Monthly Archives: March 2014

Research Demonstrates First Genome Methylation in Fruit Fly

Posted: March 27, 2014 at 8:43 pm

Contact Information

Available for logged-in reporters only

Newswise March 27, 2013, Oakland, CA A group of scientists from Childrens Hospital Oakland Research Institute and UC Berkeley report the first mapping of genome methylation in the fruit-fly Drosophila melanogaster in their paper Genome methylation in D. melanogaster is found at specific short motifs and is independent of DNMT2 activity, published this month in Genome Research.

This paper represents a major advance in the study of DNA methylation in insects. No previous study has succeeded in pinpointing the location of DNA methylation in the fly genome. The common opinion in the field was that the fly does not have genomic methylation. But Drs. Sachiko Takayama and Joseph Dhahbi, co-first authors who carried out the key work, and Drs. David Martin and Dario Boffelli, who led the project, found otherwise. The authors were able to detect genomic methylation in the fly by solving the main technical hurdle: fly methylation is relatively rare, and they developed a sensitive method that allowed them to detect it.

Why is this finding important? Methylation is a stable chemical modification of the genome; in humans and other vertebrates it participates in controlling when and where genes are on and off, but its functions in other organisms are not understood. The finding suggests that genome methylation may have a hitherto uncharacterized function. While the authors still do not know what genome methylation does in the fly, they were able to find that the DNA sequence patterns that associate with methylation are very different from the patterns seen in humans, or in other animal or plant species to date.

Drosophila is one of the classic model organisms, with very well established tools to study its biology. The researchers description of methylation in the fly will facilitate the use of this powerful experimental system to study methylation. Drosophila has only one known enzyme that could establish DNA methylation, and the researchers show that this enzyme is not responsible for the methylation patterns they detected. The fly genome has been studied very deeply, but the finding suggests that a new enzyme lies undiscovered within it.

The research team also included additional researchers from CHORI and UC Berkeley. For a link to the paper and its authors, please click here.

About Childrens Hospital & Research Center Oakland Childrens Hospital & Research Center Oakland is a premier, not-for-profit medical center for children in Northern California, and is the only hospital in the East Bay 100% devoted to pediatrics. Childrens Oakland affiliated with UCSF Benioff Childrens Hospital on January 1, 2014. Childrens Oakland is a national leader in many pediatric specialties including hematology/oncology, neonatology, cardiology, orthopaedics, sports medicine, and neurosurgery. The hospital is one of only two solely designated California Level 1 pediatric trauma centers in the region, and has one of largest pediatric intensive care units in Northern California. Childrens Oakland has 190 licensed beds, over 500 physicians in 43 specialties, more than 2,600 employees, and a consolidated annual operating budget of more than $500 million. Childrens is also a leading teaching hospital with an outstanding pediatric residency program and a number of unique pediatric subspecialty fellowship programs.

Childrens research arm, Childrens Hospital Oakland Research Institute (CHORI), is internationally known for its basic and clinical research. CHORI is at the forefront of translating research into interventions for treating and preventing human diseases. CHORI has 250 members of its investigative staff, a budget of about $50 million, and is ranked among the nations top ten research centers for National Institutes of Health funding to childrens hospitals. For more information, go to http://www.childrenshospitaloakland.org and http://www.chori.org.

###

See original here:
Research Demonstrates First Genome Methylation in Fruit Fly

Posted in Genome | Comments Off on Research Demonstrates First Genome Methylation in Fruit Fly

Newborn screening: should whole genome sequencing be introduced?

Posted: at 8:43 pm

Current ratings for: Newborn screening: should whole genome sequencing be introduced?

Public / Patient:

0 0 ratings

Health Professionals:

0 0 ratings

Whole genome sequencing is becoming more popular in medical research. With its falling cost and increasing reliability, some scientists hail the process as being the future of genetic research. But should whole genome sequencing be used as a part of newborn screening programs? This is a question that researchers from McGill University in Canada say should be addressed.

