Archive for the ‘Genetics’ Category

Formatting Gaia + Technological Symbiosis

Friday, December 2nd, 2011

Patrick Millard | Formatting Gaia + Technological Symbiosis from vasa on Vimeo.

Nature and nurture work together to shape the brain

Monday, November 21st, 2011

At the Neuroscience 2011 conference, scientists at The Rockefeller University, The Scripps Research Institute, and the University of Pennsylvania presented new research  demonstrating the impact that life experiences can have on genes and behavior. The studies examine how such environmental information can be transmitted from one generation to the next — a phenomenon known as epigenetics. This new knowledge could ultimately improve understanding of brain plasticity, the cognitive benefits of motherhood, and how a parent‘s exposure to drugs, alcohol, and stress can alter brain development and behavior in their offspring.

The new findings show that:

  • Brain cell activation changes a protein involved in turning genes on and off, suggesting the protein may play a role in brain plasticity.
  • Prenatal exposure to amphetamines and alcohol produces abnormal numbers of chromosomes in fetal mouse brains. The findings suggest these abnormal counts may contribute to the developmental defects seen in children exposed to drugs and alcohol in utero.
  • Cocaine-induced changes in the brain may be inheritable. Sons of male rats exposed to cocaine are resistant to the rewarding effects of the drug.
  • Motherhood protects female mice against some of the negative effects of stress.
  • Mice conceived through breeding — but not those conceived through reproductive technologies — show anxiety-like and depressive-like behaviors similar to their fathers. The findings call into question how these behaviors are transmitted across generations.

Source | Kurzweil AI

The Biological Canvas

Tuesday, July 19th, 2011

Curatorial Statement

The Biological Canvas parades a group of hand selected artists who articulate their concepts with body as the primary vessel.  Each artist uses body uniquely, experimenting with body as the medium: body as canvas, body as brush, and body as subject matter.  Despite the approach, it is clear that we are seeing new explorations with the body as canvas beginning to emerge as commonplace in the 21st century.

There are reasons for this refocusing of the lens or eye toward body.  Living today is an experience quite different from that of a century, generation, decade, or (with new versions emerging daily) even a year ago.  The body truly is changing, both biologically and technologically, at an abrupt rate.  Traditional understanding of what body, or even what human, can be defined as are beginning to come under speculation.  Transhuman, Posthuman, Cyborg, Robot, Singularity, Embodiment, Avatar, Brain Machine Interface, Nanotechnology …these are terms we run across in media today.  They are the face of the future – the dictators of how we will come to understand our environment, biosphere, and selves.  The artists in this exhibition are responding to this paradigm shift with interests in a newfound control over bodies, a moment of self-discovery or realization that the body has extended out from its biological beginnings, or perhaps that the traditional body has become obsolete.

We see in the work of Orlan and Stelarc that the body becomes the malleable canvas.  Here we see some of the earliest executions of art by way of designer evolution, where the artist can use new tools to redesign the body to make a statement of controlled evolution.  In these works the direct changes to the body open up to sculpting the body to be better suited for today’s world and move beyond an outmoded body.  Stelarc, with his Ear on Arm project specifically attacks shortcomings in the human body by presenting the augmented sense that his third ear brings.  Acting as a cybernetic ear, he can move beyond subjective hearing and share that aural experience to listeners around the world.  Commenting on the practicality of the traditional body living in a networked world, Stelarc begins to take into his own hands the design of networked senses.  Orlan uses her surgical art to conceptualize the practice Stelarc is using – saying that body has become a form that can be reconfigured, structured, and applied to suit the desires of the mind within that body.  Carnal Art, as Orland terms it, allows for the body to become a modifiable ready-made instead of a static object born out of the Earth.  Through the use of new technologies human beings are now able to reform selections of their body as they deem necessary and appropriate for their own ventures.

Not far from the surgical work of Orlan and Stelarc we come to Natasha Vita-More’s Electro 2011, Human Enhancement of Life Expansion, a project that acts as a guide for advancing the biological self into a more fit machine.  Integrating emerging technologies to build a more complete human, transhuman, and eventual posthuman body, Vita-More strives for a human-computer interface that will include neurophysiologic and cognitive enhancement that build on longevity and performance.  Included in the enhancement plan we see such technologies as atmospheric sensors, solar protective nanoskin, metabrain error correction, and replaceable genes.  Vita-More’s Primo Posthuman is the idealized application of what artists like Stelarc and Orlan are beginning to explore with their own reconstructive surgical enhancements.

