations undertake breast cancer surveillance, whereas non-carriers are aware they can still develop breast cancer.''

Explore further: Significant increase in number of women tested for BRCA gene, but many high-risk patients still missing out

Discovery of the BRCA genetic mutation in the mid-90s represented a breakthrough in breast and ovarian cancer prevention. About 5-10% of breast cancer cases and 10-18% of ovarian cancer cases can be attributed to two BRCA ...

Research looking at genomic data from women with a genetic risk for breast cancer, who may never develop cancer, found their cancer-free state may be related to a second genetic variation. Researchers at the George Washington ...

Professor Kelly Metcalfe, of U of T's Lawrence S. Bloomberg Faculty of Nursing, is leading the charge against hereditary breast and ovarian cancers by helping establish the standard protocol for addressing cancers associated ...

The genes BRCA1 and BRCA2 play a significant role in hereditary breast and ovarian cancers. Recent media attention has focused on American actress Angelina Jolie's decision to have her ovaries and fallopian tubes surgically ...

(HealthDay)The U.S. Preventive Services Task Force (USPSTF) recommends that BRCA1 and BRCA2 genetic testing be limited to women whose family histories are associated with an increased likelihood of having BRCA mutations.

Women who are members of families with BRCA2 mutations but who test negative for the family-specific BRCA2 mutations are still at greater risk for developing breast cancer compared with women in the general population, according ...

Ashkenazi Jewish women are known to have a predisposition to the inherited breast cancers BRCA1 and BRCA2, but currently genetic testing in this group is limited to women affected by breast and ovarian cancers and those who ...

Melanoma is a particularly difficult cancer to treat once it has metastasized, spreading throughout the body. University of Illinois researchers are using chemistry to find the deadly, elusive malignant cells within a melanoma ...

Earlier this week, for the first time, a drug was FDA-approved for cancer based on disease genetics rather than type.

A team led by Johns Hopkins researchers has discovered a biochemical signaling process that causes densely packed cancer cells to break away from a tumor and spread the disease elsewhere in the body. In their study, published ...

Swiss scientists from the University of Geneva (UNIGE), Switzerland, and the University of Basel have created artificial viruses that can target cancer. These designer viruses alert the immune system and cause it to send ...

All cancer tumors have one thing in common - they must feed themselves to grow and spread, a difficult feat since they are usually in a tumor microenvironment with limited nutrients and oxygen. A study at The University of ...

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Rare Gene Mutations Inspire New Heart Drugs – New York Times

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New York Times
Rare Gene Mutations Inspire New Heart Drugs
New York Times
Added to the existing arsenal of cholesterol-reducers and blood pressure medications, the new medications will drive the final nail in the coffin of heart disease, predicted Dr. John Kastelein, a professor of vascular medicine at the University of ...

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In The Age Of Digital Medicine, The Humble Reflex Hammer Hangs On – WXXI News

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Receiving a diagnosis in 2017 at least one made at a medical center outfitted with the latest clinical gadgetry might include a scan that divides your body into a bread loaf of high-resolution digital slices. Your DNA might be fed through a gene sequencer that spits out your mortal code in a matter of hours. Even your smartphone might soon be used to uncover health problems.

Yet nearly 130 years since its inception after decades of science has mapped out our neuronal pathways a simple knob of rubber with a metal handle remains one of medicine's most essential tools. I'm referring to the cheap, portable, easy-to-use reflex hammer.

This unassuming device can be invaluable in diagnosing nervous and muscular disorders, and in determining whether a patient's pathology lies in the brain or elsewhere in the body. It can also help curtail healthcare spending by preventing unnecessary, often expensive testing. Yet like so many major medical and scientific discoveries, the reflex hammer has humble origins, in this case: the basement of a Viennese hotel.

The inn was run by the father of Leopold Auenbrugger, an 18th century doctor who is considered to be among the founders of modern medicine. To gauge how much wine was left for customers, hotel employees would thump casks with their hands and listen for a dull thud or hollow tympany. Auenbrugger realized that the same technique now called "percussing" could be applied to the human torso to, say, determine how much fluid had built up around a diseased heart. He wrote as much in his 1761 paper New invention to detect diseases hidden deep within the chest.

Relflex hammer warfare

Thought to be more accurate than the human hand, it wasn't long before percussion hammers were being designed to more precisely diagnose disease. Competition ensued.

Scottish physician Sir David Barry's model, released in the 1820s, was the first. German doctor Max A. Wintrich's came shortly after and was more popular, but was not without its critics: "[Wintrich's hammer] is inconvenient to hold, it is rigid ... it required education to use it, and even then it does not fulfill its purposes," a rival inventor commented.