The human genome is made up of over 3 billion genetic letters - A, C, G, and T. These are known as DNA nucleotides and represent pieces of DNA called adenine, cytosine, guanine and thymine. Whole genome sequencing (WGS) involves using advanced technology to determine the order of these nucleotides within the genome.

As well as enabling quicker and simpler gene discovery, scientists say that WGS may reveal previously unknown genes that contribute to diseases and that the process could lead to personalized treatment methods. Furthermore, WGS could lead to identification of lifestyle and environmental factors that affect genetic predisposition.

As a result of these potential benefits, some scientists say WGS should be offered as part of newborn screening programs.

At present, more than 60 countries have newborn screening programs. These include a blood spot test, which involves taking a few drops of blood from a newborn's heel and testing the blood for genetic, endocrine and metabolic disorders, including sickle cell disease and cystic fibrosis.

Original post:
Newborn screening: should whole genome sequencing be introduced?

Posted in Genome | Comments Off on Newborn screening: should whole genome sequencing be introduced?

Researchers replace one of yeasts chromosomes with a synthetic one

Posted: at 8:43 pm

The synthetic chromosome, with the site of every single change marked. Areas denoted in tan were deleted entirely.

Illustration by Lucy Reading-Ikkanda

A few years ago, researchers managed a technical tour-de-force: starting with short DNA sequences that were chemically synthesized in a machine, they built up an artificial bacterial genome and used it to replace the normal copy in living bacteria. But their artificial genome had only minor differences from the original, mostly tags that allowed its presence to be detected.

Today, a large international team of researchers took a major step beyond that. Like the team that worked in bacteria, they started with nothing but short, chemically synthesized pieces of DNA. Using those, they built up an entire chromosome in yeast, eventually replacing the yeast's normal copy. Although this involved less DNA than the bacterial genome, the team made radical changes to the DNA normally found in yeast, deleting most of the sequences that might be considered non-essential. Despite the elimination of 15 percent of the chromosome, the synthetic version worked fine, and the resulting yeast were difficult to distinguish from their normal peers.

In many ways, baker's yeast is a bit like a eukaryotic version of bacteria. Although it's got a collection of linear chromosomes in its nucleus (bacteria lack a nucleus and have a single, circular chromosome), the genome is very compact, with little in the way of the superfluous sequences that seem to make up the majority of the vertebrate genomes. It also has some of the features that make genetics so convenient in bacteria: it can carry extra genes in short, circular pieces of DNA called plasmids, and it's easy to shuffle DNA from these plasmids into the yeast's chromosomes.

No, not Electro Bolt. But human genetic augmentation is a lot closer than you think.

All of those conveniences were called upon to build up the synthetic chromosome. Short pieces of DNA made by chemical synthesis were combined into short pieces called "building blocks," which were 750 base pairs long. Each of these were stuffed into a bacterial plasmid. This work was considered so routine that the researchers relied on undergrads who enrolled in a class called "Build-a-Genome."

These building blocks were then dumped into a yeast cell with a partial yeast plasmid. Partial overlaps among the sequences ensured that the only way a viable yeast plasmid could emerge was if the yeast DNA repair system recombined them all, creating a 2,000- to 4,000-base-long fragment of chromosome called a "minichunk," inserted inside the yeast plasmid. These minichunks were then recombined into the normal chromosome, replacing the yeast's normal sequence. As more and more minichunks were added, the chromosome's normal sequence was gradually replaced by the artificial one.

The researchers targeted yeast chromosome III, which is normally 316,617 bases long. But they engineered their replacement to be significantly different. Some of the chromosome is composed of repetitive DNA and transposons that serve no known function; the researchers deleted that. They also got rid of introns, pieces of DNA that interrupt the normal coding sequence of genes but are spliced out of the mature RNA used to make proteins. Also on the chopping block: extra copies of genes that are found on other chromosomes (primarily tRNA genes). Backup copies of the genes that determine the yeast's mating type (yes, yeast have the equivalent of sexes) were also removed. In essence, the researchers created a junk-free chromosome.

