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Daily Archives: July 5, 2017
Bladder control: Is there a genetic treatment for urinary incontinence? – Genetic Literacy Project
Posted: July 5, 2017 at 8:47 am
For many women particularly those who are older, pregnant or overweighta sudden sneeze or laugh can trigger a squirt of urine. And forget about jumping jacks.
Thanks to a genome-wide association study (GWAS) that identifies a gene that may contribute to stress urinary incontinence (the sneezing kind) or even the less common urge incontinence(aka overactive bladder), women may be able to add a re-purposed drug or two to the list of gadgets, medications, and procedures that can lower leak frequency.
The best way to minimize stress incontinence, is to do Kegel exercises, which contract the pelvic floor muscles. Also helpful is the bridge pose in Pilates (head and feet down, abdomen up). Wearing absorbent pads may work, as can losing weight and avoiding foods and drinks that promote peeing.
Of course, there are appsfor leaks. iDry, BladderPal, and Kegel Kat chart trips to the bathroom, schedule Kegel reminders,or, in one app that Charmin sponsors, locate the nearest restroom.
Devices to treat urinary incontinence are held in the vagina to keep things in place, and resemble certain sexual aids that somewhat rhyme with mildew. Advertisements for one FDA-approved product that signals the bladder not to spasm proclaims itselfa trip to the gym for your pelvic floor.
Clinicaltrials.gov, my go-to site for upcoming treatments, lists suchinterventionsas a rectal balloon, a hydrogel shot into the urethra, electrical stimulation, and various single-incision devices. I was excited to see one study coaxing human induced pluripotent stem cells to become skeletal muscle progenitor cells, which presumably can be implanted into the muscles failing at supporting the offending organ.
Related approaches to treat urinary incontinence are already available: Electrodesin the vagina or rectum. Various meshes, slings, hammocks, tapes, and ribbons Drugs(the old antidepressant imipramine, estrogen gel, anticholinergics, and antimuscarinics) Designer vagina surgery that in one unfortunate woman triggered a lasting sensation akin to an internal invasion of fire ants
The non-surgical Nu-Vseemed promising until I noticed the spelling errors on the website, at the literary level of a Trump tweet.
At the recent European Society of Human Genetics annual meeting in Copenhagen, Rufus Cartwright,a visiting researcher at Imperial College, London, reported that his team genotyped 8,979 women, consulted six additional studies, and sampled bladder cells in some participants to identify expressed genes.
The idea behind a GWAS is to narrow down parts of the genome that include specific gene variants that are found nearly exclusively among people with a particular condition in this case, urinary incontinence. Complementing that analysis is cataloguing which genes are active in those with incontinence but not others the transcriptome.
Three genes of interest emerged:
CHRM3 encodes a cholinergic receptor. Its already the main drug target for urge incontinence. SULF2 encodes a signaling enzyme and Im not sure how its connected to incontinence. Maybe the published paper will eventually explain it. EDN1 specifies endothelin 1, a protein produced on the interior surfaces of blood vessels that is the most potent smooth muscle vasoconstrictor known. Its expressed differently in bladders of women with stress incontinence. Bingo!
Implicating endothelin 1 is exciting, because drugs that target its pathway are already used to treat pulmonary hypertensionand Raynauds syndrome, both of which arise from constricted blood vessels.
Cartwright described the work:
Previous studies had failed to confirm any genetic causes for incontinence. Although I was always hopeful that we would find something significant, there were major challenges involved in finding enough women to participate, and then collecting the information about incontinence. It has taken more than five years of work, and has only been possible thanks to the existence of high quality cohort studies with participants who were keen to help. Clearly this will need further debate and an analysis, not just of the cost to healthcare systems, but also of the benefit to women who may be spared the distress of urinary incontinence.
Finding a gene variant that could be behind urinary incontinence is more than a possible route to a repurposed new treatment. It is also a shout-out to the value of basic biomedical research something threatened in the proposed federal budget.
The awkwardly-acronymed genome-wide association study GWAS was at first more or less a fishing expedition, directing attention to a vast swath of genomic territory that might harbor a gene that could explain why a bunch of people with the same trait or condition share it significantly more often than do others. The roots of the technique go back to the earliest days of human genome sequencing, as researchers identified single nucleotide polymorphisms (SNPs) single DNA base differences in a population at specific sites among the 3.2 billion A, T, G, and C nitrogenous bases.
A GWAS is especially helpful to understand the causes of more common conditions, the ones that arise from interactions of more than one gene and the environment and that dont exhibit the simple inheritance patterns of rare, single-gene diseases. A GWAS result can often be articulated in just a sentence or two, but it represents an incredible amount of work.
Now, with so many human genome sequences annotated since thefirst GWASwas published a dozen years ago, the technologys time has truly come. Find enough participants, and a GWAS can zero in on important, possibly causative, genes. The evolution of GWAS is a little like that of Google maps, from imaging a town to highlighting a specific house.
