Happy DNA Day!

dna_cancerThough I am a week late in expressing this sentiment, I feel I must acknowledge this rather interesting of events. As it stands, this past April 22nd was the sixty-first anniversary of the molecular structure of DNA being revealed to the world. What began as a publication in the magazine Nature has now become emblematic of the programming language of life, and our understanding of DNA has grown by leaps and bounds over the past six decades.

To commemorate such an important landmark in the history of humanity, a look back at some of the more recent developments in the field of genetic research would seem to be in order. For example, it was on April 22nd of this year that a rather interesting study was published in the Proceedings of the National Academy of Sciences. The lead on this study was none other than Svante Pääbo – the world’s foremost expert in Neanderthal genetics.

humanEvolutionBased on the genomes of three neanderthals that were found in disparate locations in Eurasia, Pääbo and his colleagues have concluded that the genetic diversity in Neanderthals is significantly less when compared to present-day Homo sapiens. It also appears as if the Neanderthal populations were relatively isolated and tiny, so gene flow was extremely limited for these groups. In short, our homonid cousins didn’t get around and interbreed quite as much as we’ve done, which may shed some light on their disappearance.

On the very same day, an article was published in the Proceedings of the Royal Society B that proposed that skin cancer from the sun’s damaging UV rays was actually a driving force in the national selection for dark skin in early humans. In the article, Mel Greaves delivers a compelling argument that the deadliness of skin cancer in young albino children in Africa and Central America demonstrates just how vital it was for early humans to develop dark skin.

GenoChipAnd on April 25th, National Geographic and Family Tree DNA teamed up to announce the release of a brand new version of the human Y-DNA tree. This new tree of Y chromosome mutations has over 1,200 branches — almost double the number of branches that the Genographic Project was displaying before. With this much refinement, it’s now even easier to track the historical migrations of your distant ancestors.

To celebrate this monumental roll-out, Family Tree DNA offered a 20% discount on the 37-marker Y-DNA test and all individual Y-DNA SNP (single-nucleotide polymorphism) tests, an offer which sadly expired on April 27th. However, interested parties can still have this cutting-edge anthropological genetic test performed for $200. And it’s something to keep in mind for next year certainly. What better way to celebrate DNA day than to have a full genetic profile of yourself made?

encodeAnd let’s not forget, 2012 was also the year that the Encyclopedia of DNA Elements (ENCODE) Consortium – an international collaboration of research groups funded by the National Human Genome Research Institute (NHGRI) – released the world’s most complete report on the human genome to date. Unlike the Human Genome Project, which released the first catalog of human DNA back in 2003, ENCODE was not only able to catalog the human genome’s various parts, but also what those components actually do.

Among the initiative’s many findings was that so-called “junk DNA” – outlier DNA sequences that do not encode for protein sequences – are not junk at all, and are in fact responsible for such things as gene regulation, disease onset, and even human height. As I’ve said before, these findings will go a long way towards developing gene therapy, biotechnology that seeks to create artificial DNA and self-assembling structures, and even cloning.

Tree-600x405Yes, it’s an exciting time for the field of DNA research, and not just because of the many doors its likely to open. Beyond medical and bioresearch, it helps us to understand of ourselves as a species, our collective origins, and may perhaps help us to see just how interconnected we all truly are. For centuries now, a great many evils and prejudices have been committed in the name of “racial superiority” or racial differences.

Armed with this new knowledge, we might just come to realize that this great organism known as humanity is all fruit of the same tree.

Sources: extremetech.com, genome.ucsc.edu, newswatch.nationalgeographic.com

The Future of Medicine: Replacement Ears and “Mini Hearts”

biomedicineBiomedicine is doing some amazing things these days, so much so that I can hardly keep up with the rate of developments. Just last month, two amazing ones were made, offering new solutions for replacing human tissue and treating chronic conditions. The first has to do with a new method of growing human using a patients own DNA, while the second involves using a patient’s own heart tissue to create “mini hearts” to aid in circulation.

The first comes from London’s Great Ormond Street Hospital, where researchers are working on a process that will grow human ears using genetic material taken from a patient’s own fat tissue. Building upon recent strides made in the field of bioprinting, this process will revolution reconstructive surgery as we know it. It also seeks to bring change to an area of medicine which, despite being essential for accident victims, has been sadly lacking in development.

replacement_earCurrently, the procedure to repair damaged or non-existent cartilage in the ear involves an operation that is usually carried out when the patient is a child. For the sake of this procedure, cartilage is extracted from the patient’s ribs and painstakingly crafted into the form of an ear before being grafted back onto the individual. Whilst this method of reconstruction achieves good results, it also comes with its share of unpleasant side effects.

Basically, the patient is left with a permanent defect around the area from where the cells were harvested, as the cartilage between the ribs does not regenerate. In this new technique, the cartilage cells are engineered from mesenchymal stem cells, extracted from the child’s abdominal adipose (fat) tissue. The benefit of this new system is that unlike the cartilage in the ribs, the adipose tissue regenerates, therefore leaving no long-term defect to the host.

stem_cells1There is also the potential to begin reconstructive treatment with stem cells derived from adipose tissue earlier than previously possible, as it takes time for the ribs to grow enough cartilage to undergo the procedure. As Dr. Patrizia Ferretti, a researcher working on the project, said in a recent interview:

One of the main benefits in using the patient’s own stem cells is that there is no need for immune suppression which would not be desirable for a sick child, and would reduce the number of severe procedures a child needs to undergo.

