PUBLISHED: 08:45 06 April 2017

Angela Singer

Maddi Thurgood pictured on the farm at Saffron Walden County High

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Scientists are now being recruited for research posts to work on a gene therapy strategy for Maddi Thurgood, the teenager whose rare, so far incurable, wasting condition they hope to treat. If it works, it will be a world first.

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Having travelled to America and Canada to see top specialists, help is now being offered by Sheffield University of Neurosciences (SITRAN) but it will cost 224,000.

With the community rallying in both Saffron Walden and Dunmow, over half that sum has been raised. Maddie is a pupil at the Joyce Frankland Academy in Newport and was previously at Helena Romanes in Dunmow.

After this latest medical trial was reported in The Saffron Walden Reporter and The Dunmow Broadcast, with a picture of Maddie receiving 700 presented by The Ohio Country Music Club in Newport, another benefactor has given 10,000.

Melissa Jones, captain of Saffron Walden Golf Club, is a trustee of The Donald Forrester Trust, set up by her late uncle.

She said: I was aware of the campaign and the collection jars in the shops round the town and when I saw the picture of the donation, I thought our trust was set up for this purpose.

Maddi was diagnosed in April 2016, just after her 15th birthday, with spastic paraplegia gene 15. Its a motor neurone so rare, no one else is known to have it in the UK and fewer than 20 people worldwide. However the Sheffield research project, to develop a gene therapy just for Maddi, could also help a three-year-old girl called Robbie in Boston, America.

Maddis mum, Carina spends her days researching across the globe in a race against time for something to stop her daughter deteriorating.

The youngster, once a keen ice-skater and still an enthusiastic pupil on the animal welfare course at Saffron Walden County High, now walks with a stick. She goes to school on her good days and is always seen with a smile.

Carina, said: We are in touch with Robbies parents constantly. We didnt choose to be in this situation but we are trying to do the best for our children.

The condition eventually affects all four limbs, the brain, vision and hearing. A website: saveourmaddi.co.uk has been set up to appeal for fundraisers. To help Maddi, email: info@saveourmaddi.co.uk or see: http://www.facebook.com/SaveOurMaddiAppeal or http://www.treeofhope.org.uk/maddis-story-save-our-maddi

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Gene research for Essex teenager with rare wasting disease could be a world first - Dunmow Broadcast

Recommendation and review posted by Bethany Smith

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By Malak Abason April 5, 2017

Lungs are a crucial organ in many animals, including humans. While their function has always seemed pretty straightforward to take in oxygen, transfer it into blood, and exhale carbon dioxide scientists have found a previously unrecognized function of the lungs of mice: blood production.

The study, which was published in Nature by researchers at the University of California San Francisco, was performed by inserting fluorescent protein into the mouses genome.

The protein caused the platelets (small blood cells that bind together to help create blood clots when a blood vessel is damaged), in the mouse to glow, allowing scientists to trace the platalets paths. What they found was a massive number of megakaryocytes, a stem cell that produces in the lungs.

When researched further, scientists found that the lung was producing over 10 million blood-producing platelets per hour, and the platelets produced by the lung accounted for the majority of platelets in the mouses circulatory system. Researchers are theorizing that the megakaryocytes are created in the bone marrow, but then travel to the lung to produce platelets.

While it is known that human lungs produce platelets and produce blood, as small amounts of megakaryocytes have been found in lungs before, if these findings are reproduced in humans, it will prove that the sheer amount that lungs produce has been greatly underestimated.

The study also found a reservoir of stem cells with the ability to become blood cells in the lungs. Researchers implanted lungs with the fluorescent megakaryocyte cells into mice that had been engineered to have no blood stem cells in their bone marrow, and found that the fluorescent cells travelled from the lungs to the marrow, and helped to produce platelets and other ingredients in blood, including neutrophils. In cases where the bone marrow is dealing with platelet or stem cell deficiency, these stem cells were able to leave the lung and contribute to the refilling of platelets in the marrow.

If further research indicates that these findings also apply to humans which they very well may, considering the genetic and biological similarities between mice and humans it will not only disprove the current theory that states the bone marrow accounts for most of the human bodys platelet production, but it will also affect how scientists approach treating blood diseases in humans, particularly ones that result in a platelet deficiency, such as thrombocytopenia.

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Lungs of mice found to produce blood - The Manitoban

Recommendation and review posted by Bethany Smith

For about half a decade, its been something of an open secret in baseball that playerspitchers especiallyregularly undergo stem-cell therapy to stave off surgeries and lost playing time. Its a cutting-edge medical procedure, done by everyone from high-school standouts to major-league all-stars. Its rarely discussed by players, or by their coaches, parents, doctors, or employers.

So when the Los Angeles Angels went public in 2016 with the news that first Andrew Heaney and then Garrett Richards were undergoing stem-cell therapy for torn ulnar collateral ligaments (UCLs), it was both anticlimactic and a revelation. For the first time, baseball pitchers and their employers were openly admitting trying this novel procedure that, while fairly well-proven anecdotally, has yet to be validated by any well-designed scientific study.

By now, that so-called Tommy John surgery for a torn or damaged UCL has become a rite of passage for the top-flight professional baseball pitcher is a cliche of sports punditry. Every young arm that can fold and then unfold itself into tortuous patterns that facilitate throwing baseballs at 95 miles per hour or faster is bound for the knife, once those upper body contortions inevitably tear the tissue on the inside of their elbows connecting their upper and lower arms, the UCL.

The first Tommy John surgery (or more properly, UCL reconstruction) was performed in 1974 by the orthopedic surgeon Frank Jobe, then the team physician for the Los Angeles Dodgers, on the eponymous pitcher. It was a great success; Tommy John came back to pitch 14 more years in the pros, racking up 164 wins with four different teams.

TJ surgery is fairly straightforward: the connective tissue that makes up the UCL is either replaced with a tendon taken from elsewhere in the patients own body or from the donated tissue of a cadaver.

Nevertheless through the mid-1970s and into the 80s, TJ was something of a rarity; just a handful of baseball players underwent that particular knife. In the 1990s the numbers started to tick up, and then in the 2000s, they exploded. From 1995 to 2005, there was an average of 28 TJ surgeries per year across all levels of pro baseball; from 2005 to 2015, there was an average of 84 TJ surgeries per year.

Then something strange happened. In 2016, the total number of TJ surgeries performed dropped to 90, from 127 the year before, a 30% decline. Only one other year in Tommy John history, 2008, saw such a precipitous drop from the previous year. By 2009, TJ numbers were back to 2007 levels; obviously it remains to be seen whether 2017 will look more like 2015 or more like last year. But the data suggest that if TJ surgery numbers are in fact starting to trend downward, it might have something to do with the rise of stem-cell therapy.

What makes stem cells unique is that they are whats called undifferentiated; they can become other specialized cells depending on the bodys need at the time. There are two types of human stem cells, embryonic and adult. Embryonic stem cells come from a very early-stage embryo; these are what you likely think of when you hear the term stem cellstheyre at the center of one of most exciting fields of medical science research today. Embryonic stem cells are now used or are being studied for a shockingly wide range of applications, from Alzheimers and autism to vision impairment and infertility. However, thanks to the religious right-driven opposition to the harvesting, study, and use of embryonic stem cells, theyve been mired in controversy in the US.

On the other hand, the use of adult stem cellswhich can be harvested from bone marrow, fat, or blood of any person of any age (the name is a bit misleading)is widely accepted by both the medical community and politicians. They have less range, so to speak, than embryonic stem cells; they are primarily to repair and replace damaged tissue in the area they are found. That makes them just about perfect for repairing a torn UCL.

The first pro baseball player known to have undergone stem-cell therapy for a UCL weakness was Bartolo Colonand he was basically forced into talking about it. Following a long run of success culminating with a Cy Young Award season in 2005, Colon had four frustrating years racked with injury and ended up unsigned after 2009. He took a year off to recuperate and in spring of 2011, he was back, signed with the New York Yankees and feeling good. Serge Kovaleski, an investigative reporter with the New York Times, started digging into how Colon had made his comeback, and uncovered the name of Joseph Purita, an orthopedic surgeon and stem-cell therapy pioneer.

