Archive for March, 2017

Thuy Truong thought her aching back was just a pulled muscle from working out. But then came a high fever that wouldn't go away during a visit to Vietnam. When a friend insisted Truong, 30, go to an emergency room, doctors told her the last thing she expected to hear: She had lung cancer. Back in Los Angeles, Truong learned the cancer was at stage 4 and she had about eight months to live.

"My whole world was flipped upside down," says Truong, who had been splitting her time between the San Francisco Bay Area and Asia for a new project after selling her startup. "I've been a successful entrepreneur, but I'm not married. I don't have kids yet. [The diagnosis] was devastating."

Doctors at the University of Southern California took a blood sample for genetic testing. The "liquid biopsy" was able to detect tumor cells in her blood, sparing her the risky procedure of collecting cells in her lungs.

Genetic sequencing allowed the lab to isolate the mutation that caused her cancer to produce too much of the EGFR (epidermal growth factor receptor) protein, triggering cancer cells to grow and proliferate. Fortunately, her type of mutation responds to EGFR-targeting drugs, such as Tarceva or Iressa, slowing tumor growth.

Personalized medicine uses genetic information to design treatments targeted to individual patients.

Unlike chemotherapy, which blasts all fast-growing cells in its wake, targeted treatments go after specific molecules. That makes them more effective at fighting particular types of cancers, including breast, colorectal and lung cancers. Now the approach is being expanded to fight an even broader range of cancers. It's all part of a new wave in health care called personalized, or precision, medicine.

"This is the future of medicine," says Dr. Massimo Cristofanilli, associate director for translational research and precision medicine at Northwestern University. "There is no turning back. The technology is available and there are already so many targeted therapies."

Most medical treatments have been designed for the average patient, leading to a one-size-fits-all approach. But with vast amounts of data at their disposal, researchers now can analyze information about our genes, our family histories and other health conditions to better understand which types of treatments work best for which segments of the population.

This is a big deal. But it requires the know-how of geneticists, biologists, experts in artificial intelligence and computer scientists who understand big-data analytics. Several startups have already begun this work.

Deep Genomics, founded by researchers at the University of Toronto, uses AI to predict how genetic mutations will change our cells and the impact those changes will have on the human body. Epinomics, co-founded by scientists and physicians from Stanford University, is building a map of what turns our genes on and off, giving physicians a guide they could use to craft personalized therapies. And Vitagene, a small San Francisco startup, provides personalized advice on nutrition and wellness based on your DNA.

Dr. Massimo Cristofanilli

Just like Facebook learns to automatically recognize Aunt Martha in your family photos, Deep Genomics finds and categorizes patterns in genetic data. Once it's found those patterns, the company's deep learning system can infer if and how changes to your DNA affect your body.

That's a big step forward compared with current genetic tests. Most can only give a probability of, say, getting breast cancer based on data from an entire population. Other tests can't even tell you if the genetic changes they've detected mean anything.

The work is personal for Brendan Frey, CEO and co-founder of Deep Genomics and a professor at the University of Toronto. Fourteen years ago, he and his wife discovered their unborn baby had a genetic condition.

"We knew there was a genetic problem, but our counselor couldn't tell us if it was serious or if it was going to turn out to be nothing," Frey says. "We were plunged into this very difficult, emotional situation."

The experience made Frey want to bridge the divide between identifying genetic anomalies and understanding what they mean.

Deep learning or machine learning -- when computers teach themselves as they see more data -- can also help doctors know which drugs will most effectively treat a patient's illness and whether that person is more likely to experience side effects.

It can also help predict how cancer cells will mutate. And that can help drug companies come up with new treatments as tumor cells change and patients no longer respond to the drugs that worked.

That could help turn a disease like cancer into a manageable chronic ailment, says Cristofanilli.

Where Deep Genomics analyzes patterns in genetic data to predict when mutations will make you sick, Epinomics looks at epigenomics, or the study of what turns our genes on and off.

The company describes it like this: If your genome, which shows what genes we have, is the hardware of our bodies, then the epigenome is its software programming. Epinomics aims to decode that programming.

Every cell in the body carries the same genetic code. But cells in the heart, brain, bone and skin function differently based on this programming. It happens because chemical markers attach to DNA to activate or silence genes. These markers, known as the epigenome, vary from one cell type to another and are affected by both nature (inheritance) and nurture, which can include the air we breathe and the food we eat.

Researchers think a disruption to the epigenome can cause illnesses such as Alzheimer's disease, diabetes or cancer. Understanding it could give physicians a guide to the best options for each patient, like having a GPS for treatments at the molecular level.

"We are focusing on what is happening at the programming level of each cell," says Epinomics co-founder Fergus Chan. "Once we understand how genes are being turned on and off, we'll be able to better predict which treatments will work or whether changes to lifestyle will have an impact on health."

When Vitagene co-founder and CEO Mehdi Maghsoodnia asked a doctor what vitamins he should be taking, he was handed a bottle of pills and told to hope for the best.

Fergus Chan

That was the beginning of Vitagene, which uses genetic data and other health information culled from a detailed questionnaire to deliver a personalized nutritional supplement plan that lists which vitamins you need and in what doses, as well as what to avoid.

Maghsoodnia offers an alternative to the one-size-fits-all $27 billion US dietary supplement industry. Customers pay $99 to have their DNA tested and blood analyzed. And for $69 a month, Vitagene will package and ship supplements in dosages tailored to your individual needs.

The Food and Drug Administration estimates there are more than 85,000 dietary supplements on the US market, most of which are unregulated. Nearly all are "promising everything from anti-aging to weight loss, and no science behind it to tell you what works for you," says Maghsoodnia. "We help filter through the noise."

Vitagene's algorithm has been tested on patients who've had bariatric surgery for weight loss, which often leaves them deprived of key nutrients. Vitagene helped develop a supplement regimen to get these patients the nutrition they need after surgery.

Precision medicine is in its early days.

This is especially true for psychiatry and its exploration of how the brain responds to the environment, stress and genetic disorders. Now several companies are selling tests to help psychiatrists select drug treatments by looking at patients' DNA mutations and their metabolizing rate.

See more from CNET Magazine.

But critics caution that these genetic tests may be overselling their capabilities.

"Precision medicine has been very promising in oncology," says Jose de Leon, a professor of psychiatry at the University of Kentucky who specializes in psychopharmacology. "But we know a lot more about cancer and how it works. In psychiatry, it's much harder because we don't know enough about how the brain works."

Yes, precision medicine holds enormous promise.

Even so, Northwestern's Cristofanilli cautions clinicians to stay grounded in reality. "It can be difficult to understand where reality becomes imagination," he says. "We want to make sure we are protecting patients from claims that we may not deliver."

For her part, Truong is grateful to benefit from the work that's already been done. "I'm an engineer," she says.

"I don't believe in miracles. I believe in science."

This story appears in the spring 2017 edition of CNET Magazine. For other magazine stories, click here.

Batteries Not Included: The CNET team reminds us why tech stuff is cool.

Life, disrupted: In Europe, millions of refugees are still searching for a safe place to settle. Tech should be part of the solution. But is it? CNET investigates.

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Gene therapy: What personalized medicine means for you - CNET - CNET

President Trump's behavior has medical professionals, including Deepak Chopra, concerned about his mental health. USA TODAY

Deepak Chopra tweeted that President Donald Trump should be tested for psychiatric and neurological disorders.(Photo: Alberto E. Rodriguez, Getty Images)

Does the nation need to know more about President Trumps brain?

Alternative medicine promotor Deepak Chopra is the latest medical professional to suggest we do.In a series of tweets late Monday theday FBI director James Comey shot down the presidents unfounded but continuing claims about wiretapping at Trump Tower Chopra asked Trumpto please submit to a psychiatric and neurological evaluation to restore our confidence.

Chopra, who trained as an endocrinologist (a hormone specialist), not a psychiatrist or neurologist, also suggested that a form of dementia, a brain disease that affects behavior and thinking, should be ruled in or ruled out, for the safety of the world.

For the record, Trumps longtime personal physician Harold Bornstein recently told the health news site Statthat while Trump carries some extra pounds, theres nothing seriously wrong with him. In two letters issued during the campaign, Bornstein also said Trump, 70, was in fine physical health. Bornstein also told The New York Times he probably would not screen Trump for dementia if he became White House physician (so far, he has not).

That has not stopped speculation, especially about Trumps mental health. Suchspeculation, at least by psychiatrists, has been officially discouraged by the American Psychiatric Association (APA). Earlier this month, the group updated its longstanding ethics policy against opiningonthe mental health of politicians or other public figures. The policy is called the Goldwater Rule, after 1964 presidential candidate Barry Goldwater, and was created after manypsychiatrists participated in a magazine survey about Goldwaters mentalfitness.

The rule is based partly on the belief that psychiatrists should not diagnose unconsenting people they have not examined. But it also reflects concerns that equating mental healthwith fitness for certain jobs stigmatizes people with mental illness, said Rebecca Weintraub Brendel, an assistant professor of psychiatry at Harvard Medical School and consultant to the APAs ethics committee.

The public doesnt really need psychiatrists to reach conclusions, about whether politicians should stay in office, she added.

Despite the policy, 35 psychiatrists, psychologists and social workers signed a letter to the Timesin February saying Trumps speech and actions demonstrate an inability to tolerate views different from his own, leading to rage reactions. They said this grave emotional instability made him incapable of serving safely as president. The letter did not suggest any diagnosis for Trump.

In a separate letter to the Times, Allen Frances, apsychiatry professor emeritusat Duke University School of Medicine, took a different view. He wrote that Trump may be a world-class narcissist, but this doesnt make him mentally ill. Francis said that associating Trump's behavior with mental illness is a stigmatizing insult to the mentally ill.

