Nine years ago, Craig Venter sequenced the first complete individual human genome - his own. Now, he's finally starting to decode what it means for his future.
In early 2006, Craig Venter received a worrying email concerning his genome. Amid the six billion letters-long sequence of the A, T, C and G base pairs that constitute the vocabulary of DNA, geneticists at his private research institute had discovered a single, errant "C". This mutation, called APOE 4, marked him for increased risk of cardiovascular disease, and a tripled likelihood of Alzheimer's. The higher cardiovascular risk came as little surprise for someone with a family history of early heart-attack deaths. But the Alzheimer's was unexpected.
In one sense, few people could have been better prepared. In addition to having an entire institute's worth of geneticists on call, Venter is an undisputed pioneer in the field after leading his former company, Celera Genomics, in a fierce competition with the publicly funded Human Genome Project to produce the first complete human genome sequence. On June 26, 2000, in an uneasy truce that involved the intervention of then president Bill Clinton, the race was called as a tie.
One of the biggest problems facing doctors isn't patients' injuries or illnesses – it's the sheer quantity data. Most will spend more time going over medical records than actually dealing with their patients.
It's a problem that "AI doctors" could help address, with supercomputers processing information far faster and more efficiently. The problem, IBM's Kyu Rhee tells the crowd at WIRED Health, is trust.
"Studies have shown that if a doctor wears a stethoscope, you trust him or her more. But in 1816, Dr René Laennec, a French physician, was examining his patient, trying to listen to her heart sounds with his ears," said Rhee. "He took 40 pieces of paper, rolled it up, and created the first stethoscope."
Looking to the future, Rhee sees a "cognitive system" such as IBM's Watson supercomputer having a similar role to play in human healthcare. Such systems, he said, will become as ubiquitous as the humble stethoscope.
Rhee, who was a physician earlier in his career, recalls struggling with the sheer volume of data involved in treating patients. Worse, the data was presented, at the time, on reams of paper and charts. Throw in new materials and understanding generated by medical journals and it soon becomes a mountain of information that can hinder, rather than help.
Including a small amount of chocolate in your daily diet might help prevent diabetes and insulin resistance—and, as a result, protect the heart, too.
Researchers looked at data of 1,153 people aged 18-69 years old who were part of the Observation of Cardiovascular Risk in Luxembourg (ORISCAV-LUX) study, taking into account lifestyle and dietary factors, including consumption of tea and coffee. Both drinks can be high in polyphenol, the substance which may provide chocolate with its beneficial effects.
The findings, published in the British Journal of Nutrition, show that people who ate 100 grams of chocolate a day—basically one bar—had reduced insulin resistance and improved liver enzymes. Insulin sensitivity is a well-established risk factor to cardiovascular disease.
“Given the growing body of evidence, including our own study, cocoa-based products may represent an additional dietary recommendation to improve cardio-metabolic health,” says Saverio Stranges, visiting academic at the University of Warwick Medical School.
A circuit between two brain regions appears to play a big role in binge drinking. New research with mice suggests manipulating the circuit could be a target for treatment.
The two brain areas—the extended amygdala and the ventral tegmental area—have been implicated in alcohol binge drinking in the past. However, this is the first time that the two areas have been identified as a functional circuit, connected by long projection neurons that produce a substance called corticotropin releasing factor, or CRF for short.
“The puzzle is starting to come together, and is telling us more than we ever knew about before,” says Todd Thiele of UNC-Chapel Hill, whose work appears in the journal Biological Psychiatry. “We now know that two brain regions that modulate stress and reward are part of a functional circuit that controls binge drinking and adds to the idea that manipulating the CRF system is an avenue for treating it.”
The extended amygdala has long been known to respond to psychological stress and anxiety. The ventral tegmental area responds to the rewarding properties of natural reinforcers, such as food, but also to drugs and alcohol. [Booze makes these neurons crave more booze]
Thiele and colleagues found that alcohol, a physiological stressor, activates the CRF neurons in the extended amygdala, which directly act on the ventral tegmental area. These observations in mice suggest that when someone drinks alcohol, CRF neurons become active in the extended amygdala and act on the ventral tegmental area to promote continued and excessive drinking, culminating in a binge.