The use of body in the artwork of Nandita Kumar’s Birth of Brain Fly and Suk Kyoung Choi + Mark Nazemi’s Corner Monster reflect on how embodiment and techno-saturation are having psychological effects on the human mind.  In each of their works we travel into the imagined world of the mind, where the notice of self, identity, and sense of place begin to struggle to hold on to fixed points of order.  Kumar talks about her neuroscape continually morphing as it is placed in new conditions and environments that are ever changing.  Beginning with an awareness of ones own constant programming that leads to a new understanding of self through love, the film goes on a journey through the depths of self, ego, and physical limitations.  Kumar’s animations provide an eerie journey through the mind as viewed from the vantage of an artist’s creative eye, all the while postulating an internal neuroscape evolving in accordance with an external electroscape. Corner Monster examines the relationship between self and others in an embodied world.  The installation includes an array of visual stimulation in a dark environment.  As viewers engage with the world before them they are hooked up simultaneously (two at a time) to biofeedback sensors, which measure an array of biodata to be used in the interactive production of the environment before their eyes.  This project surveys the psychological self as it is engrossed by surrounding media, leading to both occasional systems of organized feedback as well as scattered responses that are convolutions of an over stimulated mind.

Marco Donnarumma also integrates a biofeedback system in his work to allow participants to shape musical compositions with their limbs.  By moving a particular body part sounds will be triggered and volume increased depending on the pace of that movement.  Here we see the body acting as brush; literally painting the soundscape through its own creative motion.  As the performer experiments with each portion of their body there is a slow realization that the sounds have become analogous for the neuro and biological yearning of the body, each one seeking a particular upgrade that targets a specific need for that segment of the body.  For instance, a move of the left arm constantly provides a rich vibrato, reminding me of the sound of Vita-More’s solar protective nanoskin.

Our final three artists all use body in their artwork as components of the fabricated results, acting like paint in a traditional artistic sense.  Marie-Pier Malouin weaves strands of hair together to reference genetic predisposal that all living things come out of this world with.  Here, Malouin uses the media to reference suicidal tendencies – looking once again toward the fragility of the human mind, body and spirit as it exists in a traditional biological state.  The hair, a dead mass of growth, which we groom, straighten, smooth, and arrange, resembles the same obsession with which we analyze, evaluate, dissect and anatomize the nature of suicide.  Stan Strembicki also engages with the fragility of the human body in his Body, Soul and Science. In his photographic imagery Strembicki turns a keen eye on the medical industry and its developments over time.  As with all technology, Strembicki concludes the medical industry is one we can see as temporally corrective, gaining dramatic strides as new nascent developments emerge.  Perhaps we can take Tracy Longley-Cook’s skinscapes, which she compares to earth changing landforms of geology, ecology and climatology as an analogy for our changing understanding of skin, body and self.  Can we begin to mold and sculpt the body much like we have done with the land we inhabit?

There is a tie between the conceptual and material strands of these last few works that we cannot overlook: memento mori.  The shortcomings and frailties of our natural bodies – those components that artists like Vita-More, Stelarc, and Orlan are beginning to interpret as being resolved through the mastery of human enhancement and advancement.  In a world churning new technologies and creative ideas it is hard to look toward the future and dismiss the possibilities.  Perhaps the worries of fragility and biological shortcomings will be both posed and answered by the scientific and artistic community, something that is panning out to be very likely, if not certain.  As you browse the work of The Biological Canvas I would like to invite your own imagination to engage.  Look at you life, your culture, your world and draw parallels with the artwork – open your own imaginations to what our future may bring, or, perhaps more properly stated, what we will bring to our future.

Patrick Millard

Source | VASA Project

Genome power is about to sweep world: Nobel laureate

Monday, June 13th, 2011

NOBEL laureate Barry Marshall plans to become the first Australian to post his own full genetic code, or genome, on the internet, even though it does reveal unsettling insights.

His nearly-completed six-billion-piece code shows he is at nearly three times higher lifetime risk of macular degeneration and double for testicular cancer and for Alzheimer’s disease.

”If I develop Alzheimer’s disease, that’s bad luck, but it’s not going to worry me,” says Professor Marshall.

The power of the genome to reveal each individual’s biological strengths and weaknesses will guide diagnosis and identify effective drugs for individual patients in a revolution about to sweep world medicine, he says.

”It is not going to be long before every Australian will be carrying their genome on a smart card.

”This is going to be an enormous and unprecedented help to their health,” says the doctor, who swallowed a laboratory culture to prove that bacteria caused stomach ulcers.

It was an idea that confounded the medical orthodoxy but ultimately won him and Dr Robin Warren the Nobel prize.

At the National Press Club yesterday, Professor Marshall predicted that in a decade we would have our genome on our smart phones and be able to routinely gain access to those of prospective boyfriends or girlfriends.

People would get used to the swings and roundabouts of knowing their genetic make-up as the benefits to their health became clear and treatment got better-targeted.