To create the form of the ear, a porous polymer nano-scaffold is placed in with the stem cells. The cells are then chemically induced to become chondrocytes (aka. cartilage cells) while growing into the holes in the scaffold to create the shape of the ear. According to Dr. Ferretti, cellularized scaffolds – themselves a recent medical breakthrough – are much better at integrating than fully-synthetic implants, which are more prone to extrusion and infection.

cartilage2Dr. Ferretti continued that:

While we are developing this approach with children with ear defects in mind, it could ultimately be utilized in other types of reconstructive surgery both in children and adults.

Basically, this new, and potentially more advantageous technique would replace the current set of procedures in the treatment of defects in cartilage in children such as microtia, a condition which prevents the ear from forming correctly. At the same time, the reconstructive technology also has the potential to be invaluable in improving the quality of life of those who have been involved in a disfiguring accident or even those injured in the line of service.

mini_hearts`Next up, there is the “mini heart” created by Dr. Narine Sarvazyan of George Washington University in Washington D.C.. Designed to be wrapped around individual veins, these cuffs of rhythmically-contracting heart tissue are a proposed solution to the problem of chronic venous insufficiency – a condition where leg veins suffer from faulty valves, which prevents oxygen-poor blood from being pumped back to the heart.

Much like process for creating replacement ears, the mini hearts are grown  by coaxing a patient’s own adult stem cells into becoming cardiac cells. When one of those cuffs is placed around a vein, its contractions aid in the unidirectional flow of blood, plus it helps keep the vein from becoming distended. Additionally, because it’s grown from the patient’s own cells, there’s little chance of rejection. So far, the cuffs have been grown in the lab, where they’ve also been tested. But soon, Sarvazyan hopes to conduct animal trials.

mini_hearts2As Sarvazyan explained, the applications here far beyond treating venous insufficiency. In addition, there are the long-range possibilities for organ replacement:

We are suggesting, for the first time, to use stem cells to create, rather than just repair damaged organs. We can make a new heart outside of one’s own heart, and by placing it in the lower extremities, significantly improve venous blood flow.

One of the greatest advantages of the coming age of biomedicine is the ability to replace human limbs, organs and tissue using organic substitutions. And the ability to grow these from the patient’s own tissue is a major plus, in that it cuts down on the development process and ensures a minimal risk of rejection. On top of all that, the ability to create replacement organs would also significantly cut down on the costs of replacement tissue, as well as the long waiting periods associated with donor lists.

Imagine that, if you will. A future where a patient suffering from liver, kidney, circulatory, or heart problems is able to simply visit their local hospital or clinic, donate a meager supply of tissue, and receive a healthy, fully-compatible replacement after an intervening period (days or maybe even hours). The words “healthy living” will achieve new meaning!

 

Sources: gizmag.com, (2), nanomedjournal.com

The Future of Medicine: Elastic Superglue and DNA Clamps

nanomachineryIf there’s one thing medical science is looking to achieve, it’s ways of dealing with sickness and injuries that are less invasive. And now more than ever, researchers are looking to the natural world for solutions. Whether it is working with the bodies own components to promote healing, or using technologies that imitate living organism, the future of medicine is all about engineered-natural solutions.

Consider the elastic glue developed by associate professor Jeffrey Karp, a Canadian-born medical researcher working at Harvard University. Created for heart surgery, this medical adhesive is designed to replace sutures and staples as the principle means of sealing incisions and defects in heart tissue. But the real kicker? The glue was inspired by sticky natural secretions of slugs.

hlaa-4Officially known as hydrophobic light-activated adhesive (HLAA), the glue was developed in a collaboration between Boston Children’s Hospital, MIT, and Harvard-affiliated Brigham and Women’s Hospital. And in addition to being biocompatible and biodegradable (a major plus in surgery), it’s both water-resistant and elastic, allowing it to stretch as a beating heart expands and contracts.

All of this adds up to a medical invention that is far more user-friendly than stitches and staples, does not have to be removed, and will not cause complications. On top of all that, it won’t complicate healing by restricting the heart’s movements, and only becomes active when an ultraviolet light shines on it, so surgeons can more accurately bind the adhesive exactly where needed.

hlaa-3The technology could potentially be applied not just to congenital heart defects, but to a wide variety of organs and other body parts. In an recent interview with CBC Radio’s Quirks & Quarks, Karp explained the advantages of the glue:

Sutures and staples really are not mechanically similar to the tissues in the body, so they can induce stress on the tissue over time. This is a material that’s made from glycerol and sebacic acid, both of which exist in the body and can be readily metabolized. What happens over time is that this material will degrade. Cells will invade into it and on top of it, and ideally the hole will remain closed and the patient won’t require further operations.

