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Category Archives: Transhuman News

Largest Genome Sequenced: Loblolly Pine's Genetic Code Is 7 Times Larger Than A Humans

Posted: March 21, 2014 at 5:44 am

According to the study, the sequencing of the loblolly pine's genome was completed by using a faster and more efficient analytical process, including advanced computer technology. The genome sequence of the tree, which is the most commercially important tree species in the U.S., is expected to help scientists breed improved varieties of the pine and better understand the evolution and diversity of plants.

Its a huge genome, David Neale of the University of California, Davis, who led the research, said in a statement. But the challenge isnt just collecting all the sequence data. The problem is assembling that sequence into order.

The loblolly pine is one of several pines native to the southeastern U.S., spreading eastward from central Texas to Florida, and northward to Delaware and southern New Jersey. The tree is milled for building lumber and paper, while it is also the primary source of pulpwood and saw timber for the country's forest products industry.

To tackle the enormous size of the loblolly pine genome, which has 22 billion base pairs compared to only 3 billion in the human genome, scientists used a new method that could speed up genome assembly by compressing the raw sequence data 100-fold, according to the study, which has been published in two papers in the March 2014 issue of Genetics, and in one paper in the open access journal, Genome Biology.

As part of the study, scientists also looked for genes that control resistance to fusiform rust, a disease that infects southern pines and renders them unfit for use. According to scientists, they found a whole family of resistant genes in the loblolly pines genome.

Commercially, it is the most economically devastating disease of the southern pines, John M. Davis of the University of Florida, said in a statement. If growers didnt have genetic resistance, we would have no pine plantations its that important.

Floridas nearly 16 million acres of timberland supported economic activities that generated $14.7 billion in economic impact in recent years while providing nearly 90,000 full- and part-time jobs. A molecular understanding of genetic resistance is a valuable tool for forest managers as it allows them to select trees that can develop into healthy groves.

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Largest Genome Sequenced: Loblolly Pine's Genetic Code Is 7 Times Larger Than A Humans

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Loblolly pine genome is largest ever sequenced: Seven times bigger than the human genome

Posted: at 5:44 am

The massive genome of the loblolly pine -- around seven times bigger than the human genome -- is the largest genome sequenced to date and the most complete conifer genome sequence ever published. This achievement marks the first big test of a new analysis method that can speed up genome assembly by compressing the raw sequence data 100-fold.

The draft genome is described in the March 2014 issue of the journal Genetics and the journal Genome Biology.

Loblolly pine is the most commercially important tree species in the United States and the source of most American paper products. The tree is also being developed as a feedstock for biofuel. The genome sequence will help scientists breed improved varieties and understand the evolution and diversity of plants. But the enormous size of the pine's genome had been an obstacle to sequencing efforts until recently. "It's a huge genome. But the challenge isn't just collecting all the sequence data. The problem is assembling that sequence into order," said David Neale, a professor of plant sciences at the University of California, Davis, who led the loblolly pine genome project and is an author on the GENETICS and Genome Biology articles.

Modern genome sequencing methods make it relatively easy to read the individual "letters" in DNA, but only in short fragments. In the case of the loblolly, 16 billion separate fragments had to be fit back together -- a computational puzzle called genome assembly.

"We were able to assemble the human genome, but it was close to the limit of our ability; seven times bigger was just too much," said Steven Salzberg, professor of medicine and biostatistics at Johns Hopkins University, one of the directors of the loblolly genome assembly team, who was also an author on the papers.

The scale of the problem can be compared to shredding thousands of copies of the same book and then trying to read the story. "You have this big pile of tiny pieces and now you have to reassemble the book," Salzberg said.

The key to the solution was using a new method to pre-process the gargantuan pile of sequence data so that it could all fit within the working memory of a single super-computer. The method, developed by researchers at the University of Maryland, compiles many overlapping fragments of sequence into much larger chunks, then throws away all the redundant information. Eliminating the redundancies leaves the computer with 100 times less sequence data to deal with.

This approach allowed the team to assemble a much more complete genome sequence than the draft assemblies of two other conifer species reported last year. "The size of the pieces of consecutive sequence that we assembled are orders of magnitude larger than what's been previously published," said Neale. This will enable the loblolly to serve as a high-quality "reference" genome that considerably speeds along future conifer genome projects.