As Purita tells it, there was nothing illegal or nefarious about the work hed done on Colon; there was just never a plan to broadcast it, either. Then, he recalls, the Times called me up and said were going to write a story whether or not. So, Purita offered details. In April 2010, he told the paper, a team of Dominican doctors used stem-cell therapy to help repair Colons ligament damage and torn rotator cuff.

Colons recovery was a resounding success. Hes been an all-star twice, is the current active leader in major league wins, and, at age 44, is signed to a $12.5 million contract to be the Atlanta Braves number two starter for the 2017 season.

I cant give names but there are some professionalsBut instead of thrusting stem-cell therapy into the mainstream, the Colon incident forced it to stay underground. The treatment was not well understood at that point, and the circumstancesthat it was done offshore, that it was unearthed by investigative reporting, and that, in 2012, Colon was suspended for 50 games for testing positive for testosterone useclouded public opinion on it. Many were convinced Colon had gotten performance-enhancing drugs in the Dominican Republic. Purita denies this vociferously, and MLB inquiries back him up.

The upshot is that every doctor I spoke to who studies and performs stem-cell therapy for torn-ligament repair says some version of the same thing: I cant give names but there are some professionals who have come in for treatment, says Joshua Dines, an orthopedic surgeon at New Yorks Hospital for Special Surgery, and an assistant team physician for the New York Mets.

Purita says that since Colon, hes worked with some players that had team approvaland some just come on their own, but none wanted to go public about the procedure.

If use of your arm is mostly limited to spreadsheet jockeying and lifting forkfuls of pasta or salad from plate to maw, TJ is no big dealin that case, youre ready to go back to work in six weeks. But if you throw a ball at top speed past another pro athlete for a living, youre going to be out of commission for 18 months or more as you regain strength in your money arm.

And money is the (post) operative word. In 2016 alone, MLB teams lost nearly $60 million in player value because they had to fulfill dozens of contracts of players recovering from Tommy John. Thats nearly enough to field an entire pro teamdefinitely enough to roster a top-of-league pitching staff. And that $60 million doesnt come close to accounting for the losses suffered by players who had to undergo the knife during the last year of a contract, and found themselves released by their previous teams with no new offers on the table while they recovered.

There was never going to be a way to prevent the need for Tommy John surgeries. Baseball players throw far too hard, with far more breaking pitches, starting at far too young an age, to realistically stop UCLs from tearing (though all sports medicine experts do now warn coaches and parents to keep kids and teens at low pitch counts). The alternative was always going to be something that could cure ligament tearsbut better than TJ surgery, with a faster recovery time.

Everything weve seen in the past decade or so suggests stem-cell therapy is exactly that. At this point, platelet-rich plasma (PRP) injections are common first-line defenses against UCL injuries. The procedure entails harvesting PRP from the player and injecting it into the injured part of the body. PRP is dense with proteins specialized for injury repair.

You can think of these injections as a precursor to stem-cell therapy; both are considered biologic treatments and entail wielding the bodys own weapons against injury. Many of the doctors now doing stem-cell therapy started off with PRP procedures. When baseball players have a torn ligament, they typically try PRP first. If that fails, its Tommy John time.

Everyone in the field says that at this point PRP is last decades technologyExcept, everyone in the field says that at this point PRP is last decades technology, more than ready to be replaced by stem-cell therapy, which does much the same thing but better. Adult stem cells essentially are there for the very purpose of tissue repair. Why not take them from a part of the body thats all good, and send them to a region where reinforcements are desperately needed?

Dines says that in his own practice, hes been able to cut down the need for Tommy John surgery by about a third, thanks to his reliance on stem-cell therapy. He doesnt believe that the procedure will lower the number of players that have to have TJ, but it will limit the number of overall TJ surgeriesbecause at this point, many pitchers have to get the surgery twice in their career. Dines says stem-cell therapy can get 15- or 16-year-old pitchers through their first partial tear. They may still need to get a full TJ surgery by age 24, but avoiding that first one is still a huge victory. (A growing number of middle-age first-time TJ patients could also explain the overall drop in Tommy John surgeries.)

Purita is even more optimistic. While most orthopedic surgeons say that, right now, stem-cell therapy is effective on partial, but not full, ligament tears, Purita is confident his version can handle any UCL. He sent Quartz a photo showing a patientan MLB pitcher who wishes to remain anonymous, Purita sayswho had a full UCL tear in November 2011 and, after receiving stem-cell therapy at Puritas clinic, made a full recovery by February 2013.

You never say something replaces something else entirely, Purita says. Stem-cell therapy is not going to replace every case [of Tommy John], but it could probably replace the majority of cases.

Talk to anyone who knows the field and theyll rattle off the same reasons why stem-cell therapy for UCL tears isnt already the standard of care: One reason is that, relative to the population, the number of UCL tear patients is extremely small, which means theres only a tiny pool from which to draw potential study participants. Two, a trial for a new medical treatment is typically only considered well-designed if the subjects are blindthat is, they dont know if they are getting the real treatment or a placebo. But what kind of team or player is going to risk a million-dollar arm on a properly designed study where theres a 50% chance that the injury gets a placebo?

Thats not to say that this is some sort of back-alley procedure. Its performed by some of the most prestigious orthopedic surgeons and medical research centers in the US, and the US Food and Drug Administration approves its use: US doctors are allowed to harvest a persons stem cells and use those cells to treat that same person, as long as you dont manipulate (e.g. genetically modify) the cells.

Someone making $20 million a year is not going to do something he hasnt checked out wellThe lack of literature on the procedure hasnt exactly inspired the confidence of players and teams to go public with their decision to pursue it; nor does the fact that the procedure for years had, as Dines puts it, a bad rap[it] would get lumped in with things that were illegal. There was this specter of cheating. But Dines, and others, say thats changing.

The needle is moving towards this being a valid way of treating things, says Purita. People are starting to recognize that someone making [or risking] $20 million a year is not going to do something he hasnt checked out well.

Amadeus Mason, a sports medicine and biologics expert at Emory University, compares stem-cell therapy today to Tommy John in the 1980s. It was, Okay, were going to try this and see, says Mason, who trained with orthopedic surgeon James Andrews. (Andrews is the Michael Jordan of ligament repairhes saved the arms and careers of some of the greatest pitchers in major league baseball history.) There wasnt a big fanfare going in when players started with Tommy John surgeries, Mason says, but when players came back to pitch [there] was. Same thing here.

Mason thinks stem-cell therapy hasnt quite reached the inflection point, but it is near. Here, too, he sees a comparison with Tommy John: It took a while for them to perfect the procedure so that more and more doctors could do the surgery and reproduce the results well.

Right now, Mason says, there is a relatively small handful of doctors who can do stem-cell therapy for UCL tears, but that list is growing rapidly. For example, the annual conference of the Orthobiologic Institutea professional organization for regenerative medicine researchers and practitionersstarted in 2009 with 20 or so doctors; last years event had nearly 1,000.

Some players can throw faster after they have the surgeryThe Angels didnt want to talk to me about why they decided to go public with Heaney and Richards stem-cell therapies. Perhaps thats because Heaneys, on May 2, 2016, was unsuccessful. The 25-year-old former first-round draft pick underwent Tommy John surgery in July of that year after failing to regain strength in his left arm. Hell miss the entire 2017 season, setting back a promising young career.

Richards had his stem-cell procedure just 14 days after Heaney. So far, it seems to have worked. He didnt return to pitch in 2016, but in spring training this year, he was throwing nearly 100 miles per hour. Probably the Angels best starting pitcher, Richards will take the mound on April 5, and all eyes will be on his right throwing armand on his face, to see if it is registering any pain.

If Richards stays healthy this yearand next year, and the year after thathe could become something like the 21st-century Tommy John. Every team will have a stem-cell therapy expert on its medical staff, or at least one on speed dial. Careers will be saved, and so will millions of dollars.

