Category Archives: Transhuman News

On a wet Wednesday morning Im reading a glossy, A3-sized health report that promises to unpack the secrets of my DNA. It informs me that Im twice as likely to get heart disease as the average person. How cheery: Im in my mid-30s and have so far had a reasonably clean bill of health, so seeing those words makes my stomach drop. As far as I can recall there isnt any family history of heart disease. The only relief is that my chances of dying from sudden cardiac arrest or Alzheimers are normal.

This insight into my health is the result of a new DNA test from Pure Genetic Lifestyle. Promising a 99.97 per cent accurate test process, it sets itself apart from the myriad other DNA tests available but will set you back 1,300. The process is simple: you fill out a health questionnaire and post three mouth swabs to Holland. Within four weeks you receive an elegant-looking book that promises revelations about your body.

Pure Genetic Lifestyle

Heart disease aside, my results are riveting: as well as assessing my risks of illness and how to minimise them the report describes which foods will make me put on weight; the sports that I should be naturally good at; even the medicines my body can utilise and the ones I wont be able to break down. Such tests herald a revolution in our understanding of health, but first things first. What is DNA, exactly?

Deoxyribonucleic acid (DNA) contains the genetic blueprint that tells our cells how to grow and function. It is shaped in two strands that wrap around each other in a double-helix (famously discovered by Watson and Crick). DNA is made up of four basic building blocks, known as bases. The sequence of these bases determines our genetic makeup, containing enough information to make a particular protein that is called a gene. We have some 20,000 genes. Pure Genetic Lifestyle says it tests the 427 genes that commonly contain faults which increase your risk of disease and where the risks can be mitigated by lifestyle changes. It does not analyse the genes whose effects you can do nothing about.

Still, it isnt every day I learn I may be heading toward heart disease. Is a twice higher than average risk bad? Ethically, we cannot do more than give you a comparison to the average risk, explains the companys founder Maarten van Dijk, a remarkably tall and hearty Dutchman who previously ran Hollands premier health and beauty spa, Elysium. If, for example, you are 85 years old, your risk of Alzheimers is already one in five. You may well not wish to know that. The results we give are not about scaring people, they are about encouraging people to change their lives and be well.

Now that Ive been told my risk factor, I will do my best to follow the heart-related advice, but I suspect it will prove easy to stick to the bits I already do exercise, eat healthily, dont smoke but Ill struggle to keep alcohol down to one drink a day. Perhaps more achievable are recommendations related to other health risks to check my breasts for lumps, and to switch up the amount of impact sport I do (my risk of osteoporosis was also double the norm). But the advice all seems quite generic.

I asked Dr Daniel Wallerstorfer, the Austrian epigeneticist who developed the Pure Genetic Lifestyle programme, for some more bespoke examples. The test might discover you have a gene for haemochromatosis. This is a disorder where your body absorbs too much iron, which, over time, can lead to liver cirrhosis. If the test tells you that you are at risk, it may be that giving blood regularly will bring your iron levels down, and save you from a potentially life-threatening disease, he says.

We began doing these tests thinking in terms of disease-prevention, he continues. But, in fact, weight-management is a far more popular use for them than not dying of a disease. Knowing your genetic predisposition to burn fat, or your bodys ability to break down carbs, can enable you to determine a diet that may be terrifically more effective. Clients following the Pure Genetic Lifestyle nutrition programme lost more than double the control group.

The nutritional element of the test also cross-references a long list of foods with some 40 factors (how well you break down mercury, how much you need antioxidants to avoid various illnesses, whether you are at risk of heart disease from cholesterol etc) to determine your optimal diet. My results suggest that I should take extra magnesium, as I have a larger than average genetic requirement, and drink low-fat milk to reduce the risk for my heart. My body seems to break down most medicine normally, including antibiotics.

The 1,300 DNA test that could save your life - Credit: Illustrations: Tommy Parker

How much, though, can these results and their interpretations be trusted? My feelings are mixed, says Stephen Jones, emeritus professor of human genetics at University College London. There are certain cases where genetic tests are tremendously beneficial. Take hypercholesterolaemia. It is an inherited, genetic condition in which your body cannot break down bad cholesterol. If one person has it, you can test their family to assess who has the genetic risk, and give them advice that may be live-saving.

Using genetic tests as a first line of health investigation will eventually be the norm, but we do not have sufficient knowledge to do it yet, Jones adds. Dr Sharon Moalem, a geneticist and bestselling author of Survival of the Sickest (about how some illnesses confer an evolutionary advantage), agrees. I have a lot of hesitation, he tells me over the phone from New York. There are too many claims being made, too soon.

