Daily Archives: February 6, 2017

My Life with Plaque Psoriasis and How I’m taking Control – Tucson Local Media

Posted: February 6, 2017 at 2:47 pm

(BPT) - Whitney was only 19 years old, home from college freshman year, when her mother noticed spots on her arms and elbows. As any parent would be, Whitneys mother was concerned and suggested her daughter see a dermatologist. That visit revealed her diagnosis of moderate-to-severe plaque psoriasis. Little did Whitney know, this would be a lifelong battle that would impact all aspects of her life.

Plaque psoriasis is a chronic autoimmune skin disease that speeds up the growth cycle of skin cells, causing patches of thick red skin and silvery scales affecting approximately 6 million Americans.1

When I was younger and my psoriasis was flaring, it was very embarrassing and shameful, Whitney said. People didnt understand that I was not contagious. I can remember being turned away by hair stylists who didnt want to cut my hair and being refused a pedicure. My friends and boyfriends didnt understand what was going on with me and I could feel them pulling away at times.

After talking with her doctor about her symptoms, she prescribed a biologic treatment called STELARA (ustekinumab).

I went through some very challenging times with my psoriasis symptoms. Starting treatment with STELARA helped me to take control of my disease and start to create new memories with my family and friends, said Whitney. With clearer skin, I was able to walk down the aisle in a strapless wedding dress, and it was amazing!

Eventually, Whitney would also be diagnosed with psoriatic arthritis, an inflammatory arthritis causing joint pain, stiffness and swelling that affects approximately 30 percent of people with psoriasis.2 STELARA (ustekinumab) also is approved to treat psoriatic arthritis and, over time, Whitneys joint pain and swelling have diminished significantly.

Visit http://www.STELARAINFO.com to learn more about STELARA

WHAT IS STELARA?

STELARA is a prescription medicine approved to treat adults 18 years and older with moderate or severe plaque psoriasis that involves large areas or many areas of their body, who may benefit from taking injections or pills (systemic therapy) or phototherapy (treatment using ultraviolet light alone or with pills).

STELARA is a prescription medicine approved to treat adults 18 years and older with active psoriatic arthritis, either alone or with methotrexate.

STELARA (ustekinumab) works by targeting an underlying cause of plaque psoriasis and psoriatic arthritis an overactive immune system. It blocks two proteins called IL-12 and IL-23 that may play a role in plaque psoriasis and psoriatic arthritis.

IMPORTANT SAFETY INFORMATION

STELARA (ustekinumab) is a prescription medicine that affects your immune system. STELARA can increase your chance of having serious side effects including:

Serious Infections

STELARA may lower your ability to fight infections and may increase your risk of infections. While taking STELARA, some people have serious infections, which may require hospitalization, including tuberculosis (TB), and infections caused by bacteria, fungi, or viruses.

Your doctor should check you for TB before starting STELARA and watch you closely for signs and symptoms of TB during treatment with STELARA.

If your doctor feels that you are at risk for TB, you may be treated for TB before and during treatment with STELARA.

You should not start taking STELARA if you have any kind of infection unless your doctor says it is okay.

Before starting STELARA, tell your doctor if you:

think you have an infection or have symptoms of an infection such as:

After starting STELARA, call your doctor right away if you have any symptoms of an infection (see above).

STELARA can make you more likely to get infections or make an infection that you have worse. People who have a genetic problem where the body does not make any of the proteins interleukin 12 (IL-12) and interleukin 23 (IL-23) are at a higher risk for certain serious infections that can spread throughout the body and cause death. People who take STELARA may also be more likely to get these infections.

Cancers

STELARA may decrease the activity of your immune system and increase your risk for certain types of cancer. Tell your doctor if you have ever had any type of cancer. Some people who had risk factors for skin cancer developed certain types of skin cancers while receiving STELARA. Tell your doctor if you have any new skin growths.