But wider use of stem-cell therapy also will force the MLB to confront an interesting potential side effect of the procedure. Some players can throw faster after they have the surgery, says Purita. By definition, its making the performance better. Right now, major league baseball does not include stem-cell therapy in its list of banned performance enhancers (pdf). But what happens when a baseball player, perhaps a fringe pitching prospect in the low minors, feels some elbow pain one day and gets an MRI, and is diagnosed with nothingbut decides to get stem-cell therapy anyway, since it could give him an extra four miles per hour on his fastball?

The MLB will have a decision to make: To accept potential competitive imbalances to save young arms, or to seek to preserve a level playing field (or even just the fiction of one) at the cost of some of the games best players. The question is all but inevitable.

Continue reading here:
Stem-cell therapy is poised to disrupt the Tommy John epidemic in baseball - Quartz

Recommendation and review posted by sam

A small, but promising study suggests that stem cells from a childs own cord blood may offer an effective treatment for autism symptoms.

Most children on the spectrum who received an infusion from their own umbilical cord blood showed improvements in behavior, communication and socialization, among other measures, while experiencing no significant downsides from the treatment.

The findings come from a study of 25 kids with autism ages 2 to 5 published Wednesday in the journal Stem Cells Translational Medicine.

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All of the children who participated in the research had their cord blood banked at birth. For the trial, the kids were given a series of behavioral and functional assessments before receiving a one-time cord blood infusion. Follow-up assessments were conducted at six and 12 months after the infusion.

Not only did the researchers find that the treatment was safe, but parent reports as well as clinical assessments indicated that more than two-thirds of the children saw improvements in autism symptoms.

Most of the behavioral gains were seen in the first six months after the infusion, the study found, but they were sustained over the following six months.

We are pleased that this study demonstrated the safety of treating children with ASD with their own cord blood, said Joanne Kurtzberg, a pediatric bone marrow transplant specialist at Duke Health who worked on the study. Were also encouraged that, while small and non-randomized, there were observed improvements in a majority of the children reported by clinicians and parents.

While the findings are encouraging, researchers said that further study involving more participants is needed before any firm conclusions can be reached about the effectiveness of cord blood infusions.

We are now hoping to replicate these preliminary results in a Phase II randomized clinical trial for which enrollment is nearly complete, Kurtzberg said.

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Stem Cells Show Promise For Treating Autism - Disability Scoop

Recommendation and review posted by simmons

No two stem cells are identical, even if they are genetic clones. This stunning diversity is revealed today in an enormous publicly available online catalogue of 3D stem cell images. The visuals were produced using deep learning analyses and cell lines altered with the gene-editing tool CRISPR. And soon the portal will allow researchers to predict variations in cell layouts that may foreshadow cancer and other diseases.

The Allen Cell Explorer, produced by the Allen Institute for Cell Science in Seattle, Washington, includes a growing library of more than 6,000 pictures of induced pluripotent stem cells (iPS) key components of which glow thanks to fluorescent markers that highlight specific genes.

The Cell Explorer complements ongoing projects by several groups that chart the uniqueness of single cells at the level of DNA, RNA and proteins. Rick Horwitz, director of the Allen Institute for Cell Science, says that the institutes images may hasten progress in stem cell research, cancer research and drug development by revealing unexpected aspects of cellular structure. You cant predict the outcome of a football game if you know stats on all the players but have never watched a game.

The project began about a year ago with adult skin cells that had been reprogrammed into an embryonic-like, undifferentiated state. Horwitz and his team then used CRISPRCas9 to insert tags in genes to make structures within the cells glow. The genes included those that code for proteins that highlight actin filaments, which help cells to move and maintain their shape. It quickly became clear that the cells, which were all genetic clones from the same parent cell, varied in the placement, shape and number of their components, such as mitochondria and actin fibres.

Computer scientists analysed thousands of the images using deep learning programs and found relationships between the locations of cellular structures. They then used that information to predict where the structures might be when the program was given just a couple of clues, such as the position of the nucleus. The program learned by comparing its predictions to actual cells.

The deep learning algorithms are similar to those that companies use to predict peoples preferences, Horwitz says. If you buy a chainsaw at Amazon, it might then show you chain oil and plaid shirts.

The 3D interactive tool based on this deep learning capability should go live later this year. At the moment, the site shows a preview of how it will work using side-by-side comparisons of predicted and actual images.

Benjamin Freedman, a cell biologist at the University of Washington in Seattle, looks forward to playing with the Cell Explorers predictive function once the Allen Institute team has taught their algorithm to recognize more iPS cells that have been changed genetically or chemically. For example, Freedman says he could delete a gene related to kidney disease in one of the fluorescently tagged stem cells from the Allen Institute and see how the mutation affects the glowing structure. Then he could use the sites modelling tool to determine how other cellular components might be altered. Ultimately, Freedman says, we want to understand processes at the cellular level that cause disease in the kidney as a whole.

In the coming months, Allen Institute researchers will update the site with images of stem cells at different stages of cell division, and as they transform into distinct cell types, such as heart and kidney cells. Catching cells at different time points can be crucial to identifying fundamental processes, says Horwitz.

Allen Institute for Cell Science

Structural differences in the DNA (purple) and cellular membrane (blue) of genetically identical stem cells.

The Allen Institutes visual emphasis on stem cells dovetails with a number of efforts to catalogue other aspects of cells. For example, the London-based charity Cancer Research UK is creating interactive virtual-reality models of breast cancer cells in tumours. And an international effort called the Human Cell Atlas seeks to define all human cell types in terms of their molecular profiles, including DNA sequences, RNA transcripts and proteins.

Aviv Regev, a computational biologist at the Broad Institute in Cambridge, Massachusetts, who is working on the Human Cell Atlas, says that the Allen Cell Explorer complements her project by focusing on the look of cellular features as opposed to how genes, RNA and proteins interact within the cell. The community is accepting that there are a lot of differences between cells that we thought were the same until recently, she says, so now were taking an unbiased approach to learn about pieces in the puzzle we didnt know existed before.

Read more:
Machine learning predicts the look of stem cells - Nature.com

Recommendation and review posted by Bethany Smith

Ive always had dry skin, but for several years now, that annoying parchedness has given way to flaky, pink patches on both of my cheeks that a dermatologist dubbed mild rosacea. Im half Irish, and so developing the skin condition sometimes referred to as the curse of the Celts isnt all that surprising. But damn, is it annoying. Most mornings, it looks like I used a Brillo pad for a pillow.

Like anyone with fussy skin, I tried a long list of creams and gels to calm down those angry pink spots, including Mirvaso (which fixed the discoloration temporarily but did nothing to heal the dryness), and a sulfur treatment that caused my entire face to break out in tiny bumps. (Turns out, Im allergic. Fun!) Id finally resigned myself to Aveenos Ultracalming Moisturizer which worked okay, but didnt give me the smoothness Id hoped for when Corey at a Sephora on the Upper West Side changed my face life.

I explained to Corey, who had the kind of dreamy skin and eyelashes a girl can only dream of, that I needed a creamy foundation that would cover any red spots on my wedding day. He shook his head. You need something that is going to sooth your skin, and then we can talk foundation. He left me by a row of lipsticks and returned with a jar of Peter Thomas Roths Stem Cell Bio-Repair Gel Mask. I use this all the time, he told me. Put it on for ten minutes after you take a shower, wash it off, and then slather your face with moisturizer.

I was in no position to argue with this perfect-skinned man. I bought the gel, and a jar of Drunk Elephants Lala Whipped Cream moisturizer, and went home expecting well, not much. But then, as instructed, I cleansed my face with semi-cold water, dried it off, and applied a thin layer of the pink gel mask which is cool to the touch and has the slightest rose scent. And holy hell. After one application, my skin already felt smoother.