The idea for a GWAS was hatched long before genome analysis became fast enough and deep enough to reveal enough information to dissect the molecular underpinnings of common conditions like incontinence. A short-sighted federal budget that slashes funding for the type of basic research that led to this and other biotechnologies is not in anyones best interest.
Ricki Lewis is a long-time science writer with a PhD in genetics. She writes the DNA Science blog at PLOS and contributes regularly to Rare Disease Report and Medscape Medical News. Ricki is the author of the textbook Human Genetics: Concepts and Applications (McGraw-Hill, 12thedition out late summer); The Forever Fix: Gene Therapy and the Boy Who Saved It (St. Martins Press, 2013) and the just-published second edition of Human Genetics: The Basics (Routledge Press, 2017). She teaches Genethics online for the Alden March Bioethics Institute at Albany Medical College and is a genetic counselor at CareNet Medical Group in Schenectady, NY. You can find her at her website or on Twitter at @rickilewis
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Bladder control: Is there a genetic treatment for urinary incontinence? - Genetic Literacy Project
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Getting Serious About Race – Stratfor Worldview (press release) (subscription) (blog)
Posted: at 8:47 am
Approaches to Unity
Over the millennia, people have found many different ways to solve coordination problems. Broadly speaking, there was a shift from a more cooperative hunter-gatherer toward a more coercive world after the agricultural revolution (which began around 9500 B.C. in the Middle East) followed by a shift back toward more cooperative versions in the last few hundred years. Between about 1000 B.C. and A.D. 1500, most people in the world lived in empires in which a small elite monopolizing military, administrative, religious and sometimes commercial functions used state power to integrate the activities of vast numbers of people in villages and towns. The Roman and Han Chinese empires coordinated tens of millions of subjects; the Song, Ming and Qing dynasties in China ruled over 100 million.
These empires tried to lower the costs of obtaining their subjects' obedience by promoting shared identities, but local, kin-based loyalties typically retained more appeal than the center. This became a fatal flaw when, in the last 200 years, empires had to compete with nation-states, which fused politics and ethnicity by insisting that the citizens of each state all shared a common ethnicity. Nation-states were, on the whole, much better than empires at persuading their citizens to make sacrifices for the common good, and the strains of competing against nation-states brought about the collapse of all the great traditional empires between 1911 (Qing China) and 1922 (Ottoman Turkey).
In reality, of course, the populations of nation-states were anything but homogeneous, and so their leaders always had to struggle to find ways to override genetic imperatives and make different people feel similar. We might range their responses along a spectrum from the illiberal to the liberal. Illiberal responses aimed to create homogeneity by destroying difference, in extreme cases by expelling or killing people who did not conform to the ideal. Communist Russia and China defined the ideal in terms of class and killed tens of millions of non-proletarians; fascist Germany defined it in terms of race and killed six million Jews.
Liberal responses, by contrast, aimed to create homogeneity by arguing that difference just did not matter. Two hundred years ago, even the most liberal societies excluded the bulk of their populations from full membership on the basis of race, sex, class, religion or some other variable. Since then, legislation and changing attitudes have steadily rolled back the exclusions. Thanks particularly to the defeat of fascism in World War II and Soviet communism in the Cold War, the illiberal vision of the nation-state was broadly discredited in the West, and for seventy years its democracies not only leaned toward liberal solutions but even pursued equality of outcome through aggressive programs of affirmative action.
For a good fifty years, anyone such as Barry Goldwater in the United States in 1964 and Enoch Powell in Britain in 1968 who emphasized racial differences between citizens courted political suicide. But that is now changing. Enough of the liberal consensus survives that politicians still have to treat race carefully, but in 2016 almost half of American voters supported a presidential candidate who promised to spend between $4 billion (his own lowest estimate) and $21.6 billion (the Department of Homeland Security's estimate) to build a wall to keep out Mexicans, and slightly more than half of the British electorate said it was ready to accept the major economic costs of leaving the European single market in order to limit immigration to 100,000 people per year. Something important is happening in politics.
Something important is happening in the scientific study of race too. In June 2000, in a speech celebrating the completion of the first survey of the entire human genome, President Bill Clinton announced that "one of the great truths to emerge from this triumphant expedition inside the human genome is that in genetic terms, all human beings, regardless of race, are more than 99.9 percent the same." This remains true; however, it is also true that humans and chimpanzees are genetically more than 98.8 percent the same. The 1.2 percent, however, makes all the difference in the world; and as they map genetic distributions in increasing detail, scientists have increasingly asked whether the 0.1 percent difference separating human genomes might not also matter.