Thiele says the findings could shed light on future pharmacological treatments to curb binge drinking and may help prevent the transition to alcohol dependence.
Aboard the International Space Station, six people are currently orbiting the planet at 17,000 miles per hour, taking in fifteen sunrises and sunsets every day. The view is unbeatable; the floating sensation, sublime.
But good luck to them if they get sick.
There’s nothing on board the ISS that can definitively diagnose a disease, or identify the microbes behind it. Instead, sick astronauts have to settle for describing their symptoms to medical staff on the ground. They have no way of knowing for sure if their disease is bacterial, viral, or something else, or if raiding the station’s finite supply of antibiotics would do them any good.
If an astronaut could decipher the full genetic code of whatever’s plaguing her, she could identify the offending bug and work out if it’s vulnerable to any drugs. But until recently, this scenario would have been laughably impractical. Sequencers were all the size and weight of microwaves and fridges. They’d be impossible to cart aboard a space station, and probably wouldn’t have survived the trip.
Thanks to a British company called Oxford Nanopore Technologies, that’s no longer true.
In the spring of 2014, the company released a USB-powered sequencer called the MinION (pronounced “min-eye-on” not “min-ee-un,” and neither yellow nor cute). Four inches long, one inch wide, and 87 grams in weight, it’s smaller than most chocolate bars and smartphones. Earlier this year, I clutched one in my hand, with room for several more. One scientist describes it as “the DNA sequencer you can forget in your jacket pocket, which I’ve done once.”
Those in search of the fountain of youth should not hang up their boots, but in a laboratory in the Netherlands lies what may be the answer to a more realistic mystery: why some people look younger than others of the same age.
In a study published today, scientists in Rotterdam claim for the first time to have found a gene that specifically affects how old people look. The gene came to light when researchers noticed that people who carried mutations in the gene appeared, on average, two years older than they were.
The work, if verified, could help scientists unpick at the molecular level how people’s faces change with time, and ultimately develop ways to slow down the most visible effects of ageing.
“This is the first gene we have found for perceived age, and this single gene has an effect of two years,” said Manfred Kayser, professor of forensic molecular biology at Erasmus Medical Centre in Rotterdam. “We know there are others out there. We are just at the beginning.”
Scientists have long known that people appear to age at different rates, and that genes and lifestyle are both involved. Smoking and too much UV from sunlight speed up skin ageing, but the genetics at work in looking old - or young - have so far proved elusive.
The news often mentions norovirus when it’s relatively contained to a cruise ship or college campus, but it actually sickens nearly 700 million people a year.
The illness causes roughly $4.2 billion in health care costs and $60.3 billion in societal costs, new research concludes.
The findings, published online in the journal PLOS ONE, are believed to be the first to look at the global economic burden of norovirus, which is common in both wealthy and poor nations. The study suggests that much more attention is needed to combat a disease that kills approximately 219,000 a year around the world, the researchers say.
“You only seem to hear about it when people get sick on a cruise ship or at a restaurant, but norovirus is everywhere,” says study leader Sarah M. Bartsch, a research associate at the Johns Hopkins University Bloomberg School of Public Health.
“It doesn’t matter how old you are or if you’re in a wealthy country or a poorer one or if you’ve had it before—you can get it again,” Bartsch says. “And it is really unpleasant. But if we don’t focus on norovirus and teach people how to prevent it, little headway will be made to combat it.”
A complete picture of the areas that the immune system attacks to cause type 1 diabetes has finally been revealed by scientists.
The study, published in the journal Diabetes, discovered the fifth and final critical target at which the immune system errantly takes aim.
The team at the University of Lincoln say the findings could help develop new ways to prevent and treat the disease.
Diabetes UK said the findings were "impressive".