The loblolly genome data have also been freely available throughout the project, with public releases starting back in June 2012. "Our project has had great benefits to the community long before publication," said Neale.

The new sequence confirmed that the loblolly genome is so large because it is crammed full of invasive DNA elements that copied themselves around the genome. Approximately 82% of the genome is made up of these and other repetitive fragments of sequence.

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Loblolly pine genome is largest ever sequenced: Seven times bigger than the human genome

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Loblolly Pine Genome Largest Ever Sequenced

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March 20, 2014

Image Caption: Conifers are the predominant members of the 300 million year old Gymnosperm clade. Conifers are also distinguished by their leviathan genomes. The reference genome sequence of Loblolly pine is published in the March issue of the journal GENETICS, published by the Genetics Society of America. Its 22-Gb genome size, makes it the largest genome sequenced and assembled to date. Credit: Dr. Ronald Billings, Texas A&M Forest Service

Genetics Society of America

The massive genome of the loblolly pinearound seven times bigger than the human genomeis the largest genome sequenced to date and the most complete conifer genome sequence ever published. This achievement marks the first big test of a new analysis method that can speed up genome assembly by compressing the raw sequence data 100-fold.

The draft genome is described in the March 2014 issue of GENETICS and the journal Genome Biology.

Loblolly pine is the most commercially important tree species in the United States and the source of most American paper products. The tree is also being developed as a feedstock for biofuel. The genome sequence will help scientists breed improved varieties and understand the evolution and diversity of plants.

But the enormous size of the pines genome had been an obstacle to sequencing efforts until recently. Its a huge genome. But the challenge isnt just collecting all the sequence data. The problem is assembling that sequence into order, said David Neale, a professor of plant sciences at the University of California, Davis, who led the loblolly pine genome project and is an author on the GENETICS and Genome Biology articles.

Modern genome sequencing methods make it relatively easy to read the individual letters in DNA, but only in short fragments. In the case of the loblolly, 16 billion separate fragments had to be fit back togethera computational puzzle called genome assembly.

We were able to assemble the human genome, but it was close to the limit of our ability; seven times bigger was just too much, said Steven Salzberg, professor of medicine and biostatistics at Johns Hopkins University, one of the directors of the loblolly genome assembly team, who was also an author on the papers.

The scale of the problem can be compared to shredding thousands of copies of the same book and then trying to read the story. You have this big pile of tiny pieces and now you have to reassemble the book, Salzberg said.

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Loblolly Pine Genome Largest Ever Sequenced

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Eczema Lotion by Reverta – Video

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Eczema Lotion by Reverta
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Eczema Lotion by Reverta - Video

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Healthy Living with Dr. Jitka Lom: UNDERSTANDING PSORIASIS (1 of 2) – Video

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Healthy Living with Dr. Jitka Lom: UNDERSTANDING PSORIASIS (1 of 2)
DescriptionDr. Jitka Lom with ExpressCare shares expert advice on medicine and healthy island living.

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Healthy Living with Dr. Jitka Lom: UNDERSTANDING PSORIASIS (1 of 2) - Video

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Novartis Starts Secukinumab Vs Stelara Phase IIIb Head-to-head Psoriasis Study

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By RTT News, March 21, 2014, 02:45:00 AM EDT

(RTTNews.com) - Novartis ( NVS ) announced Friday that a new phase IIIb head-to-head study of IL-17A inhibitor secukinumab (AIN457) versus Stelara or ustekinumab in moderate-to-severe plaque psoriasis has started patient enrollment.

The company stated that a total of twenty-five secukinumab abstracts, including two pivotal phase III convenience studies to be presented for the first time, will be unveiled at the 72nd Annual Meeting of the American Academy of Dermatology or AAD, taking place in Denver, Colorado, USA from 21-25 March 2014.

"We are pleased to announce the start of CLEAR, our global phase IIIb head-to-head psoriasis study of secukinumab versus Stelara at the 2014 AAD annual meeting, which will provide further evidence regarding the benefit IL-17A inhibitor secukinumab brings to patients," said Tim Wright, Global Head of Development, Novartis Pharmaceuticals.

CLEAR (Comparison to assess Long-term Efficacy, sAfety and toleRability of secukinumab vs. ustekinumab), the new 52-week, multicenter, randomized, double-blind study, is the second head-to-head phase III study initiated with secukinumab, and will compare the long-term safety, tolerability and efficacy of secukinumab versus Stelara, a current standard-of-care therapy, in patients with moderate-to-severe plaque psoriasis.