He told of his wife’s concern about her own mother’s macular degeneration, which were allayed when a genome scan found she did not have her mother’s gene for the blinding condition.

Treatments of conditions like high cholesterol would continue to improve as doctors took advantage of routinely upgraded refinements of genetic influences.

”Australians currently seem too paranoid to truly embrace genomics. Yet there will soon be thousands of human genomes publicly available,” he says, pointing to the publishing of their genomes by gene map pioneer Dr Craig Venter and South African Bishop Desmond Tutu. His comments come as Australian health authorities grapple with how to authorise new drugs dependent on pre-genetic testing. He believes that the growing demand for personal genomes – already available in preliminary form for as little as $200 – will require a huge increase in experts to interpret the lengthy sequences of letters comprising the human DNA.

Professor Marshall says Australia, like the US, should legislate against discriminatory practices like higher life insurance premiums on the basis of genetic tests.

Ronald Trent, professor of medical molecular genetics at Sydney University, says that any data individuals publish that might be interpreted as having an adverse health risk could potentially be used by life insurance companies, but not health funds, to determine policies.

But Professor Trent said Australia and the US systems were not comparable given Australian measures like the Disability Discrimination Act, which prohibits employment discrimination on genetic grounds, and the availability of universal health insurance.

Face it: Professor Barry Marshall says the genome will soon be part and parcel of everyday life.

Source | The Age

Humanity+ @ Parsons The New School For Design, Transhumanism Meets Design

Tuesday, April 26th, 2011

Patrick Millard | Formatting Gaia + Embodiment

Tuesday, April 12th, 2011

Nanodisk gene therapy

Friday, January 14th, 2011

A team of scientists at the Universitat Autonoma de Barcelona (UAB) has demonstrated that the peptide R9, formed by a specific type of amino acid (arginine), can encapsulate genetic material, assemble itself with other identical molecules to form nanoparticles, and enter directly into the cell nucleus to release the material it contains. The nanoparticles have the shape of a disk, with a diameter of 20 nm. and a height of 3 nm.

One of the challenges of gene therapy — a set of methodologies aimed at treating several nucleic acid diseases (DNA or RNA) — is to assure that this material arrives directly to the nucleus of the cell without losing a substantial amount along the way and without producing any undesired side effects. With this aim, scientists experiment with the use of different types of vectors, molecules capable of transporting genetic material to the correct place. Presently, natural “deactivated” viruses are the most commonly used vectors in clinical trials, their side effects however often limit therapeutic application.

One of the most promising alternatives in this field is the use of artificial viruses. These viruses can be constructed through genetic engineering by assembling minute protein structures made up of peptides, the building blocks of proteins.

The study was published recently in the journals Biomaterials and Nanomedicine and describes how scientists studied the performance of R9 nanodisks in the interior of the cells using confocal microscopy techniques provided by the UAB. The images show that once the cell membrane is passed, particles travel directly to the nucleus at a rate of 0.0044 micrometers per second, ten times faster than if they dispersed passively in the interior. Nanoparticles accumulate in the interior of the nucleus and not in the cytoplasm and therefore increase their level of effectiveness.

The discovery represents a new category of nanoparticles offering therapeutic benefits. According to Dr Esther Vázquez, director of the project, “nanodisks assemble automatically, move rapidly, remain stable and travel to the interior of the nucleus. This makes them a promising tool as a prototype for the safe administration of nucleic acids and functional proteins.”

Source | Universitat Autonoma de Barcelona

A Test for 400 Inherited Diseases

Friday, January 14th, 2011

Spotting disease: The white column in the middle of this DNA sequence chart highlights a four-letter deletion in the genome that is linked to a disorder called Lesch-Nyan syndrome. The disorder, which strikes in infancy, causes severe mental and physical problems.

Researchers have developed a new test designed to simultaneously detect genetic mutations involved in more than 400 severe diseases. The test, which was shown to be highly accurate, is initially aimed at screening prospective parents for mutations linked to rare inherited disorders.

Thanks to inexpensive sequencing technology, scientists aim to offer the test for just a few hundred dollars, similar to the cost of tests currently available for detecting individual diseases or a handful of disorders.

“We want this test to become available in the same way Tay-Sachs and cystic-fibrosis testing has,” says Stephen Kingsmore, chief scientific officer of the National Center for Genome Resources and senior author on the study. Tay-Sachs, a rare inherited disorder, strikes in infancy and is typically fatal within the first few years of life. “Forty years of experience with Tay-Sachs resulted in that awful disorder becoming pretty much eradicated in North America,” he says. “This is just on a grander scale.”