We know that identical twins, with the same genomes, have different health patterns. The epigenetics, the environment in which your genes function, are tremendously important, Moalem adds. He also points out the hazards of testing: If you take a genetic test and find you are at higher risk of something serious, an insurance company can discriminate. A client of mine found a certain gene variant which meant his whole family lost their medical insurance. While that would be concerning in the UK, it could mean disaster in the States.

To this end, Moalems new book The Gene Restart suggests simple tests that can be done at home as an insight into losing weight. If you chew a water biscuit, for some people the taste turns sweet. Those people have the genetic ability to break down carbohydrates and burn up their energy. If it doesnt turn sweet, you may be wise to lay off potatoes. After speaking to Moalem, I was mindful of writing this article and sharing my data. However, I had been lucky with my results. I am, though, taking them with a pinch of scepticism.

I put the recommendation for me to eat low-fat dairy and vegetable oils to Karen Alexander, a nutritional therapist at Wild Nutrition. This is archaic advice: corn oil can be very inflammatory and bad for the heart. Also, rather than low-fat milk, it would be far better to have a small amount of full fat. When I talked about the test with one friend, he told me he sent off for one because there is a lot of cancer in his family. When he got an apparent genetic All clear, he went back to smoking.

That is lethal, comments Jones. If he responds like that, the worst thing he ever did was to take that test. Worse still if he went for a test like 23andMes, whose accuracy is around 65 per cent, and which in 2013 was banned from giving patients health reports by the US Food and Drug Administration as the reports were deemed unreliable. This year, it relaunched in the States with wellness data, but not the genetic risk factors of its original UK test.

Writing this article has made me promise myself I will learn how to check my breasts, and be sure to read up on osteoporosis. The real revelation was not about me, but about where genetic medicine is heading. I ask Wallerstorfer about the future of genetic medicine. He jokes that he knows his own future: if he has children with his girlfriend, because of his ginger gene every second child will be strawberry blond.

More seriously, he adds that by 2050, I think we will test children at birth, you will be able to alter their risk of genetic diseases at that time and then bring them up with the ultimate nutrition and exercise programmes for their genes. For the moment, though, unless you have plenty of money to throw around, you may be better off taking regular exercise, drinking less, eating well and maybe investing 80p in some water biscuits.

The Pure Genetic Lifestyle test costs 450 for a fullPharma, Nutrition and Weighttest, and 1,365 for the book;puregeneticlifestyle.com .

Mood boosters

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Would you take a new 1300 DNA test that could save your life? - Yahoo News

BOSTON, Feb. 6, 2017 /PRNewswire-USNewswire/ -- In the summer of 2015, a team at Boston Children's Hospital and Harvard Medical School reported restoring rudimentary hearing in genetically deaf mice using gene therapy. Now the Boston Children's research team reports restoring a much higher level of hearing down to 25 decibels, the equivalent of a whisper using an improved gene therapy vector developed at Massachusetts Eye and Ear.

The new vector and the mouse studies are described in two back-to-back papers in Nature Biotechnology (published online February 6).

While previous vectors have only been able to penetrate the cochlea's inner hair cells, the first Nature Biotechnology study showed that a new synthetic vector, Anc80, safely transferred genes to the hard-to-reach outer hair cells when introduced into the cochlea (see images). This study's three Harvard Medical School senior investigators were Jeffrey R. Holt PhD, of Boston Children's Hospital; Konstantina Stankovic, MD, PhD,of Mass. Eye and Ear and Luk H. Vandenberghe, PhD, who led Anc80's development in 2015 at Mass. Eye and Ear's Grousbeck Gene Therapy Center.

"We have shown that Anc80 works remarkably well in terms of infecting cells of interest in the inner ear," says Stankovic,an otologic surgeon at Mass. Eye and Ear and associate professor of otolaryngology at Harvard Medical School. "With more than 100 genes already known to cause deafness in humans, there are many patients who may eventually benefit from this technology."

The second study, led by Gwenalle Gloc, PhD, of the Department of Otolaryngology and F.M. Kirby Neurobiology Center at Boston Children's, used Anc80 to deliver a specific corrected gene in a mouse model of Usher syndrome, the most common genetic form of deaf-blindness that also impairs balance function.

"This strategy is the most effective one we've tested," Gloc says. "Outer hair cells amplify sound, allowing inner hair cells to send a stronger signal to the brain. We now have a system that works well and rescues auditory and vestibular function to a level that's never been achieved before."

Ushering in gene therapy for deafness

Gloc and colleagues at Boston Children's Hospital studied mice with a mutation in Ush1c, the same mutation that causes Usher type 1c in humans. The mutation causes a protein called harmonin to be nonfunctional. As a result, the sensory hair cell bundles that receive sound and signal the brain deteriorate and become disorganized, leading to profound hearing loss.