Ive been using the gel several times a week for a month now, and my skin is no longer flaking. Theres some pinkness, but less and my face is visibly less dry. I cant say I buy into the fact that plant stem cells are working magic on me (doubts have been raised about such claims), but the gel does live up to its promise of hydrating skin and combating dullness which could be thanks to a combination of natural oils and the fact that the mask itself feels as cool and redness-taming as an aloe gel. Sure, Im not quite Corey level yet, but my face has a noticeable glow to it that it hasnt had in years. Whats more, the mask is free of parabens, sulfates, and phthalates, and it doesnt irritate my sensitive skin.

If you really want the ultimate cooling effect, you can stick the jar of gel in the fridge and leave it on overnight. (The gel dries in less than a minute, so you wont be sleeping in goo.) Im not that hard core, and grabbing it right out of my medicine cabinet after showering has been working fine for me. On my wedding day, the makeup artist even commented on how soft my skin was, and my foundation laid on just right. I told her about the gel and what my face was like before. Sounds like a miracle worker, she said. Amen.

Peter Thomas Roth Rose Stem Cell Bio-Repair Gel Mask $52, Sephora

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This Pink Gel Mask Saved My Dry, Flaky Skin - New York Magazine

Recommendation and review posted by sam

Associate professor Dr. Philipp Koch, Dr. Julia Ladewig and Vira Iefremova. Credit: Barbara Frommann/Uni Bonn

A new method could push research into developmental brain disorders an important step forward. This is shown by a recent study at the University of Bonn in which the researchers investigated the development of a rare congenital brain defect. To do so, they converted skin cells from patients into so called induced pluripotent stem cells. From these jack-of-all-trades cells, they generated brain organoids small three-dimensional tissues which resemble the structure and organization of the developing human brain.

Investigations into human brain development using human cells in the culture dish have so far been very limited: the cells in the dish grow flat, so they do not display any three-dimensional structure. Model organisms are available as an alternative, such as mice. The human brain has, however, a much more complex structure. Developmental disorders of the human brain can thus only be resembled to a limited degree in the animal model.

Scientists at the Institute of Reconstructive Neurobiology at the University of Bonn applied a recent development in stem cell research to tackle this limitation: they grew three-dimensional organoids in the cell culture dish, the structure of which is incredibly similar to that of the human brain. These mini brains offer insight into the processes with which individual nerve cells organize themselves into our highly complex tissues. The method thus opens up completely new opportunities for investigating disorders in the architecture of the developing human brain, explains Dr. Julia Ladewig, who leads a working group on brain development.

Rare brain deformity investigated

In their work, the scientists investigated the Miller-Dieker syndrome. This hereditary disorder is attributed to a chromosome defect. As a consequence, patients present malformations of important parts of their brain. In patients, the surface of the brain is hardly grooved but instead more or less smooth, explains Vira Iefremova, PhD student and lead author of the study. What causes these changes has so far only been known in part.

The researchers produced induced pluripotent stem cells from skin cells from Miller-Dieker patients, from which they then grew brain organoids. In organoids, the brain cells organize themselves very similar to the process in the brain of an embryo: the stem cells divide; a proportion of the daughter cells develops into nerve cells; these move to wherever they are needed. These processes resemble a complicated orchestral piece in which the genetic material waves the baton.

In Miller-Dieker patients, this process is fundamentally disrupted. We were able to show that the stem cells divide differently in these patients, explains associate professor Dr. Philipp Koch, who led the study together with Dr. Julia Ladewig. In healthy people, the stem cells initially extensively multiply and form organized, densely packed layers. Only a small proportion of them becomes differentiated and develops into nerve cells.

Certain proteins are responsible for the dense and even packing of the stem cells. The formation of these molecules is disrupted in Miller-Dieker patients. The stem cells are thus not so tightly packed and, at the same time, do not have such a regular arrangement. This poor organization leads, among other things, to the stem cells becoming differentiated at an earlier stage. The change in the three-dimensional tissue structure thus causes altered division behavior, says Ladewig. This connection cannot be identified in animals or in two-dimensional cell culture models.

The scientist emphasizes that no new treatment options are in sight as a result of this. We are undertaking fundamental research here. Nevertheless, our results show that organoids have what it takes to herald a new era in brain research. And if we better understand the development of our brain, new treatment options for disorders of the brain can presumably arise from this over the long term.

Reference:

Iefremova, V., Manikakis, G., Krefft, O., Jabali, A., Weynans, K., Wilkens, R., . . . Ladewig, J. (2017). An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in Wnt Signaling Contributing to Miller-Dieker Syndrome. Cell Reports, 19(1), 50-59. doi:10.1016/j.celrep.2017.03.047

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

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'Mini Brains' Developed to Study Miller-Dieker Syndrome ... - Technology Networks

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Who would have ever thought that some forms of blindness could be repaired? Ian MacDonald is a pioneer in gene therapy as a treatment of genetic eye diseases. The ophthalmologist will be one of two external speakers at the Alberta Childrens Hospital Research Institute (ACHRI) symposium Wednesday, April 19 at the Foothills Campus. MacDonald, a professor in the Department of Opthalmology and Visual Sciences at the University of Alberta, will speak on Novel Therapeutic Approaches to Human Disease The Example of Ocular Gene Therapy. We spoke to him briefly about his research.

Q: Why are ocular diseases at the forefront of precision medicine?

A: The eye is an attractive target for precision medicine and gene therapy as it offers a readily accessiblesite for surgical intervention and injection, is relatively immune-privileged, andtreatment of only one eye allows the non-treated eye to serve as a control for the experimental therapy.

Q:Is this the right time to pursue research in precision medicine?

A: Now is definitely the right time to pursue research in precision medicine. Phenotyping in human ocular heritable disease is advanced and we can now make clinical decisions backed up by molecular genetic confirmation. With new tools ofnext generation sequencing, we have a lot to offer in terms of precision medicine to our patients and families.

Q:How important is basic research to your accomplishments?

A:The first ocular gene therapy trial for choroideremia was based on the products of 30 years of scientific research (somein Canada, including mapping the gene in 1987). It simply could not have occurred without solid pre-clinical research, a team of informed and talented researchers, and significant infrastructure and research support from national (CFI, CIHR, FFB Canada, Choroideremia Research Foundation, Canada Inc.) and provincial (AIHS) funding agencies.

Fruit flies model how human traits are passed on

Trudy Mackay is a distinguished scientist specializing in quantitative genetics. Her research relies on the fruit fly an insect that has provided scientists the means for biomedical research and discovery for over 100 years. Mackays work has allowed researchers across the world to understand the genetic traits crucial to plant, animal and human health. A fellow of the Royal Society and the National Academy of Sciences, Mackay was awarded the 2016 Wolf Prize Laureate for Agriculture, widely considered one of the most prestigious prizes in science. She is now at North Carolina State University. Mackay will speak on The Genetic Architecture of Complex Traits: Lessons From Drosophila. We also spoke to her briefly about her research.

Q:Is fruit fly DNA much different from ours?

A:The fruit fly genome is about 10 times smaller than the human genome. However, and perhaps surprisingly, about two-thirds of fly genes have a human counterpart, and 70 per cent of human disease genes have a fruit fly counterpart. Thus, flies are a good genetic model for quantitative traits, including diseases, in humans.

Q:The first human genome was sequenced in 2003. How much more complex are human genes than originally thought?

A:The first human genome sequence was surprising in that many fewer genes were present than experts had predicted. We now know that regulatory component of the human genome is at least as important as the protein coding genes, and deciphering the regulatory code is an active area of research.

Q:How important is precision medicine to our future and health care of children?

A:Precision medicine is "an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person." Precision medicine has the promise to revolutionize future heath care by using genetic and genomic data to optimize individual disease risk assessment and therapy.

UCalgary and ACHRI researchers to present at symposium

The symposium will also hear from University of Calgary and ACHRI researchers:

Information on registration to attend the Alberta Childrens Hospital Research Institute Symposium on Precision Medicine in Child Health and details on the program agenda are available on the ACHRI website.

The Alberta Childrens Hospital Research Institute (ACHRI) symposium is an annual event supported by generous community donations through the Alberta Childrens Hospital Foundation. The research day highlights leading child health research from pre-conception to early adulthood. The day consists of presentations from external and internal speakers and a poster competition, TED Talks and presentations from ACHRI trainees. The symposium concludes with presentation and poster awards from ACHRI Director Dr. Brent Scott.