In lab tests, biodegradable patches coated with HLAA were applied to holes in the hearts of live pigs. Despite the high pressure of the blood flowing through the organs, the patches maintained a leakproof seal for the 24-hour test period. HLAA is now being commercially developed by Paris-based start-up Gecko Biomedical, which hopes to have it on the market within two to three years.

dnaclampIn another recent development, scientists at the Université de Montréal have created a new DNA clamp capable of detecting the genetic mutations responsible for causing cancers, hemophilia, sickle cell anemia and other diseases. This clamp is not only able to detect mutations more efficiently than existing techniques, it could lead to more advanced screening tests and more efficient DNA-based nanomachines for targeted drug delivery.

To catch diseases at their earliest stages, researchers have begun looking into creating quick screening tests for specific genetic mutations that pose the greatest risk of developing into life-threatening illnesses. When the nucleotide sequence that makes up a DNA strand is altered, it is understood to be a mutation, which specific types of cancers can be caused by.

DNA-MicroarrayTo detect this type of mutation and others, researchers typically use molecular beacons or probes, which are DNA sequences that become fluorescent on detecting mutations in DNA strands. The team of international researchers that developed the DNA clamp state that their diagnostic nano machine allows them to more accurately differentiate between mutant and non-mutant DNA.

According to the research team, the DNA clamp is designed to recognize complementary DNA target sequences, binds with them, and form a stable triple helix structure, while fluorescing at the same time. Being able to identify single point mutations more easily this way is expected to help doctors identify different types of cancer risks and inform patients about the specific cancers they are likely to develop.

dna_cancerDiagnosing cancer at a genetic level could potentially help arrest the disease, before it even develops properly. Alexis Vallée-Bélisle, a Chemistry Professor at the Université de Montréal, explained the long-term benefits of this breakthrough in a recent interview:

Cancer is a very complex disease that is caused by many factors. However, most of these factors are written in DNA. We only envisage identifying the cancers or potential of cancer. As our understanding of the effect of mutations in various cancer will progress, early diagnosis of many forms of cancer will become more and more possible.

Currently the team has only tested the probe on artificial DNA, and plans are in the works to undertake testing on human samples. But the team also believes that the DNA clamp will have nanotechnological applications, specifically in the development of machines that can do targeted drug-delivery.

dna_nanomachineFor instance, in the future, DNA-based nanomachines could be assembled using many different small DNA sequences to create a 3D structure (like a box). When it encounters a disease marker, the box could then open up and deliver the anti-cancer drug, enabling smart drug delivery. What’s more, this new DNA clamp could prove intrinsic in that assembly process.

Professor Francesco Ricci of the University of Rome, who collaborated on the project, explained the potential in a recent interview:

The clamp switches that we have designed and optimized can recognize a DNA sequence with high precision and high affinity. This means that our clamp switches can be used, for example, as super-glue to assemble these nano machines and create a better and more precise 3D structure that can, for example, open in the presence of a disease marker and release a drug.

Hmm, glues inspired by mollusc secretions, machines made from DNA. Medical technology is looking less like technology and more like biology every day now!

Sources: cbc.ca, gizmag.com, (2)

The Future is… Worms: Life Extension and Computer-Simulations

genetic_circuitPost-mortality is considered by most to be an intrinsic part of the so-called Technological Singularity. For centuries, improvements in medicine, nutrition and health have led to improved life expectancy. And in an age where so much more is possible – thanks to cybernetics, bio, nano, and medical advances – it stands to reason that people will alter their physique in order slow the onset of age and extend their lives even more.

And as research continues, new and exciting finds are being made that would seem to indicate that this future may be just around the corner. And at the heart of it may be a series of experiments involving worms. At the Buck Institute for Research and Aging in California, researchers have been tweaking longevity-related genes in nematode worms in order to amplify their lifespans.

immortal_wormsAnd the latest results caught even the researchers by surprise. By triggering mutations in two pathways known for lifespan extension – mutations that inhibit key molecules involved in insulin signaling (IIS) and the nutrient signaling pathway Target of Rapamycin (TOR) – they created an unexpected feedback effect that amplified the lifespan of the worms by a factor of five.

Ordinarily, a tweak to the TOR pathway results in a 30% lifespan extension in C. Elegans worms, while mutations in IIS (Daf-2) results in a doubling of lifespan. By combining the mutations, the researchers were expecting something around a 130% extension to lifespan. Instead, the worms lived the equivalent of about 400 to 500 human years.

antiagingAs Doctor Pankaj Kapahi said in an official statement:

Instead, what we have here is a synergistic five-fold increase in lifespan. The two mutations set off a positive feedback loop in specific tissues that amplified lifespan. These results now show that combining mutants can lead to radical lifespan extension — at least in simple organisms like the nematode worm.

The positive feedback loop, say the researchers, originates in the germline tissue of worms – a sequence of reproductive cells that may be passed onto successive generations. This may be where the interactions between the two mutations are integrated; and if correct, might apply to the pathways of more complex organisms. Towards that end, Kapahi and his team are looking to perform similar experiments in mice.

DNA_antiagingBut long-term, Kapahi says that a similar technique could be used to produce therapies for aging in humans. It’s unlikely that it would result in the dramatic increase to lifespan seen in worms, but it could be significant nonetheless. For example, the research could help explain why scientists are having a difficult time identifying single genes responsible for the long lives experienced by human centenarians:

In the early years, cancer researchers focused on mutations in single genes, but then it became apparent that different mutations in a class of genes were driving the disease process. The same thing is likely happening in aging. It’s quite probable that interactions between genes are critical in those fortunate enough to live very long, healthy lives.