As yet there is no clear answer to this question, as I learned in June at a conference at the Institute for Advanced Study in Toulouse. There, a group of distinguished economists, biologists, evolutionary anthropologists and psychologists debated the causes of institutional change, and several of the speakers discussed cross-country correlations between genetic differences and institutional differences. This is controversial stuff; any scientist who raises the possibility that genetic distance might have institutional and cultural consequences runs the risk of being dismissed as a Goldwater/Powell kind of crank, not fit for civilized company. However, at a time when racial arguments seem to be on the rise in Western politics, there can surely be few questions more important than this, and I was delighted to learn that scholars of this caliber were willing to take the risks.
However, not everyone is ready to do so. From Toulouse, I went directly to a conference at the British Academy in London, where another distinguished gathering, this time of historians, sociologists and experts in cultural studies were debating the concept of the "Anglosphere." This is a new name for the old idea that something vitally important connects Britain, the United States, Canada, Australia and New Zealand. In a famous book, Winston Churchill called this group The English-Speaking Peoples; other scholars since the late 19th century have preferred to speak of the Anglo-Saxon Race.
The newest term, "Anglosphere," leaves the question of whether we are investigating a racial or a linguistic category deliberately ambiguous. Speakers who thought "Anglosphere" was a useful concept tended to emphasize linguistic ties, arguing that these had created cultural and institutional similarities, which, in the wake of Brexit, should be deepened. Some even argued for that the time is ripe for a formal political union of Canzuk (Canada, Australia, New Zealand and the United Kingdom). Other speakers, however, insisted that the "Anglosphere" is a deeply racist idea, designed merely to legitimate White Anglo-Saxon Protestant oppression of minorities within these countries.
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Getting Serious About Race - Stratfor Worldview (press release) (subscription) (blog)
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In Neanderthal DNA, Signs of a Mysterious Human Migration – New York Times
Posted: at 8:46 am
The mystery only deepened in 2013. Another team of researchers retrieved mitochondrial DNA from a Neanderthal-like fossil at Sima de los Huesos, dating back 430,000 years.
The researchers had expected the DNA to resemble that of later Neanderthals in Europe. Instead, the mitochondrial DNA looked like it belonged to Denisovans even though the Denisova cave was 4,000 miles away in Siberia.
Last year, the researchers announced they had gathered a small fraction of the nuclear DNA from the same Sima de los Huesos fossil. That genetic material looked like it belonged to a Neanderthal, not a Denisovan.
Dr. Krause and his colleagues have now discovered new Neanderthal DNA that they believe can solve the mystery of this genetic mismatch.
In 2013, one of Dr. Krauses graduate students, Cosimo Posth, examined a Neanderthal fossil from a German cave called Hohlenstein-Stadel. He was able to reconstruct all of its mitochondrial DNA.
Dr. Posth estimated that the Neanderthal fossil was 120,000 years old and, more important, that it belonged to a branch of the Neanderthal family tree with a long history. He and his colleagues determined that all known Neanderthals inherited their mitochondrial DNA from an ancestor who lived 270,000 years ago.
All the data pointed to a sequence of events that could solve the puzzle that had bedeviled Dr. Krause for so long.
The common ancestors of Neanderthals and Denisovans spread across Europe and Asia over half a million years ago. Gradually the eastern and western populations parted ways, genetically speaking.
In the east, they became Denisovans. In the west, they became Neanderthals. The 430,000-year-old fossils at Sima de los Huesos Neanderthals with Denisovanlike genes capture the early stage of that split.
At some point before 270,000 years ago, African humans closely related to us moved into Europe and interbred with Neanderthals. Their DNA entered the Neanderthal gene pool.
Over many generations, most of that new DNA disappeared. But the mitochondrial DNA survived, passed down from mothers to their children. In fact, eventually all the Neanderthals inherited it, for some reason discarding the mitochondrial DNA that the species once had.
Dr. Posth said it was possible that early members of our own species moved from North Africa into Europe. Supporting this idea was the discovery reported last month of fossils of Homo sapiens in Morocco dating back 300,000 years.
But Dr. Posth said it was too soon to rule out another possibility: that these migrants belonged to another species in Africa closely related to us that scientists have yet to document.
I feel uncomfortable to give a name to these humans, Dr. Posth said.
Adam C. Siepel, a geneticist at Cold Spring Harbor Laboratory on Long Island who was not involved in the new study, said the hypothesis fit the evidence. I think thats absolutely possible, he said.
The new study raises a host of tantalizing implications about human history.
It is not possible to know just how many times these early Africans interbred with Neanderthals. But somewhere in prehistory, at least one female human from Africa must have carried the child of a male Neanderthal.
Now you have this hybrid child, which is probably pretty unusual-looking, Dr. Siepel said. One way or another, this hybrid individual was absorbed into Neanderthal society.