When all was said and done, the chromosome had shrunk to 272,871 bases long, a drop of about 15 percent. (Amazingly, only 10 minor errors were introduced during this entire process. Good going undergrads!) Yeast carrying the synthetic chromosome were mostly indistinguishable from those with the normal one, with the primary exception being slower growth when a specific chemical was present.

More:
Researchers replace one of yeasts chromosomes with a synthetic one

Posted in Genome | Comments Off on Researchers replace one of yeasts chromosomes with a synthetic one

David Epstein, New York Times Best-Selling Author of 'The Sports Gene', to Deliver Presidential Keynote at 2014 AMSSM …

Posted: at 8:42 pm

Contact Information

Available for logged-in reporters only

Newswise NEW ORLEANS, La. David Epstein, author of the New York Times bestseller, The Sports Gene, will deliver the Presidential Keynote at the 23rd Annual Meeting of the American Medical Society for Sports Medicine (AMSSM) at the Hyatt Regency in New Orleans next week. In his keynote, Epstein will address the following:

How "nature versus nurture" in sports is a false dichotomy. Why Major League Baseball players need both the right physical "hardware" and "software" to be able to hit 100-mph fastballs. Where the 10,000-hours rule comes from and what the data from that famous study says. How the body types of athletes have changed faster than the gene pool of humanity has changed, and how that provides new information to help people find the right sport. Why the push for increased youth sport specialization is bad both for the health of youth athletes and their athletic development.

Epstein is currently an investigative reporter at the nonprofit newsroom, ProPublica. Prior to that, he was a senior writer at Sports Illustrated, where he focused on sports science and medicine. Epstein is perhaps best known for co-authoring the story that exposed the steroid use of Yankees third baseman Alex Rodriguez. He has a Masters degree in environmental science and was All-East as an 800-meter runner at Columbia University.

His presidential keynote will be held from 10:40 a.m. to 11:10 a.m. on Sunday, April 6, 2014 at the Hyatt Regency New Orleans. Registration is required for admittance. Media interested in being credentialed for the 2014 AMSSM Annual Meeting must contact Jessica Torres-Sosa, AMSSM Communications Manager, at jtorres@amssm.org.

About the AMSSM Annual Meeting: More than 1,400 sports medicine physicians from the United States and abroad come together to address advances and challenges in sports medicine through lectures and research. Learn more at https://www.amssm.org/ConferencesDetails.php?IDconf=58&Past=.

About the AMSSM: AMSSM is a multi-disciplinary organization of 2,500 sports medicine physicians dedicated to education, research, advocacy and the care of athletes of all ages. The majority of AMSSM members are primary care physicians with fellowship training and added qualification in sports medicine who then combine their practice of sports medicine with their primary specialty. AMSSM includes members who specialize solely in non-surgical sports medicine and serve as team physicians at the youth level, NCAA, NFL, MLB, NBA, WNBA, MLS and NHL, as well as with Olympic teams. By nature of their training and experience, sports medicine physicians are ideally suited to provide comprehensive medical care for athletes, sports teams or active individuals who are simply looking to maintain a healthy lifestyle. http://www.amssm.org

###

View original post here:
David Epstein, New York Times Best-Selling Author of 'The Sports Gene', to Deliver Presidential Keynote at 2014 AMSSM ...

Posted in Gene Medicine | Comments Off on David Epstein, New York Times Best-Selling Author of 'The Sports Gene', to Deliver Presidential Keynote at 2014 AMSSM …

Gene mutations in flies and humans produce similar epilepsy syndromes

Posted: at 8:42 pm

PUBLIC RELEASE DATE:

26-Mar-2014

Contact: Cathy Yarbrough press@genetics-gsa.org sciencematter@yahoo.com 858-243-1814 Genetics Society of America

Four years ago, University of Iowa scientists discovered that mutations in the prickle gene in Drosophila were responsible for much more than merely altering the bristles on the fly's body to point them in the wrong direction.