A second worm-related story comes from the OpenWorm project, an international open source project dedicated to the creation of a bottom-up computer model of a millimeter-sized nemotode. As one of the simplest known multicellular life forms on Earth, it is considered a natural starting point for creating computer-simulated models of organic beings.

openworm-nematode-roundworm-simulation-artificial-lifeIn an important step forward, OpenWorm researchers have completed the simulation of the nematode’s 959 cells, 302 neurons, and 95 muscle cells and their worm is wriggling around in fine form. However, despite this basic simplicity, the nematode is not without without its share of complex behaviors, such as feeding, reproducing, and avoiding being eaten.

To model the complex behavior of this organism, the OpenWorm collaboration (which began in May 2013) is developing a bottom-up description. This involves making models of the individual worm cells and their interactions, based on their observed functionality in the real-world nematodes. Their hope is that realistic behavior will emerge if the individual cells act on each other as they do in the real organism.

openworm-nematode-roundworm-simulation-artificial-life-0Fortunately, we know a lot about these nematodes. The complete cellular structure is known, as well as rather comprehensive information concerning the behavior of the thing in reaction to its environment. Included in our knowledge is the complete connectome, a comprehensive map of neural connections (synapses) in the worm’s nervous system.

The big question is, assuming that the behavior of the simulated worms continues to agree with the real thing, at what stage might it be reasonable to call it a living organism? The usual definition of living organisms is behavioral, that they extract usable energy from their environment, maintain homeostasis, possess a capacity to grow, respond to stimuli, reproduce, and adapt to their environment in successive generations.

openworm-nematode1If the simulation exhibits these behaviors, combined with realistic responses to its external environment, should we consider it to be alive? And just as importantly, what tests would be considered to test such a hypothesis? One possibility is an altered version of the Turing test – Alan Turing’s proposed idea for testing whether or not a computer could be called sentient.

In the Turing test, a computer is considered sentient and sapient if it can simulate the responses of a conscious sentient being so that an auditor can’t tell the difference. A modified Turing test might say that a simulated organism is alive if a skeptical biologist cannot, after thorough study of the simulation, identify a behavior that argues against the organism being alive.

openworm-nematode2And of course, this raises an even larger questions. For one, is humanity on the verge of creating “artificial life”? And what, if anything, does that really look like? Could it just as easily be in the form of computer simulations as anthropomorphic robots and biomachinery? And if the answer to any of these questions is yes, then what exactly does that say about our preconceived notions about what life is?

If humanity is indeed moving into an age of “artificial life”, and from several different directions, it is probably time that we figure out what differentiates the living from the nonliving. Structure? Behavior? DNA? Local reduction of entropy? The good news is that we don’t have to answer that question right away. Chances are, we wouldn’t be able to at any rate.

Brain-ScanAnd though it might not seem apparent, there is a connection between the former and latter story here. In addition to being able to prolong life through genetic engineering, the ability to simulate consciousness through computer-generated constructs might just prove a way to cheat death in the future. If complex life forms and connectomes (like that involved in the human brain) can be simulated, then people may be able to transfer their neural patterns before death and live on in simulated form indefinitely.

So… anti-aging, artificial life forms, and the potential for living indefinitely. And to think that it all begins with the simplest multicellular life form on Earth – the nemotode worm. But then again, all life – nay, all of existence – depends upon the most simple of interactions, which in turn give rise to more complex behaviors and organisms. Where else would we expect the next leap in biotechnological evolution to come from?

And in the meantime, be sure to enjoy this video of the OpenWorm’s simulated nemotode in action


Sources:
IO9, cell.com, gizmag, openworm

Year-End Health News: From Cancer Prevention to Anti-Aging

medical technology The year of 2013 ended with a bang for the field of health technology. And in my haste to cover as many stories as I could before the year ended, there were some rather interesting news developments which I unfortunately overlooked. But with the New Year just beginning, there is still plenty of time to look back and acknowledge these developments, which will no doubt lead to more in 2014.

The first comes from the UK, where the ongoing fight against cancer has entered a new phase. For years, researchers have been developing various breathalyzer devices to help detect cancer in its early phases. And now, a team from the University of Huddersfield plans to introduce one such cancer-detecting breathalyser (known as the RTube) into pharmacies.

lung-cancer-xrayAccording to Dr Rachel Airley, the lead researcher of the Huddersfield team, these molecules – which consist of genes, proteins, fragments of cells, secretions and chemicals produced by the metabolism of living tissue with the disease – form a kind of chemical and biological signature. Using breath testing devices like the RTube, Dr Airley developed a project to define a lung cancer “biomarker signature” that is detectable in breath.

According to Dr Airley:

When you get certain chemicals in someone’s breath, that can be a sign that there is early malignancy. We are looking to be able to distinguish between patients with early lung cancer and patients who have maybe got bronchitis, emphysema or non-malignant smoking related disease… or who have maybe just got a cough.

cancer_breathalyserThe goal of the project is to validate the signature in a large number of patients to ensure it can reliably distinguish between lung cancer and non-cancerous lung disease. Dr. Airley told us that this will require tracking the progress of patients for up to five years to see if the disease develops and can be linked back to a signature picked up in the patient’s breath at the beginning of the project.