As to whether Trump should undergo the kind of testing Chopra suggests, some experts think all modern presidents should. Arthur Caplan, a bioethicist at New York University's Langone Medical Center, told NPR: "I think we're about 50 years overdue for having some sort of annual physical for the president and vice president, the results of which should be reported publicly. Part of this should be psychiatric and cognitive testing."

But thats different from suggesting that public concerns generated by a presidents TV appearances and social media posts should trigger psychiatric testing, Weintraub Brendel said. That, she said, would be a political misuse of psychiatry.

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Deepak Chopra speculates about Trump's brain - USA TODAY

Dr. Art Mollen, Special for The Republic | azcentral.com 5:04 a.m. MT March 21, 2017

Dr. Art Mollen started tje 3TV Phoenix 10K and Half Marathon 40 years ago. In 2011 he created the Arizona Runners Hall of Fame to honor individuals who have made significant contributions to running in Arizona.(Photo: Richard Buchbinder)

Many people are looking for the silver bullet to weight loss.In fact, for some people, it may be a good idea. However, most doctors only prescribe themif your body mass index is above 30 or at least 27 and you also have diabetes or high blood pressure.

The most common prescription weight loss drugs include Orlistat, Contrave, Belviq, Saxenda and Qsymia. In the past the most common prescription weight loss drugs were amphetamines, which had the potential for addiction and abuse.

The most important consideration before taking medications for weight loss is to evaluate your medical history for high blood pressure, diabetes, heart disease and a compromised immune system, all of which could be affected. Even natural or herbal weight loss products can cause significant problems.

Orlistat also called Xenical, blocks your body from absorbing the fat that you consume and may cause side effects, including abdominal cramping and excess gas.

Contrave is a combination of naltrexone and wellbutrin. Naltrexone is also approved to treat alcohol and drug dependence. Wellbutrin is also approved to treat depression. Contrave works on the brains thermostat, which controls appetite, temperature and how the body burns energy signaling the brain to reduce food intake.

Belviq works by suppressing your appetite. However, some common side effects, include headaches, dizziness, nausea and fatigue.

Saxenda is the same drug as Victoza used to treat diabetes. It helps diabetics by mimicking a hormone in the intestines and tells the brain that the stomach is full. The side effects include nausea, vomiting and diarrhea.

Phentermine is an amphetamine and combined with Topamax, an anticonvulsant drug in a medication called Qysmia. It makes you feel full, suppresses appetite and speeds metabolism, however, it can raise blood pressure, cause heart palpitations and insomnia. It is a controlled substance and potentially addictive.

All of these medications have a caveat which is, if you do not lose at least 5 percentof your body weight after 12 weeks of taking it, you should discontinue the medication.

These weight loss drugs must be monitored by a physician and are indicated to be taken in conjunction with exercise and fewer calories.If the medication galvanizes you to exercise and eat differently, that may be a good idea.

A recent study in the Journal of the American Medical Association pointed out that the best prescription weight loss drug is the one that works for you.Qsymia and Contrave were able to create about a 5 percentloss of body weight, which is 11-12 pounds and is considered to be the most effective.

There is no one size fits all when it comes to weight loss drugs as some people will simply respond to one drug better than another.At the end of the day there is no silver bullet to weight loss simply exercise, diet changes and lifestyle.

One last note as a practicing physician, I seldom prescribe these medications for my patients, not because they are ineffective, but because they are the antithesis of my personal philosophy for long-term weight control.

Dr. Art Mollen is an osteopathic family physician and a health, fitness and preventive medicine expert. Reach him at 480-656-0016 or askdrartmollen@gmail.com.

Dr. Art Mollen: All you need is love with a little bit of chocolate

Dr. Art Mollen: Peanut allergic reactions are serious

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Dr. Art Mollen: Finding a silver bullet for weight loss - AZCentral.com

March 20, 2017 6:30 PM

PITTSBURGH(CBS) It is the one thing that none of us can stop. Time marches on, even if our bodies dont quite keep up.

You know when youre not as alert, not as focused, not concentrating like you used to be, Paul Kozlicki, an former toy company executive who lives in Minnesota, said.

In his mid-60s, Kozlicki said he and his wife felt that clock ticking.

I wasnt as active, getting lazy, a little less productivity. Not getting things done, Kozlicki said.

For many men, its just part of getting older. Some doctors call it andropause or male menopause. With a woman, its clear when menopause begins. For men, its less clear. Its generally thought to be when testosterone levels gradually drop.

Isnt this just part of getting older?

It could be. But if theres a solution out there, why wouldnt you want to find it? Kozlicki said.

Dr. Mark Erhard is a cardiologist. He and his wife run a clinic in Wayzata specializing in bio-identical hormone replacement, treating men with what they consider to be abnormally low testosterone.

This is so under-diagnosed, Dr. Mark Erhard said, pointing to research suggesting that two in five men in their 60s have low testosterone.

Dr. Lisa Erhard is an OB/GYN who was doing hormone replacement on menopausal women. She said women would then ask her if she could do anything to help their husbands, who had become grumpier old men.

To have a patient come back and say, I feel like myself again, thats wonderful, she said.

Theres no debate that as men turn 40, testosterone levels start to fall. The question is whether lower levels of testosterone affect things other than sexual desire and activity.

Drug companies like the makers of AndroGel and Axiron argue that testosterone can solve a lot of problems. Perhaps youve seen commercials for topical sprays or gels to fight Low T.

Kozlickis search for answers led him to the Erhards Wayzata clinic. He was given a male hormone health questionnaire with 30 questions, including: Is sex less satisfying? Are you easily annoyed? Is your thinking not as sharp?

Patients with enough yes answers are given blood tests, and Kozlicki tested with what Mark Erhard considered to be a low level of testosterone.

Below the range I should be in for my age group, Kozlicki said, characterizing his level.

Kozlicki had six of tiny bio-identical testosterone pellets implanted beneath the skin near his behind, which he said he didnt feel at all. But he felt the results within a week.

It changes their lives, Mark Erhard said. Ive warned some guys. Are you ready for the change? Youll have energy youve not felt in 25 years. Youll see life differently.

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Kozlicki said his quality of life was good before testosterone therapy and great after.

I literally had a great night sleep. Im jumping out of bed in the morning, he said.

Test results confirmed the pellets had more than tripled his testosterone levels.

But testosterone therapy is relatively new, and the data on whether it works on more than just low libido is mixed. The possible upside is big for men looking to keep their edge, maybe even a larger upside financially for drug makers.

This is an area of interest, absolutely. Its a huge question, Dr. Bruce Redmon, an endocrinologist at the University of Minnesota who specializes in male reproductive and sexual function, said. I think a lot of the better science would question how many of those benefits are real.

The University of Minnesota is part of a large new study just published in the New England Journal of Medicine. 50,000men older than 65 were screened for low testosterone, but only 800 tested low enough to be included.

Of the 700 who completed the year in the study, the half put on testosterone gels had better sexual desire and activity, they reported walking more strongly too.

Men who received testosterone reported better sexual function, including activity, desire, and erectile function, than those who received placebo, researchers said.

But testosterone did not improve focus, change sleep, or lead to walking longer distances.

However, testosterone was associated with small but significant benefits with respect to mood and depressive symptoms. Men in the testosterone group were also more likely than those in the placebo group to report that their energy was better, researchers reported.

Because only men older than 65 were tested, and for just one year, researchers recommended larger and longer trials. The only large study so far is from the Kansas City VA Medical Center, looking at medical records of tens of thousands of veterans. It found a strong relationship between treating low testosterone and a significant reduction in all-cause mortality, [heart attack], and stroke.

Which begs the question: Why are people so happy with their results after paying for treatment?

There may be a placebo effect in some cases, Redmon said.

On the other hand, Mark Erhard says he sees the results in his patients.

You optimize a testosterone level, you dont see a placebo. Thats why more than 90 percent who start this therapy stay with this therapy, he said.

Kozlicki says he, without a doubt, is a believer. He says taking testosterone pellets has turned back the clock.

I used to walk one mile a day, now Im walking six. I found myself more active, more alert, focused. And just getting more things done, he said. It works. I feel like Im 30. Everything improved. My whole life improved dramatically.

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Doctors Say Some May Be Suffering From 'Male Menopause' - CBS Pittsburgh / KDKA

Three former BachelorcontestantsKaitlyn Bristowe, Carly Waddell, and Andi Dorfmanreunited in Chicago last week to promote boutique egg-freezing clinic Ova, where pal (and Bachelor winner)Whitney Bischoff works as a nurse.Waddell froze her eggs one year ago at Ova, and Bristoweis going through the process now.

Both women have talked about their experience on social media, and the sense of relief it has brought. In a post on Instagram,Waddell called egg-freezing "the best backup plan."And BachelorettestarBristowe wrote on Twitter that it has put her mind at ease: "I'm taking control of my future!"

But the decision to freeze your eggsisn'tas simple as it mightseem. To learn more, we spoke withBrooke Hodes-Wertz, MD,assistant professor of obstetrics and gynecology at NYU Langone Medical Center. She walked us through some of the common misconceptions about the procedure, and what women need to know before they call a fertility clinic.

It'sactually best to freeze your eggs before you turn 35, says Dr. Hodes-Wertz. Fertility rates gradually decline as we get older, she explains, so you have a higher chance of success if you freeze your eggs at a younger age.Some women in their 20sarent really thinking about when they want to have kids, so it tends to be most beneficial for women in their early 30s," she says."Maybe they havent settled down yet, but theyre thinking about it and their eggs are still good.

This is one of the biggest myths about egg freezing."Its not as easy or straightforward as people make it out to be, says Dr. Hodes-Wertz. "It's very time consuming."