Dr. Siepel warned that the hypothesis hinges on the new DNA found in the Hohlenstein-Stadel fossil. Dr. Krause and his colleagues are now trying to retrieve nuclear DNA from the fossil.
The research at Sima de los Huesos shows just how far back in time scientists can now search for genes. The most revealing DNA might come from the mountains of Morocco.
There, scientists may be able to find genes from the earliest Homo sapiens, which they can then compare to Neanderthals.
These are things that I never thought possible five years ago, Dr. Krause said.
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In Neanderthal DNA, Signs of a Mysterious Human Migration - New York Times
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A French Choreographer Who Plays With the DNA of Dance – New York Times
Posted: at 8:46 am
Mr. Charmatz said the idea for 10000 Gestures came to him while watching one of his own pieces, Leve des Conflits Extended, at the Museum of Modern Art in New York in 2013. The idea of Leve was that it was based on limited gestures, so you were constantly circling through the sequence, like a living sculpture changing shape, he said. I thought, what if you flip that, and have a piece where none of the dancers ever repeat a gesture or do the same one as anyone else?
How do you create 10,000 completely different gestures? Over many, many hours working in a group on various themes, Mr. Charmatz explained. The themes included: doing nothing, microscopic movements (raising an eyebrow, flicking fingers), violence, eroticism, dance history, obscenity, and politics a Brexit means Brexit gesture made by Theresa May is even in there.
Each person has a different idea about what an erotic or a violent gesture might be, Mr. Charmatz said, so you get 25 variations on these ideas all happening together.
All the themes come in a specific order and last for a predetermined amount of time, he explained, although the number of dancers onstage and the groupings they create vary constantly. When it was pointed out that structuring the work through changing configurations might verge on good choreography, he laughed. Of course I want it to be compelling to watch, he said. Im bringing all my skills, even the ones I dont have, to this piece.
A major name in the European contemporary dance world, Mr. Charmatz has never followed a traditional path. He made his name when still quite young: In 1993, at 19, he choreographed Bras le Corps with Dimitri Chamblas, a friend from the Conservatoire de Lyon, where both had trained after defecting from the Paris Opera Ballet school to pursue a more contemporary dance orientation. The simplicity, physicality and direct attack of Bras le Corps, performed in a boxing ring with spectators seated on all sides, was a salutary shock in the highly theatricalized world of 1990s French dance.
Mr. Charmatz continued on an iconoclastic path. He did not form his own ensemble or accept commissions for companies. He danced with various troupes and collaborated with fellow choreographers while creating relatively few pieces, which were often more like installation works than conventional dance performances. From 2002 to 2004, he ran a nomadic school for 15 students; he has written a book about contemporary dance and is a co-author of two others.
When he was appointed, in 2009, to lead the National Choreographic Center in Rennes, his first decision was to change its name to the Muse de la Danse. Unlike most of the choreographers who head regional centers in France, Mr. Charmatz has no permanent company, and works on a project-to-project basis. (His term in Rennes ends in 2018.)
Boris brings movement and ideas together in space in extraordinary ways, said John McGrath, the director of the Manchester International Festival, who added that he was keen to make dance an increasingly important part of the biennial event. How do ideas manifest in art? The ambition of this work, the largest he has ever made, and the ambition of the idea felt like something we could really embrace.
The experience of creating 10000 Gestures has been grueling but exhilarating, said Mr. Chamblas, who still dances Bras le Corps with Mr. Charmatz and is performing in 10000 Gestures. It is all entirely fixed choreographically, and you have to be very precise, and switch from one parameter to another extremely fast, he said.
He gave a quick run-down: At the beginning of the piece are the gestures of doing nothing, but very fast, 25 of them; then 15 movements going backwards, then 55 crazy movements, then five rest positions. All of that is about a minute.
Mr. Charmatz said that an important early decision was to perform almost everything at high speed. Whats interesting is to create a storm, like snowflakes coming at you in the light, he said. Its as if we keep running, the piece will hold together. Or like the idea that when you are dying, your life flashes before you. It plays also with the idea, which people are always saying, that dance is ephemeral, that no two moments are ever the same.
The underlying idea of death, he added, felt important, and also the idea of being fully present. Referring to the recent suicide bombing at an Ariana Grande concert, he said: We are in Manchester, with everything that happened here, so I have used Mozarts Requiem in the piece. And not to be too political, but its easy to feel, especially in France, like you cant move for problems migrants, unemployment, Brexit. In some ways this is also about moving on. Every moment says now.
A version of this article appears in print on July 5, 2017, on Page C2 of the New York edition with the headline: Breaking Down the DNA of Dance.
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A French Choreographer Who Plays With the DNA of Dance - New York Times
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New DNA identified in AMIA Jewish center bombing points to suicide attack – Jewish Telegraphic Agency
Posted: at 8:46 am
BUENOS AIRES (JTA) A new set of DNA has been identified among the 85 victims of the AMIA Buenos Aires Jewish Center attack, strengthening the hypothesis that the 1994 attack was carried out by a suicide bomber.