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World-renowned scientists to speak at Precision Medicine in Child Health research day - UCalgary News

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Early efforts to harness the potential of stem cells for treating disease were largely focused on regeneration and the ability to repair tissues in the body through cell therapies. However, as technologies have advanced, the focus is shifting to using stem cells in drug discovery applications, such as compound screening, toxicity testing, target identification, and disease modelling. Professor Christine Mummery, from the University of Leiden tells us more and explains why stem cells are particularly suited to these applications.

Why use stem cells?

What is it that makes stem cells such an attractive option for drug discovery studies? One of the main reasons is that they make a much better model of human disease and drug reactions than animal models. As Professor Christine Mummery explains, many commonly used animal models such as mice do not accurately reflect some of the workings of cells and processes in the human body, having different immune systems and characteristics, such as heart rate, for example. This can result in problems with drugs falling down in clinical trials after showing promising results in earlier animal studies.

Using more relevant models provides not only financial savings by highlighting issues earlier in the drug discovery pipeline, but also helps efforts to reduce the number of animals used in research.

Stem cells in toxicity testing

A vital part of determining a drugs safety is assessing its cardiac toxicity. This refers to the side effects a drug can have on the functioning of the heart, such as causing arrhythmias and sudden death. As well as ensuring the safety of a drug, however, there is also a need to not unduly constrain drug development. Improvements in assay design and the implementation of the Comprehensive in Vitro Proarrhythmia Assays (CiPA) are helping to find a balance in this area.

Professor Christine Mummery tells us more about the problem of cardiotoxicity and how stem cell models and CiPA can help.

Stem cells can also play a role in testing the systemic toxicity of drugs. As Dr Glyn Stacey from NIBSC explains, pluripotent stem cell lines are increasingly being used to develop new assays that enable earlier identification of drugs that can have chronic effects on the body.

Endogenous activation of stem cells A novel and promising area of currently developing research is the ability to drive regeneration endogenously using small molecules. As Professor Angela Russell from the University of Oxford describes in the following video, we might not need to rely on using stem cells themselves, but rather small molecule therapeutics that can promote repair in damaged tissues. Circumventing the need for cells could have huge benefits for both the patient and drug developers.

What are some of the hurdles?

Stem cells certainly provide numerous opportunities to accelerate the drug discovery field, but challenges do remain.

A fundamental issue faced by all researchers in this field is ensuring the quality of the cells used. As Dr Glyn Stacey explains, a good level of quality control needs to be maintained throughout, to ensure that cells have not been contaminated or mixed up with another cell line.

Understanding signalling pathways and knowing which growth factors to add to push cells to develop into progenitor cells can also present challenges to researchers developing stem cell based screening assays. Producing sufficient numbers of relevant cell types to conduct a screen is another problem commonly faced.

The final hurdle is translation to the clinic, which relies on proving the safety of a treatment, and ensuring that it does not give rise to secondary conditions. In the case of Professor Angela Russells work, this involves taking careful steps to select compounds that act through correct pathways that wont increase the risk of cancer developing.

What does the future hold?

The roles that stem cells play in the drug discovery process are likely to continue to increase, as developments in technology enable the creation of a wider range of cells and assays. A move towards using cells with greater maturity and models that incorporate a combination of different cell types, enabling the study of interactions between cells is on the horizon. These combinations of cells will teach us a lot about drug discovery and disease, says Professor Christine Mummery.

All interviews from Stem Cells in Drug Discovery 2017 can be found here.

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Stem Cells in Drug Discovery | Technology Networks - Technology Networks

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Eddie Marks is the pioneer in the University of Delaware Department of Medical Laboratory Sciences. Hes the first Ph.D. graduate in program history.

Having completed a professional masters degree in business/biotechnology at UD, Marks jumped at the opportunity of a fledging Ph.D. in the medical sciences program. Of course, Marks was interested in the programs core courses like statistics, immunology and physiology, but the department also granted the aspiring researcher a great deal of independence.

There is a lot of freedom to be able to choose, which is what I really liked coming in, explained Marks, who researches how adult bone narrow stem cells can treat heart attacks. I took a biology ethics course and a materials science course, which, by learning some of the engineering, really helped to further my research.

With a microbiology background, Marks was used to growing cells and working under a microscope, which eased his translation into the field. He was motivated by his adviser Arun Kumar, who also took an interdisciplinary route. Kumar took an organic chemistry background and applied it to nanomedicine. As a masters students, Marks was tapped to work on a stem cell project with Kumar. He took the preliminary data and worked on turning the stem cells into tissue types.

But research is far from Marks only talent. Elsevier Health reached out to Kumar about a book on thymosins, a protein class with diverse biological activities. Kumar and Marks had used one of these thymosin proteins specific to the heart thymosin beta-4 to turn stem cells into heart tissue. So the pair drafted a book chapter on how this protein helps heal our most vital internal organ.

We looked at [the proteins] role in development as the heart is growing, its natural effects after a heart attack, how the protein gets released and how we and other researchers use it to attempt to heal the heart after certain cardiac events, said Marks.

Earlier this month, Marks successfully defended his dissertation Adult Human Bone Marrow Mesenchymal Stem Celled Primed for the Repair of Damaged Cardiac Tissue after Myocardial Infarction. Half of the numbered chapters of the dissertation were published or are currently under review in scientific journals. Each of the six chapters of the dissertation is a paper to be published.

With his Ph.D. in hand, Marks is headed to private industry, which could mean consulting or science writing.

I want to be client-facing and help an array of companies.

Combining the time spent on the masters and Ph.D. program, Marks completed the two degrees in only five and a half years. Around the country, the typical student finishes similar programs between six and eight years time. He credits the department for the unique program design and streamlined process.

The department is very connected to the hospital [Christiana Care] and has a good reputation at the University, said Marks. The faculty knows every group from biology to engineering to the Life Science Research Facility and down to STAR Campus. There are connections everywhere. My dissertation committee had incredibly varied areas of expertise and that would not happen without Medical Laboratory Sciences.

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First Ph.D. recipient - UDaily

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Around 6,000 hematopoietic stem cell transplantations are carried out annually in Iran using the patients own cells, and a far higher number are performed using cells from donors who are often close relatives of the patient, according to the Hematology-Oncology Research Center and Stem Cell Transplantation (HORCSCT) affiliated to the Tehran University of Medical Sciences. Ardeshir Qavamzadeh, head of the center, said the number of stem cell transplants is on par with developed countries. The success rate in the treatment of diseases requiring transplant is 67% at HORCSCT, ISNA quoted him as saying. Referring to the fast and progressive development of stem cell discipline in Iran, he said since 1983, when the adult leukemia specialty was initiated in the country, nearly 300 specialists have been trained in the field and there is at least one specialist in each province now. Today, one cannot find a treatment method of stem cell transplant in the worlds advanced research centers that is not available or practiced in Iran. We have reached a level where we can compete with the developed nations. HSCT Hubs There are 10 hubs for hematopoietic stem cell transplant (HSCT) in the country. Each includes medical universities from the provinces with one as the focal point. Medical universities of Zanjan, Qazvin, Alborz and Qom comprise one of the hubs with Zanjan as the center, said Mehdi Eskandari, education deputy at Zanjan University of Medical Sciences. HSCT is the transplantation of multi-potent hematopoietic stem cells, usually derived from bone marrow, peripheral blood, or umbilical cord blood. It may be autologous (when the patients own stem cells are used) or allogeneic (stem cells from a donor). It is a medical procedure in the field of hematology, most often performed for patients with certain cancers of the blood or bone marrow, such as multiple myeloma or leukemia. Since HSCT is a relatively risky procedure with many possible complications, it is reserved for patients with life-threatening diseases. However, as the survival rate following the procedure has increased, its use has expanded beyond cancer, including in autoimmune diseases, blood diseases like thalassaemia major, metabolic disorders, alcoholic liver, and even rheumatism.