In type 1 diabetes, the immune system destroys the beta cells that make insulin - the hormone needed to keep blood sugar levels under control.
Studies looking at the unique antibodies made by patients with type 1 showed there were five key targets that the immune system attacked.
But working out exactly what they were has been like identifying someone from their silhouette.
Studies long ago discovered some of the targets, but the final one has proved elusive for two decades.
Dr Michael Christie, who led the research at the University of Lincoln, told the BBC: "With this new discovery, we have now finished identifying what the immune system is targeting - we have the complete picture."
Ray Kurzweil says technology is improving at an exponential rate. Peter Thiel says technological innovations couldn’t live up to the expectations. There are plenty of philosophies and schools of thought, but regarding the future of medicine, only two things are certain. Technology will not solve the problems that healthcare faces globally today. And the human …
Geraldine Hamilton puts lungs on chips - and livers and guts too. Her biotech firm Emulate makes USB-sized devices that recreate the conditions inside organs, so cells react more realistically to stimuli than they would in a Petri dish.
"The level of functionality that we're able to get within these tiny chips allows us a window into human biology," says Hamilton, the startup's chief scientific officer. "We get an insight into the way that chemicals, drugs and cosmetics affect humans."
The chips have been designed to mimic the surroundings of lung, liver and intestine cells. Lung cells, for instance, are contained in a channel where air is passed over them and liquid-carrying nutrients sweep by via a porous membrane below. A pump attached to the chip simulates the way these cells are pushed, pulled and squeezed in the body when we breathe.
Scientists in Japan say they have developed ultra-thin electronic "skin" that can measure oxygen levels when stuck to the body. The goal is to develop such "skin" to monitor oxygen levels in organs during surgery, say researchers in Japan. Tests on volunteers found the "skin" provided stable measurements of oxygen concentration in blood. The device contains micro-electronic components that light up in red, blue and green on the surface of the body. Scientists at the University of Tokyo are working on ways to display numbers and letters on the skin for health monitoring purposes. Wearable electronics are a future growth area in research, with interest in medical applications such as contact lenses that monitor glucose levels, or smart glasses. The latest findings are revealed in Science Advances. "The device unobtrusively measures the oxygen concentration of blood when laminated on a finger," said lead researcher Tomoyuki Yokota and colleagues. He added: "Ultimately, flexible organic optical sensors may be directly laminated on organs to monitor the blood oxygen level during and after surgery."
Here’s the scoop: scientists at Northwestern University 3D printed a functional ovary out of Jello-like material and living cells. When implanted into mice that had their ovaries removed, the moms regained their monthly cycle and gave birth to healthy pups.
The scientists presented their results last week at the Endocrine Society’s annual meeting in Boston.
Although the study was done in mice, “we developed this implant with downstream human applications in mind,” says lead author Dr. Monica Laronda in a press release.
If successful in humans, the prosthetic would be able to extend the female reproductive lifespan by decades. What’s more, it may also help restore fertility and hormone function in women who can’t have kids due to ovarian issues.
The announcement that scientists are to be allowed to edit the DNA of human embryos will no doubt provoke an avalanche of warnings from opponents of genetic modification (GM) technology, who will warn that we are “playing God” with our genes.
The opponents are right. We are indeed playing God with our genes. But it is a good thing because God, nature or whatever we want to call the agencies that have made us, often get it wrong and it’s up to us to correct those mistakes.
British researchers get green light to genetically modify human embryos
Sadly, of the half a million or so babies that will be born in the UK this year, about 4% will carry a genetic or major birth defect that could result in an early death, or a debilitating disease that will cause misery for the child and their family. This research will eventually lead to technologies that could edit DNA in the same way that we can edit text – to correct the mistakes before the child’s development goes to its final draft. Its successful implementation could reduce, and eventually eliminate, the birth of babies with severe genetic diseases.
The Labrador retriever, known as one of the greediest breeds of dog, is hard-wired to overeat, research suggests.
The dog is more likely to become obese than other breeds partly because of its genes, scientists at Cambridge University say.