Reversible posterior leukoencephalopathy syndrome (RPLS)

RPLS is a rare condition that affects the brain and can cause death. The cause of RPLS is not known. If RPLS is found early and treated, most people recover. Tell your doctor right away if you have any new or worsening medical problems including: headache, seizures, confusion, and vision problems.

Serious Allergic Reactions

Serious allergic reactions can occur. Stop using STELARA and get medical help right away if you have any symptoms such as: feeling faint, swelling of your face, eyelids, tongue, or throat, chest tightness, or skin rash.

Before receiving STELARA, tell your doctor if you:

have any of the conditions or symptoms listed above for serious infections, cancers, or RPLS.

ever had an allergic reaction to STELARA or any of its ingredients. Ask your doctor if you are not sure.

are allergic to latex. The needle cover on the prefilled syringe contains latex.

have recently received or are scheduled to receive an immunization (vaccine). People who take STELARA should not receive live vaccines. Tell your doctor if anyone in your house needs a vaccine. The viruses used in some types of vaccines can spread to people with a weakened immune system, and can cause serious problems. You should not receive the BCG vaccine during the one year before taking STELARA or one year after you stop taking STELARA.

have any new or changing lesions within psoriasis areas or on normal skin.

are receiving or have received allergy shots, especially for serious allergic reactions.

receive or have received phototherapy for your psoriasis.

have any other medical conditions.

are pregnant or plan to become pregnant. It is not known if STELARA will harm your unborn baby. You and your doctor should decide if you will take STELARA.

are breast-feeding or plan to breast-feed. It is thought that STELARA passes into your breast milk. Talk to your doctor about the best way to feed your baby if you take STELARA.

Tell your doctor about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements. Know the medicines you take. Keep a list of them to show your doctor and pharmacist when you get a new medicine.

When prescribed STELARA:

Use STELARA exactly as prescribed by your doctor.

If your doctor decides that you or a caregiver may give your injections of STELARA at home, you should receive training on the right way to prepare and inject STELARA. Do not try to inject STELARA yourself until you or your caregiver has been shown how to inject STELARA by your doctor or nurse.

Common side effects of STELARA include: upper respiratory infections, headache, and tiredness in psoriasis patients; joint pain and nausea in psoriatic arthritis patients; and upper respiratory infections, redness at the injection site, vaginal yeast infections, itching, urinary tract infections, and vomiting in Crohns disease patients. These are not all of the possible side effects with STELARA. Tell your doctor about any side effect that you experience. Ask your doctor or pharmacist for more information.

Please read the full Prescribing Information and Medication Guide for STELARA and discuss any questions you have with your doctor.

You are encouraged to report negative side effects of prescription drugs to the FDA.

Visit http://www.fda.gov/medwatch or call 1-800-FDA-1088.

061408-161010

References

1. About the National Psoriasis Foundation. (n.d.) https://www.psoriasis.org/about-us. Accessed July 24, 2016.

2. National Psoriasis Foundation. About Psoriatic Arthritis. https://www.psoriasis.org/psoriatic-arthritis. Accessed November 3, 2016.

(c) Janssen Biotech, Inc. 2016 11/16 057315-160728

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My Life with Plaque Psoriasis and How I'm taking Control - Tucson Local Media

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Little girl, 9, lives in agony as psoriasis leaves her covered in flaky … – The Sun

Posted: at 2:47 pm

The condition is causing her such unbearable irritation she is unable do things most girls her age can do, like have fun playing with her friends

A NINE-year-old girl is so tortured by a condition that causes her skin to form scales and flake off she cant even play with her friends.

Ranee Boornrung, from the Yala province in the south of Thailand, has suffered from psoriasis for two years.

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Psoriasis is a skin condition that causes red, flaky, crusty patches of skin covered with silvery scales.

It can start at any age, but is more common in adults under 35.

The patches on the skin normally appear on elbows, knees, scalp and lower back, but can spread to other parts of the body.