The target enrollment for this global phase IIIb study is approximately 640 patients with sites in 25 countries across North America, Europe, Asia and Australia.

The primary endpoint measured at Week 16 is at least 90% reduction in the severity of psoriasis symptoms (redness, thickness and scaling) and the extent of skin affected by the disease, known as Psoriasis Area and Severity Index (PASI) 90. PASI 90 is considered the best evidence of efficacy and is therefore a more robust measure of the extent of skin clearance compared to the standard efficacy measures used in most psoriasis clinical studies.

The CLEAR study follows the pivotal phase III head-to-head FIXTURE study, which showed secukinumab was significantly superior to Enbrel in clearing skin. Enbrel is a current standard-of-care anti-TNF-alpha medication approved to treat moderate-to-severe plaque psoriasis, and results from the FIXTURE study were first announced in October 2013.

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Novartis Starts Secukinumab Vs Stelara Phase IIIb Head-to-head Psoriasis Study

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AbbVie to test Humira for treatment of fingernal psoriasis

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Article updated: 3/20/2014 10:51 AM

North Chicago-based AbbVie has started testing to evaluate the use of Humira as a treatment for fingernail psoriasis in patients with moderate to severe chronic plaque psoriasis, an area of unmet need.

Currently there are no approved treatments for fingernail psoriasis.

Since treatment options are limited, we welcome research that evaluates new options for patients suffering from this disease and are excited to start evaluating adalimumab in this patient population, said Dr. Phoebe Rich, M.D., clinical adjunct professor of dermatology at Oregon Health Sciences University.

Psoriasis is a noncontagious, chronic immune disease that speeds the growth cycle of skin cells and results in thick, scaly areas of skin. Psoriasis can also affect the fingernails causing pitting, discoloration, loosening and irregular contour of the fingernail. Although the prevalence of fingernail psoriasis in those with moderate to severe chronic plaque psoriasis is unknown, about 50 percent of the 125 million people worldwide with psoriasis have nail involvement.

Humira is currently originally developed for the treatment of rheumatoid arthritis in adults, but has erecently been expanded to treat moderate to severe ulcerative colitis and moderate to severe chronic plaque psoriasis.

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AbbVie to test Humira for treatment of fingernal psoriasis

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Scientists, parents join forces to identify new genetic disease in children

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PUBLIC RELEASE DATE:

20-Mar-2014

Contact: Erin Digitale digitale@stanford.edu 650-724-9175 Stanford University Medical Center

STANFORD, Calif. Scientists and parents have worked together to identify a new genetic disease that causes neurologic, muscle, eye and liver problems in children. The discovery was unusually fast thanks to a combination of modern gene-sequencing techniques, social media and old-fashioned detective work.

One important clue was that affected children cry without making tears.

The new disease, called NGLY1 deficiency, is described in a paper that will be published online March 20 in Genetics in Medicine, the journal of the American College of Medical Genetics and Genomics. The paper describes eight children with mutations in the gene coding for N-glycanase 1, an enzyme that recycles defective products from a cellular assembly line. Children who lack this enzyme have varying degrees of movement disorders, including a characteristic combination of muscle contractions that causes abnormal tremulous movements. They also have developmental delays and liver problems. The gene defect is so rare that until recently, finding eight affected individuals would have taken several years; instead, the children were found in a matter of months.

"This represents a complete change in the way we're going about clinical medicine," said Gregory Enns, MB, ChB, associate professor of genetics in pediatrics at the Stanford University School of Medicine and co-lead author of the new paper. Gene-sequencing tools have sped the translation of findings between clinical and lab settings; in addition, scientists around the globe and lay people are contributing to the discovery process.

"This is happening so quickly because of the integration of the families with the researchers, and because so many people are coming at this from so many angles," said Enns, who is also a geneticist at Lucile Packard Children's Hospital Stanford and Stanford Children's Health. Other co-authors of the paper come from 12 research institutions across the United States, Canada, Germany and the United Kingdom.

"The relief of finally getting a diagnosis is just life-changing," said Kristen Wilsey, mother of Grace Wilsey, 4, who was the second American patient, and among the first few in the world, to be identified with NGLY1 deficiency. Grace's diagnosis was a pivotal moment not just for her San Francisco Bay Area family but also for defining the new disease, since the comparison of multiple patients allowed researchers to confirm that the disease existed.