The gene affected is thought to be important in controlling how the brain recognises hunger and the feeling of being full after eating.
The research could help in the understanding of human obesity.
"About a quarter of pet Labradors carry this gene [difference]," lead researcher Dr Eleanor Raffan told the BBC.
"Although obesity is the consequence of eating more than you need and more than you burn off in exercise, actually there's some real hard-wired biology behind our drive to eat," she added. Lifestyle factors
Canine obesity mirrors the human obesity epidemic, with lifestyle factors such as lack of exercise and high-calorie food both implicated - as well as genetics.
As many as two in three dogs (34-59%) in rich countries are now overweight.
The Labrador has the highest levels of obesity and has been shown to be more obsessed with food than other breeds.
There are around 100 trillion cells in the human body, each one containing three billion base pairs of DNA. If stretched in a line, they would cover the distance from Earth to the Moon more than 8,000 times. The point, according to Beijing Genomics CEO Ye Yin, is that there's a huge amount of information locked in each of us – and decoding it all could unlock big secrets.
BGI Genomics is one of the world's leading genomics companies. Among its successes are decoding the Sars virus and creating the first detection kit; sequencing the first ancient human's genome; and serving as a key sequencing centre in the 1000 Genomes Project.
Despite the information density of the human genome, the actual genetic diversity between species isn't that wide. Speaking at WIRED Health, Yin pointed out that we share 63 per cent of our genes with fish and up to 96 per cent with chimpanzees. Even between two humans, the individual genetic variance is only around 0.5 per cent, yet it can result in pronounced differences.
One of the most intriguing physics discoveries of the last century was the existence of antimatter, material that exists as the “mirror image” of subatomic particles of matter, such as electrons, protons and quarks, but with the opposite charge. Antimatter deepened our understanding of our universe and the laws of physics, and now the same idea is being proposed to explain something equally mysterious: memory.
When memories are created and recalled, new and stronger electrical connections are created between neurons in the brain. The memory is represented by this new association between neurons. But a new theory, backed by animal research and mathematical models, suggests that at the same time that a memory is created, an “antimemory” is also spawned – that is, connections between neurons are made that provide the exact opposite pattern of electrical activity to those forming the original memory. Scientists believe that this helps maintain the balance of electrical activity in the brain.
The growth of stronger connections between neurons, known as an increase in excitation, is part of the normal process of learning. Like the excitement that we feel emotionally, a little is a good thing. However, also like emotional excitement, too much of it can cause problems.
In fact, the levels of electrical activity in the brain are finely and delicately balanced. Any excessive excitation in the brain disrupts this balance. In fact, electrical imbalance is thought to underlie some of the cognitive problems associated with psychiatric and psychological conditions such as autism and schizophrenia.
In trying to understand the effects of imbalance, scientists reached the conclusion that there must be a second process in learning that acts to rebalance the excitation caused by the new memory and keep the whole system in check. The theory is that, just as we have matter and antimatter, so there must be an antimemory for every memory. This precise mirroring of the excitation of the new memory with its inhibitory antimemory prevents a runaway storm of brain activity, ensuring that the system stays in balance. While the memory is still present, the activity it caused has been subdued. In this way, antimemories work to silence the original memory without erasing it.
Mindfulness can control depression as well as mood-boosting drugs, the biggest ever review of the practice has shown.
A meta-analysis into the effectiveness of the treatment by Oxford University found that the therapy prevented people relapsing as well as anti-depressants.
Mindfulness Based Cognitive Behavioural Therapy (MCBT) claims to combine ‘ancient wisdom with 21st century science’. Through meditation techniques, patients are encouraged to accept their negative thoughts and feelings without allowing them to alter their emotional state or send them into a spiral of despair.
Patients who practiced mindfulness therapy were 23 per cent less likely to become depressed again within five months even if they stopped taking their medication, compared to those who continued the pills. However the researchers say it is too early to say that the therapy is better than drugs.