In most cases they only affect small patches of skin but in more severe cases, like Ranees, it can have a severe impact on the suffers quality of life.

Ranee has sore, flaky patches all over her body, including her face.

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The condition is causing her such unbearable irritation she is unable do things most girls her age can do, like have fun playing with her friends.

When she was first diagnosed, she received treatment at Trangs Institute of Dermatology but it was ineffective.

A similar result followed treatment at the hospital in nearby Had Yai.

Desperate to find relief for their daughter, Ranees parents put her on a two-month treatment programme at Had Yai Univesity but, again, they had little success.

Now they have heard of a new three-month treatment in the Buriram province in Thailand and are hoping that will rid their daughter of the condition.

Her mother said: Weve now heard of a doctor in Buriram who might be able to help stop the sickness progressing but the treatment will take three months.

Were poor and the cost of travel and treatment is very expensive so were hoping an appeal on the internet might help our daughter get better.

Exclusivepix Media

Psoriasis is a skin condition that causes red, flaky, crusty patches of skin covered with silvery scales.

These patches normally appear on your elbows, knees, scalp and lower back, but can appear anywhere on your body.

Most people are only affected with small patches. In some cases, the patches can be itchy or sore.

It affects around two per cent of the UK population.

Why does it happen?

People with psoriasis have anincreased production of skin cells.

Skin cells are normallymade and replaced every three to four weeks, but in psoriasis this process only lasts about three to seven days.

The resulting build-up of skin cells is what creates the patches associated with psoriasis.

It is thought to be a problem with the immune system and can run in families.

How is it treated?

Theres no cure for psoriasis, but a range of treatments can improve symptoms and the appearance of skin patches.

n most cases, the first treatment used will be a topical treatment, such as vitamin D analogues or topical corticosteroids.

Topical treatments are creams and ointments applied to the skin.

If these arent effective, or your condition is more severe, a treatment called phototherapy may be used.

Phototherapy involves exposing your skin to certain types of ultraviolet light.

In severe cases, where the above treatments are ineffective, systemic treatments may be used. These are oral or injected medicines that work throughout the whole body.

Source: NHS

The condition affects around two per cent of the UKs populationand hasgained widespread media attention lately after Kim Kardashian admitted to suffering from it.

Although in most cases psoriasis is a minor irritation, it can have a significant impact on quality of life for those who suffer severely wit the condition.

Some sufferers have low self-esteem or could develop tenderness, pain and swelling in the joints.

These symptoms prompted a man, named Ryan, to appear on Channel5s GPs Behind Closed Doors, desperately trying to find a treatment that eases his problem.

His psoriasis is so severe his face is red raw and flaky and the skin on his leg has been reduced to powder.

The condition has also caused himarthritis, and both problems cause him pain and discomfort on a daily basis.

It is best to speak to a GP about the effects of the condition and any concerns you may have.

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Beating Psoriasis at home | SunStar – Sun.Star

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Beating Psoriasis at home | SunStar
Sun.Star
Good day to you and to your followers. I am writing because I have psoriasis. Urggh! I have already been treated. But somehow, this will erupt some of the times which had left me devastated and depressed. Are there home treatments that I can do without ...

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

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

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

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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 .

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Gene that protects against inflammatory bowel disease identified – Science Daily

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UT Southwestern Medical Center researchers have identified a gene that protects the gut from inflammatory bowel disease (IBD).

The mouse study found a mutation in the Gatm gene and used CRISPR/Cas9 gene-editing technology to confirm this link. The Gatm gene is required for the rapid replenishment of the intestinal mucosal barrier that guards the intestinal wall against inflammation caused by bacteria in the digestive tract, researchers determined.

"The Gatm gene is needed for the synthesis of creatine, a substance made in the liver that travels to the barrier cells and allows them to utilize energy in an efficient manner," said Nobel Laureate Dr. Bruce Beutler, Director of UT Southwestern's Center for the Genetics of Host Defense and senior author of the study, which was published this week in the Proceedings of the National Academy of Sciences.