First, youll meet with a physician to go over your medical history. You'll also geta blood test and abaseline ultrasound. You may need to go off birth control a month before the process begins.

Then you will give yourself hormone injectionstwo to three times a day. At least every other day, you'll return to your doctor's office for more ultrasounds. After about two weeks, depending on your body's response to the hormones, you will undergothe egg retrieval process. While you're sedated, your doctor will insert a long needle into yourvagina to pull out the eggs.

At Dr. Hodes-Wertz's clinic, about 20% of patients end up doing a second round of egg retrieval, since a greater number of eggs raises the chances of getting pregnant.

RELATED: 9 Things Every Woman Must Know About Her Fertility

The week after can be really uncomfortable, says Dr. Hodes-Wertz. The ovaries are very swollen, and you can feel really bloated and full. Most doctors recommend avoiding exercise during this time,she adds, sincethe swollen ovaries cantwist and cutoff their own blood supply.

Its not typical for most insurance providers to cover any part of egg freezing. And it can be pretty expensive. Dr. Hodes-Wertz says to expect a bill somewhere between $9,000 and $15,000 for the injectionsand procedure, plusabout $1,000 per year to keep the eggs frozen. Some centers do this exclusively and they offer much more economical rates, but its still expensive, she adds.

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At most clinics, about40% of procedures result in a live birth, says Dr. Hodes-Wertz.A lot of steps can go wrong,"she explains. "Not all the eggs are going to survive the thaw. Not all of them will be healthy eggs, take fertilization, or grow in culture.

And not all clinics are created equal. Dr. Hodes-Wertz encourages women to research a clinic'ssuccess ratebefore they move forward with the procedure.Some clinics are more experienced than others, and you want to make sure you pick a place that has a lot of experience with thawing [eggs]out, she says.

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5 Myths About Egg Freezing - Health.com

March 21, 2017 by From Mayo Clinic News Network, Mayo Clinic News Network

Dear Mayo Clinic: How is thyroid cancer treated? Does it always require taking out the thyroid? When is iodine treatment used, and how does that work?

A: Treatment for thyroid cancer usually involves removing all or part of the thyroid gland. In cases where thyroid cancer is advanced or aggressive, radioactive iodine treatment may be recommended after surgery to destroy any cancer cells that couldn't be removed during surgery. For very small papillary thyroid cancers (less than 1 centimeter in diameter and completely confined to the thyroid on ultrasound examination), it may be reasonable to avoid surgery and monitor them periodically without treatment. This is termed "surveillance" and requires annual imaging of the thyroid with high-quality ultrasound. These small thyroid cancers are low risk for progression, especially in persons over 60.

The thyroid is a butterfly-shaped gland located in the midline of your neck, about halfway between your Adam's apple and your breastbone. Your thyroid gland produces two main hormones: thyroxine, or T4, and triiodothyronine, or T3.

Thyroid hormones impact many cells within your body. They maintain the rate at which your body uses fats and carbohydrates, help control your body temperature, affect the working of your nervous system, and influence your heart rate. Your thyroid gland also produces calcitonin, a hormone that helps regulate the amount of calcium in your blood.

Thyroid cancer is not common in the U.S. When it is found, though, most cases can be cured. Surgery to remove all or most of the thyroid - a procedure called a thyroidectomy - is often the first step in treatment.

Thyroidectomy typically involves making an incision in the center of the neck to access the thyroid gland directly. In addition to removing the thyroid, the surgeon may remove lymph nodes near the thyroid gland if the cancer is known or suspected to be spreading outside the thyroid. Then, those lymph nodes will be checked for cancer cells. An ultrasound exam of the neck before surgery can help doctors determine if lymph node removal is necessary.

When thyroid cancer is found in its earliest stage, and the cancer is very small, it may only be necessary to remove one side, or lobe, of the thyroid, and leave the rest in place. In that situation, the thyroid still can function and produce hormones.

When the entire thyroid is removed, lifelong thyroid hormone therapy is required to replace the thyroid's natural hormones and regulate the body's metabolism. In addition to supplying the missing hormone the thyroid normally makes, this medication also suppresses the pituitary gland's production of thyroid-stimulating hormone, or TSH. That's useful, because there's a possibility that high TSH levels could foster the growth of any remaining cancer cells.

If thyroid cancer is found in its later stages, if it's a more aggressive form of cancer, or if it is cancer that has come back after earlier treatment, then radioactive iodine therapy may be recommended after the thyroid has been removed.

Radioactive iodine comes in a capsule or liquid that's swallowed. The therapy works because thyroid cells naturally absorb iodine. So when the medicine is taken up by any remaining thyroid cells or thyroid cancer, the radioactivity destroys those cells. Because the thyroid is the primary site where iodine is absorbed by the body, there's a low risk of harming other cells with this treatment. Afterward, the radioactive iodine leaves the body through urine.

If thyroid cancer is not cured with a combination of surgery and radioactive iodine therapy, then chemotherapy, external radiation therapy or other treatment may be necessary. Fortunately, surgery cures most cases of thyroid cancer, and the long-term outlook after the procedure is usually excellent.

Explore further: ATA guidelines available as pocket cards, mobile apps

2017 Mayo Foundation for Medical Education and Research Distributed by Tribune Content Agency, LLC.

(HealthDay)Two additional quick-reference tools, which offer guidance on management of various thyroid disorders, have been launched by the American Thyroid Association.

Thyroid problems are five to eight times more likely to impact women than men. However, Baylor College of Medicine's Dr. Ruchi Gaba cautions that any person, regardless of gender or age, can be affected by thyroid issues.

Dear Mayo Clinic: I have hypothyroidism and take medication for it. When researching online, I read that I should avoid kale and spinach. Is this true? I enjoy a kale or spinach smoothie almost daily and don't want to give ...

University of Pittsburgh School of Medicine scientists and doctors are embarking on the first-ever clinical trial to determine if a genetic test they pioneered could successfully spare patients with nonaggressive thyroid ...

Levels of thyroid hormone in babies influence insulin-secreting cells of the pancreas, according to a new study published in the Journal of Physiology.

The incidence of thyroid cancer has tripled in the past three decades, yet the reason for this is not clear. Dr. David Goldenberg, chief of otolaryngology and head and neck surgery at Penn State Health Milton S. Hershey Medical ...

Discovery of the BRCA genetic mutation in the mid-90s represented a breakthrough in breast and ovarian cancer prevention. About 5-10% of breast cancer cases and 10-18% of ovarian cancer cases can be attributed to two BRCA ...

Faced with the negative quality-of-life effects from surgery and radiation treatments for prostate cancer, low risk patients may instead want to consider active surveillance with their physician, according to a study released ...

A large, new study of adults with acute myeloid leukemia (AML) correlates 80 cancer-related gene mutations with five subtypes of AML, which are defined by the presence of specific chromosomal abnormalities. The findings might ...

Scientists identify two signaling proteins in cancer cells that make them resistant to chemotherapy, and show that blocking the proteins along with chemotherapy eliminate human leukemia in mouse models.

Genetic mutations that cause cancer also weaken cancer cells, creating an opportunity for researchers to develop drugs that will selectively kill them, while sparing normal cells. This concept is called "synthetic lethality" ...

Combining single-cell genomics and computational techniques, a research team including Paul Robson, Ph.D., director of single-cell biology at The Jackson Laboratory (JAX), has defined cell-type composition of cancerous cells ...

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Scientists at The University of Queensland have taken a significant step forward in cardiac disease research by creating a functional beating human heart muscle from stem cells.

Dr James Hudson and Dr Enzo Porrello from the UQ School of Biomedical Sciences collaborated with German researchers to create models of human heart tissue in the laboratory so they can study cardiac biology and diseases in a dish.

The patented technology enables us to now perform experiments on human heart tissue in the lab, Dr Hudson said.

This provides scientists with viable, functioning human heart muscle to work on, to model disease, screen new drugs and investigate heart repair.

The UQ Cardiac Regeneration Laboratory co-leaders have also extended this research and shown that the immature tissues have the capacity to regenerate following injury.

In the laboratory we used dry ice to kill part of the tissue while leaving the surrounding muscle healthy and viable, Dr Hudson said.

We found those tissues fully recovered because they were immature and the cells could regenerate in contrast to what happens normally in the adult heart where you get a dead patch.

Our goal is to use this model to potentially find new therapeutic targets to enhance or induce cardiac regeneration in people with heart failure.

Studying regeneration of these damaged, immature cells will enable us to figure out the biochemical events behind this process.

Hopefully we can determine how to replicate this process in adult hearts for cardiovascular patients.

Each year, about 54,000 Australians suffer a heart attack, with an average of about 23 deaths every day.

The UQ research has been supported by the National Health and Medical Research Council (NHMRC) and the National Heart Foundation.

Heart Foundation Queensland CEO Stephen Vines said the charity was excited to fund such an important research project.

Heart attack survivors who have had permanent damage to their heart tissue are essentially trying to live on half an engine, Mr Vines said.

The research by Dr Hudson and Dr Porello will help unlock the key to regenerating damaged heart tissue, which will have a huge impact on the quality of life for heart attack survivors.

Dr Hudson and Dr Porello are deserved recipients of our highest national research accolade the Future Leader Fellowship Award.

Reference:

Tiburcy, M., Hudson, J. E., Balfanz, P., Schlick, S. F., Meyer, T., Liao, M. C., . . . Zimmermann, W. (2017). Defined Engineered Human Myocardium with Advanced Maturation for Applications in Heart Failure Modelling and Repair. Circulation. doi:10.1161/circulationaha.116.024145

This article has been republished frommaterialsprovided by University of Queensland. Note: material may have been edited for length and content. For further information, please contact the cited source.

