Return on Investment

While the US government invested a hefty sum — $14.5 billion between 1988 and 2012 — in the Human Genome Project, it has reaped $59 billion in tax revenue and $965 billion in economic impact, Bloomberg reports. A new report from United for Medical Research and Battelle further indicates that the investment has lead to 53,000 genomics-related jobs and $293 billion in personal income.

"As the largest, single undertaking in the history of life sciences, the Human Genome Project has paid back extraordinary dividends on the US government's investment," said Carrie Wolinetz, president of United for Medical Research, in a statement.

As GenomeWeb Daily News notes, this report builds on a 2011 one from Battelle that showed $796 billion in economic output. Batelle Group Leader Martin Grueber, a co-author of the current report tells GWDN that the effect of the federal investment in genomics will continue to felt. "You are still going to get these impacts going forward as you look at the lineage of this effort, and the lineage of the research as it is applied in new ways in research, pharmaceuticals, diagnostics, energy, agriculture, and other applications," he says.

Expansion of Endangered Chimpanzee Label

The US Fish and Wildlife Service is seeking to label all chimpanzees as endangered, the Nature News Blog reports. Such a move could, as the New York Times says, enact a "major barrier to conducting invasive medical research on the animals for human diseases."

Currently, the US considers only wild chimps to be endangered, and this change would expand the coverage of the Endangered Species Act to all captive chimps, including ones in zoos, private homes, and research centers.

According to the Nature News Blog, primatologist Jane Goodall, speaking on the behalf of a number of animal welfare groups that had petitioned for the change, says it is "an important step toward saving our closest living relatives from extinction."

The Federation of American Societies for Experimental Biology says, however, that changing the status of chimpanzees "would make biomedical research using chimpanzees difficult" and "[we] believe the status change will negatively affect the health of both humans and great apes."

Under this rule, to study chimpanzees, researchers would need to establish that their research would contribute to their conservation and receive a permit, the Times adds.

In January, the National Institutes of Health announced that it planned to retire most of its research chimpanzees. The 60-day comment period on that plan recently ended, and the Times notes that the final decision has not yet been released.

The US Fish and Wildlife Service recommendation is open for its own 60-day comment period.

On Synergy and Synthetic Life

At the Singularity University conference, Craig Venter tells the Wall Street Journal that such a mix of entrepreneurs, computing, and others brings about "synergistic conversations." He adds that he attributes some of the success of his institute and work in synthetic biology to integrating a number of disciplines. When asked about his motivation and drive, Venter adds that he "wants to accomplish as much as I can in my lifetime. As a biologist, I know life is finite."

This Week in Genome Research

Using array comparative genomic hybridization data for 21,470 individuals, Baylor College of Medicine's James Lupski and colleagues considered the frequency with which deletions or other disruptive copy number variants appear in genes known for roles in recessive disease. As they report in Genome Research, the investigators unearthed more than 3,200 instances in which deletions affected one allele of a recessive disease gene, affecting 419 different recessive disease genes in all. The CNVs — which render individuals potential carriers of recessive disease — tended to occur in long genes and genes falling far from those contributing to dominant disease risk, study authors note. Based on their findings, they argue that "a complete recessive carrier screening method or diagnostic test should detect CNV alleles."

Pancreatic beta cells — insulin-secreting cells best known for their role in type 1 and type 2 diabetes — share certain expression profiles with neurons, another Genome Research study finds. A Swiss team assessed beta cell transcriptomics through deep RNA sequencing on purified beta cells from 11 individuals. Analysis of the sequences, which included comparisons with neighboring islet cells, helped the group unearth expression and splicing signatures distinct to beta cells as well as variants suspected of regulating beta cell expression patterns. Consistent with past reports, the study's authors saw that at least some genes showing enhanced expression in pancreatic beta cells overlapped with those believed to contribute to neuronal activity.

A Vanderbilt University-led group describes genetic changes to EGFR mutant lung cancers that may help render the cancers resistant to tyrosine kinase inhibitors that target EGFR alterations. By sequencing and comparing five drug-resistant EGFR mutated lung cancer cell lines and four sensitive lines, researchers uncovered known contributors to TKI treatment resistance, including MET gene amplifications or secondary mutations to the EGFR gene. They also saw several new variants — along with an over-representation of copy number changes — in the resistant lines. "These results demonstrate a framework for studying the evolution of drug-related genetic variants over time," the team writes, "and provide the first genome-wide spectrum of mutations associated with the development of cellular drug resistance in an oncogene-addicted cancer."