The new test, which reads the sequence of about 2 million letters of DNA spread out over 7,000 different chunks, is designed to detect mutations in genes that have been linked to so-called recessive Mendelian disorders, including cystic fibrosis and Tay-Sachs. People who inherit two mutant copies of the relevant gene are guaranteed to develop the disease, while people with only one copy will not. These diseases often strike early in life with severe consequences, including severe disability and death. And while they are individually rare, together they account for about 20 percent of infant mortality.

Testing prospective parents for these mutations can help them prevent or plan for the diseases. Couples who are both carriers of mutations in a particular disease-linked gene could choose to adopt, to conduct genetic tests on in-vitro-fertilized embryos, or to do prenatal testing and terminate affected pregnancies.

While more than 1,000 genes have been linked to recessive Mendelian disorders, the tests now available to prospective parents screen for only the most common, such as cystic fibrosis, and are mainly offered to parents in high-risk groups. Ashkenazi Jews are at particular risk of carrying Tay-Sachs mutations, for example.

“To be able to screen for more than 400 rare conditions is really an important advance,” says Eric Topol, director of the Scripps Translational Science Institute, who was not involved in the study. “We don’t have anything near that today.”

The major impediment to broad genetic screening has been cost, for the kind of DNA sequencing used in most clinical diagnostic tests is very expensive. Kingsmore and collaborators took advantage of the latest sequencing technology, which can sequence much greater volumes of DNA more quickly and cheaply. This technology has already transformed genetic research, but it has been slow to make its way into medical use.

“A huge question is whether it is robust enough to be used in clinical testing in humans,” says Kingsmore. According to his findings, published Wednesday in Science Translational Medicine, the answer is yes. When compared with another technology—microarrays designed to detect specific genetic mutations—the sequencing-based approach was 99.98 percent accurate. And follow-up testing of DNA from 100 people with a known mutation was 100 percent accurate. (Kingsmore’s team actually found that a number of the original samples had been misclassified.)

The advantage of a sequencing-based test over one that uses microarrays is that the latter can detect only known mutations. Sequencing, on the other hand, can spot any variation in disease-linked genes, even if it has never been seen before. (For some diseases, a few common mutations account for most cases of the disease, but for others, many different types of mutations can disrupt the relevant gene.) A comprehensive screening test launched last year by a startup called Counsyl tests only for known mutations. That’s a problem, says Kingsmore, because “we don’t have a good catalogue of mutations for most diseases.”

To develop the new test, the team modified existing technology to select relevant portions of the genome by binding stretches of complementary DNA to the regions of interest, drawing them out of a soup of DNA. Next they used sequencing technology from Illumina to analyze the extracted DNA. Since submitting their paper, the researchers have expanded the test to scan for mutations linked to more than 600 different conditions.

Kingsmore says the test currently costs $618 to run, not including any costs associated with commercialization. He predicts the cost will drop in next the next two years. His institute, a nonprofit that developed the technology with funding from a patient-advocacy group, aims to offer it for $500, on par with current carrier screens.

“Rapid progress in sequencing makes it possible to gather the enormous amount of sequencing information at a manageable cost,” says Arthur Beaudet, chair of the department of Molecular and Human Genetics at Baylor College of Medicine, who was not involved in the study. “And it will quite likely get cheaper over time.”

The test isn’t yet available to prospective parents. Researchers are now beginning to test the technology in clinical labs, a necessary step toward getting it approved by the Food and Drug Administration. “We believe we will be able to offer it on a research basis in the summer of 2011,” says Kingsmore.

Source | Technology Review

Technology 25 Years Hence

Thursday, December 30th, 2010

“The law of accelerating returns is the only reliable method I know that allows us to forecast at least certain aspects of the future,” said Ray Kurzweil in “Why Do We Need Predictions?,” a New York Times special feature published Monday.

“A computer that fit inside a building when I was a student now fits in my pocket, and is a thousand times more powerful despite being a million times less expensive. In another quarter century, that capability will fit inside a red blood cell and will again be a billion times more powerful per dollar.”

Source | Kurzweil AI

U.S. Bioethics Commission Gives Green Light to Synthetic Biology

Saturday, December 18th, 2010

The president’s bioethics commission says there is no need to temporarily halt research or to impose new regulations on the controversial new field known as synthetic biology.

In a report being issued Thursday, the Presidential Commission for the Study of Bioethical Issues says that at present the technology — which involves creating novel organisms through the synthesis and manipulation of DNA — poses few risks because it is still in its infancy.

Instead, the report recommends self-regulation by synthetic biologists. It also says the president’s office should better coordinate government agencies that oversee different aspects of the field.

“The commission thinks it imprudent either to declare a moratorium on synthetic biology until all risks can be determined and mitigated, or to simply ‘let science rip,’ regardless of the likely risks,” the report says. “The Commission instead proposes a middle ground — an ongoing system of prudent vigilance that carefully monitors, identifies and mitigates potential and realized harms over time.”