Nevertheless the researchers claim it offers an alternative for the millions of people who suffer recurrent depression.
Eating too much red meat and not enough fruit and vegetables could increase the body’s “biological age” and contribute to health problems, according to researchers.
Scientists found that a moderate increase in levels of serum phosphate in the body caused by red meat consumption, combined with a poor overall diet, increases your biological age – your “miles on the clock” – in contrast to your chronological or actual age.
The project, led by a team at the University of Glasgow, analysed people from the most deprived to the least deprived areas covered by NHS Greater Glasgow.
The results suggested accelerated biological ageing and diet-related phosphate levels among the most deprived males were directly related to their frequency of red meat consumption. This was linked to reduced kidney function and chronic kidney disease.
High phosphate levels have previously been linked to higher mortality risk, premature vascular ageing and kidney disease.
A genetic therapy has improved the vision of patients who would otherwise have gone blind.
A clinical study by British scientists has shown that the improvement is long-lasting and so the therapy is suitable to be offered as a treatment.
The researchers will apply for approval to begin trials to treat more common forms of blindness next year.
The therapy involve injecting working copy of the gene into the back of the eyes to help cells regenerate.
The results of the therapy, published in the New England Journal of Medicine, have been tried out on 14 patients in the UK and 18 in the US, Canada and Germany over the past four and a half years.
A team at Oxford University is treating a rare disorder called choroideremia. The disorder affects young men whose light-detecting cells in the backs of their eyes are dying because they have inherited a faulty gene.
Until now, there has been no treatment and they gradually become blind.
The researchers found that not only does the treatment halt the disease, it revives some of the dying cells and improves the patient's vision, in some cases markedly.
For many years, the prevailing view among both cognitive scientists and philosophers has been that the brain is sufficient for cognition, and that once we discover its secrets, we will be able to unravel the mysteries of the mind. Recently however, a growing number of thinkers have begun to challenge this prevailing view that mentality is a purely neural phenomenon. They emphasize, instead, that we are conscious in and through our living bodies. Mentality is not something that happens passively within our brains, but something that we do through dynamic bodily engagement with our surroundings. This shift in perspective has incredibly important implications for the way we treat mental health – and schizophrenia in particular.
In much of the Western world, and particularly in the United States, drugs are a primary mode of treatment for psychological disorders. This reflects the common assumption that mental illness results from faulty brain chemistry. Although it would be difficult to deny that medication can play an important role in treatment, this drug-based approach faces three major limitations:
It is doubtful whether disorders such as schizophrenia are caused by anything neurological (in the straightforward way that heart attacks are caused by arterial blockage). Indeed, many mental, emotional, and behavioural problems do not have clear-cut genetic or chemical causes, but instead result partly from difficult human experiences, stressful events, or other problems in their personal life. When minds “go wrong” it is not simply a matter of mechanical breakdown, and “fixing” neural wiring will not be sufficient to address the underlying causes of disorder.
There is evidence that antipsychotic medications are not sufficiently effective in managing the debilitating symptoms of schizophrenia, such as delusions and hallucinations. Many patients on medication continue to experience psychotic symptoms throughout their lifetimes. In addition, there is a worry that anti-psychotic drugs may cause negative side effects, such as apathy, muscle stiffness, weight gain, and tremors.
By focusing on just one organ of the body (i.e. the brain), drug-centred approaches overlook the role of bodily processes more broadly construed. Once we acknowledge that consciousness and cognition are fully embodied, this pushes us to move beyond narrowly defined, brain-based methods and to seek treatments that transform a subject’s overall neurobiological dynamics.
Elizabeth Parrish, CEO of Bioviva USA Inc. has become the first human being to be successfully rejuvenated by gene therapy, after her own company's experimental therapies reversed 20 years of normal telomere shortening.
Telomere score is calculated according to telomere length of white blood cells (T-lymphocytes). This result is based on the average T-lymphocyte telomere length compared to the American population at the same age range. The higher the telomere score, the "younger "the cells.