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'Beating' Heart Created from Stem Cells - Technology Networks

Growing significant numbers of human stem cells in a short time could lead to new treatments for stroke and other health issues. Scientists are sending stem cells to the International Space Station to test whether these cells proliferate faster in microgravity without suffering any side effects.

Therapeutic uses require hundreds of millions of stem cells and currently no efficient way exists to produce such quantities. Previous research suggests that microgravity could help, and the space station is home to the nation's only national lab in microgravity.

Some types of stem cells grow faster in simulated microgravity, according to Abba Zubair, a researcher at the Mayo Clinic in Jacksonville, Florida. Zubair is principal investigator for the Microgravity Expanded Stem Cells investigation, which is cultivating human stem cells aboard the space station for use in clinical trials back on Earth. He holds a doctor of medicine degree in transfusion medicine and cell therapy and a doctorate of philosophy in tumor immunology.

Human stem cells are cells that have not yet specialized in function and can divide into a spectrum of cell types, rejuvenating and repairing tissue throughout a person's lifetime. Stem cells in every organ of the body, including skin and bones, maintain those organs and repair tissue by dividing and differentiating into specialized cells.

Harvesting a person's stem cells and growing enough of them for use in therapies has proven difficult, though. Researchers have successfully grown mesenchymal stem cells, found in bone marrow, but growing sufficient quantities takes weeks. That could be too late for treatment of some conditions.

"Stem cells are inherently designed to remain at a constant number," Zubair explains. "We need to grow them faster, but without changing their characteristics."

The first phase of the investigation, he adds, is answering the question: "Do stem cells grow faster in space and can we grow them in such a manner that they are safe to use in patients?"

Investigators will examine the space-grown cells in an effort to understand the mechanism behind microgravity's effects on them. The long-term goal is to learn how to mimic those effects and develop a safe and reliable way to produce stem cells in the quantities needed.

The second phase will involve testing clinical application of the cells in patients. Zubair has been studying treatment of stroke patients with lab-grown stem cells and plans to compare those results with use of the space-grown stem cells.

"What is unique about this investigation is that we are not only looking at the biology of the cells and how they grow, but focusing on application, how we can use them to treat patients," he says.

The investigation expands existing knowledge of how microgravity affects stem cell growth and differentiation as well as advances future studies on how to produce large numbers of stem cells for treating stroke and other conditions.

The faster that happens, the better for those who could benefit from stem cell therapies.

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Stem Cells Seem Speedier in Space - Space Daily

LOS ANGELESIn the course of March 3-4, the Armenian Bone Marrow Donor Registry (ABMDR) held unprecedented community-outreach and donor-recruitment events throughout Javakhk, in Western Georgia, led by an ABMDR team from Yerevan.

The historic recruitment campaign, which took place in Armenian communities in Akhaltskha, Akhalkalak, and Ninotsminda, was organized with the assistance of the Armenian Relief Society (ARS) of Javakhk, and the invaluable logistical support of Karine Tadevosyan, chairperson of the ARS Javakhk Region, and other local ARS members.

Throughout the recruitment and outreach events, ABMDR Executive Director Dr. Sevak Avagyan and Medical Director Mihran Nazaretyan delivered lectures and made presentations with regard to ABMDRs life-saving mission, to the great enthusiasm of hundreds of local Armenian-community members. Also addressing the community gatherings were Tadevosyan and other executive members of ARS Javakhk. By the conclusion of the recruitment campaign, 76 local Armenians had joined the ranks of ABMDR as potential bone marrow donors.

Words cannot describe our joy as we marvel at the support, excitement, and spirit of activism which our recruitment campaign was met with, in every single Javakhk community where we held events, said Dr. Frieda Jordan, President of ABMDR, and added, We convey our heartfelt gratitude to Karine Tadevosyan, all of her gracious ARS colleagues, other local community leaders, and the Armenian people of Javakhk as a whole, for joining our global family of bone marrow donors, toward our shared quest of saving lives.

About the Armenian Bone Marrow Donor Registry

Established in 1999, ABMDR, a nonprofit organization, helps Armenians and non-Armenians worldwide survive life-threatening blood-related illnesses by recruiting and matching donors to those requiring bone marrow stem cell transplants. To date, the registry has recruited over 28,000 donors in 42 countries across four continents, identified over 4,200 patients, and facilitated 27 bone marrow transplants. For more information, call (323) 663-3609 or visit abmdr.am.

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76 Javakhk Armenians Join ABMDR as Bone Marrow Donors ... - Asbarez Armenian News

Palm Beach Post (blog)

Blinded by science: Women go blind after stem-cell treatment at Florida clinic Palm Beach Post (blog) In 2010, for example, a woman with the autoimmune disease lupus died after her own bone marrow cells were injected into her kidneys at a clinic in Thailand. In 2013, the Florida Department of Health revoked the medical license of Zannos Grekos over the ... Borrowing from nature: UW-Madison scientists use plants to grow stem cellsMadison.com Study shows stem cell therapy is safe for stroke patients; may aid ...Medical Xpress The Worst 'Healthcare': 'Stem Cell' Clinics Wrought with Red Flags, Insincerity and BlindnessAmerican Council on Science and Health Medgadget (blog) -The Republic of East Vancouver all 34 news articles »

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Blinded by science: Women go blind after stem-cell treatment at Florida clinic - Palm Beach Post (blog)

Science Daily

First patient cured of rare blood disorder Science Daily The transplant technique is unique, because it allows a donor's cells to gradually take over a patient's bone marrow without using toxic agents to eliminate a patient's cells prior to the transplant. ... treatment options have been limited because they ... Doctors cure first patient with rare blood disorderIANS all 3 news articles »

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First patient cured of rare blood disorder - Science Daily

THE story of Alice Pyne, the Ulverston teenager whose life-threatening blood cancer prompted a search for a bone marrow donor back in 2011, touched the lives of many people in Furness.

One such person was Josh Cain. Then a 17-year-old, he was one of thousands of people who signed up to the register run by the charity Anthony Nolan in the hope that he would be the match which might save her life.

Even when Alice was told that her Hodgkins lymphoma had become terminal, meaning no further treatment would help her, she continued to campaign to get more people to sign up to be bone marrow, or stem cell, donors.

And it is a testament to her inspiring spirit that, four years after Alices death, Josh, of Meadowlands Avenue, Barrow, has potentially saved the life of another person.

I saw on Facebook that Alice was looking for a donor, and then it was on her bucket list. I wanted to help, so I went and did it online, says Josh, 25, a BAE Systems worker.

When his "spit kit" arrived, Josh completed it, popped the prepaid envelope in the postbox and didnt hear anything until an email from Anthony Nolan landed in his inbox around one year ago.

It said that I was a potential match for someone and asked me to do a blood test, he adds.

When a total of 10 vials arrived, Josh might have been forgiven for feeling a little daunted. Far from it, says the modest young lad, who maintains that his overriding emotion has been "excited" since day one.

After sending off his blood, however, Anthony Nolan informed him that the procedure had been put off because his match was not healthy enough. Theyd be back in touch if he was needed. Josh carried on, waiting and wondering about the fate of the patient.

Three weeks ago, everything changed. Josh received a call to say the procedure was going ahead, triggering a rapid sequence of events.

Anthony Nolan sent me everything I needed to know, and all my expenses were covered by the charity, he explains.

As Josh learned, there are two procedures which donors can complete - a bone marrow donation, which involves an operation, or through peripheral blood stem cell donation. In around 90 per cent of cases, including Josh, its the latter.

Before a person can receive a donation of blood stem cells from a suitable donor, they will be given high dosages of chemotherapy, and possibly radiation therapy in order to completely destroy all the diseased cells in their body. They can often be an hour away from death; the reason that, once the go-ahead is given, everything is done at an accelerated pace.

First came a medical in London. A few days later, Josh was put on a course of four growth hormones which involved a nurse visiting his house and administering injections designed to create an excess of stem cells which multiply into the bloodstream.

Days later he was in the London Clinic hospital where the stem cells were extracted from one arm, and his blood returned to the other.

He spent four hours in a bed with his proud girlfriend Claudia Little, 20, at his side. An overnight stay to ensure the hospital had enough cells followed.

They warn you about all the side effects and they are always asking if youre OK, they want to prepare you as much as possible, said Josh.

I wasnt really fazed by any of it, Im not squeamish at all and I was just excited that I could be helping someone. I feel proud to have done it.

As for side effects, he says, they have been few and far between.

Ive felt a bit of fatigue but not a lot other than that, says Josh, who has been supported by BAE Systems throughout the process.

All the charity will say at this stage is that the recipient is an adult male and he can send a card anonymously through the charity. In two years' time, he can find out whether the procedure worked - and the recipient can choose to get in touch.

You only know a rough age and gender. I decided I wanted to know if it is a success, but I want to send a card either way, said Josh.

Witnessing the work of Anthony Nolan first hand has inspired Josh to raise awareness and funds for the charity. The only criteria for donors is that theyre healthy, and aged between 16 and 30.

It is particularly keen to get healthy young men like Josh on the list. At the moment, they only make up 15 per cent of those signed up, and last year a YouGov survey found that 34 per cent of young men who wouldnt sign up as a stem cell donor were just too scared that the experience would be painful.

Which is why Josh is starting by sharing his own experience. And his message to those who arent on the register?

He said: Definitely do it, even if youre a bit scared of needles.

Whatever you have to do when youre donating, its absolutely nothing compared to what people with blood cancer are going through.

Continued here:
Barrow man inspired by Ulverston teen potentially saves a life - NW Evening Mail

To grow clusters of human stem cells that mimic organs in the lab and might be used someday in tissue implants, Bill Murphy, a UW-Madison professor of biomedical engineering, creates tiny scaffolds made of plastic or rubber.