The discovery was announced on Monday by the AMIA Special Investigation Unit of the General Prosecution, two weeks before the 23rd anniversary of the bombing that also injured hundreds. The final report after two years of investigation by a forensics team, reveals for first time the existence of a genetic profile among the reserved remains in the laboratory of the Federal Police that doesnt belong to any known victims.
With this information the prosecutors in charge of the special unit are working on the hypothesis of the suicide bomber and have already taken steps in the field of international cooperation to try to match the profile obtained with that of samples of relatives of the suspected individual. The suspected individual isnt mentioned in thereport released to the publicbut is part of a previous report by the special unit, where he is named asIbrahim Hussein Berro, a Lebanese citizen and an alleged member of the terrorist group Hezbollah.
In May 2016, U.S. Attorney General Loretta Lynch and FBI director James Comeymet in Washington, D.C., with Argentine Justice Minister Germn Garavano and offered to extendtechnical help to the Argentinean Justice Department regarding the AMIA attack and the death of special prosecutor Alberto Nisman.
The body of a possible suicide terrorist was never found or identified until now. Five Iranians are on the Interpol international police agencys most wanted list in connection with the AMIA 1994 attack, however.
ProsecutorsSabrina Namer, Roberto Salum and Leonardo Filippini have led the AMIA Special Investigatory Unit since their predecessor, Alberto Nisman, who was discovered shot dead in his apartment in January 2015 hours before he had been scheduled to appear in Congress to present allegations that then-President Cristina Fernandez de Kirchner orchestrated a secret deal to cover up Iranian officials alleged role in the AMIA bombing. Fernandez denied the allegations and judges threw out the case; it was reopened one year ago, though no conclusions have yet been announced.
The two years work on the DNA analysis was conducted by the Argentine Forensic Anthropology Team, the Forensic Medical Body and the University of Buenos Aires.The same team one year ago identified victim number 85 of the AMIA attack.
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New DNA identified in AMIA Jewish center bombing points to suicide attack - Jewish Telegraphic Agency
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Is running ability down to effort or DNA? And can it be proved? – The Guardian (blog)
Posted: at 8:46 am
From long-distance running to sprinting is ability down to DNA or effort or both. Composite: Getty Images
Growing up, I was always the dumpy, unsporty one. Matt, my older brother, was the skinny one who did the running, jumping and anything requiring quickness and coordination. He seemed to excel with ease while I laboured away on a sluggish course towards sub-mediocrity. This pattern lasted until our late teens when Matt, being older, beat me to booze. While he was away on a year-long, round-the-world bender, I took up running with a vengeance. It was time to turn the tables.
By the time Matt got back, Id joined the local running club and was training every day. It turned out that becoming a competent runner didnt require special talent, just lots of miles driven on by the sense I was outrunning my former, slouchy self. Matt, visibly shaken by my transformation, threw himself into training to catch up stymied by his three-kilo beer belly.
'The biggest shock is my aerobic potential, rated "low". OK, I'm no Mo Farah, but but surely my aerobic capacity is at least middling'
Well skip the gory details the dozens of races where I beat Matt with ease and fast-forward to 2012. I had been training consistently for six years by now. Matt was swiftly catching up, but I still had a clear edge in any race of more than10 miles, so I decided to step up to the marathon. After putting in the hardest three months training of my life, I came away with a shiny new PB of 2hr 28 min 46 sec.
The point is not to revel in my glory. My time was decent club standard but hardly impressive against proper British marathoners, let alone African elites. The point is, it was amazing for me, given my widely presumed lack of ability. If only I had realised sooner that I had the potential
Imagine someone had tested my genes as a podgy kid and told me: dont worry, youre an athlete inside, its only your Sherbet Dip Dab habit holding you back. What wonderful reassurance and motivation that would have been. But wait. What if they had looked at my results and said: sorry, its not through lack of effort that you are sub-mediocre its down to your DNA. What then?
I was intrigued to find companies offering to do just that test my DNA to determine my sporting potential. Could it really work? I decided to find out.
I got in touch with DNAFit, the leading provider, and asked if they would blind-test my DNA plus a few other samples. To my surprise, they said yes. A call to some friends with connections in elite sport secured a sample from a multi-Olympian and world champion runner (on condition I wouldnt reveal his identity) lets call him Mr Swift and another from pro cyclist James McLaughlin. If their results tallied with their achievements, I figured, DNA testing would be worth taking notice of.