Synthetic biology uses genetic engineering and other techniques to create novel organisms tailored for particular tasks. The idea is that by synthesizing DNA and by combining standard genetic building blocks, engineers can efficiently design a biological machine much as they might design a bridge or computer chip.

Synthetic biology is already being used to engineer micro-organisms to manufacture a malaria drug and produce biofuels, so it might form the basis of a huge new bio-economy that could partly supplant petroleum-based industry.

But the promise is accompanied by the risks of “bio-terror” and “bio-error” — that the same techniques, either nefariously or inadvertently, might create organisms that would harm public health or the environment.

President Obama asked the commission, which he created about a year ago, to examine synthetic biology as its first order of business in May, right after the scientist J. Craig Venter announced that he and his colleagues had created what might be called the first “synthetic organism.” Dr. Venter’s team had manufactured the complete genome of a bacterium from chemicals and transplanted it into another closely related type of bacterium, where it took over control of the organism.

While the feat raised concerns that man was now playing God, the commission’s report says that Dr. Venter’s team did not create life, since it had duplicated a known genome and transplanted into an already living cell. Nor, the report says, are truly novel creatures on the immediate horizon.

“Here’s something significant in science, but there’s no cause for fear and dread about what is going to happen immediately next,” Amy Gutmann, the chairwoman of the commission, said in an interview Wednesday.

Dr. Gutmann, who is president of the University of Pennsylvania, said the 13 scientists, ethicists and public policy experts who make up the commission had unanimously endorsed the report’s 18 recommendations. Among those recommendations was that training in ethics be required for researchers in the field.

Some critics of synthetic biology lambasted the recommendations. “This is a disappointingly empty and timid little report,” Jim Thomas of the ETC Group, a Canadian environmental organization, said in a statement. Mr. Thomas testified at the first of three public meeting the bioethics commission had on synthetic biology.

More than 50 environmental groups from around the world signed an open letter to federal officials calling for a moratorium on the release and commercial use of synthetic organisms until the risks are understood and regulations developed.

“The commission’s lack of attention to the ecological harms posed by synthetic biology is irresponsible and dangerous,” the letter said, adding that “self- regulation amounts to no regulation.”

Brent Erickson, executive vice president of the Biotechnology Industry Organization, which represents companies that use the technology, called the report “reasonable, well balanced and insightful.” He said the commission had recognized that synthetic biology “is not something radically new and threatening, but is part of an ongoing continuum of biotech innovation that has resulted in safe and successful products and public benefits for the past 15 or 20 years.”

Drew Endy, a Stanford engineer who is considered one of the most influential researchers in synthetic biology, said he welcomed leadership from the executive branch of the government, which he said was needed for the field to thrive. He also praised a recommendation in the report asking the government to evaluate whether patents might be hindering progress.

Dr. Venter, whose work precipitated the commission’s study, also praised the recommendations as “wise, warranted and restrained, which will help to ensure that this young field of research will flourish in a positive manner.”

Source | New York Times

Democratizing DNA Sequencing

Wednesday, December 8th, 2010

Reading DNA: Ion Torrent’s chip, built using semiconductor technology, can read DNA sequence directly, without the optical systems used by other sequencing machines. Credit: Ion Torrent

A device that reads the sequence of DNA using semiconductor technology could bring the power of sequencing to a much broader swath of the science world. The desktop machine, developed by a startup called Ion Torrent, is slated to go on sale this month and will cost $50,000, about one-tenth of the cost of other sequencing machines on the market.

“It takes the democratization of sequencing to the next level,” says Chad Nusbaum, codirector of the genome sequencing and analysis program at the Broad Institute of MIT and Harvard, who has been testing the device. “Virtually anyone with good grant funding can buy one.”

Nusbaum and others say the biggest advantage of the new technology is its speed; it can sequence a sample of DNA in a couple of hours, rather than the week or more required by most of the machines now on the market. That could make the technology particularly useful for genetic diagnostics, which require a quick turnaround.

Life Technologies, a major player in the genomics industry, bought Ion Torrent for $375 million in cash and stock last August. Ion Torrent’s founder, Jonathan Rothberg, says that Life Technologies was particularly interested in his technology because of the potential diagnostic applications, though he is careful to note that the machine is only meant for research use at the moment.

The new device reads a much smaller amount of DNA than larger, more expensive machines. The current version analyzes 10 to 20 million bases per run, while the human genome is 3 billion bases. (Machines made by genomics giant Illumina, in contrast, can sequence about 250 billion bases of DNA in a weeklong run.) However, diagnostic and other applications only require analysis of limited stretches of DNA.