As neurologist Dr. Douglas J. Lanksa wrote in a 1989 paper on the many types of reflex hammers, "Some were T-shaped or L-shaped, others resembled battle axes, tomahawks, or even magic wands." He adds that no material was off limits: wood, ebony, whale bone, brass, lead, even "velvet-covered worsted" (a type of yarn).

As percussion hammer warfare waged on, doctors and scientists were also beginning to understand the concept of reflexes, or involuntary, near-immediate responses to stimuli that occur before any sensory information reaches the brain. Muscular jerks. Blinking. Sneezing. Gagging. All of these are automatic feedback loops between sensory and motor neurons that help us navigate our environment and protect us from danger.

In 1875, German neurologists Drs. Heinrich Erb and Carl Friedrich Otto Westphal were among the first to realize that eliciting a reflex by briskly tapping the tendons of major muscles might be useful. They felt the knee jerk or "patellar-tendon" reflex in particular could help assess nerve function.

Hammers specifically suited to test reflexes were soon developed, the first of which had the now classic shape we're accustomed to a thin metal handle with a triangular rubber head. Designed by American physician John Madison Taylor in Philadelphia in 1888 and modified ever since by many the simple device was heavy enough to elicit reflexes, and had round edges to ease impact. An entry level model runs just $2.25 on Amazon.

The Krauss hammer, developed by German-American physician William Christopher Krauss, was designed around the same time. It had two rounded heads: a large one for knees and a smaller one for biceps. Dr. Ernst L.O. Trmner's did too, but it also tapered to a thin end to assess skin reflexes. There were also the Queen Square hammer, the Babinski hammer, the Buck hammer and the Berliner hammer. The Stookey hammer flaunted a camel hair brush to get a better sense of touch sensation. The list goes on.

Past to present

Daniella C. Sisniega is a third year medical student at the Boston University School of Medicine. Last month at the American Academy of Neurology's annual meeting, she presented a poster explicating the reflex hammer's past.

"I'm fascinated by how the reflex hammer started out as a percussion hammer, but was [then] adapted to elicit reflexes and has been in every neurologist's tool box ever since," she told NPR. "I also did not know that the little rubber triangle was the first reflex hammer. I feel like I owe it an apology!"

Sisniega jokes about the lackluster quality of the inexpensive Taylors.

"The little tomahawk is included in the kit everyone receives when they enter medical school," she recalls. "The rubber is cheap and very light, while the other hammers are heavier on the head so that you can use the 'swing' of the hammer as opposed to the strength of the strike to test the reflex."

While attending the AAN conference myself, I asked multiple sclerosis expert Dr. Stephen Krieger about the role of the reflex hammer in modern medical diagnosis.

"We could argue about the nuances of the hammer the Queens Square, the Tomahawk, plastic handle, metal handle, weighted, flexible or rigid but the hammer itself is always in the hand. Reflexes tell the story of neurologic diseases of all sorts," he says.

Krieger explains how disorders of the brain, like a stroke or brain tumor, result in hyperactive reflexes, while conditions affecting muscles and peripheral nerves usually result in reduced or non-existent reflexes. Reduced reflexes are, for example, a common symptom of back pain due to degenerative disk disease.

Dr. Andrew Wilner, an assistant professor of neurology at the Mayo Clinic, recounted the story of one of his patients, who had back pain, weakness and numbness of the legs. Wilner was leaning toward a diagnosis of either Guillain-Barre Syndrome (GBS) an autoimmune disorder of peripheral nerves or a myelopathy, an injury of some kind to the spinal cord. Both conditions can lead to medical emergencies, but each requires drastically different treatment.

"The reflex hammer was arguably our most important tool in narrowing down the differential diagnosis," he says. "Had we found diminished or absent deep tendon reflexes, GBS would have been more likely. As it turned out, the patient had brisk pathological knee jerks, pointing to a lesion in the brain or spinal cord."

Based on these findings, Wilner ordered an imaging study of the patient's spinal cord, where a lesion was found as opposed to pursuing the costly tests involved in a GBS diagnosis.

Wilner feels that the simple art of interviewing and examining a patient can get overshadowed by the myriad new diagnostic technologies. When it comes to clinical tools, he feels, sometimes basic is better.

"Technology is glorious," admits Krieger, "and [it] will teach us things about patients that we could never have known or imagined. But the simple, elegant, inexpensive almost plebeian swing of the reflex hammer has a cost/benefit ratio that I think no advanced technology will likely ever match."

Bret Stetka is a writer based in New York and an editorial director at Medscape. His work has appeared in Wired and Scientific American, and on The Atlantic.com. He graduated from the University of Virginia School of Medicine in 2005. He's also on Twitter: @BretStetka

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