A few weeks later the results were in. Swifts read as follows: Aerobic potential: medium, which qualified as an intermediate VO2max tendency. Yet according to his physiologist, Swifts VO2max is above 77 quite definitely not an intermediate score. Furthermore, the report deems his power/endurance profile as favouring power over endurance by a ratio of 70/30. Swift is one of the greatest endurance runners in the history of the sport. His injury risk, marked medium, is also at odds with the actual evidence. He has had many, many injuries, his physiologist confides. Id say his injury risk is untypically high.
McLaughlins results are similarly at odds with his track record: his aerobic potential is rated medium, with a slight tendency towards power over endurance. It doesnt ring true at all, McLaughlin tells me. My VO2max is very high, nearly 82, and Im a pure endurance rider I fare far better in long, sustained efforts than in sprints.
My own results also suggest a predisposition towards power rather than endurance, 56/47. This flies in the face of my running experience: I am hopeless at shorter, power-based events; the longer the race, the better I do (relative to others). The biggest shock is my aerobic potential, rated low. OK, Im no Mo Farah, but surely my aerobic capacity is at least middling, or how could I have run a sub-2hr 30min marathon?
I owe it to DNAFit to give them a chance to explain after all, they have been generous in blind-testing samples, opening themselves up to journalistic scrutiny. The companys head of sport science is the former Olympic sprinter Craig Pickering, to whom I reveal the disparities between our results and our sporting track records.
You almost certainly cant use genes to tell who will be a good athlete or not a good athlete, he responds. There is no talent identification use in this.
Fair enough, but our world-class marathon runner was rated as having medium aerobic potential.
Thats a great example of how you cant use genetics to tell you what sport youll be good at.
OK, fine, so what can genetic testing tell us?
What the tests and reports do is give you information on which to base your training, to have a better informed programme.
Citing one DNAFit-supported study on a small group of athletes, Pickering says that the results provide enough information to guide training, either towards power (short, sharp) or endurance (longer, slower) sessions. This insight, he says, relates to genetically determined trainability rate of fitness gain rather than aptitude. Yet this wasnt the impression I had been given by the reports, covered as they are with the word potential.
I stress my concern to Pickering that, had I received my apparently bleak results as a newcomer to running, my athletic ambitions might have been crushed. But he thinks I am missing the subtleties. Because you have a low aerobic potential we have options, we can fine-tune and target other areas like movement economy and efficiency.
Low aerobic potential? We know that marathoners rely on their aerobic capacity, so surely this implies that my prospects were limited. No, that isnt what it means, he replies. I accept that potential does imply that. The title should be changed. I often call it your aerobic trainability.
By by this point, I have to admit, I am erring towards unconvinced. My scepticism deepens when I read the Athlome Projects consensus statement on direct-to-consumer (DTC) DNA tests:
The information provided by DTC is virtually meaningless for prediction and/or optimisation of sport performance. There is currently no evidence that existing genetic tests provide information that is useful regarding either predisposition for a particular sport, prediction of the training response likely to occur to a particular training programme, or predisposition to exercise-related injury.
Athlomes founder, Professor Yannis Pitsiladis, is even more damning: These results are pointless, throw them away. There are no grounds for any of it.
According to Pitsiladis, although there is vast, exciting scope for genetics-guided training, the science has a very long way to go: Were beginning to understand that performance is determined by hundreds, possibly even thousands of interacting genes. Even once they are known, we may not be able to make predictions with clinical significance; we will need to take into account the environmental factors as well.
Countering the criticism from Pitsiladis and his Athlome colleagues, Pickering alleges sour grapes: Theyre annoyed that weve done it before them and thats why theyre causing these problems. Their main goal was to sell genetic tests to people, in my opinion. They are frustrated that were one or two years ahead of them.
Pitsiladis doesnt deny having commercial interests in genetic testing but insists he is involved only in areas with demonstrable utility, such as using genetics to create improved anti-doping tests. He draws a sharp distinction between genetically testing elite athletes to assess their shared traits and testing amateurs who are almost as diverse a group as the general population.
Parents whove failed as athletes go buy this stuff, desperate for their kids to succeed Selling direct to consumers is the problem.
That is precisely my concern, too. Cant Pickering appreciate that for people such as myself, starting out as the unsporty sibling with every reason to doubt my genetic potential, my gloomy test results could have snuffed out my marathon dreams before I had even tried a 5k run?
I share your concern, he replies. Its something that, as a company, we try to communicate. Our reports use the word potential, and that needs to change We have to do a better job, and well continue to try.
Make no mistake, talent matters. Athletes such as McLaughlin and Swift are prodigiously genetically blessed. My older brother, too, is a natural. He overtook me and became a far superior athlete, as I always suspected he would. But being the best you can be isnt about biology, it is art as much as science. Talent isnt destiny decipherable from DNA; it waits to be realised through hard work, like a sculpture inside a boulder. So dont let anyone put you off get hammering.