At the heart of Ion Torrent’s technology is a semiconductor chip manufactured in the same foundries as computer and cell-phone microprocessors. The chip holds an array of 1.5 million sensors, each topped with a small well designed to hold a single-stranded fragment of DNA. To sequence a strand of DNA, the machine synthesizes a complementary strand, sequentially attempting to add each of the four bases that make up DNA one by one to the well. When the correct base is incorporated into the growing sequence, it triggers a chemical reaction that releases a positively charged hydrogen atom, which is detected by the sensor. A computer stitches together the sequence by integrating these signals with knowledge of when each base was flowed through the chip.

The device is so much cheaper than other machines because of its simplicity; the chip itself detects the sequence, and it does so electronically. Other devices use optical systems, which require lasers, cameras, and microscopes. (These devices also read DNA sequence by synthesizing a complementary strand—but chemicals used in the reaction have to be modified to fluoresce when added to the growing piece of DNA; a camera detects the flashes of light.) “It’s a simple system to implement,” says Nusbaum of Ion Torrent’s technology. “Not just the machine, but also the infrastructure around it.”

While Ion Torrent’s machines are cheap, the cost of sequencing per base pair is higher than for other instruments because each chip can only be used once, and the disposable chip currently costs about $250. But Rothberg says that, as with standard microprocessors, the price will drop with larger volumes of chips. “Every time we make 10 times as many chips in these factories, the cost drops in half,” he says. And because they are manufactured using standard semiconductor fabrication methods, he says it will be easy to scale up the chips to contain 10 to 100 times as many sensors.

Rothberg likens the evolution of sequencing technology to that of the computer industry. “The original computers were expensive; [they were] hard to build, ship, and set up; and they required a special environment to operate.” DNA sequencing was similarly once limited to the realm of large sequencing centers, but new technologies on the market over the last five years have greatly expanded its purview. These machines brought down the cost of sequencing dramatically, largely by reading millions of DNA sequencing reactions in parallel.

Within this scheme, Rothberg equates Ion Torrent’s machines to personal computers. Thousands of labs across the globe will now have access to sequencing machines that can fit on a standard lab bench, but as Harvard geneticist George Church points out, the machines are still out of reach for the average consumer. Furthermore, while many labs will have the capacity to buy a $50,000 sequencer, it’s not yet clear that they will. “Lots of labs are outsourcing these days,” says Church. “But I do think a lot of people want their own device. They don’t want to be in queue. If they have a sample, they want an answer immediately.”

It’s also difficult to predict how Ion Torrent will compete with other high-profile companies with new sequencing technologies on the market, most notably Pacific Biosciences. That company raised $200 million through an initial public offering in October of this year.

John Iafrate and Long Le, pathologists at Massachusetts General Hospital, plan to put the diagnostic potential of Ion Torrent’s technology to the test. Their proposal to use the machine to analyze cancer-linked genes in tumor cells won the pair a free sequencer in a competition sponsored by the company last June. MGH currently screens so-called hotspots—regions of the genome known to harbor many cancer-linked mutations—in some incoming cancer patients. “This would allow us to move from the hotspot approach to cast a wider net; there are probably about 200 genes we are interested in,” says Iafrate. “We want to understand every patient’s cancer comprehensively enough [for them] to be given drugs or directed into the appropriate clinical trials.”

He adds that both the speed and the cost of the machine will make it attractive to clinical genetics labs. “In a clinical setting, it’s very important to turn around tests quickly,” he says. “Outside of genome centers, it’s hard to get capital funding for [sequencing instruments], so reducing the cost to $50,000 makes it very attractive. All of those factors make entry into the clinical arena a tractable problem.”

Source | Technology Review

Scientists attach barcodes to mouse embryos — human ones coming soon

Tuesday, December 7th, 2010

Bar-coded embryos (UAB)

Scientists from Spain’s Universitat Autònoma de Barcelona (UAB), along with colleagues from the Spanish National Research Council, have successfully developed an identification system in which mouse embryos and oocytes (egg cells) are physically tagged with microscopic silicon bar code labels. They expect to try it out on human embryos and oocytes soon.

The purpose of the system is to streamline in vitro fertilization and embryo transfer procedures. If egg cells and embryos can be quickly and easily identified, then things should run much smoother, and success rates should be higher.

The research, published online in Human Reproduction, represents a first step towards designing a direct labeling system of oocytes and embryos. The objective was to develop a system that minimizes risks when identifying female gametes and embryos during in vitro fertilization and embryo transfer procedures, to reduce the phases of the clinical process requiring control and supervision by two embryologists.