The Proteomics of the Iceman's Death

Just how Ötzi, the Tyrolean Iceman who died more than 5,300, met his demise isn't quite clear. His well-preserved body shows evidence of both an arrow wound to the shoulder and, more recently discovered, a blow to the head.

One theory, Discovery News says, is that the arrow severed his subclavian artery, and he bled to death. Another, though, says that that injury caused him to lose consciousness, and he then died of a blow to the head, either by falling and hitting his head or by his attacker hitting him with a rock or similar object.

A group of European researchers led by first author Frank Maixner from Institute for Mummies and the Iceman at EURAC in Italy that provides some proteomic evidence for the second scenario, Discovery News says.

As they report in Cellular and Molecular Life Sciences, Maixner and his colleagues examined two brain samples from Ötzi using both gel-based and liquid chromatography mass spectrometry-based proteomic techniques. From this, they identified more than 500 proteins, 41 of which are known to be highly expressed in the brain and nine that are specific to the brain. In addition, they note that they found 10 proteins related to blood and coagulation.

"An enrichment analysis revealed a significant accumulation of proteins related to stress response and wound healing," Maixner and his colleagues write. "Together with atomic force microscope scans, indicating clustered blood cells, our data reopens former discussions about a possible injury of the Iceman's head near the site where the tissue samples have been extracted."

Kangaroo Poo-dentification

Researchers from the University of Adelaide's Australian Centre for Ancient DNA and Environment Institute have developed a genetic test that identifies kangaroo species from their droppings.

The PCR-based test categorizes the marsupials based on species-specific DNA fragmentation patterns. These patterns were obtained from DNA extracted from hundreds of samples collected across northeastern Australia.

The developers say they've already used the test to identify a number of kangaroo species that occur well outside their known range, which has important implication for population management and conservation.

"The more information on the distribution of species, the better management decisions can be made, particularly in gauging potential land-use and climate change impacts on biodiversity," says Jessica Wadley, PhD student and lead author of paper published in Wildlife Research that describes the test, in a statement.

For example, it could be used "to rapidly and cheaply identify the source of kangaroo meat and products to detect illegal hunting of protected species," adds Jeremy Austin, ACAD's deputy director and co-author of the study.

And No More

A 2011 Proteome Science paper from a Spanish research team reviewing strategies for clinical phosphoproteomic studies has been retracted due to plagiarism and duplication, reports Adam Marcus at Retraction Watch.

According to the retraction notice, the paper from first and corresponding author Elena López at Hospital Universitario 12 de Octubre in Madrid, Spain, "has been regretfully retracted by the Editors because of significant overlap with a figure and text from previously published articles." Marcus notes that the overlap is with articles by the same researchers as well as by others.

This Week in PNAS

In the early, online edition of the Proceedings of the National Academy of Sciences, researchers from France, the US, and the Netherlands report on findings from a sequencing study of the algae-infecting virus PgV-16T — the most massive DNA virus found in eukaryotes so far. Using sequence reads from PgV-16T grown in the phytoplankton species Phaeocystis globosa, the group pieced together a nearly 460,000 base genome assembly de novo. In addition to characterizing the protein-coding content of the genome itself, the researchers went on to look at PgV-16T's place in a viral phylogenetic tree, determining that it's more closely related to a clade of hefty viruses known as Megaviridae than it is to other microalgae-infecting viruses.

Another PNAS study uses transcriptome sequence data from horses, donkeys, and crosses between the two to look at gene expression patterns and imprinting in the placenta. The study, done by a Cornell University team, revealed preferential expression of paternal alleles for numerous genes in trophoblast tissue from the placenta. That was particularly true for a set of 15 ancient imprinted genes, 10 of which showed signs of paternal expression in the study. Imprinting status was somewhat more tenuous across a group of 78 candidate imprinted genes that the study's authors identified — variability that appears to set the stage for inter-individual differences in the uterine environment — though paternal expression still tended to predominate.

Investigators with the J. Craig Venter Institute and other centers in the US and Russia describe the "mini-metagenome" approach they used sequence the genome sequence of a representative from the uncultivated bacterial phylum dubbed TM6. From swab samples collected from a biofilm in the sink of a hospital's public restroom, the team narrowed in on individual bacterial cells using fluorescence activated cell sorting and other techniques. After amplifying and sequencing DNA in individual bacteria cells, investigators put together an assembly comprised of reads from cells with shared 16S ribosomal RNA sequences, covering around 90 percent of the genome for a TM6 bug called TM6SC1.