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Is running ability down to effort or DNA? And can it be proved? - The Guardian (blog)
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North Tonawanda man takes DNA test, finds connection to missing relative killed in WWII – wivb.com
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BUFFALO, N.Y. (WIVB) On the Fourth of July, we also remember the men and women who fought so that we can remain free.
More than 78 thousand soldiers were reported as missing in action in World War II.More than 70 years later, The Defense Department is still trying to bring closure to their families.
Its been more than a year process for Rich Zilkowski.Hes been waiting to find out whether he is related to a World War II soldier killed in action.
A Buffalo mans body was recently found in Germany. Now, Ziklowski says he finally has found closure.
Last year, Zilkowski got a call from a federal agent with the Army Casualty Office at Fort Knox.He was asked if he knew someone named Stanley Sachinowski.
Zilkowski said, To finally hear that name after so many years, a flood of memories; my grandmother and pictures, and famous war stories and her unrelenting belief that one day he would come home.
Uncle Stanley was considered a soldier missing in action.The pictures no longer exist, but for Zilkowski, the stories definitely did.
He said, I had heard the legend of my uncle, but I hadnt thought about him, I wasnt even born when he was killed.
The closest living relative to Sachinowksi, Zilkowski was asked to send in his DNA. He said, It was a match, it was a perfect match.
The agency had found a piece of his shoulder, in Germay. Zilkowski said, He was killed on December 5th 1944 by an accidental explosion near Germany. His remains were never recovered.
Now Zilkowski is learning everything from the exact spot he died, to how he played a role in one of the biggest battles in World War II.
Zilkowski said, People have come up to me and said this has been trusted on you for a reason, there is a purpose youre here.
Zilkowskis uncle died in the battle of Hrtgen forest, one of the longest battles in American history with the heaviest amount of casualties in world war II.
Rich Zilkowski will now receive any belongings that his Uncle Stan left behind. He says, for him this closes a chapter and answers unanswered questions.
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North Tonawanda man takes DNA test, finds connection to missing relative killed in WWII - wivb.com
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Flowers’ genome duplication contributes to their spectacular diversity – Phys.Org
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July 5, 2017 All flowers share a history of genome duplication, which may have contributed to their spectacular diversity. Credit: James Clark, University of Bristol
Scientists at the University of Bristol have shed new light on the evolution of flowers in research published today in the Royal Society journal Proceedings of the Royal Society B.
The evolution of plants has been punctuated by major innovations, none more striking among living plants than the flower.
Flowering plants account for the vast majority of living plant diversity and include all major crops.
The discovery that all flowering plants underwent a doubling of their genome at some point during their evolution has led to speculation that this duplication event triggered the diversification of this spectacular lineage, but the timing of this event has remained difficult to pin down.
Genome duplications provide a second copy of every single gene on which selection can act, potentially leading to new forms and greater diversity.
This process leads to the formation of large families of genes - we can examine the history of duplication in gene families in the genomes of all major groups of plants and then look to the rate of change in their DNA sequences in relation to the evidence presented by the plant fossil record. This provides us with a 'molecular clock', with which we can date evolutionary events.
James Clark from the University of Bristol's School of Earth Sciences, led the research.
He said: "We have found that, based on the signal of these gene families, the timing of this duplication does not support a direct role as a 'trigger' for flowering plant evolution.
"Rather, the duplication seems to have occurred at least 50 million years prior to the diversification of flowering plants.
"These results suggest that if the duplication had any impact on flowering plant evolution, then it may have been more of a 'long fuse' that may have paved the way for later innovations and diversification, rather than directly causing them."
Genome duplication undoubtedly had some role to play in the evolution of plants, and these findings highlight the need to carefully consider exactly when each duplication occurred.
Professor Philip Donoghue, also from the University of Bristol's School of Earth Sciences, co-authored the research.
He said: "Genome duplications are rare events, but they have often occurred at major turning points in evolutionary history, including in our own deep evolutionary history.
"Our approach will allow us and other scientists to get to the bottom of the relationship between genome duplication and evolutionary success."
Explore further: Researchers find size isn't everything in the world of plant evolution
More information: Constraining the timing of whole genome duplication in plant evolutionary history, Proceedings of the Royal Society B, rspb.royalsocietypublishing.org/lookup/doi/10.1098/rspb.2017.0912
Researchers from the University of Bristol have uncovered one of the reasons for the evolutionary success of flowering plants.
U.S. scientists may have solved Charles Darwin's "abominable mystery" of flowering plants' rapid evolution after they appeared 140 million years ago.
(PhysOrg.com) -- Researchers from the University of Florida and six other institutions have unlocked some of the key foundations for the evolution of seed and flowering plants.
(Phys.org)A team of researchers from several academic institutions in the U.S. has found that contrary to popular belief, conifers have experienced at least two complete genome duplication events over the course of their ...