The three-dimensional scaffolds must support the cells and feed them, help them organize and allow them to communicate.

One spring day in 2014, Murphy looked out his office window near UW Hospital, onto the universitys Lakeshore Nature Preserve, and saw a structure that does those very things naturally: plants specifically, cellulose, the main component of the cell walls of green plants.

Now, Murphy and Gianluca Fontana, a UW-Madison post-doctoral fellow with help from Olbrich Botanical Gardens have grown skin, brain, bone marrow and blood vessel cells on cellulose from plants such as parsley, spinach, vanilla and bamboo.

Plants could be an alternative to artificial scaffolds for growing stem cells, the researchers reported Monday in the journal Advanced Healthcare Materials.

Rather than having to manufacture these devices using high-tech approaches, we could literally pick them off of a tree, said Murphy, co-director of the UW-Madison Stem Cell and Regenerative Medicine Center.

The strength, porosity and large surface area of plants could prove superior to making scaffolds using current methods, such as 3-D printing and injection molding, Murphy said.

Plants have a huge capacity to grow cell populations, he said. They can deliver fluids very efficiently to their leaves ... At the microscale, theyre very well organized.

In addition, there are many plants to chose from. After Murphys inspirational gaze out the window, he and Fontana tested plants as scaffolds for stem cells using varieties they could easily obtain: parsley, spinach, jewelweed, water horsetail, summer lilac and, from the UW Arboretum, softstem bulrush.

Then Fontana asked John Wirth, Olbrichs conservatory curator, about other species that might work. Wirth invited Fontana to walk through the tropical greenhouse and take samples back to his lab.

I had never had a request like this before; it made me look at plant material in a different way, Wirth said. I think its a fantastic way of using these pieces of living tissue, to grow human tissue.

Olbrich plants that proved useful include vanilla, bamboo, wasabi, elephant ear, zebra plant and various orchids.

To use plants as scaffolds, the scientists strip away all of the cells, leaving husks of cellulose. Since human cells have no affinity for plants, they add peptides as biological fasteners.

Theyre like grappling hooks for the cells to attach to the plant, Murphy said.

To determine if plant scaffolds could really replace those made of plastic or rubber, the researchers hope to test the cellulose models in animal studies this year.

A major goal of tissue engineering is to develop implants that could regenerate tissue in people to repair bone or muscle damage after traumatic injuries, for example.

It is likely the human body wouldnt reject tissue implants formed on plant scaffolds because the plant cells would be removed, Murphy said.

Were crossing kingdoms, he said. But were optimistic that these materials would be well-tolerated.

Originally posted here:
Borrowing from nature: UW-Madison scientists use plants to grow ... - La Crosse Tribune

Neuroscientists at the Wisconsin-based Wicab Inc have developed a device called BrainPort that helps blind people see with their tongues. According to the late co-founder of the company, neuroscientist Paul Bach-y-Rita, we see with our brains and not with our eyes, so it should be possible to develop devices that allow the blind to see.

BrainPort involves collecting visual data using a small digital camera that the blind person wears on a pair of sunglasses. The digital optical signals are then converted by a central processing unit (CPU) about the size of a cell phone that the blind person carries in his/her pocket into electrical signals, simulating and replacing the function of the retina. The CPU then sends the signals to sensors on the surface of a lollipop-like device that the blind person carries in the mouth. The nerves on the tongue receive these signals and transmit them to the brain, thereby creating the images of the object being viewed. With a little learning, the user can distinguish between a knife and a fork on the dining table and read letters and numbers and decipher them on the buttons in an elevator.

The device originally announced in 2009 has been tested extensively at the University of Pittsburgh Medical Centres UPMC Eye Centre and is now commercially available. In a subsequent development, the images can be transferred to the brain by an arm band through the nervous system in the arms. This avoids the use of lollipop devices.

Another way to restore vision for the blind has been developed by Prof. Michael Beauchamp at the University of Texas. He is exploring the possibility of electrically stimulating the visual cortex of the brain by means of electrical implants. He also believes that we see not with our eyes but with our brains and if electrical images generated from the visual objects can be transferred to the correct region of the brain, vision can be restored. About 10 percent of the blind people experience vivid hallucinations. This is attributed to the hyperactivity of the visual cortex of the brain and the images produced can be seen in exquisite detail. It is envisaged that a webcam fitted on the glasses of the blind person could be connected to an implant in the brain to restore vision.

The ability to record brain activity while seeing an image, and then play it back to reconstruct that image has been a matter of pure science fiction until now. Scientists working at the University of California, Berkeley, have succeeded in reconstructing visual images after recording the brain activity of people watching movie trailers. The scientists were able to see what peoples brains were seeing. They used a functional Magnetic Resonance Imaging (fMRI) scanner to record the flow of blood in certain parts of the brain. Using powerful computing techniques, it was possible to correlate the visual images with corresponding brain activities. This allowed the images to be reconstructed. The researchers hope to eventually read the thoughts of patients in a coma or those suffering from a paralysis after a stroke. They can even apply these techniques on spies who are trying to hide information. Researchers have now also succeeded in reconstructing words by detecting peoples corresponding brain activity.

Another area of intense research activity is that of regenerative medicine that involves the growth of human cells and tissues. Indeed stem cell therapy is heralding the advent of a revolution in medicine to repair damaged kidney and heart cells and to treat diabetes and other diseases. Stem cells can be differentiated into different types of specialised cells (heart, kidney, pancreas etc). Adult stem cell therapies have been used for a long time to treat leukaemia and other cancers by bone marrow transplants.

Now a special bandage, seeded with stem cells, has been developed by scientists at the Bristol University in the UK to repair cartilage tears that are otherwise difficult to heal. The bone marrow is extracted from the hip of the patient with a needle. Stem cells are obtained from it and multiplied separately before being embedded into a special membrane/bandage which is inserted into the torn cartilage. The stem cells present on the membrane are expected to help the healing process. The procedure can help repair meniscus tears that are particularly common in athletes.

Ink jet printers are commonly used for printing documents. An astounding breakthrough has been made by doctors at the Wake Forest Institute of Regenerative Medicine in the US where a device that resembles an ink jet printer can be used to spray new skin cells on to burn wounds. This method results in rapid healing and can eventually replace the need for having skin grafts. The device resembles a colour ink jet printer and comprises a tank that contains skin cells, stem cells and nutrients. These are sprayed by a computer controlled nozzle directly on to the burnt area. In animal experiments, the wounds in mice were fully healed within two weeks using this technique compared to the five-week period that skin graft procedures took. The ink jet printer method also showed less scarring and better hair regeneration. The technology is being employed by the US army to print-shut bullet wounds and blast damage.

Magicians have been practising the art of making objects disappear for centuries. Now, science can take on that role. In 2006, Prof. John Pendry and his colleagues proposed the design of a cloak that could steer light around an object, making it invisible. Soon thereafter Dr David Smith at Duke University made a cloaking device that used certain metamaterials that had unusual electromagnetic properties. The invisible threads of these metamaterials are made of components smaller than the wavelength of light. This allows them to bend light waves and impart optical properties that are not present in normal substances. Computer models indicate that such threads should not be thicker than a micrometre. When these carpet cloaks are placed over an object, the object becomes invisible.

The technology has applications in defence: it may allow soldiers, weapons, warships and planes to appear invisible. Harry Potters cloak of invisibility is fast becoming a reality. Invisible armies, ships, planes and submarines cloaked by metamaterials seem like a possibility in the near future.

Countries investing in these cutting edge researches are making billions of dollars through such entrepreneurial ventures. If Pakistan is to prosper, we must give the highest national priority to education, science, technology, innovation and entrepreneurship. This requires a visionary government that understands the critical role of a knowledge-based economy in the rapidly changing world of today.

The writer is chairman of UN ESCAP Committee on Science Technology & Innovation and former chairman of the HEC.

Email: [emailprotected]

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Disruptive innovations - The News International

In Brief

Macular degeneration affects more than 10 million people in the U.S., and is the most common cause of vision loss. It is caused by the deterioration of the middle of the retina, called the macula. The macula focuses central vision and controls our ability to see objects in fine detail, read, recognize colors and faces, and drive a car. Until now, the disease has been considered incurable.

An octogenarian with the condition is now the first person to receivesuccessful treatmentwith induced pluripotent stem (iPS) cells. The progression of the womans macular degenerationwas arrested by new retinal cells made in the lab.Unlike embryonic stem cells, iPS cells can be created from regular adult cells.In this case, the cells used to repair the damaged retina from macular degeneration came from the womansskin.

The team at Kobe, Japans RIKEN Laboratory for Retinal Regeneration, led by Masayo Takahashi, created iPS cells from the patients skin cells. Then, theyencouraged them to form cells to patch the retinal pigment epithelium. These cells help nourish and support the retina, allowing it to capture the light the eye needs to see.

Once the cells were transformed, the team used them to make a slither measuring 1 by 3 millimeters. This was the patch they used to replace the diseased tissue removed from the patients retina. Their aim was to stop the degeneration and save her sight. The results show that the procedure was technically a success: although her vision did not improve, the degeneration stopped.

A possible concern about this treatment, however, is that creating new tissues from stem cells could cause genetic mutations, which might in turnlead to cancer. While more research in this area and its possible applications is needed, in the case of the patient at RIKEN, therehave been no signs of cancer or any other complications.