IBD involves a chronic or recurring immune response and inflammation of the gastrointestinal tract. The two most common inflammatory bowel diseases are ulcerative colitis and Crohn's disease, according to the Centers for Disease Control and Prevention. Although ulcerative colitis is limited to the large intestine, Crohn's disease can affect any part of the digestive tract.

Under normal conditions, the body maintains a balance between the intestinal tract's ability to respond to disease-causing bacteria and tolerance of normal commensal "good" bacteria that aid digestion.

To understand the mucosal barrier, researchers said, the intestines can be compared to a battlefield during a lull in fighting. Normally, mucus lines the intestines and forms a barrier that is similar to a demilitarized zone. That mucus barrier protects the intestinal walls from both the disease-causing and beneficial bacteria. However, if the bacteria somehow get through that mucus layer and reach the intestinal walls, inflammation is the result, explained lead author Dr. Emre Turer, Assistant Professor of Internal Medicine and in the Center for the Genetics of Host Defense.

In their experiments, mice with two copies of the recessive Gatm mutation showed symptoms similar to people with IBD: diarrhea, weight loss, and the death of cells lining the intestine. Those symptoms improved when the mice received creatine in their drinking water, the researchers said. The study indicates that creatine is necessary for providing the energy needed for the rapid replenishment of the mucosal barrier.

"Mutations in this gene and others needed for mobilization of energy in cells may account for some cases of IBD in humans," said Dr. Beutler, also Professor of Immunology.

The study identified several other potential colitis genes, he added, and this particular one's effect on the barrier cells' energy requirements suggests a new category of mutations with the potential to cause IBD. Each gene was found by random germline mutagenesis, meaning mutations were created in order to study resulting traits.

"IBD is a chronic, relapsing, remitting disease in which evidence of healing in the lining of the digestive tract is critical for long-term remission. Current therapy tends to focus on reducing the inflammatory response," Dr. Beutler said. "However, proper healing of the mucosal layer and cells that line the digestive tract is essential to long-term remission. This study indicates that healing requires effective energy metabolism."

Further, he added, "knowing these genes may help us to understand how IBD occurs in humans, and how to treat it." Earlier in his career, Dr. Beutler discovered an important family of receptors that allow mammals to sense infections when they occur, triggering a powerful inflammatory response. For that work he received the 2011 Nobel Prize in Physiology or Medicine. He now runs one of the world's largest mouse mutagenesis and forward genetics programs.

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Materials provided by UT Southwestern Medical Center. Note: Content may be edited for style and length.

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Genetic test to predict opioid risk lacks proof, experts say – Philly.com

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It sounds like a godsend for America's opioid epidemic: genetic tests that can predict how a patient will respond to narcotic painkillers, as well as an individual's risk of misuse, addiction, and potentially deadly side effects.

Proove Biosciences of Irvine, Calif., claims its "opioid response" and "opioid risk" tests are the only precision medicine tools on the market to do all that, giving doctors information "to guide opioid selection and dosage decisions as well as treat side effects."

But while the concept is captivating, addiction researchers say it is not yet possible to use genetic variation to gauge the risk of drug abuse. And ECRI Institute, a Plymouth Meeting nonprofit center that evaluates medical technology, says Proove has not published independently reviewed studies to support its claims.

"We cant say it doesnt work. All we can say is, theres no evidence it does," said ECRI research analyst Jeff Oristaglio.

In an interview, Proove CEO Brian Meshkin defended his five-year-old products, which he said retail for $1,000 a test and were used by about 400 doctors last year in treating 50,000 patients. He said he expects scientific journals to publish results from studies "within the next six months." Three clinical trials of the opioid response test are ongoing.