(PhysOrg.com) -- The evolution and diversification of the more than 300,000 living species of flowering plants may have been "jump started" much earlier than previously calculated, a new study indicates. According to Claude ...
In a step that advances our ability to discern the ancient evolutionary relationships between different genes and their biological functions, researchers have provided insight into the present-day outcome of a single gene ...
Researchers at the University of Manchester have discovered a new species of yeast that could help brewers create better lager.
A study of burrowing bettongs in the Australian desert has shown for the first time that exposing threatened native animals to small numbers of predators in the wild teaches them how to avoid their enemies.
Scientists at the University of Bristol have shed new light on the evolution of flowers in research published today in the Royal Society journal Proceedings of the Royal Society B.
Maligned as a bee-killer and possibly cancer-causing, a common herbicide has turned out to be a boon for tadpoles making them more toxic to predators, researchers said Wednesday.
A wealth of previously undescribed plant enzymes have been discovered by scientists at the John Innes Centre. The team who uncovered the compounds hope that harnessing the power of these enzymes will unlock a rich new vein ...
For the first time, researchers have succeeded in establishing the relationships between 200-million-year-old plants based on chemical fingerprints. Using infrared spectroscopy and statistical analysis of organic molecules ...
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Flowers' genome duplication contributes to their spectacular diversity - Phys.Org
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NHS should use genome testing and predictive algorithms for personalised prevention – Wired.co.uk
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Getty Images / Pacific Press / Contributor
The NHS should embrace genomic testing for cancer patients and those with rare diseases, the UK's chief medical officer has said.
In her annual report, Dame Sally Davies, says that the ability to create personalised prevention methods is "now with us" and the health service should attempt to make the most of genomics and predictive algorithms.
"The importance of moving from a generalised top down model of health promotion to a more specific and personalised model is predicated on the reality that societal changes now pay much greater importance to individual autonomy," the annual report says.
Davies, who spoke at this year's WIRED Health conference, says health systems in the future must have a greater deal of individual autonomy.
In part, this can be achieved by genomic sequencing. The genome is the collection of a person's 20,000 genes and includes 3.2 billion letters of DNA. By sequencing the genome, it is possible to read every letter of a person's DNA and it is hoped doing so will allows clinicians to understand the origins of diseases.
The first complete human genome was sequenced in 2006 and since then the cost to do so has rapidly decreased. Genomics England, which is running a project to sequence 100,000 genomes, says sequencing now costs 1,000 to read every letter and takes two days.
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So far, proving its worth, the 100,000 genomes project has diagnosed three British men and two children with rare diseases based on their genomes. Davies says this approach should be expanded within the NHS going forward. Around 30,000 genomes have been sequenced so far.
"Personalised prevention must take place through the agency of the individual," the annual report says. "He or she is expected to change behaviour, or undergo screening, or in some other way to respond behaviourally to information".
Davies told The Guardian this approach has the potential to change the NHS and "has the potential to change medicine forever".
Davies says that rare inherited disorders should be tackled using a "combination of genomic, environmental and other biological markers". These could be inserted into a "risk prediction algorithm". When this can be achieved, it will be possible to enhance public health at a large scale, the report says.
There are obvious data protection considerations that need to be completed for the development of health tools that use a large number of people's data. A pioneering trial to create a prediction app between the NHS' Royal Free Trust and Google's DeepMind was found to have unlawfully used patient data. The test, which has since been altered, saw 1.6 million patients' data being used without proper authorisation.
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The ethics issue: Should we edit our children’s genomes? – New Scientist
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By Michael Le Page
The thought of shaping future generations to fit some pre-imagined ideal of strength and beauty is one that should make us uncomfortable. Once a fashionable field of enquiry, the study of eugenics remains associated with some of the worst excesses of the 20th century, from forced sterilisation to genocide. The lesson we might be tempted to draw from this is to let nature proceed unchecked, free from human meddling, and embrace the diversity it engenders.
But as ethically comforting as that sounds, deciding to do nothing is a decision in itself. We may like to think of humans as perfect, finished natural products that should not be interfered with, but natures creations are botch jobs, full of mindless mistakes. And evolutions way of getting rid of the worst mistakes is to let children suffer horribly and die young.
In the interests of human well-being, then, should we head back down the slippery slope?
Actually, we already have. In most countries, it is already legal to shape the genomes of our children in various ways, from the abortion of fetuses with Downs syndrome to the screening of embryos during IVF. Last year, the thin end of the wedge got that little bit thicker when the UK gave the go-ahead for what have been called three-parent babies, whose mitochondrial DNA is supplied by a third-party donor.
And now, thanks to the revolutionary genome-editing method known as CRISPR, we can directly edit the main genome of cells. In theory, CRISPR could be used to weed out the hundreds of mutations that make us more likely
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The ethics issue: Should we edit our children's genomes? - New Scientist
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