So far, the project has secured £105,000 (US$170,000) in funding from the SG Court Pharmacy Group with the University of Huddersfield providing matching funding. The SG also operates the chain of pharmacies in the South East of England where the initial trials of the breathalyzer technology will be carried out.

The researchers predict that people visiting their local pharmacy for medication or advice to help them quite smoking will be invited to take a quick test, with the goal of catching the disease before the patients start to experience symptoms. Once symptoms present themselves, the disease is usually at an advanced stage and it is often too late for effective treatment.

cancer_cellDr Airley stresses that the trial is to test the feasibility of the pharmacy environment for such a test and to ensure the quality of the test samples obtained in this setting are good enough to pick up the signature:

There are 12,000 community pharmacies in Britain and there is a big move for them to get involved in primary diagnostics, because people visit their pharmacies not just when they are ill but when they are well. A pharmacy is a lot less scary than a doctor’s surgery.

Dr Airley also says her team is about to start collecting breath samples from healthy volunteers and patients with known disease as a reference point and hope to start the pharmacy trials within two years. If all goes well, she says it will be at least five years before the test is widely available.

max_plank_testThe next comes from Germany, where researchers have created a test that may help doctors predict one of the most severe side effects of antidepressants: treatment-emergent suicidal ideation (TESI). The condition is estimated to affect between four and 14 percent of patients, who typically present symptoms of TESI in the first weeks of treatment or following dosage adjustments.

So far doctors haven’t been able to find the indicators that could predict which patients are more likely to develop TESI, and finding the right medication and testing for side-effects is often a matter of simple trial and error. But a new test based on research carried out by the Max Planck Institute of Psychiatry in Munich, Germany, could change all that.

genetic_circuitThe researchers carried out genome-wide association studies on 397 patients, aged 18 to 75, who were hospitalized for depression, but were not experiencing suicidal thoughts at the time they began treatment. During the study, a reported 8.1 percent of patients developed TESI, and 59 percent of those developed it within the first two weeks of treatment.

To arrive at a list of reliable predictors, the team genotyped the whole group and then compared patients who developed TESI with those who didn’t. Ultimately, they found a subset of 79 genetic variants associated with the risk group. They then conducted an independent analysis of a larger sample group of in-patients suffering from depression and found that 90 percent of the patients were shown to have these markers.

antidepressantsIn short, this test has found that the most dangerous side-effect of antidepressant use is genetic in nature, and can therefore be predicted ahead of time. In addition, the research shed new light on the age of those affected by TESI. Prior to discovering that all age groups in the study were at risk, the assumption had been that under-25s were more at risk, leading to the FDA to begin issuing warnings by 2005.

According to some experts, this warning has had the effect of reducing the prescription of antidepressants when treating depression. In other words, patients who needed treatment were unable to get it, out of fear that it might make things worse. This situation could now be reversed that doctors can avail themselves of this new assessment tool based on the research.

DNA-MicroarrayThe laboratory-developed test, featuring a DNA microarray (chip), is being launched immediately by US company Sundance Diagnostics, ahead of submission to the FDA for market clearance. As Sundance CEO Kim Bechthold said in a recent interview:

A DNA microarray is a small solid support, usually a membrane or glass slide, on which sequences of DNA are fixed in an orderly arrangement. It is used for rapid surveys of the presence of many genes simultaneously, as the sequences contained on a single microarray can number in the thousands.

Ultimately, according to Bechthold, the aim here is to assist physicians in significantly reducing the risk of suicide in antidepressant use, and also to provide patients and families with valuable personal information to use with their doctors in weighing the risks and benefits of the medications.

Wow! From detecting cancer to preventing suicides, the New Year is looking bright indeed! Stay tuned for good news from the field of future medicine!

Sources: gizmag.com, hud.ac.uk, (2), mpg.de

Biggest Scientific Breakthroughs of 2013

center_universe2The new year is literally right around the corner, folks. And I thought what better way to celebrate 2013 than by acknowledging its many scientific breakthroughs. And there were so many to be had – ranging in fields from bioresearch and medicine, space and extra-terrestrial exploration, computing and robotics, and biology and anthropology – that I couldn’t possibly do them all justice.

Luckily, I have found a lovely, condensed list which managed to capture what are arguably the biggest hits of the year. Many of these were ones I managed to write about as they were happening, and many were not. But that’s what’s good about retrospectives, they make us take account of things we missed and what we might like to catch up on. And of course, I threw in a few stories that weren’t included, but which I felt belonged.