Consumers may assume that such high-tech genetic tests have to demonstrate safety and effectiveness to win regulatory approval, but they do not. Even though these complex diagnostics use the latest gene-sequencing and data-crunching techniques, they can come to market under 1988 federal regulations designed to ensure the quality of clinical laboratories.

Two years ago, the U.S. Food and Drug Administration proposed a new framework for overseeing "lab-developed tests" that would take into account their complexity and riskiness, because inaccurate or false results can harm patients. But the agency withdrew the controversial proposal after the November election, saying it needed "to continue to work with stakeholders, our new administration, and Congress."

Proove is one of many companies in the fast-growing genetic-susceptibility testing market, a multi-billion industry built on trying to foresee and thus, forestall disease, disability, and death.

Opioid-related deaths have become an urgent public-health crisis. Every day, on average, 3,900 people start abusing prescription painkillers, 580 graduate to cheaper heroin, and 78 die of a narcotic overdose, according to federal data.

In theory, genetics provides an opportunity to reduce this toll. Researchers have linked a predisposition to opioid dependency to gene variants involved in the brain's signaling of reward and pleasure. Addictive behavior, particularly alcohol abuse, is known to run in families.

But addiction experts say risky behavior involves the largely unpredictable interplay of environmental, cultural, and biological factors.

"It is hard to conceive of a genetic test or a genetic score that would be valuable as a predictor of opiate abuse or addiction in general," said Michael Vanyukov, a University of Pittsburgh professor of pharmaceutical sciences, psychiatry and human genetics.

Vanyukov, who wasn't familiar with Proove's products, said heredity plays a relatively small role in determining variation in addiction risk, while choices and perceptions can play a big role. "If the individual is informed of, say, a 'low' risk score, this very piece of information will change the risk. The error of a genetic score is likely to be great, and reliance on it in practice may be dangerous."

Psychiatrist Charles OBrien, founding director of the University of Pennsylvania's Center for Studies of Addiction, was also unfamiliar with Proove's test, but echoed that sentiment: "I could not in good conscience recommend that someone spend money on these tests."

O'Brien's own center recently identified gene variants associated with response to naltrexone, a drug that blocks the intoxicating effects of alcohol. But when the center studied alcoholics on naltrexone, strong and weak responders had the same number of heavy drinking days.

"We were very disappointed because we're all looking for precision medicine," O'Brien said.

Proove's tests analyze DNA from a cheek swab. The opioid risk test gives the patient a score low, moderate, or high risk of opioid abuse that is based on detecting variants in 12 genes, combined with clinical information such as a history of depression. The company's website claims the algorithm is 93 percent accurate.

But when ECRI scientists looked to validate that claim, all they could find were brief summaries of two studies that the company presented at medical conferences. One studyof 290 patients compared the Proove risk test with the "opioid risk tool," a standard, one-minute screening questionnaire that doctors use to ask chronic pain patients about risk factors such as a history of mental illness or substance abuse.

"We cannot determine ... whether the test performs better or worse than the opioid risk tool in predicting opioid misuse," ECRI concluded.

Insurance plans either consider Proove's tests unnecessary or have no specific policies, ECRI found, although Meshkin said insurers are covering the cost "on a case-by-case basis."

"At some point, you've got to stop and produce the evidence if you want people to pay," said Diane Robertson, director of ECRI's health technology assessment service. "Why would anyone want to use something if there is no evidence that it has benefit?"

Published: February 6, 2017 10:09 AM EST The Philadelphia Inquirer

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

Posted: at 2:46 pm

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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CBS’s ‘Training Day’ Features a Politically Incorrect Cop Liberals Will Hate – NewsBusters (blog)

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CBS's 'Training Day' Features a Politically Incorrect Cop Liberals Will Hate
NewsBusters (blog)
CBS's new police drama, Training Day, debuted Thursday night with the episode titled Apocalypse Now. Based on the 2001 movie with the same name and using the movie's director (Antoine Fuqua) as a producer, the show diverges with its portrayal of a ...

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