Prompted by a colleague's finding that PRICKLE gene mutations were responsible for triggering a form of epilepsy in humans, John Manak, Ph.D., who led the fly research team, took a closer look at the Drosophila prickle mutants. (PRICKLE refers to the human gene, while prickle is the Drosophila form of the gene.)

Through a series of experiments, Dr. Manak found that flies with prickle mutations had seizures with jerky movements of their wings and leg muscles that closely resembled the myoclonic form of epilepsy that affects patients with mutations in the human version of the gene. During myoclonic epileptic seizures, the patients' muscles involuntarily twitch and jerk.

In a 2011 paper about the discovery, the University of Iowa scientists also reported that valproic acid, the anti-convulsive drug, which has been used to effectively treat myoclonic epilepsy patients with PRICKLE gene mutations, also helped control seizures in the mutated flies. These findings suggested that the pathway responsible for seizures in flies and humans was conserved, and that flies with prickle mutations could now be used to screen new experimental therapeutic agents for this disorder. These experiments are now underway.

The scientists have continued to investigate Drosophila flies with the mutated prickle gene. They determined that the seizure threshold, the amount of electrical stimulation required to induce a seizure, was lower in flies with the prickle mutation than in the normal (control) Drosophila flies of the same age, demonstrating that these flies exhibited a classic characteristic of seizure susceptibility. In addition, muscle recordings after experimentally induced electric shock through the nervous system revealed that spiking activity, a measure of neuronal activity, was higher in the flies with the prickle mutations than in the control flies.

Using a technique that they developed for the study, the researchers also found that ataxia (or uncoordinated gait), which occurs in patients with myoclonic epilepsy, also occurs in flies with the prickle gene mutation. The ataxia was more severe in the Drosophila with two prickle gene mutations than in flies with one prickle gene mutated, suggesting that prickle dosage plays an important role in controlling seizures.

The University of Iowa researchers' most recent studies have identified the basic cellular mechanism that goes awry in the prickle mutant flies, leading to the epilepsy-like seizures, and these data will be presented at the GSA Drosophila Research Conference.

Read the original post:
Gene mutations in flies and humans produce similar epilepsy syndromes

Posted in Gene Medicine | Comments Off on Gene mutations in flies and humans produce similar epilepsy syndromes

UVA Links Gene to Stroke Risk, Finds Clues to Genetics of Many Diseases

Posted: at 8:42 pm

Charlottesville, VA (PRWEB) March 27, 2014

Researchers at the University of Virginia School of Medicine have identified a key gene variation linked to an increased risk of stroke. The discovery comes as part of a breakthrough in the understanding of what causes some people to produce too much homocysteine, an amino acid associated with stroke, cancer, dementia, hardening of the arteries and other diseases.

As part of their work, the researchers have developed a genetic test that can predict which people are at risk for producing too much homocysteine, and their discovery could lead to new treatments for the associated diseases.

The findings also show that the conversion of the enzyme methionine into homocysteine the primary focus of the researchers investigation plays an important role in controlling the activity of genes. That discovery could have significant implications for understanding stroke, cardiovascular disease and other conditions.

Excess Homocysteine While high homocysteine levels have long been suspected as a culprit in diseases, efforts to lower homocysteine in scientific trials have not produced health benefits. The new UVA research explains what may be happening to produce the elevated levels, suggesting that one gene in particular, GNMT, is being stimulated to work too hard. The researchers found four other genes that appear to play a role as well, though to a lesser degree.

What we found was a really striking result for a genome association study, said Stephen R. Williams, PhD, a postdoctoral fellow at UVAs Cardiovascular Research Center and UVAs Center for Public Health Genomics. Its hard to find something thats significant, and its hard to find something biologically relevant, and we did that five times over.