So without further ado, here are the top 12 biggest breakthroughs of 2013:

1. Voyager 1 Leaves the Solar System:

For 36 years, NASA’s Voyager 1 spacecraft has travelling father and farther away from Earth, often at speeds approaching 18 km (11 miles) per second. At a pace like that, scientists knew Voyager would sooner or later breach the fringe of the heliosphere that surrounds and defines our solar neighborhood and enter the bosom of our Milky Way Galaxy. But when it would finally break that threshold was a question no one could answer. And after months of uncertainty, NASA finally announced in September that the space probe had done it. As Don Gurnett, lead author of the paper announcing Voyager’s departure put it: “Voyager 1 is the first human-made object to make it into interstellar space… we’re actually out there.”

voyager12. The Milky Way is Filled with Habitable Exoplanets:

After years of planet hunting, scientists were able to determine from all the data gathered by the Kepler space probe that there could be as many as 2 billion potentially habitable exoplanets in our galaxy. This is the equivalent of roughly 22% of the Milky Way Galaxy, with the nearest being just 12 light years away (Tau Ceti). The astronomers’ results, which were published in October of 2013, showed that roughly one in five sunlike stars harbor Earth-size planets orbiting in their habitable zones, much higher than previously thought.

exoplanets23. First Brain to Brain Interface:

In February of 2013, scientists announced that they had successfully established an electronic link between the brains of two rats. Even when the animals were separated by thousands of kms distance, signals from the mind of one could help the second solve basic puzzles in real time. By July, a connection was made between the minds of a human and a rat. And by August, two researchers at the Washington University in St. Louis were able to demonstrate that signals could be transmitted between two human brains, effectively making brain-to-brain interfacing (BBI), and not just brain computer interfacing (BCI) truly possible.

brain-to-brain-interfacing4. Long-Lost Continent Discovered:

In February of this year, geologists from the University of Oslo reported that a small precambrian continent known as Mauritia had been found. At one time, this continent resided between Madagascar and India, but was then pushed beneath the ocean by a multi-million-year breakup spurred by tectonic rifts and a yawning sea-floor. But now, volcanic activity has driven the remnants of the long-lost continent right through to the Earth’s surface.

Not only is this an incredibly rare find, the arrival of this continent to the surface has given geologists a chance to study lava sands and minerals which are millions and even billions of years old. In addition to the volcanic lava sands, the majority of which are around 9 million years old, the Oslo team also found deposits of zircon xenocryst that were anywhere from 660 million to 1.97 billion years old. Studies of these and the land mass will help us learn more about Earth’s deep past.

mauritia5. Cure for HIV Found!:

For decades, medical researchers and scientists have been looking to create a vaccine that could prevent one from being infected with HIV. But in 2013, they not developed several vaccines that demonstrated this ability, but went a step further and found several potential cures. The first bit of news came in March, when researchers at Caltech demonstrated using HIV antibodies and an approach known as Vectored ImmunoProphylaxis (VIP) that it was possible to block the virus.

Then came the SAV001 vaccine from the Schulich School of Medicine & Dentistry at Western University in London, Ontario, which aced clinical trials. This was punctuated by researchers at the University of Illinois’, who in May used the “Blue Waters” supercomputer to developed a new series of computer models to get at the heart of the virus.

HIV-budding-ColorBut even more impressive was the range of potential cures that were developed. The first came in March, where researchers at the Washington University School of Medicine in St. Louis that a solution of bee venom and nanoparticles was capable of killing off the virus, but leaving surrounding tissue unharmed. The second came in the same month, when doctors from Johns Hopkins University Medical School were able to cure a child of HIV thanks to the very early use of antiretroviral therapy (ART).

And in September, two major developments occurred. The first came from Rutgers New Jersey Medical School, where researchers showed that an antiviral foot cream called Ciclopirox was capable of eradicating infectious HIV when applied to cell cultures of the virus. The second came from the Vaccine and Gene Therapy Institute at the Oregon Health and Science University (OHSU), where researchers developed a vaccine that was also able to cure HIV in about 50% of test subjects. Taken together, these developments may signal the beginning of the end of the HIV pandemic.

hiv-aids-vaccine6. Newly Discovered Skulls Alter Thoughts on Human Evolution:

The discovery of an incredibly well-preserved skull from Dmanisi, Georgia has made anthropologists rethink human evolution. This 1.8 million-year old skull has basically suggested that our evolutionary tree may have fewer branches than previously thought. Compared with other skulls discovered nearby, it suggests that the earliest known members of the Homo genus (H. habilis, H.rudolfensis and H. erectus) may not have been distinct, coexisting species, but instead were part of a single, evolving lineage that eventually gave rise to modern humans.

humanEvolution7. Curiosity Confirms Signs of Life on Mars:

Over the past two years, the Curiosity and Opportunity rovers have provided a seemingly endless stream of scientific revelations. But in March of 2013, NASA scientists released perhaps the most compelling evidence to date that the Red Planet was once capable of harboring life. This consisted of drilling samples out of the sedimentary rock in a river bed in the area known as Yellowknife Bay.

Using its battery of onboard instruments, NASA scientists were able to detect some of the critical elements required for life – including sulfur, nitrogen, hydrogen, oxygen, phosphorus, and carbon. The rover is currently on a trek to its primary scientific target – a three-mile-high peak at the center of Gale Crater named Mount Sharp – where it will attempt to further reinforce its findings.

mt_sharp_space8. Scientists Turn Brain Matter Invisible:

Since its inception as a science, neuroanatomy – the study of the brain’s functions and makeup – has been hampered by the fact that the brain is composed of “grey matter”. For one, microscopes cannot look beyond a millimeter into biological matter before images in the viewfinder get blurry. And the common technique of “sectioning” – where a brain is frozen in liquid nitrogen and then sliced into thin sheets for analysis – results in  tissue being deformed, connections being severed, and information being lost.