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Stem Cell Transplant Making Rapid Progress - Financial Tribune

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Three Bangladeshis suffering from a highly debilitating muscular dystrophy, who arrived in Mumbai on Sunday have begun their treatment at a Navi Mumbai spine clinic.

Abdus, Rahinul and Shorab aged 24, 14 and 8 respectively were diagnosed with this crippling disease at the time of their birth.

They arrived on Sunday evening and we started the treatment on Monday, said Avantika Patil, spokesperson NeuroGen Brain and Spine Institute in Seawoods, Navi Mumbai, who is treating them for free.

They are undergoing an autologous bone marrow derived stem cell treatment. Stem cells are taken from the bone marrow in their hip bone, treated in our lab and then injected into to the patients again. We will provide a combination of stem cell therapy and neuro-rehabilitation which will also includes yoga and speech therapy sessions, Patil explained.

While the hospital is not willing to say what kind of progress can be expected in these particular cases, they revealed that in one case, a bed-ridden patient was able to walk slowly after six years of treatment.

In January, fruit seller Tofazzal Hossain sparked a rare debate about euthanasia in conservative Bangladesh in January when he pleaded with the authorities to allow his grandson and two sons to die.

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Stem cell treatment begins for dystrophy patients from Bangladesh - Daily News & Analysis

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Image courtesy UP Health System - Marquette.

Image courtesy UP Health System - Marquette.

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April 4, 2017 - MARQUETTE - UP Health System Marquette will host a bone marrow registry drive on April 12th, 2017 on the 3rd floor of the North Entrance to the hospital.

Every four minutes, someone is diagnosed with a blood cancer in the US. For thousands of patients with leukemia or other blood diseases like sickle cell anemia, a marrow transplant is their only hope.

Joining the bone marrow registry takes roughly 10 minutes of paperwork and a cheek swab. Only 1 in 430 registry members go on to donate.

If you match with a patient in need, you will receive a phone call asking to donate. Donation is always voluntary. Surgery is not always required for bone marrow donation; almost 80% of donors donate their blood stem cells in a non-surgical procedure that is very similar to donating plasma.

Please note that UP Health System - Marquette is not affiliated with the National Marrow Donor Program or the Be The Match organization. Our presence here will be to help facilitate and educate those interested in joining the Be The Match registry.

Be The Match is operated by the National Marrow Donor Program (NMDP) which manages the largest and most diverse marrow registry in the world, working to save lives through transplant.

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Bone Marrow Registration Drive to be held at UP Health System - UPMatters.com

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LORENA, Texas (KWTX) Lorena residents and others from around Central Texas turned out Monday to register as bone marrow donors in support of a first grade teacher with a rare medical condition, the only cure for which is a bone marrow transplant.

Melinda Colyer, who teaches at Lorena Primary School, was diagnosed with myelodysplastic syndrome with myelofibrosis about two weeks ago.

"It's actually a disease that causes the destruction of your stem cells in your bone marrow. They do consider it a form of cancer. The only cure that will be provided is through a bone marrow transplant, Colyer said.

She said receiving the news was tough, but she says shes a fighter.

I decided to pick myself up and was able to go forward and that's what I'm doing at this point, said Colyer.

Lorena Primary School Principal Liza Cunningham said Colyer shines with positivity despite the diagnosis.

"Ms. Colyer is one of the most upbeat people you will ever meet in your entire life. She always has a positive attitude, she has a love for kids. It's very apparent in everything she does, said Cunningham.

More than 100 prospective donors responded to the drive Monday at Midway High Schools Distance Learning Center.

The process takes less than five minutes, and involves a mouth swab to collect DNA samples.

Prospective donors must be in good health and between the ages of 18 to 44.

Anyone interested in becoming a bone marrow donor can sign up with Scott & Whites Marrow Donor Program.

"She wants everybody to go out and be tested because even if we are not a match for her, we would be a match for somebody else. And that's really what she's been telling us about this whole event and that's very selfless of her, Cunningham said.

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Lorena: Residents support teacher who needs bone marrow transplant - KWTX

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Mumbai, Apr 4 (PTI) Three Bangladeshi patients, suffering from an incurable muscular dystrophy, today underwent first stem cell therapy at a Navi Mumbai based treatment centre.

"We applied a simple therapy to the patients. We took out the stem cells from their bone marrow in the hip bone and after the required processing we injected it back into their body.

"We will wait for the results as to how they respond to such treatment. Meanwhile, physiotherapy and occupational therapy is being offered to them as well," Avantika Patil, coordinator between the patients and the treating centre told PTI.

Patil, is part of the team of NeuroGen, a brain and spine institute that keeps the track of its patients.

"We learnt about the patients through an article in an international newspaper and decided to contact them as we specialise in treating such diseases.

"I am also in contact with one Noor Khan from Bangladesh, an activist who helped the three patients to furnish documents and visa procedures," she said.

A Mumbai-based organisation specialising in such diseases, Meditourz, in collaboration with NeuroGen based in Navi Mumbai, offered to provide treatment to them.

The trio have been suffering from a rare disease Duchenne Muscular Dystrophy since their birth. This is a genetic disorder which causes progressive muscle degeneration and patients rarely live beyond 30 years of age, Patil said.

Among the three, Shorab (8 year old) is having a mild disorder and early medical intervention will definitely help in terms of less painful life. Compared to him, the disease is progressive in other two patients, she said.

Tofazzal Hossain, a fruit vendor from rural Meherpur in Bangladesh, had sought mercy killing for his sons - Abdus (24) and Rahinul (14) - and grandson Shorab from his government as he could not afford the cost of their treatment.

The Navi Mumbai based centre approached the three patients through Indian government and expressed willingness to provide treatment to the disease.

Air India also offered free round trip tickets to the six persons -- three patients and three caretakers accompanying them to Mumbai from Kolkata following an appeal from Alok Sharma, neurosurgeon at the NeuroGen.

"The three patients and the three persons accompanying them took this evenings Air India flight from Kolkata to Mumbai and will also return by an Air India flight after treatment - entirely free of any charges," Air India said in a statement. PTI ND RMT

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Three Bangladeshi patients undergo stem cell therapy in Mumbai - India Today

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Last week, a patient with blurry vision in his right eye walked into a doctors office and became the first person to receive reprogrammed stem cells from a donor to treat his age-related macular degeneration.

The patient a Japanese man in his 60s is not alone, as four other patients have been approved for the procedure by Japan's health ministry. The first medical case was reported on March 28 by Nature.

In a one-hour operation by surgeon Yasuo Kurimoto, the patient received skin cells from a human donor at Kobe City Medical Center General Hospital. The donors skin cells were reverse engineered into induced pluripotent stem (iPS) cells. These cells are often seen as a game-changer in the world of regenerative medicine as they have the ability to become almost any type of cell in the body.

In this case, the iPS cells were turned into retinal cells, which were then implanted into the retina of the patient, who has age-related macular degeneration. It is hoped the procedure will stop the progression of the disease, which can lead to blindness. The transplantis not being touted as a cure for the condition, merely a prevention methodfrom further damage.

During the procedure, the surgical team injected 50 microliters of liquid containing 250,000 retinal cells into the patients eye, according to the Japan Times. The real test, however, will be the next phase of monitoring.

What sets this transplant apart is also what makes the recovery process precarious. Doctors will need to keep a careful watch on the patient, as iPS cells from a donor are not a genetic match and could cause an immune rejection.

At this point, you might remember a similar case in 2014 with a Japanese woman at the same hospital. She also received retinal cells derived from iPS cells, however hers were taken from her own skin, not a donor's.

"A key challenge in this case is to control rejection," said Riken researcher Masayo Takahashi to the Japan Times. "We need to carefully continue treatment."

In an update, the team said the Japanese woman was doing well and her vision had not declined. They decided to change track and use donor cells for this study because it holds a more viable future for such transplants.

It's hoped, if all goes well here, that researchers can create a bank of donor stem cells. Such a future would cut down on costs and reduce wait times, as cultivating ones own cells can take several months. However, there's stillmuch to be done.