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A Groundbreaking Stem Cell Treatment Just Prevented a Woman From Going Blind - Futurism

The ability to freeze things is our greatest weapon against the passage of time. To a frozen fish fillet or chicken nugget, physical aging is barely a threat: the cold protects them indefinitely against the hot degradation of bacterial death. Better still, when they are finally thawed, they are practically as good as new. Cryonics, a hypothetical science cited as a human preservation technique in sci-fi movies like Passengers and Austin Powers, is a proposition that our bodies, like meat, will be eternally preserved by turning them into ice.

The problem is, a frozen body isnt so easily defrosted.

Cryonics biggest obstacle is our physical composition. Two-thirds of the human body is water, which means that some 66 percent of the human bodys cells will turn into ice if its not frozen correctly. And ice, as anyone with a freezer knows, takes up more space than water in its liquid form. Theres no way our fragile cell walls and veins could contain waters rapid expansion, driven by the formation of crystal lattices of H2O, once our bodies are dropped into a freezer. If the point of cryonics (thats the process of freezing entire bodies; cryogenics is the study of biology at low temperatures as a whole) is to someday unfreeze a human, maintaining the bodys integrity is key. Thats why cryonics researchers put all of their efforts into perfecting a process that stops our fluids from freezing into ice, turning them instead to glass.

Unlike ice, glass contains no crystals that might fracture or stab the other contents in the liquid. The idea behind vitrification named for the French verb for converting things into glass, vitrifier is that the formation of ice crystals in our cells, which would inevitably puncture or deform the machinery inside them, can be prevented by adding the right types of antifreeze to our bodies. While we associate antifreeze with the blue stuff we put in cars in the winter, it really refers to any molecule that can be mixed into a solution with water to disrupt the crystal-forming process. It is a lot harder for water molecules to find each other and form a solid lattice when other, bigger molecules are getting in their way. In the same way a slushy alcoholic cocktail or a fruit sorbet never form a solid mass of ice because they contain substances other than water, the fluids in a body filled with antifreeze molecules or cryoprotectants will turn much more viscous, but never quite solid.

This phenomenon already happens in nature: certain species of frogs, for example, produce glycerol or glucose tiny, natural sugars that wedge between water molecules, keeping their fluids running, albeit slowly, at subzero temperatures. Scientists trying to make cryonics work have struggled to find substances that can do the same under even colder conditions without killing us. As of right now, options are limited: as a review of cryoprotectants in Rejuvenation Research noted in 2015, our best bets are on molecules like ethylene glycol and propylene glycol literally those used in cars and other known preservatives like methanol, formamide, and butanediol. All of these are pretty toxic, and especially so at high concentrations.

A person that undergoes cryonic preservation begins the vitrification process almost immediately after they are declared brain dead. As the body is rapidly cooled to a temperature just slightly above the freezing point, the heartbeat and respiration are artificially maintained as heparin is injected to prevent coagulation and cryoprotectants are perfused into the body. When vitrification is complete full glassiness occurs at around 196C, according to a 2015 report in the journal Neuroethics the body is then fully submerged in liquid nitrogen at a temperature of 196C.

Then, we wait.

Tests on frozen organs have shown that cryonic freezing with cryoprotectants works to a certain extent, depending on the organ, but damage still results from the toxicity of the antifreeze or from errant ice crystals that manage to form.

Despite these setbacks, cryonics companies like the Cryonics Foundation and the Alcor Life Extension Foundation, which just froze its 148th patient in August 2015, are already using techniques like vitrification in the hopes that future researchers will have figured out how to bring bodies back to life. Only time will tell if this experimental technique actually works.

Photos via Passengers

Yasmin is a writer and former biologist living in New York. A Toronto girl at heart, her writing also appears in The Last Magazine and SciArt in America. You might recognize her as a past host of Scientific American's YouTube series.

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Cryonics Experts Want to Freeze Human Blood Into Glass - Inverse

Testing the efficacy of new gene therapies more efficiently ... Science Daily Using a new cellular model, innovative gene therapy approaches for the hereditary immunodeficiency Chronic Granulomatous Disease can be tested faster and ... and more »

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Testing the efficacy of new gene therapies more efficiently ... - Science Daily

Oncology Nurse Advisor

Thymomas Trigger Newly Described Autoimmune Endocrine Disease Oncology Nurse Advisor Thymomas, a rare type of cancer in the thymus gland, can result in a newly described autoimmune disease, potentially leading to hypopituitarism, according to a recent study in Scientific Reports. Understanding the underlying mechanisms could improve ...

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Thymomas Trigger Newly Described Autoimmune Endocrine Disease - Oncology Nurse Advisor

A team of scientists has developed a new safety index for a common group of chemotherapy drugs, by using a stem cell model to screen such therapies for their potential to damage patients hearts.

The study, published in Science Translational Medicine, was co-authored by Paul Burridge, PhD, assistant professor of Pharmacology.

Tyrosine kinase inhibitors (TKIs), a class of chemotherapy drugs, have become increasingly important in treating many types of cancer. But almost all TKIs are also associated with cardiovascular side effects ranging from arrhythmias to heart failure and there has not yet been an effective tool to predict this cardiotoxicity.

In the current study, the scientists demonstrated that human-induced pluripotent stem cells can be used to model how TKIs might affect the hearts of patients receiving chemotherapy.

To do so, the scientists took stem cells from both a control group and patients with cancer and reprogrammed them to become cardiomyocytes, or heart muscle cells. Using high-throughput screening, they then evaluated how the heart cells responded to treatment with 21 different FDA-approved TKIs, looking at factors like cell survival, signaling and alterations in their ability to beat properly.

With the stem-cell data, the scientists were able to create a cardiac safety index, which ranks the TKIs on their likelihood of inflicting heart damage. That index correlates with the toxicity that has been observed in patients clinically a validation that suggests the screening system might be a powerful tool in predicting toxicity before therapies are ever administered to patients.

Future research could establish even more specific predictions, by comparing the genomes of patients who might experience a certain drug side effect, such as atherosclerosis, with those who dont. Long-term, what my lab is interested in is taking a patients whole genome and, based on the work weve done in the past, being able to predict whether a patient will have an adverse drug event, said Burridge, also a member of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University. This is the whole idea of pharmacogenomics, or precision medicine: Everyone is going to have a different response to a drug, and that response good or bad is already encoded in all of us.

In the study, the scientists also discovered that administering insulin or insulin-like growth factor 1 alongside TKIs seemed to protect against some of the heart damage associated with the drugs. While its still early, this is the first step toward opening up a whole new field of identifying cardioprotectants to reduce the toxicity of these drugs, Burridge said.

This article has been republished frommaterialsprovided byNorthwestern University, Feinberg School of Medicine. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Stem Cell Cardiac Toxicity Model for Testing Chemotherapy Agents - Technology Networks

March 20, 2017 by Melissa Gaskill Cultured stem cells. Credit: BioServe Inc., University of Colorado

Growing significant numbers of human stem cells in a short time could lead to new treatments for stroke and other diseases. Scientists are sending stem cells to the International Space Station to test whether these cells proliferate faster in microgravity without suffering any side effects.

Therapeutic uses require hundreds of millions of stem cells and currently no efficient way exists to produce such quantities. Previous research suggests that microgravity could help, and the space station is home to the nation's only national lab in microgravity.

Some types of stem cells grow faster in simulated microgravity, according to Abba Zubair, a researcher at the Mayo Clinic in Jacksonville, Florida. Zubair is principal investigator for the Microgravity Expanded Stem Cells investigation, which is cultivating human stem cells aboard the space station for use in clinical trials back on Earth. He holds a doctor of medicine degree in transfusion medicine and cell therapy and a doctorate of philosophy in tumor immunology.

Human stem cells are cells that have not yet specialized in function and can divide into a spectrum of cell types, rejuvenating and repairing tissue throughout a person's lifetime. Stem cells in every organ of the body, including skin and bones, maintain those organs and repair tissue by dividing and differentiating into specialized cells.

Harvesting a person's stem cells and growing enough of them for use in therapies has proven difficult, though. Researchers have successfully grown mesenchymal stem cells, found in bone marrow, but growing sufficient quantities takes weeks. That could be too late for treatment of some conditions.

"Stem cells are inherently designed to remain at a constant number," Zubair explains. "We need to grow them faster, but without changing their characteristics."

The first phase of the investigation, he adds, is answering the question: "Do stem cells grow faster in space and can we grow them in such a manner that they are safe to use in patients?"

Investigators will examine the space-grown cells in an effort to understand the mechanism behind microgravity's effects on them. The long-term goal is to learn how to mimic those effects and develop a safe and reliable way to produce stem cells in the quantities needed.

The second phase will involve testing clinical application of the cells in patients. Zubair has been studying treatment of stroke patients with lab-grown stem cells and plans to compare those results with use of the space-grown stem cells.

"What is unique about this investigation is that we are not only looking at the biology of the cells and how they grow, but focusing on application, how we can use them to treat patients," he says.

The investigation expands existing knowledge of how microgravity affects stem cell growth and differentiation as well as advances future studies on how to produce large numbers of stem cells for treating stroke and other conditions.

The faster that happens, the better for those who could benefit from stem cell therapies.

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Abba Zubair, M.D., Ph.D, believes that cells grown in the International Space Station (ISS) could help patients recover from a stroke, and that it may even be possible to generate human tissues and organs in space. He just ...

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NASA and the Center for the Advancement of Science in Space (CASIS) are enabling research aboard the International Space Station that could lead to new stem cell-based therapies for medical conditions faced on Earth and in ...

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Stem cells hold great promise for transforming medical care related to a diverse range of conditions, but the cells often lose some of their therapeutic potential when scientists try to grow and expand them in the laboratory. ...

As children, we learned about our solar system's planets by certain characteristicsJupiter is the largest, Saturn has rings, Mercury is closest to the sun. Mars is red, but it's possible that one of our closest neighbors ...