But a new technique, known as CLARITY, works by stripping away all of a tissue’s light-scattering lipids, while leaving all of its significant structures – i.e. neurons, synapses, proteins and DNA – intact and in place. Given that this solution will allow researchers to study samples of the brains without having to cut them up, it is already being hailed as one of the most important advances for neuroanatomy in decades.


9. Scientists Detect Neutrinos from Another Galaxy:

In April of this year, physicists working at the IceCube South Pole Observatory took part in an expedition which drilled a hole some 2.4 km (1.5 mile) hole deep into an Antarctic glacier. At the bottom of this hole, they managed to capture 28 neutrinos, a mysterious and extremely powerful subatomic particle that can pass straight through solid matter. But the real kicker was the fact that these particles likely originated from beyond our solar system – and possibly even our galaxy.

That was impressive in and off itself, but was made even more so when it was learned that these particular neutrinos are over a billion times more powerful than the ones originating from our sun. So whatever created them would have had to have been cataclysmicly powerful – such as a supernova explosion. This find, combined with the detection technique used to find them, has ushered in a new age of astronomy.

antarctic_expedition

10. Human Cloning Becomes a Reality:

Ever since Dolly the sheep was cloned via somatic cell nuclear transfer, scientists have wondered if a similar technique could be used to produce human embryonic stem cells. And as of May, researchers at Oregon Health and Science University managed to do just that. This development is not only a step toward developing replacement tissue to treat diseases, but one that might also hasten the day when it will be possible to create cloned, human babies.

cloning

11. World’s First Lab Grown Meat:

In May of this year, after years of research and hundred of thousands of dollars invested, researchers at the University of Maastricht in the Netherlands created the world’s first in vitro burgers. The burgers were fashioned from stem cells taken from a cow’s neck which were placed in growth medium, grown into strips of muscle tissue, and then assembled into a burger. This development may prove to be a viable solution to world hunger, especially in the coming decades as the world’s population increases by several billion.

labmeat112. The Amplituhedron Discovered:

If 2012 will be remembered as the year that the Higgs Boson was finally discovered, 2013 will forever be remembered as the year of the Amplituhedron. After many decades of trying to reformulate quantum field theory to account for gravity, scientists at Harvard University discovered of a jewel-like geometric object that they believe will not only simplify quantum science, but forever alters our understanding of the universe.

This geometric shape, which is a representation of the coherent mathematical structure behind quantum field theory, has simplified scientists’ notions of the universe by postulating that space and time are not fundamental components of reality, but merely consequences of the”jewel’s” geometry. By removing locality and unitarity, this discovery may finally lead to an explanation as to how all the fundamental forces of the universe coexist.

amplutihedron_spanThese forces are weak nuclear forces, strong nuclear forces, electromagnetism and gravity. For decades, scientists have been forced to treat them according to separate principles – using Quantum Field Theory to explain the first three, and General Relativity to explain gravity. But now, a Grand Unifying Theory or Theory of Everything may actually be possible.

13. Bioprinting Explodes:

The year of 2013 was also a boon year for bioprinting – namely, using the technology of additive manufacturing to create samples of living tissue. This began in earnest in February, where a team of researchers at Heriot-Watt University in Scotland used a new printing technique to deposit live embryonic stem cells onto a surface in a specific pattern. Using this process, they were able to create entire cultures of tissue which could be morphed into specific types of tissue.

Later that month, researchers at Cornell University used a technique known as “high-fidelity tissue engineering” – which involved using artificial living cells deposited by a 3-D printer over shaped cow cartilage – to create a replacement human ear. This was followed some months later in April when a San Diego-based firm named Organova announced that they were able to create samples of liver cells using 3D printing technology.


And then in August, researchers at Huazhong University of Science and Technology were able to use the same technique create the world first, living kidneys. All of this is pointing the way towards a future where human body parts can be created simply by culturing cells from a donor’s DNA, and replacement organs can be synthetically created, revolutionizing medicine forever.

14. Bionic Machinery Expands:

If you’re a science buff, or someone who has had to go through life with a physical disability, 2013 was also a very big year for the field of bionic machinery. This consisted not only of machinery that could meld with the human body in order to perform fully-human tasks – thus restoring ambulatory ability to people dealing with disabling injuries or diseases – but also biomimetic machinery.

ArgusIIThe first took place in February, where researchers from the University of of Tübingen unveiled the world’s first high-resolution, user-configurable bionic eye. Known officially as the “Alpha IMS retinal prosthesis”, the device helps to restore vision by converted light into electrical signals your retina and then transmitted to the brain via the optic nerve. This was followed in August by the Argus II “retinal prosthetic system” being approved by the FDA, after 20 years of research, for distribution in the US.