When a corrected Ush1c gene was introduced into the inner ears of the mice, the inner and outer hair cells in the cochlea began to produce normal full-length harmonin. The hair cells formed normal bundles (see images) that responded to sound waves and signaled the brain, as measured by electrical recordings.

Most importantly, deaf mice treated soon after birth began to hear. Gloc and colleagues showed this first in a "startle box," which detects whether a mouse jumps in response to sudden loud sounds. When they next measured responses in the auditory regions of the brain, a more sensitive test, the mice responded to much quieter sounds: 19 of 25 mice heard sounds quieter than 80 decibels, and a few could heard sounds as soft as 25-30 decibels, like normal mice.

"Now, you can whisper, and they can hear you," says Gloc, also an assistant professor of otolaryngology at Harvard Medical School.

Margaret Kenna, MD, MPH, a specialist in genetic hearing loss at Boston Children's who does research on Usher syndrome, is excited about the work. "Anything that could stabilize or improve native hearing at an early age would give a huge boost to a child's ability to learn and use spoken language," she says. "Cochlear implants are great, but your own hearing is better in terms of range of frequencies, nuance for hearing voices, music and background noise, and figuring out which direction a sound is coming from. In addition, the improvement in balance could translate to better and safer mobility for Usher Syndrome patients."

Restoring balance and potentially vision

Since patients (and mice) with Usher 1c also have balance problems caused by hair-cell damage in the vestibular organs, the researchers also tested whether gene therapy restored balance. It did, eliminating the erratic movements of mice with vestibular dysfunction (see images) and, in another test, enabled the mice to stay on a rotating rod for longer periods without falling off.

Further work is needed before the technology can be brought to patients. One caveat is that the mice were treated right after birth; hearing and balance were not restored when gene therapy was delayed 10-12 days. The researchers will do further studies to determine the reasons for this. However, when treated early, the effects persisted for at least six months, with only a slight decline between 6 weeks and 3 months. The researchers also hope to test gene therapy in larger animals, and plan to develop novel therapies for other forms of genetic hearing loss.

Usher syndrome also causes blindness by causing the light-sensing cells in the retina to gradually deteriorate. Although these studies did not test for vision restoration, gene therapy in the eye is already starting to be done for other disorders.

"We already know the vector works in the retina," says Gloc, "and because deterioration is slower in the retina, there is a longer window for treatment."

"Progress in gene therapy for blindness is much further along than for hearing, and I believe our studies take an important step toward unlocking a future of hearing gene therapy," says Vandenberghe, also an assistant professor of ophthalmology at Harvard Medical School. "In the case of Usher syndrome, combining both approaches to ultimately treat both the blinding and hearing aspects of disease is very compelling, and something we hope to work toward."

"This is a landmark study," says Holt, director of otolaryngology research at Boston Children's Hospital, who was also a co-author on the second paper. "Here we show, for the first time, that by delivering the correct gene sequence to a large number of sensory cells in the ear, we can restore both hearing and balance to near-normal levels."

Bifeng Pan,Charles Askew and Alice Galvin of Boston Children's were co-first authors on the study led by Gloc. Lukas Landegger of Mass. Eye and Ear, Pan, and Askew were co-first authors on the study of the vector. The work was supported by the Bertarelli Foundation, the Kidz-b-Kidz Foundation, the Foundation Fighting Blindness, the Jeff and Kimberly Barber Gene Therapy Research Fund and the Manton Center for Orphan Disease Research at Boston Children's Hospital. Luk Vandenberghe is an inventor on Anc80 (patent #WO/2015/054653) and other gene transfer technologies, for which he receives royalties. These technologies are licensed to several gene therapy companies, some of which fund research in Vandenberghe's laboratory (Selecta Biosciences and Lonza Houston).

About Boston Children's Hospital Boston Children's Hospitalis home to the world's largest research enterprise based at a pediatric medical center, where its discoveries have benefited both children and adults since 1869. More than 1,100 scientists, including sevenmembers of the National Academy of Sciences,11members of the Institute of Medicine and10members of the Howard Hughes Medical Institute comprise Boston Children's research community. Founded as a 20-bed hospital for children, Boston Children's today is a 404-bed comprehensive center for pediatric and adolescent health care. Boston Children's is also the primary pediatric teaching affiliate of Harvard Medical School.For more, visit ourVector and Thriving blogsand follow us @BostonChildrens , @BCH_Innovation , FacebookandYouTube .