Microscopic silicon codes, fabricated using microelectronic techniques, were employed in the research. In previous tests, researchers verified the innocuousness of silicon particles in human cells, particularly in macrophages. In the present study, the codes were microinjected into the perivitelline space of mouse embryos, located between the cell membrane and the zona pellucida, a cover that surrounds the plasma membrane of the embryo. Since the embryo exits the zona pellucida before its implantation in the uterus, this approximation should allow the embryo to free itself of the identification codes when leaving the zona pellucida.

This research shows that labeled embryos develop normally in culture up to the blastocyst stage, the phase of development which precedes implantation. Researchers also studied the retention of the codes throughout the culture process, the easiness in reading the codes in a standard microscope, and their elimination when embryos free themselves from the zona pellucida. The research also verified the efficacy of the system when freezing and thawing the embryos.

To make the system more viable, researchers are now working on improving the embryo’s process of freeing itself from the identification code. This is the only stage of the research that presented limitations. They are currently studying whether the modification of the codes’ surface could allow their direct attachment to the outer side of the zona pellucida, avoiding their microinjection into the perivitelline space. Theyalsoaim to develop an automatic code reading system.

Researchers recently received authorization from the Department of Health of the Government of Catalonia to begin testing the system with human oocytes and embryos from several fertility clinics in Spain.

Source | Universitat Autonoma de Barcelona

Top 5 Human Enhancement Must Haves

Tuesday, December 7th, 2010

The World Health Organization estimates that 25 million people worldwide are affected by over 1,000 genetic conditions.  There are approximately 24.6 million people alive today that have been diagnosed with cancer within the last five years. In the United States alone, 101,000 people are currently waiting for an organ transplant, and the number grows 300 people each month, according the Mayo Clinic.

Human intelligence has not advanced at the speed of accelerating technologies.  What can we do to advance our own human physiology?  The following is a list of possible transhuman must haves for the 21st century:

1.  Brain Enhancement: Metabrain prosthetic, which includes
an observational feedback field
•  AGI decision assistant
•  cognitive error correction task pane with auto-correct options
•  multiple viewpoints window with drop down elements

2. Body Enhancement:
Whole-Body prosthetics, which includes:
•  In vivo fiber optic spine
•  Atmospheric physical stimuli sensors
•  Solar protective nanoskin
•  Regenerative organs
•  Exoskeleton mobility device
•  Replaceable genes

3. Behavior Enhancement: Psychology prosthetic, which includes:
•  Awareness Customization
•  Connectivity macros
•  Empathic ping layers
•  Finessed emotions helper
•  Persona multiplier and recorder
•  Seamless relay between platforms, avatars and syn-bios

4.  Style Enhancement:  Aesthetics prosthetic, which includes:
•  Wearable or in-system options
•  Transhuman haute couture clipboard
•  Radical style click and drag option
•  Day-to-night shape shifting
•  Customized tone, texture and hue change

5.  System Care:  Warranty prosthetic, which includes:
•  Additional 24 chromosomal pairing
•  Guarantee for genetic or code mutations or defects
•  Upgradable immune system and anti-virus system

Natasha Vita-More is a media artist/designer, Founder and Director of Transhumanist Arts & Culture, and Artistic Director of H+ Laboratory.

Source | H+ Magazine

Genetic circuits rewire human cells to sense disease and treat it

Wednesday, December 1st, 2010

Synthetic genetic switches could cause diseased cells to kill themselves, or become susceptible to drugs (Kristine Chang and Stephanie Culler)

Stanford researchers led by Christina Smolke have developed engineered DNA-based “devices” that can sense disease states in cultured human cells and fine-tune their own functions in response to a cell’s internal signals, such as kill themselves or become susceptible to drugs.

These autonomous biological tools are called “sensor-actuator” devices because they sense what’s happening in a cell and act upon what they detect.

The researchers built these devices by combining different pieces of DNA into one long stretch. The DNA is then put into cells that convert it to RNA, a slightly different version of genetic material that is frequently made by cells. The RNA molecule can then be read like a recipe by the cell’s protein-making molecular machinery.

The sensor-actuator devices are built with efficient redesign in mind. Each piece of the device, whether the sensor or the protein-recipe actuator, can be swapped out for another version. This way, researchers can conveniently build a device to fit their particular needs.

The sensor part of the RNA molecule can detect proteins that communicate information gathered inside and outside of the cell into the nucleus, which acts like the cell’s control center. Smolke and her team used the molecular devices to sense disease-like states, such as inflammation and cancer, in cultured human cells.

RNA control device translates protein inputs to targeted gene-expression outputs (Science/AAAS)

The RNA sensor-actuator devices can “listen in” on the messages communicated by the cell and act accordingly. Depending on whether or not the device binds to the input protein, the RNA molecule could keep its original structure, or cut out a piece of itself and thus change the genetic information it contains.

When the RNA is read by the cell’s protein-making machinery, the final product will depend on the RNA’s information content.