After the procedure, Takahashi told a press conference that the surgery went well. They will continue to monitor the situation and provide further updates in the future.

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Man Receives Reprogrammed" Stem Cells From Donor In Medical First - IFLScience

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Science Daily

Mini brains from the petri dish Science Daily The researchers produced induced pluripotent stem cells from skin cells from Miller-Dieker patients, from which they then grew brain organoids. In organoids, the brain cells organize themselves -- very similar to the process in the brain of an embryo ... and more »

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Mini brains from the petri dish - Science Daily

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Middle-aged and older men (50 years), especially those who are obese and suffer from comorbidities, not uncommonly present with clinical features consistent with androgen deficiency and modestly reduced testosterone levels. Commonly, such men do not demonstrate anatomical hypothalamic-pituitary-testicular axis pathology but have functional hypogonadism that is potentially reversible.

Literature review from 1970 to October 2016.

Although definitive randomized controlled trials are lacking, evidence suggests that in such men, lifestyle measures to achieve weight loss and optimization of comorbidities, including discontinuation of offending medications, lead to clinical improvement and a modest increase in testosterone. Also, androgen deficiency-like symptoms and end-organ deficits respond to targeted treatments (such as phosphodiesterase-5 inhibitors for erectile dysfunction) without evidence that hypogonadal men are refractory. Unfortunately, lifestyle interventions remain difficult and may be insufficient even if successful. Testosterone therapy should be considered primarily for men who have significant clinical features of androgen deficiency and unequivocally low testosterone levels. Testosterone should be initiated either concomitantly with a trial of lifestyle measures, or after such a trial fails, after a tailored diagnostic work-up, exclusion of contraindications, and appropriate counseling.

There is modest evidence that functional hypogonadism responds to lifestyle measures and optimization of comorbidities. If achievable, these interventions may have demonstrable health benefits beyond the potential for increasing testosterone levels. Therefore, treatment of underlying causes of functional hypogonadism and of symptoms should be used either as an initial or adjunctive approach to testosterone therapy.

The Journal of clinical endocrinology and metabolism. 2017 Mar 01 [Epub]

Mathis Grossmann, Alvin M Matsumoto

Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria 3081, Australia., Division of Gerontology and Geriatric Medicine, Department of Medicine, University of Washington School of Medicine, Seattle, Washington 98195; and.

PubMed http://www.ncbi.nlm.nih.gov/pubmed/28359097

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A Perspective on Middle-Aged and Older Men With Functional Hypogonadism: Focus on Holistic Management. - UroToday

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This study provides the first long term evidence of the safety and feasibility of utilizing a patient's own bone marrow concentrate stem cells to treat severe low back pain

Fort Collins, Colorado (PRWEB) April 03, 2017

Retired orthopedic spine surgeon, Kenneth Pettine, M.D. is excited to release the three year results of his bone marrow stem cell treatment study. Dr. Pettine has been a pioneer in the use of bone marrow concentrate stem cell injections. He was the first surgeon to inject biologics into the human spine as part of an FDA Study in the U.S. almost seven years ago. He has the only U.S. Patent on the method of treating orthopedic and spine pathology with a patient's own stem cells.

This study provides the first long term evidence of the safety and feasibility of utilizing a patient's own bone marrow concentrate stem cells to treat severe low back pain, said Dr. Pettine. Thats terrific news for patients who up until now only had the option of undergoing expensive and invasive back fusion or artificial disc surgery.

Degenerative disc disease is a common back pain diagnosis in the United States and affects millions of patients. The symptoms of the condition can become so painful that patients may be forced to miss work and are prevented from participating in regular daily activities. Treatment is often limited to palliative care such as chiropractic, physical therapy, narcotics, injections or invasive surgical procedures to try to decrease the daily chronic low back pain. Numerous studies have shown surgery improves back pain in the average patient only 40%. Stem Cell therapy improved the average patient 70% with long term follow up.

Dr. Pettines treatment uses a patient's own bone marrow concentrate stem cells to help reduce inflammation in the spine and stimulate the creation of new tissue in the spinal disc to help reverse the effects of the disease. The office procedure is performed with I.V. sedation and usually takes 45 minutes. The study noted that patients who received higher concentrations of stem cells in their injections saw a greater improvement in their back pain.. This three year follow-up research study shows utilizing a patient's own stem cells can provide long-term back pain relief and prevented the need for invasive surgery in 77% of the patients.

If you live in the Northern Colorado area and are experiencing neck or back pain due to degenerative disc disease, you can learn more about Dr. Pettines treatment and research by visiting his website at http://www.KennethPettine.com.

About Dr. Kenneth Pettine Dr. Pettine has been the principal investigator of 18 FDA studies about stem cells and their uses and is considered a pioneer in the field. He founded The Rocky Mountain Associates in Orthopedic Medicine in 1991 to offer patients a non-fusion surgical option for their neck and back pain. He co-invented the FDA-approved Prestige cervical artificial disc and the Maverick Artificial Disc. He is currently focused on the use of Mesenchymal stem cell therapy for patients desiring to avoid orthopedic or spine surgery. You can learn more about the therapy and Dr. Pettine at his website, http://www.KennethPettine.com.

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Northern Colorado Surgeon Releases Three Year Results of Bone Marrow Stem Cell Treatment - PR Web (press release)

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A new method of producing red blood cells outside the body on a large scale has been developed by researchers at the University of Bristol.

'We have demonstrated a feasible way to sustainably manufacture red cells for clinical use We've grown litres of it,' saidDr Jan Frayne, one of the authors of the research which waspublished in Nature Communications.

Previously the most effective technique involved taking stem cells from bone marrow, which makes blood cells in the body,and inducing them to do the same in lab conditions. This was of limited practical success because each stem cell will only make about 50,000 blood cells before dying by comparison, a few drops of blood can contain around one billion red cells.

Working with NHS Blood and Transplant, the Bristol team overcame this limitation by engineering the stem cells to make them 'immortal', using DNA. from the human papilloma virus (HPV) which causes cervical cancer. Red blood cells cannot continue to divide in the bloodstream, and as they mature they shed their nuclei and with it the virus DNA. Thus the adult cells that might in the future be given to patients, if the technique is applied in clinical trials, would not contain the any of the HPV genetic material.

'It's a brilliant approach, and they seemed to have solved several of the really important bottlenecks,' said Dr Robert Lanza, chief scientific officer at the Astellas Institute for Regenerative Medicine, who was not involved in the project.

The lab-grown blood is likely to be much more expensive than donated blood, but there may be a number of potential applications. Lab-grown blood could be used for patients with rare blood types for whom a match is difficult to find. It could also be useful in military or disaster situations where there is no time for blood typing people who are critically injured. Interest has also been expressed by researchers of malaria and other blood-borne diseases.

The first studies to assess the safety of manufactured blood are due to begin at the end of this year, although the first trial will not test this new type of blood cell. Even if safety is established, for the time being there is not currently enough capacity to produce it and industrialising the process could be costly.

'To make big huge vats of it would be outside of our ability in a research lab,' said Dr Frayne. 'We'd have to have company interest.'

Excerpt from:
Stem cells could be used to create 'endless supply of blood' - BioNews

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In what's reported to be a world-first, last Tuesday, a Japanese man received a pioneering retinal cell transplant grown from donor stem cells instead of his own.

Doctors took skin cells from a donor bank and reprogrammed them into induced pluripotent stem (iPS) cells, which can be coaxed to grow into most cell types in the body.

For this procedure, the physicians grew the iPS cells into atype of retinal cell, and then injected them into the retina of the patient's right eye.

The test subject was a man in his 60s who has been living with age-related macular degeneration-a currently incurable eye disease that slowly leads to loss of vision.

If this news sounds somewhat familiar, it's because the same team of Japanese doctors successfully performed a similar transplant in 2014. But in that case, the iPS cells came from the patient's own skin, not from a donor.

The 2014 treatment involved culturing a patient's cells into a thin sheet of retinal pigment epithelium cells, which they transplanted directly under her retina.