Risk for Stroke The researchers set out to determine why certain people metabolize methionine into homocysteine differently than do others. To do so, they reviewed the genomes of nearly 5,000 participants in two studies: the Vitamin Intervention for Stroke Prevention, a trial that aimed to prevent people from suffering a second ischemic stroke, and the Framingham Heart Study, which has followed participants cardiovascular health for decades. It was through that review that the researchers were able to identify the five critical genes, including one form of the ALDH1L1 gene associated with ischemic stroke in the Framingham study.

The researchers then determined that differences in the regulation of the GNMT gene are the main reasons for the variations in methionine metabolism in people. To reach that conclusion, they created a test based on the DNA from a person who was a high methionine metabolizer and DNA from a low metabolizer, to see how the DNA reacted when treated with methionine. What turned out was that the individuals who had higher post-methionine load homocysteine had higher gene-promoter activity, Williams said. That was really interesting, because it gave us a functional cause that partially explains why this may be happening and the genetics of why people may metabolize methionine differently.

The researchers were able to devise a risk score evaluating the risk for developing excess homocysteine based on which gene variations people have. If you had all of them, you are in the highest risk category, said UVA researcher Michle Sale, PhD.

The risk score actually predicts how an overall population would perform in the post-methionine load test, Williams explained. Thats genetic relevance thats actually leading to clinical prediction. So thats really cool.

Read the original:
UVA Links Gene to Stroke Risk, Finds Clues to Genetics of Many Diseases

Posted in Gene Medicine | Comments Off on UVA Links Gene to Stroke Risk, Finds Clues to Genetics of Many Diseases

Gene Expression Analysis Market (Gene Profiling, Bioinformatics, Data Analysis Software) worth $4.3 Billion by 2018 …

Posted: at 8:42 pm

(PRWEB) March 27, 2014

According to the new market research report, Gene Expression Analysis Market by Technology (DNA Microarray, Real-Time PCR, Next Generation Sequencing), Consumables (DNA Chips, Reagents), Services (Gene Profiling, Bioinformatics, Data Analysis Software) & Applications - Global Forecast to 2018, global gene expression analysis market estimated at $2.6 billion in 2013 and is expected to reach $4.3 billion by 2018, growing at a CAGR of 10.4% from 2013 to 2018.

Browse 72 market data tables and 20 figures spread through 227 pages and in-depth TOC on Gene Expression Analysis Market" - http://www.marketsandmarkets.com/Market-Reports/gene-expression-analysis-market-156613968.html.

Early buyers will receive 10% customization on report.

The Global Gene Expression Analysis Market (2013-2018) analyzes and studies the major market drivers and restraints in North America, Europe, Asia, and the Rest of the World (RoW).

Ask for Free PDF Brochure @ http://www.marketsandmarkets.com/pdfdownload.asp?id=156613968.

The global gene expression analysis market is witnessing a significant growth and will continue to do so in the next five years. The factors contributing to this growth are increased funding scenario worldwide, increased government involvement, developments in research for diseases like cancer, and the use of gene expression in drug discovery and personalized medicine. The Asian region is projected to have the highest growth rate with growth hinged at China, India, and Japan. Apart from Asia, countries such as Turkey, Brazil, and South Africa too have a high projected growth.

Inquiry Before Buying @ http://www.marketsandmarkets.com/Enquiry_Before_Buying.asp?id=156613968.

Over the years, gene expression analysis techniques have evolved significantly and are being widely used in the areas of diagnostics, drug discovery, and treatment of certain diseases. In the past few years, the market has witnessed significant technological advancements, as companies have introduced new products in the market. This technologically driven market has witnessed a large number of offerings by big as well as small companies. In order to be competitive in this market, companies must be focused on delivering superior quality products that are technologically advanced.