The process by which the RNA device can remove part of itself is called “alternative splicing.” Alternative splicing is an everyday process for many cells and is a powerful way to generate a diverse array of proteins inside a cell.

In the sensor-actuator devices described in the study, the optional piece of the RNA that could be cut out contained a “stop” message that instructed cells to stop making a protein before it was complete. When this “stop”-containing piece was removed, the device produced instructions for a whole and functional protein, one that, for instance, could glow green. In this way, the device could alter its output based upon the state of the cell.

“This is the first time a sensor-actuation device has been developed to respond to protein inputs and control an alternative splicing event linked to gene expression,” said Smolke.

“With the application of this device, you encode a certain level of intelligence that allows it to go into the cell and first assess whether the cell is diseased or not based upon disease markers. If yes, then it can then specifically activate therapeutic effects in that cell.”

One such therapeutic effect is the ability to specifically kill diseased cells. The researchers engineered an actuator module with an output that converted an inactive drug into an active form that causes cells to die. The sensor-actuator device only made the drug-activating output protein when the cell was diseased. Otherwise, the “stop” signal was left in the device and acted like a safety trigger preventing the death of healthy cells.

But the power of alternative splicing is not limited to just functional and non-functional outputs. “Instead of just yes/no, alternative splicing could modulate function,” said Smolke. Proteins could be modified to have slightly different functions in response to different cell states. “There’s a lot of richness in alternative splicing that could be used to develop more complex genetic circuits, beyond the demonstrated examples, that we might begin to implement in human cells,” she said.

The study was funded by the Caltech Joseph Jacobs Institute for Molecular Engineering for Medicine, the National Institutes of Health, the U.S. Department of Defense, the Alfred P. Sloan Foundation and the Bill and Melinda Gates Foundation.

Source | Stanford University

Researchers Engineer Miniature Human Livers in the Lab

Sunday, November 14th, 2010

Researchers at the Institute for Regenerative Medicine at Wake Forest University Baptist Medical Center are the first to use human liver cells to successfully engineer miniature livers that function – at least in a laboratory setting — like human livers. The next step is to see if the livers will continue to function after transplantation in an animal model.

The ultimate goal of the research, presented at the annual meeting of the American Association for the Study of Liver Diseases in Boston and published in an upcoming issue of the journal Hepatology, is to provide a solution to the shortage of donor livers available for patients who need transplants. Laboratory-engineered livers could also be used to test the safety of new drugs.

“We are excited about the possibilities this research represents, but must stress that we’re at an early stage and many technical hurdles must be overcome before it could benefit patients,” said Shay Soker, Ph.D., professor of regenerative medicine and project director. “Not only must we learn how to grow billions of liver cells at one time in order to engineer livers large enough for patients, but we must determine whether these organs are safe to use in patients.”

Pedro Baptista, PharmD, Ph.D., lead author on the study, said the project is the first time that human liver cells have been used to engineer livers in the lab. “Our hope is that once these organs are transplanted, they will maintain and gain function as they continue to develop,” he said.

The engineered livers, which are about an inch in diameter and weigh about .20 ounces, would have to weigh about one pound to meet the minimum needs of the human body, said the scientists. Even at this larger size, the organs wouldn’t be as large as human livers, but would likely provide enough function. Research has shown that human livers functioning at 30 percent of capacity are able to sustain the human body.

To engineer the organs, the scientists used animal livers that were treated with a mild detergent to remove all cells (a process called decellularization), leaving only the collagen “skeleton” or support structure. They then replaced the original cells with two types of human cells: immature liver cells known as progenitors, and endothelial cells that line blood vessels.

The cells were introduced into the liver skeleton through a large vessel that feeds a system of smaller vessels in the liver. This network of vessels remains intact after the decellularization process. The liver was next placed in a bioreactor, special equipment that provides a constant flow of nutrients and oxygen throughout the organ.

After a week in the bioreactor system, the scientists documented the progressive formation of human liver tissue, as well as liver-associated function. They observed widespread cell growth inside the bioengineered organ.

The ability to engineer a liver with animal cells had been demonstrated previously. However, the possibility of generating a functional human liver was still in question.

The researchers said the current study suggests a new approach to whole-organ bioengineering that might prove to be critical not only for treating liver disease, but for growing organs such as the kidney and pancreas. Scientists at the Wake Forest Institute for Regenerative Medicine are working on these projects, as well as many other tissues and organs, and also working to develop cell therapies to restore organ function.

Bioengineered livers could also be useful for evaluating the safety of new drugs. “This would more closely mimic drug metabolism in the human liver, something that can be difficult to reproduce in animal models,” said Baptista.

Source | Wake Forest University Baptist Medical Center