About Massachusetts Eye and Ear Mass. Eye and Ear clinicians and scientists are driven by a mission to find cures for blindness, deafness and diseases of the head and neck. Now united with Schepens Eye Research Institute, Mass. Eye and Ear is the world's largest vision and hearing research center, developing new treatments and cures through discovery and innovation. Mass. Eye and Ear is a Harvard Medical School teaching hospital and trains future medical leaders in ophthalmology and otolaryngology, through residency as well as clinical and research fellowships. Internationally acclaimed since its founding in 1824, Mass. Eye and Ear employs full-time, board-certified physicians who offer high-quality and affordable specialty care that ranges from the routine to the very complex. In the 20162017 "Best Hospitals Survey," U.S. News & World Report ranked Mass. Eye and Ear #1 in the nation for ear, nose and throat care and #1 in the New England for eye care. For more information about life-changing care and research, or to learn how you can help, please visit MassEyeAndEar.org.

CONTACTS: Bethany Tripp Boston Children's Hospital 617-919-3110 bethany.tripp@childrens.harvard.edu

Suzanne Day Mass. Eye and Ear 617-573-3897 Suzanne_Day@meei.harvard.edu

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/gene-therapy-restores-hearing-in-deaf-mice-down-to-a-whisper-300401622.html

SOURCE Boston Children's Hospital

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Gene therapy restores hearing in deaf mice down to a whisper - Yahoo News

An orthopedist orders special testing to determine if an elder patient with right hip pain which limits walking and driving might need surgery to improve their quality of life.

Physicians are rigorously trained to make decisions in the best interest of their patients. Even after medical school and residency, doctors must follow the challenges of evidence-based medicine, standard of care, peer review, and muster the time for continuing medical education and certification.

Doctrors are not only held accountable by their peers, but also legally as they could be subject to lawsuits. Additionally, state licensing agencies overseeing medical professionals can discipline them should they not practice medicine up to the standards of quality medical decision-making.

However, what if the teens pediatrician feels hospitalization is acutely needed for mental illness, but it is denied by the insurance company? What if the Workers Comp physician orders an MRI for the powerline workers ailing right arm, but it is denied? Or, if special testing to evaluate grandmas worsening mobility and pain is turned down by the HMO? Who is held accountable?

To justify requests for specific patient care, physicians are forced to have Peer-to-Peer phone discussions with doctors employed by insurance companies, Workers Comp, and HMOs. Frequently, these conversations result in denial of further care without medical justification. A controversial question arises: Are denials by these company doctors considered a medical decision?

They are not. These decisions are considered utilization review. What does this mean? They are making decisions based on controlling costs, which is in the financial interest of the for-profit agencies they serve, but not necessarily in the best interest of the patient. Even though they are licensed doctors practicing medicine, their role in patient care is under the guise of utilization review, and therefore not under the scrutiny of state licensing agencies.

What if these physicians deny care because they are incentivized to enhance personal bonuses? More so, what if some are making decisions outside the realm of their medical expertise (e.g. a urologist on a diabetic)? Who holds these physicians accountable for moral transgressions, or lack of judgement?

In California, we have a Medical Board which oversees licensing for all state physicians. If you report a licensed physician for making substandard medical decisions, an investigation ensues. If though the doctor is employed by an insurance company, Workers Comp, or HMO and makes denial decisions on their behalf, it is considered utilization review and they are not held accountable.

I do not pretend to understand every law and rule governing the Medical Board. But these companies have created legal barriers protecting doctors who might make substandard medical decisions.

Many physicians continue to fight for patient care rights despite frustration and helplessness of ongoing phone calls and paperwork they face. Yet substandard medical care will hamper their efforts as laws are manipulated and oversight is negligible.

Making medical decisions has never been easy. Assuring accountability makes it even harder.

Gene Uzawa Dorio, M.D.

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Dr. Gene Dorio: Making Medical Decisions Without Accountability - KHTS Radio

But the 49-year-old, who had pursued a career in football before joining the world of science, was not one to be deterred. Born in Londons East End into a single-parent, working-class family, his journey into the fields of science, academia and business has been anything but conventional. When my mother fell pregnant with me my father was on the run from prison, he says.

There had been 10 years of investment in this editing tool we bought and when we got the IP we went around to all the universities who had used it over the past decade and made models and offered them a route to selling those models, in return for a nice royalty payment, he says.

Within weeks, Horizon started selling these genetically engineered cell lines and in the first year made $500,000 in revenue and turned a profit. In 2009, sales rose to $1.2m.

At that point we started getting real interest because sequencing costs had come down even more and we were doing well in a recession, Disley recalls. That led to further investment. Companies such as Genentech, later acquired by Roche, put in 1m, existing investors stumped up more cash, and venture capital flowed in.

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How gene editing is revolutionising the pharmaceuticals industry - Telegraph.co.uk