Various key growth strategies such as new product launches, acquisitions, expansions, agreements, partnerships, collaborations, and joint ventures were mainly adopted by key players such as QIAGEN N.V. (Netherlands), Agilent Technologies (U.S.), Illumina, Inc. (U.S.), Life Technologies Corporation (U.S.), and Roche Diagnostics Corporation (Switzerland). These players adopted these strategies to increase their market shares. For instance, in October 2013, QIAGEN acquired CLC bio, a leading bioinformatics analysis software provider. This acquisition will position QIAGEN as a leader in next-generation bioinformatics, with a focus on biological analysis and interpretation/reporting. Thus, companies are investing efforts and resources in these strategies to help them gain a competitive advantage in the gene expression analysis market.

Original post:
Gene Expression Analysis Market (Gene Profiling, Bioinformatics, Data Analysis Software) worth $4.3 Billion by 2018 ...

Posted in Gene Medicine | Comments Off on Gene Expression Analysis Market (Gene Profiling, Bioinformatics, Data Analysis Software) worth $4.3 Billion by 2018 …

Politically Incorrect Pipe Smoke – Video

Posted: at 8:42 pm


Politically Incorrect Pipe Smoke
Just me smoking the pipe making politically incorrect conversation. Remember, there is no such thing as a right to not be offended...

By: BaldPipeSmoker

Read more:
Politically Incorrect Pipe Smoke - Video

Posted in Politically Incorrect | Comments Off on Politically Incorrect Pipe Smoke – Video

Bill Maher gives good bad impression

Posted: at 8:42 pm

Written by: Matthew Griebel on March 27, 2014.

As if the city of Las Vegas was not politically incorrect enough, controversial comedian Bill Maher upped the ante Saturday night at the Pearl inside the Palms Hotel and Casino.

Every time I come to Las Vegas, my material always seems to shock everyone, said Maher. Who would have guessed there was so much morality in Sin City?

Maher was right. For an hour and half, Maher delivered an unapologetic set with plenty of jokes to offend the most close-minded and conservative of audience members.

The Palms and Maher have arranged a deal where he performs at the resort for two weekends every year. It is a sort of residency, but it allows Mafer to perform new material each night rather than using the same rehashed material. Those who saw Maher in his recent appearance at the Palms were treated to a new set of jokes.

COURTESY PHOTO

This is why I will always see him when he comes to town, said audience member Gina Ransic. I have seen Maher eight times over the years, and he keeps his jokes current. Sure, he may make fun of Sarah Palins stupidity every performance, but at least the punch lines remain fresh.

The former governor of Alaska, conservative Christians, Russia, Michele Bachmann, Mitt Romney, rednecks and many more were the subjects of Mahers comedic wrath Saturday night.

Making jokes about Vladimir Putin and Russia really do not require much thought, said Maher. All you need to do is sub Russian policies in for Republican policies, and replace Putin with any republican in office.

The missing Malaysian airplane did not receive much play by Maher despite it being the hot story of the time. However, he did have a theory on the planes whereabouts.

Continue reading here:
Bill Maher gives good bad impression

Posted in Politically Incorrect | Comments Off on Bill Maher gives good bad impression

YOUTUBE’S CENSORSHIP; JUST ANOTHER METHOD; & DON’T WRITE "BOMB" IN EMAILS – Video

Posted: at 8:42 pm


YOUTUBE #39;S CENSORSHIP; JUST ANOTHER METHOD; DON #39;T WRITE "BOMB" IN EMAILS
The personal is political, the political personal. When you see the big picture, you see how everything is connected.

By: KafkaWinstonWorld

Go here to see the original:
YOUTUBE'S CENSORSHIP; JUST ANOTHER METHOD; & DON'T WRITE "BOMB" IN EMAILS - Video

Posted in Censorship | Comments Off on YOUTUBE’S CENSORSHIP; JUST ANOTHER METHOD; & DON’T WRITE "BOMB" IN EMAILS – Video