(Phys.org)Astronomers have inspected a mysterious isolated star cluster complex designated SH2 in the galaxy NGC 1316 (also known as Fornax A). The results of their study, which were published Mar. 1 in a paper on arXiv.org, ...

Growing significant numbers of human stem cells in a short time could lead to new treatments for stroke and other diseases. Scientists are sending stem cells to the International Space Station to test whether these cells ...

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Johns Hopkins University scientist Kirby Runyon wants to make one thing clear: Regardless of what one prestigious scientific organization says to the contrary, Pluto is a planet. So is Europa, commonly known as a moon of ...

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Stem cells seem speedier in space - Phys.Org

The right bone marrow donor match has been hard to find for one 2-year-old.

Shern-Min Chow, KHOU 6:49 PM. CDT March 20, 2017

The right bone marrow donor match for this 2-year-old has been hard to find. (Photo: KHOU)

HOUSTON - Roman Shen is a happy 2-year-old. You wouldn't know it, but he suffers from Shwachman Diamond Syndrome, or SDS. That means his bone marrow doesn't work properly and doesnt make its own white blood cells.

The right bone marrow donor match has been hard to find.

Mostly because he is mixed race, Chinese-Italian, and they are underrepresented in the bone marrow registry," said Nicole Shen, his mother.

Mixed race people are 4 percent of the bone marrow registry. So for the past 2 years, Romans parents have been actively involved with the registry, launching and participating in Be the Match registration drives.

It takes about 10 minutes. You swab the inside of your cheek. You could save my son's life or someone else's life," Nicole Shen said.

Why is race so important to marrow donation?

You're matching antigens that are produced by your stem cells and those are in many cases matched to ethnicity," saidBe The Match spokeswoman FeliciaGann.

One in 540 registrants will end up being a match. Donors give either with platelets, which are given much like a blood donation or with actual bone marrow, removed from the hip bone via needle. Bone marrow transplants are used to treat over 70 diseases.

The Gulf Coast Regional Blood Center houses the Gulf Coast Marrow Donor Program (GCMDP) and is an accredited donor center for the National Marrow Donor Program (NMDP) which operates the Be The Match Registry. For more information, contact the GCMDP at (713)-791-6697.

To register as a potential marrow donor, you must be 18 to 44 years old and in general good health. Registration takes 10 minutes and involves completing a form and a cheek swab with a Q-tip.

You may register at any of the Gulf Coast Regional Blood Center Locations onlineor arrange for representatives come to you by emailing fgann@giveblood.org.

2017 KHOU-TV

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Family of 2-year-old hopes to find bone marrow donor - KHOU.com

The study consists of donor and patient pairs for allogeneic hematopoietic cell transplantation. The first part of the study, which is nearing completion, is intended to enroll an initial cohort of 10 donor and recipient pairs, consisting of patients with advanced hematological malignancies and their HLA-matched sibling donors. Interim results show that a single injection of BL-8040 mobilized sufficient amounts of cells required for transplantation at a level of efficacy similar to that achieved by using 4-6 injections of G-CSF, the current standard of care. Furthermore, all recipients transplanted so far have experienced a successful neutrophil engraftment. The recipients will be followed for one year to assess acute and chronic GVHD events. As for the donors, BL-8040 treatment was safe and well tolerated.

Philip Serlin, Chief Executive Officer of BioLineRx, stated, "We are very encouraged by these initial results of the Phase 2 clinical trial for assessing BL-8040, our lead oncology and hematology platform, as a single agent for hematopoietic stem cell mobilization for allogeneic transplantation. Hematopoietic stem cells are increasingly used as part of the treatment regimen for certain types of hematological cancers, as well as for severe anemia and immune deficiency disorders. These results, supporting BL-8040 as a one-day dosing and up-to-two-day collection regimen, for rapid mobilization of substantial amounts of stem cells, represent a significant improvement over the current standard of care, which requires four-to-six daily injections of G-CSF and one-to-four apheresis sessions.If there are no safety concerns regarding graft failure or rejection after the interim safety review of donor-recipient pairs participating in Part 1 of the study, we will continue with Part 2 of the study, which will permit enrollment of recipients with either matched sibling or haploidentical donors, up to a total enrollment in the study of 24 donor-recipient pairs. We are looking forward to the topline results expected by the end of 2017."

"We continue our efforts to maximize the potential of our unique BL-8040 oncology platform, with multiple clinical studies for additional indications up and running or expected to start in 2017, including several combination studies with immune checkpoint inhibitors and a registration study in stem-cell mobilization for autologous transplantation," added Mr. Serlin.

The Phase 2 open-label study is conducted in collaboration with the Washington University School of Medicine, Division of Oncology, and will enroll up to 24 donor/recipient pairs, aged 18-70. The trial is designed to evaluate the ability of BL-8040, as a single agent, to promote stem cell mobilization for allogeneic hematopoietic cell transplantation. On the donor side, the primary endpoint of the study is the ability of a single injection of BL-8040 to mobilize sufficient amounts of cells for transplantation following up to two apheresis procedures. On the recipient side, the study aims to evaluate the time to engraftment rate following transplantation of the BL-8040 collected graft.

The study will also evaluate the safety and tolerability of BL-8040 in healthy donors, as well as graft durability, the incidence of grade 2-4 acute and chronic GVHD, and other recipient related parameters in patients who have undergone transplantation of hematopoietic cells mobilized with BL-8040.

About BL-8040

BL-8040 is a short peptide for the treatment of acute myeloid leukemia, solid tumors, and certain hematological indications. It functions as a high-affinity antagonist for CXCR4, a chemokine receptor that is directly involved in tumor progression, angiogenesis, metastasis and cell survival. CXCR4 is over-expressed in more than 70% of human cancers and its expression often correlates with disease severity. In a number of clinical and pre-clinical studies, BL-8040 has shown robust mobilization of cancer cells from the bone marrow, thereby sensitizing these cells to chemo- and bio-based anti-cancer therapy, as well as a direct anti-cancer effect by inducing apoptosis. In addition, BL-8040 has also demonstrated robust stem-cell mobilization, including the mobilization of colony-forming cells, and T, B and NK cells. BL-8040 was licensed by BioLineRx from Biokine Therapeutics and was previously developed under the name BKT-140.

About Stem Cell Mobilization

High-dose chemotherapy followed by hematopoietic cell transplantation has become an established treatment modality for a variety of hematologic malignancies, including multiple myeloma, as well as various forms of lymphoma and leukemia. Modern peripheral stem-cell harvesting often replaces the use of traditional surgical bone marrow stem-cell harvesting. In the modern method, stem cells are mobilized from the bone marrow using granulocyte colony-stimulating factor (G-CSF), often with the addition of a mobilizing agent such as Plerixafor (Mozobil), harvested from the donor's peripheral blood by apheresis, and infused to the patient after chemotherapy ablation treatment.

An allogeneic hematopoietic cell transplant involves matching a patient's tissue type, specifically their human leukocyte antigen (HLA) tissue type, with that of a related or unrelated donor. HLA proteins are found on all cells of our body and are the main way the immune system tells the difference between our own cells and foreign cells. The closer the HLA match between a donor and recipient, the greater the chance a transplant will be successful. If the HLA match is not close enough, the donor's immune system, which accompanies the donated stem cells, recognizes the HLA mismatch, and will attack the recipient's tissues. This process is known as graft versus host disease (GVHD).

Approximately 70% of people with a hematological malignancy or bone marrow failure syndrome who need an allogeneic transplant have an HLA-identical sibling or unrelated donor available. For patients who need a stem cell transplant but do not have an HLA-matched related or unrelated donor, recent medical advances have made possible the use of a partially matched or haploidentical related donor. A haploidentical related donor is usually a 50% match to the recipient and may be the recipient's parent, sibling or child.

The advantage of having a haploidentical transplant is thatit increases the chance offinding a donoras almost everyone has at least one haploidentical relative. Relatives can usually be asked to donate stem cells much more quickly than unrelated volunteer donors, particularly when the volunteer donors live in other countries, thereby allowing transplants to be done in a more timely manner.

With improvements in medical treatment, complications of a haploidentical transplant, such as GVHD, rejection of the graft and slow recovery of the immune system appear not to be increased compared to transplants using HLA-matched related or unrelated donors. Since this is a relatively new approach to stem cell transplantation, a haploidentical transplant is a treatment option that is not offered at all treatment centers, but is becoming more common.

About BioLineRx

BioLineRx is a clinical-stage biopharmaceutical company focused on oncology and immunology. The Company in-licenses novel compounds, primarily from academic institutions and biotech companies based in Israel, develops them through pre-clinical and/or clinical stages, and then partners with pharmaceutical companies for advanced clinical development and/or commercialization.

BioLineRx's leading therapeutic candidates are: BL-8040, a cancer therapy platform, which has successfully completed a Phase 2a study for relapsed/refractory AML and is in the midst of a Phase 2b study as an AML consolidation treatment and a Phase 2 study in stem cell mobilization for allogeneic transplantation; and BL-7010 for celiac disease and gluten sensitivity, which has successfully completed a Phase 1/2 study. In addition, BioLineRx has a strategic collaboration with Novartis for the co-development of selected Israeli-sourced novel drug candidates; a collaboration agreement with MSD (known as Merck in the US and Canada), on the basis of which the Company has initiated a Phase 2a study in pancreatic cancer using the combination of BL-8040 and Merck's KEYTRUDA; and a collaboration agreement with Genentech, a member of the Roche Group, to investigate the combination of BL-8040 and Genentech's Atezolizumab in several Phase 1b studies for multiple solid tumor indications and AML.