Underutilized Genetic Testing

Genetic testing is underused, even in families with a history of certain cancers, reports News@JAMA. A team of French researchers examined about 240,000 patient records from cancer centers in France. While the researchers found that BRCA1 and BRCA2 gene testing about tripled between 2003 and 2011, testing rates for other cancer-predisposing genes remained low. Testing for variants in the MMR gene, which may increase patients' risk of Lynch syndrome and, in turn, colorectal cancer, did increase by about 43 percent between 2003 and 2011, but Pascal Pujol from Montpellier University Hospital called the result "frankly disappointing," News@JAMA says.

"Given that [genetic] testing can provide many options to enable individuals to manage their cancer risk, it is vital to encourage awareness and acceptance among both the public and medical professionals," Pujol adds.

News@JAMA adds that the study looked solely at testing rates in France, but notes that Pujol says such trends are likely to be seen in other countries as well.

Setting Standards

A number of organizations across the world announced last week that they were working to form an alliance to develop standards so researchers would be able to share genomic and clinical data. "The idea is to focus not on the creation of individual data sets but to focus on the standards and shared principles and ethics that would make it possible for many people to build things that would be individually innovative and yet collectively could learn from each other," the Broad Institute's David Altshuler tells ScienceInsider in a Q&A.

Altshuler notes that it is "an ambitious proposal" and that working groups will be set up later this year to begin discussing technical standards, ethics, and more. He says they hope to come up with standards so researchers can share information, but also so that participants can determine how their data is used.

"We're going to try to come together and work together and develop a menu of options and technical standards to implement them so that people can make decisions," he says, adding that "[i]f it turns out there's a set of data that, because of permissions, can only be used for certain purposes, then that's exactly what should happen."

Slow Process

The European Court of Auditors says that the Framework Programme 7 grant-awarding process, the main way that the European Union funds scientists, is overly bureaucratic, ScienceInsider reports. The program is to end this year.

The main problem is that program rules require changes to how universities and research institutes tracked projects — according to the court's report, 59 percent of recipients had to put in a new recording system, modify their system, or have two parallel systems in place. Further, program rules were also inconsistently interpreted.

The report, ScienceInsider adds, could lead to changes to the EU's next funding scheme, Horizon 2020.

The European Commission has already made changes to the Framework Programme 7 rules so they are more similar to current practices, a commission spokesperson tells ScienceInsider, adding that "this will continue in Horizon 2020."

This Week in PLOS

Individuals with chronic periodontitis tend to have distinct microbial communities in deep pockets around their teeth compared to those at healthier sites closer to the surface, according to a PLOS One study by Virginia Commonwealth University researchers. The team used 16S ribosomal RNA gene sequencing to characterize paired shallow and deep oral microbiome samples from 88 individuals with chronic periodontal disease. Along with microbiome shifts between the shallow and deep dental pocket sites in each person — which varied with factors such as smoking status or race — the analysis pointed to possible differences between the collections of bugs contributing to cavities and those linked to periodontal disease.

A PLOS Genetics study looks at genetic variants influencing traits such as height, weight, body fat, or waist and hip measurements that differ between men and women. Members of the international Genetic Investigation of Anthropometric Traits, or GIANT, consortium drew on data for 133,723 individuals for a meta-analysis aimed at finding sexually dimorphic genetic contributors to these and other anthropometric traits. That analysis, followed by a validation study involving more than 137,000 other individuals, led to variants at seven loci showing significant ties to waist-related traits in women but not men.

In PLOS Neglected Tropical Diseases, French researchers take a look at genetic patterns found in Madagascar's black rats — an animal reservoir for the plague-causing pathogen Yersinia pestis. The team used microsatellite markers to gauge genetic structure and diversity in nearly 1,300 animals in four black rat populations sampled in mountainous or flat parts of the island, looking at how these profiles corresponded to the serotype of Y. pestis detected in the rats when the pathogen was present. Genetic structure was highest for rats living in mountainous regions of Madagascar, study authors note, though more research is needed to understand genetics in the plague reservoir animals relates to the pathogen's presence and spread.

Dirt Map

Microbes are everywhere, and researchers taking part in the Earth Microbiome Project aim to find out how microorganisms living in soil help support other life on Earth, Jonathon Keats at Wired reports. Janet Jansson from Lawrence Berkeley National Laboratory and her colleagues are collecting samples from a number of locations to tease out the DNA from such organisms.

"The plan is to build a global 'gene atlas,' then to work out how nutrients and waste products migrate through the ecosystem," Keats adds. "Eventually that understanding might allow us to engineer microbes to be ultraefficient producers of biofuel, or even take control of the carbon cycle."

Researchers are particularly interested in samples from the English Channel, farms in the Midwest US, and the Gulf of Mexico near the Deepwater Horizon oil spill. From those sites, they hope to better understand how "small things shape big ecosystems," Keats says.