In September 2015, then 44 year- old CEO of BioViva USA Inc. Elizabeth Parrish received two of her own company's experimental gene therapies: one to protect against loss of muscle mass with age, another to battle stem cell depletion responsible for diverse age-related diseases and infirmities.
The treatment was originally intended to demonstrate the safety of the latest generation of the therapies. But if early data is accurate, it is already the world's first successful example of telomere lengthening via gene therapy in a human individual. Gene therapy has been used to lengthen telomeres before in cultured cells and in mice , but never in a human patient.
Telomeres are short segments of DNA which cap the ends of every chromosome, acting as 'buffers' against wear and tear. They shorten with every cell division, eventually getting too short to protect the chromosome, causing the cell to malfunction and the body to age.
Stretched out on a table in a large, bright operating theatre at the Royal London hospital, a patient is awaiting Shafi Ahmed’s first incision in a procedure that will remove cancerous tissue from his bowel. Around the table a team dressed in blue scrubs and face masks are gathered, exchanging the odd word, while cumbersome machines bearing bundles of wires hum gently in the background. Everyone is focused on the task in hand, getting ready to play their part. Except me.
Scrubless and without so much as a scalpel to pass to the surgeon, I am a mere spectator to this intricate event, a bystander gazing around the room in fascination while others labour at a life-changing task.
Not that the surgeons are bothered. Because although I feel like I am standing at the edge of the operating table, in reality I am sitting in my office chair.
In what could prove to be a game changer in stem cell therapy, a team led by scientists at the University of New South Wales (UNSW) have discovered a way to reprogram bone and fat cells to become stem cells that can regenerate multiple tissue types. The technique has already proved successful in mice and could be just a few years away from being safely available for regenerating any damaged tissue in humans.
According to the scientists, most of the unproven stem cell therapies today have been shown to be ineffective in forming new tissue. There are also issues related to using embryonic stem cells and stem cell generation.
"Embryonic stem cells cannot be used to treat damaged tissues because of their tumor forming capacity," says study co-author Dr. Vashe Chandrakanthan. "The other problem when generating stem cells is the requirement to use viruses to transform cells into stem cells, which is clinically unacceptable."
Multiple studies over the last year have looked at various ways of using stem cells to repair specific tissues and organs like the heart, eyes, and lungs. What makes the UNSW-led project different is that it turns existing bone and fat cells into induced multipotent stem cells (iMS), thus avoiding both the scientific and ethical issues surrounding stem cell use.
Researchers at Mayo Clinic have discovered that senescent cells — cells that no longer divide and accumulate with age — shorten lifespan by as much as 35 percent in normal mice.
Removing these aging cells delays tumor formation, preserves tissue and organ function, and extends lifespan without observed adverse effects, the researchers found, writing Feb. 3 in Nature.
“Cellular senescence is a biological mechanism that functions as an ‘emergency brake’ used by damaged cells to stop dividing,” says Jan van Deursen, Ph.D., Chair of Biochemistry and Molecular biology at Mayo Clinic, and senior author of the paper. “While halting cell division of these cells is important for cancer prevention, it has been theorized that once the ‘emergency brake’ has been pulled, these cells are no longer necessary.”
As the immune system becomes less effective, senescent cells build up and damage adjacent cells, causing chronic inflammation, which is closely associated with frailty and age-related diseases.
Mayo Clinic researchers used a compound called AP20187 to remove senescent cells, which delayed tumor formation and reduced age-related deterioration of several organs, extending mediian lifespan of treated mice by 17 to 35 percent. The mice also had a healthier appearance and less inflammation in fat, muscle and kidney tissue.
The research was supported by the National Institutes of Health, the Paul F. Glenn Foundation, the Ellison Medical Foundation, the Noaber Foundation, and the Mayo Clinic Robert and Arlene Kogod Center on Aging.
Van Deursen is a co-inventor of the technology that has been licensed by Mayo Clinic to Unity Biotechnology. Mayo Clinic and Van Deursen have a financial interest in the technology.
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