Later that same month, the Ecole Polytechnique Federale de Lausanne in Switzerland unveiled the world’s first sensory prosthetic hand. Whereas existing mind-controlled prosthetic devices used nerve signals from the user to control the movements of the limb, this new device sends electrostimulus to the user’s nerves to simulate the sensation of touch.

prosthetic_originalThen in April, the University of Georgia announced that it had created a brand of “smart skin” – a transparent, flexible film that uses 8000 touch-sensitive transistors – that is just as sensitive as the real thing. In July, researchers in Israel took this a step further, showing how a gold-polyester nanomaterial would be ideal as a material for artificial skin, since it experiences changes in conductivity as it is bent.

15. 400,000 Year-Old DNA Confuses Humanity’s Origin Story:

Another discovery made this year has forced anthropologist to rethink human evolution. This occurred in Spain early in December, where a team from the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany recovered a 400,000 year-old thigh bone. Initially thought to be a forerunner of the Neanderthal branch of hominids, it was later learned that it belonged to the little-understood branch of hominins known as Denisovans.

Human-evoThe discordant findings are leading anthropologists to reconsider the last several hundred thousand years of human evolution. In short, it indicates that there may yet be many extinct human populations that scientists have yet to discover. What’s more, there DNA may prove to be part of modern humans genetic makeup, as interbreeding is a possibility.

The Future of Medicine: Gene Therapy and Treatments

DNA-1Imagine a world where all known diseases were curable, where health problems could be treated in a non-invasive manner, and life could be extended significantly? Thanks to ongoing research into the human genome, and treatments arising out of it, that day may be coming soon. That’s the idea behind gene therapy and pharmacoperones – two treatment procedures that may make disease obsolete in the near future.

The first comes to us from the Utah School of Medicine, where researcher Amit Patel recently developed a non-invasive, naked DNA approach to deal with treating heart problems. His process was recently tested o Ernie Lively, an actor suffering from heart damage, who made a full recovered afterwards without ever having to go under the knife.

gene_therapyIn short, Patel’s method relies on a catheter, which he used to access the main cardiac vein (or coronary sinus), where a balloon is inflated to halt the flow of blood and isolate the area. A high dose of naked DNA, which codes for a protein called SDF-1, is then delivered. SDF-1, which stands for stromal cell-derived factor, is a potent attractant both for stem cells circulating in the bloodstream, and for those developing in the bone marrow.

Stromal cells, which manufacture SDF-1, are the creative force which knit together our fibrous connective tissues. The problem is they do not make enough of this SDF-1 under normal conditions, nor do specifically deliver it in just the right places for repair of a mature heart. By introducing a dose of these cells directly into the heart, Patel was able to give Lively what his heart needed, where it needed it.

gene_therapy1Compared to other gene therapies, the introduction of SDF-1 into cells was done without the assistance of a virus. These “viral vector” method have had trouble in the past due to the fact that after the virus helps target specific cells for treatment, the remnant viral components can draw unwanted attention from the immune system, leading to complications.

But of course, there is still much to be learned about the SDF-1 treatment and others like it before it can be considered a viable replacement for things like open-heart surgery. For one, the yield – the number or percentage of cells that take up the DNA – remains unknown. Neither are the precise mechanisms of uptake and integration within the cell known here.

Fortunately, a great deal of research is being done, particularly by neuroscientists who are looking to control brain cells through the use of raw DNA as well. Given time, additional research, and several clinical trials, a refined version of this process could be the cure for heart-related diseases, Alzheimer’s, and other disorders that are currently thought to be incurable, or require surgery.

pharmacoperones-protein-foldingAnother breakthrough treatment that is expected to revolutionize medicine comes in the form of pharmacoperones (aka. “protein chaperones”). a new field of drugs that have the ability to enter cells and fix misfolded proteins. These kind of mutations usually result in proteins becoming inactive; but in some cases, can lead to toxic functionality or even diseases.

Basically, proteins adopt their functional 3-D structure by folding linear chains of amino acids, and gene mutation can cause this folding process to go awry, resulting in “misfolding”. Up until recently, scientists believed these proteins were simply non-functional. But thanks to ongoing research, it is now known their inactivity is due to the cell’s quality control system misrouting them within the cell.

protein1Although this process has been observed under a microscope in recent years, a team led by Doctor P. Michael Conn while at Oregon Health & Science University (OHSU) was the first to demonstrate it in a living laboratory animal. The team was able to cure mice of a disease that makes the males unable to father offspring, and believe the technique will also work on human beings.

The team says neurodegenerative diseases, such as Alzheimer’s, Parkinson’s and Huntington’s, as well as certain types of diabetes, inherited cataracts and cystic fibrosis are just a few of the diseases that could potentially be cured using the new approach. Now working at the Texas Tech University Health Sciences Center (TTUHSC), Conn and his team are looking to conduct human trials.

DNA-molecule2One of the hallmarks of the coming age of science, technology and medicine is the idea that people will be living in post-mortality age, where all diseases and conditions are curable and life can be extended almost indefinitely. Might still sound like science fiction, but all of this research is indicative of the burgeoning trend where things that were once thought to be “treatable but not curable” is a thing of the past.

It’s an exciting time to be living in, almost as exciting as the world our children will be inhabiting – assuming things go according to plan. And in the meantime, check out this video of the SDF-1 gene therapy in action, courtesy of the University of Utah School of Medicine:


Sources: extremetech.com, gizmag.com