The enzyme that is missing in NGLY1-deficiency patients is normally found in cells throughout the body. N-glycanase 1 helps break down incorrectly shaped proteins so their components can be reused. The new research confirmed that children with a defective NGLY1 gene do not make the N-glycanase enzyme. The researchers also observed that the children's liver biopsies contained an amorphous substance, which they suspected was an accumulation of protein that did not get recycled.

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Scientists, parents join forces to identify new genetic disease in children

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Kids who don't cry: New genetic disorder discovered

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Grace Wilsey was born with NGLY1 deficiency, which is caused by two mutations in the NGLY1 gene.

STORY HIGHLIGHTS

(CNN) -- What do you do when your baby lies limp in your arms, staring blankly into the distance while never crying?

What do you do when tests show signs of liver damage and your baby's seizures won't stop, but doctors can't tell you what's wrong or how to fix it?

Thanks to the Human Genome Project, which was completed in 2003, identifying new genetic mutations has gotten easier and cheaper. But geneticists often struggle to find patients who share these rare DNA quirks. Studying multiple patients with the same gene mutations and similar symptoms is crucial to identifying a new genetic disorder.

That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable.

The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

And they credit an "Internet blog" with bringing the patients and scientists together.

Grace's genome

Grace Wilsey's parents knew something was wrong right away. Their newborn daughter was lethargic. Her eyes seemed hollow and unfocused. She refused to eat. Doctors at the hospital ran multiple tests, but couldn't come up with a diagnosis.

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Gene Sleuths and Social Media

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By Duke Medicine News and Communications

DURHAM, N.C. By combining the modern tools of gene-sequencing and social media, a team of researchers has confirmed the identification of a new genetic disorder that causes severe impairments in children.

The new disease, called NGLY1 deficiency, is reported online in the March 20, 2014, issue of Genetics in Medicine, the journal of the American College of Genetics and Genomics. The study describes the disease in eight patients, confirming the work of Duke Medicine scientists who originally identified the genetic mutation in a single young patient in 2012.

Children with the genetic mutation have a distinctive inability to produce tears when they cry, but also have movement disorders, developmental delays and liver problems. The genetic defect is so rare that without social media, the eight affected children would have remained unknown to each other and to scientists, but instead were connected within months.

After we got the original diagnosis, we worked really hard to find additional cases to confirm that we got it right, said senior author David Goldstein, Ph.D., director of the Center for Human Genome Variation at Duke. While we were working hard but making slow progress, the original family was writing about their experience and connecting with others on social media. They were able to find several more potential patients to be tested. This experience really brought home to all of us just how important family engagement is to this work and how important it is to think hard and long about every patients genome.

Duke researchers and scientists across two continents worked to sequence the entire genomes and exomes of the individual patients, revealing the newly identified genetic defect that was shared among them all.

The mutation causes a deficiency of the N-glycanase 1 enzyme, which is crucial in the process of recycling misshapen proteins so their components can be reused. In children with a defective NGLY1 gene, the proteins build up, resulting in impairments.

Because of the unusual clinical presentations - notably the absence of tears along with liver abnormalities - parents of other affected children in distant places recognized these features when they read social media posts by the original family, said co-lead author Vandana Shashi, M.D., a medical geneticist at Duke who evaluated the first patient. This enabled other children to be quickly identified and diagnosed.

After the first patient underwent sequencing at Duke, since NGLY1 had not yet been associated with human disease and since this was the only patient with mutations in the gene, Goldstein and Shashi consulted the Ad Hoc Genetics Committee at Duke. Charged with the task of advising Duke researchers on scientific and ethical issues related to genomic research, the committee reviewed the clinical and genomic data on the patient and approved the communication of the NGLY1 mutations to the family as likely causing the childs clinical symptoms.

"The Ad Hoc committee recognized that this study was venturing into uncharted territory, and we wanted to make the right decision, said Nancy C. Andrews, M.D., Ph.D., dean of the Duke University School of Medicine who chaired the ad hoc committee at the time of the decision. The guiding principle was that we had to do what was in the best interests of the patient and his family. I am delighted that this was how it turned out, and that this important discovery also benefits other patients around the world."

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Gene Sleuths and Social Media

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