For additional information on BioLineRx, please visit the Company's website athttp://www.biolinerx.com, where you can review the Company's SEC filings, press releases, announcements and events. BioLineRx industry updates are also regularly updated onFacebook,Twitter, andLinkedIn.

Various statements in this release concerning BioLineRx's future expectations constitute "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995. These statements include words such as "may," "expects," "anticipates," "believes," and "intends," and describe opinions about future events. These forward-looking statements involve known and unknown risks and uncertainties that may cause the actual results, performance or achievements of BioLineRx to be materially different from any future results, performance or achievements expressed or implied by such forward-looking statements. Some of these risks are: changes in relationships with collaborators; the impact of competitive products and technological changes; risks relating to the development of new products; and the ability to implement technological improvements. These and other factors are more fully discussed in the "Risk Factors" section of BioLineRx's most recent annual report on Form 20-F filed with the Securities and Exchange Commission on March 10, 2016. In addition, any forward-looking statements represent BioLineRx's views only as of the date of this release and should not be relied upon as representing its views as of any subsequent date. BioLineRx does not assume any obligation to update any forward-looking statements unless required by law.

Contacts: PCG Advisory Vivian Cervantes Investor Relations +1-212-554-5482 vivian@pcgadvisory.com

or

Tsipi Haitovsky Public Relations +972-52-989892 tsipihai5@gmail.com

SOURCE BioLineRx Ltd.

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BioLineRx Provides Update on Phase 2 Open-Label Study for BL-8040 as Novel Stem Cell Mobilization Treatment - PR Newswire (press release)

To grow clusters of human stem cells that mimic organs in the lab and might be used someday in tissue implants, Bill Murphy, a UW-Madison professor of biomedical engineering, creates tiny scaffolds made of plastic or rubber.

The three-dimensional scaffolds must support the cells and feed them, help them organize and allow them to communicate.

One spring day in 2014, Murphy looked out his office window near UW Hospital, onto the universitys Lakeshore Nature Preserve, and saw a structure that does those very things naturally: plants specifically, cellulose, the main component of the cell walls of green plants.

Now, Murphy and Gianluca Fontana, a UW-Madison post-doctoral fellow with help from Olbrich Botanical Gardens have grown skin, brain, bone marrow and blood vessel cells on cellulose from plants such as parsley, spinach, vanilla and bamboo.

Plants could be an alternative to artificial scaffolds for growing stem cells, the researchers reported Monday in the journal Advanced Healthcare Materials.

Rather than having to manufacture these devices using high-tech approaches, we could literally pick them off of a tree, said Murphy, co-director of the UW-Madison Stem Cell and Regenerative Medicine Center.

The strength, porosity and large surface area of plants could prove superior to making scaffolds using current methods, such as 3-D printing and injection molding, Murphy said.

Plants have a huge capacity to grow cell populations, he said. They can deliver fluids very efficiently to their leaves ... At the microscale, theyre very well organized.

In addition, there are many plants to chose from. After Murphys inspirational gaze out the window, he and Fontana tested plants as scaffolds for stem cells using varieties they could easily obtain: parsley, spinach, jewelweed, water horsetail, summer lilac and, from the UW Arboretum, softstem bulrush.

Then Fontana asked John Wirth, Olbrichs conservatory curator, about other species that might work. Wirth invited Fontana to walk through the tropical greenhouse and take samples back to his lab.

I had never had a request like this before; it made me look at plant material in a different way, Wirth said. I think its a fantastic way of using these pieces of living tissue, to grow human tissue.

Olbrich plants that proved useful include vanilla, bamboo, wasabi, elephant ear, zebra plant and various orchids.

To use plants as scaffolds, the scientists strip away all of the cells, leaving husks of cellulose. Since human cells have no affinity for plants, they add peptides as biological fasteners.

Theyre like grappling hooks for the cells to attach to the plant, Murphy said.

To determine if plant scaffolds could really replace those made of plastic or rubber, the researchers hope to test the cellulose models in animal studies this year.

A major goal of tissue engineering is to develop implants that could regenerate tissue in people to repair bone or muscle damage after traumatic injuries, for example.

It is likely the human body wouldnt reject tissue implants formed on plant scaffolds because the plant cells would be removed, Murphy said.

Were crossing kingdoms, he said. But were optimistic that these materials would be well-tolerated.

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Borrowing from nature: UW-Madison scientists use plants to grow ... - Madison.com

Studying brain disorders is complicated for many reasons, not the least being the ethics of obtaining living neurons. To overcome that obstacle, UC San Francisco postdoc Aditi Deshpande, PhD, is starting with skin cells.

Thanks to developments in stem cell technology, new information about the human brain is now being gleaned from a simple cheek swab or skin sample. This technology is key to the kind of progress Despande and researchers like her are making. It allows them to work with cells otherwise unobtainable living brain cells that have the same genetics as the patients.

Deshpande begins with skin cells obtained from the Simons Foundation from volunteers whose DNA contains a specific deletion or duplication of one chromosome. She cultures these cells and then turns them into induced pluripotent stem cells cells that have been coaxed back to their embryonic state and are able to become any other type of cell. From there, she reprograms them to become a specific type of neuron thats involved in attention and information processing.

The deletion or duplication Deshpande is looking for stems from a 2008 finding by Lauren Weiss, PhD, an associate professor of neurology in the UCSF Department of Psychiatry and the UCSF Institute for Human Genetics.

Weiss discovered a 29-gene region of DNA on chromosome 16 that is associated with autism, seizures and other brain disorders. Normally, a person has two copies of the region one on each copy of chromosome 16. In some of Deshpandes samples, the region is deleted from one chromosome, leaving one copy. In others, the region is duplicated, resulting in three copies. Subjects with only one copy of the region were more likely to have macrocephaly an enlarged brain than a typical subject, and those with three copies were more likely to have microcephaly a smaller brain.

Whats really interesting, said Deshpande, is that although these subjects seem to have opposite features in terms of brain size, we see a related effect, based on whether they have fewer or more copies of the region.

Some known models of autism show a connection between a neurons growth or appearance and macrocephaly, she explained. We wanted to know if the same thing is happening here.

To compare the effect of the mutation, Deshpande first stains the obtained skin cells so that she can visualize the neurons under a microscope. After staining, Deshpande used cell-counting software to assess several thousands of neurons from deletion and duplication samples and measure them against normal neurons. She found that the neurons missing the DNA region exhibited some differences compared to typical neurons.

Her next step in her research is to discern which of the regions 29 genes are involved in these differences.

The work is meticulous, but Deshpande doesnt mind. I simply love looking at neurons, she said. It really makes you appreciate the complexity of the brain.

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Science in Focus: Creating Neurons from Skin Cells to Understand ... - UCSF News Services

Some heritable but unstable genetic mutations that are passed from parent to affected offspring may not be easy to investigate using current human-induced pluripotent stem cell (hiPSC) modeling techniques, according to research conducted at The Icahn School of Medicine at Mount Sinai. The study serves to caution stem cell biologists that certain rare mutations, like the ones described in the study, are difficult to recreate in laboratory-produced stem cells.

Stem cell-based disease modeling involves taking cells from patients, such as skin cells, and introducing genes that reprogram the cells into human-induced pluripotent stem cells (hiPSCs). These master cells are unspecialized, meaning they can be pushed to become any type of mature cell needed for research, such as skin, liver or brain. The hiPSCs are capable of renewing themselves over a long period of time, and this emerging stem cell modeling technique is helping elucidate the genetic and cellular mechanisms of many different disorders.

Our study describes how a complex chromosomal rearrangement genetically passed by a patient with psychosis to her affected son was not well recreated in laboratory-produced stem cells, says Kristen Brennand, PhD, Associate Professor of Genetics and Genomic Sciences, Neuroscience, and Psychiatry at the Icahn School of Medicine, and the studys senior investigator. As stem cell biologists dive into studying brain disorders, we all need to know that this type of rare mutation is very hard to model with induced stem cells.

To investigate the genetic underpinnings of psychosis, the research team used hiPSCs from a mother diagnosed with bipolar disease with psychosis, and her son, diagnosed with schizoaffective disorder. In addition to the normal 46 chromosomes (23 pairs), the cells in mother and son had a very small extra chromosome, less than 1/10th normal size. This microduplication of genes is increasingly being linked to schizophrenia and bipolar disorders, and the extra chromosomal bit, known as a marker (mar) element, falls into the category of abnormally duplicated genes.

For the first time, the Mount Sinai research team tried to make stem cells from adult cells with this type of mar defect. Through the process, they discovered that the mar element was frequently lost during the reprogramming process.

While mar elements in the general population are rare (less than .05 percent in newborn infants), more than 30 percent of individuals with these defects are clinically abnormal, and mar elements are also significantly more likely to be found in patients with developmental delays.

The study found that the mothers cells were mosaic, meaning some cells were normal while others were not, and the hiPSCs the team created accurately replicated that condition: some were normal and some had the extra mar chromosome. But the technique did not work well with the sons cells. While all of his cells should have had the mar element, as with his mother, some of the reprogrammed stem cells did not contain the extra bit of chromosome.

We realized we kept losing the mutation in the stem cells we made, and the inability to recreate cells with mar elements may hamper some neuropsychiatric research, says Dr. Brennand. The bottom line is that it is essential that stem cell biologists look for existing mar elements in the cells they study, in order to check that they are retained in the new stem cells.

Reference:

Tcw, J., Carvalho, C. M., Yuan, B., Gu, S., Altheimer, A. N., Mccarthy, S., . . . Brennand, K. J. (2017). Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis. Stem Cell Reports. doi:10.1016/j.stemcr.2017.01.010

This article has been republished frommaterialsprovided by Mount Sinai Hospital. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Stem Cell-based Modelling can be Difficult for Rare Genetic Variants - Technology Networks