One year later, their results showed that the patient's disease had not progressedas it would have without any treatment, and she continues to do well.

But a second case study after the 2014 success never went ahead - the researchers found genetic abnormalities in the iPS cells they had derived from an additional patient's skin. To avoid complications, the doctors fromRIKENand Kobe City Medical Centre General Hospital decided to halt the trial and refine their approach.

Now they are back with a potentially safer technique that uses cells from a donor bank. The patient who received the transplant last week is the first of five approved for a study by Japan's health ministry in February this year. It's important to note that so far this is a safety study - a precursor to a clinical trial.

As team leader Masayo Takahashi from RIKEN told a press conference, we will have to wait and see for several years until we know for sure whether last week's transplant was a complete success - which is the whole point of doing a safety study like this.

"A key challenge in this case is to control rejection. We need to carefully continue treatment," she said.

The patient will be closely observed for a year, and then receive check-ups for three more years. The main things for the team to look out for are rejection of the new retinal cells, and the development of potential abnormalities.

An editorial in Nature praises the team's cautious approach, emphasising that this work with iPS cells could pave a smoother path for other trials in the emerging field of stem cell medicine.

If donor cells turn out to be a viable option in iPS cell procedures, it would be huge for creating more affordable stem cell treatments that anyone can benefit from.

Instead of having to induce stem cells out of each individual patient's samples, doctors could go down the cheaper and quicker route of simply picking a suitable match from a donor bank.

Stem cell treatments such as this new procedure are an extremely promising avenue in medicine, but scientists are right to remain cautious and proceed slowly. Just last month a devastating case report broke the news that three women lost their eyesight by participating in a dodgy stem cell trial.

On the other hand, in 2015, an experimental stem cell treatment showed promise in multiple sclerosis (MS) patients, and just last year, stem cell injections were used to help stroke patients in recovery.

With all these exciting developments, we'll definitely be keeping an eye on further reports from the Japanese team.

Originally posted here:
A Japanese man just got another person's stem cells transplanted in his eye - ScienceAlert

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Dear AGCTS Membership & Associates,

At our 2014 Annual General Meeting, we unanimously voted for a name change to the Australasian Gene and Cell Therapy Society (AGCTS) to reflect the broader interests of our society members in cell biology, particularly the use of stem cells in delivering gene medicines. The name change of our Society was finalised in 2015, announced to our membership and associates via email. You are now looking at our new website http://www.agcts.org.au.

At that meeting, the Executive Committee heard the membership loud and clear. Stronger links must be forged with cell therapy and stem cell research community. To achieve this goal we have partnered with the Australasian Society for Stem Cell Research (ASSCR) to deliver what is shaping up to be an inspiring and exciting Scientific Program with an incredible line-up of international research leaders and clinicians 24th 26th May 2017, UTS Aeriel Function Centre, Sydney.

I would like to acknowledge the already enormous contribution of the Joint 10th AGCTS and ASSCR Conference Organising Committee who have volunteered their time to make this meeting a success. Id like to individually thank our AGCTS VP Jim Vadolas, Treasurer Ann Simpson, Secretary Samantha Ginn, Exec Members Paul Gregorevic, Sharon Cunningham, Marguerite Evans-Galea, Ex-officio member Steve Wilton and ASSCR President Melissa Little, past-President Michael OConnor, VP Ed Stanley, Treasurer Robyn Meech, Secretary Michael Morris, Exec Members Michael Doran, Margret Schuller, Helen Abud, Trish Barker.

I am very proud to be leading a dedicated society which has continued to provide advocacy for Australian research in the development of molecular medicines, cell and gene therapies. Our membership works tirelessly to reduce the impact of some of Australias largest health problems and improve the well being of those diagnosed with acquired or genetic disease. Focus areas of our membership are broad and include cancer, viral infection (HIV, Hepatitis B & C), autoimmunity, immunodeficiency, diabetes, metabolic disease, blood, eye, ear and muscle disorders.

Although there have been considerable funding challenges of late, momentum is clearly building thanks to the enormous commitment and perseverance and of our researchers, clinicians, industry leaders and regulators. The AGCTS Executive Committee and I feel privileged to represent you and our sector in this very exciting journey and witness first-hand the translation of our field into the clinic which will be featured at our next meeting.

I look forward to welcoming you to our Joint 10th AGCTS and ASSCR Scientific Meeting in Sydney, 24th 26th May 2017.

Kind regards,

Rosetta Martiniello-Wilks PhD

President, Australasian Gene and Cell Therapy Society http://www.agcts.org.au

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Australasian Gene Cell Therapy Society AU

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As it continues its sales push for the controversial Duchenne med Exondys 51 (eteplirsen), Sarepta has taken on a new chief medical officer to help it develop its next-gen DMD pipeline.

The biotech announcedthis morning that Catherine Stehman-Breen, M.D., M.S., has become its new CMO after her two-year stint as VP of clinical development and regulatory affairs at Regeneron, and coming after a 12-year tenure at Amgen, where she led the neuroscience, nephrology and bone therapeutic areas.

She will take the role away from Ed Kaye, M.D., the companys CEO, who had also been holding the dual position of chief medical officer since 2011.

I deeply admire Sareptas profound commitment to improving the lives of boys with Duchenne muscular dystrophy and the exciting and innovative PMO and PPMO platform that is being harnessed to achieve this goal, said Stehman-Breen.I am excited to join the company at a time when it is rapidly building and look forward to working closely with the internal team and external collaborators as we seek to develop and commercialize novel therapies that address this significant unmet medical need.

We are thrilled to have Dr. Stehman-Breen join Sarepta and our mission to develop treatments for boys with Duchenne muscular dystrophy, added Kaye. Her extensive experience in global development, clinical operations and research across multiple therapeutic areas, at leading biopharmaceutical companies, positions her well to lead our medical teams and rapidly advance our RNA-targeted platforms and gene therapy programs.

Its current FDA-approved DMD med, which got the nod last fall despite having limited data and a negative AdComm, can only treat certain patients, namely those with the mutation of the dystrophin gene amenable to exon 51 skipping, which affects about 13% of the population with DMD.

Its pipeline is now trying to treat more boys with the genetic condition that will usually prove fatal in early adulthood, and includes research deals with Nationwide Childrens Hospital to work on their microdystrophin gene therapy program, as well as another form of gene therapy.

An initial phase 1/2a trial for the microdystrophin gene therapy is slated to begin at the end of the year and will be done at Nationwide Childrens.

It has also penned an exclusive license agreement with Nationwide for their Galgt2 gene therapy program. This early-stage program aims to research a potential surrogate gene therapy approach to DMD, whereby the gene therapy looks to induce genes that make proteins that can perform a similar function as dystrophin.

The goal here will be to produce a muscle cell that can function normally even when dystrophin is absent.

More:
Sarepta nabs Regeneron exec Stehman-Breen as new CMO - FierceBiotech

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Being happier, more optimistic is indeed good for your health Idaho Statesman A Mayo Clinic study found that people who have high anxiety have a moderately increased risk of developing Parkinson's disease decades later so do pessimists. Why does attitude affect your health? Chronic pessimism dings the immune system and ...

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Being happier, more optimistic is indeed good for your health - Idaho Statesman

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If your daughter, aged between 12 and 13, has been complaining of irregular periods, facial hair growth and weight gain, dont ignore the signs, instead be alert. These are the symptoms of polycystic ovarian syndrome (PCOS), a lifestyle-related disease that spikes speedily among women. Over the years, young girls also are falling prey to this disease and its a worrisome trend.

A study conducted by Metropolis Healthcare Ltd, a multinational chain of pathology laboratories, reveals shocking facts about PCOS. It states one in five women suffers from PCOS problem. East India leads the chart with one in four compared to North India, where it is one in five. In this study, 27,411 samples of testosterone were collected from women between 15 and 30 years of age for 18 months.

It showed that 4,824 (17.60 per cent) women face hormone-associated risk with polycystic ovarian syndrome. East India showed alarming levels of 25.88 per cent women affected, followed by 18.62 per cent in North India. The increasing trend is predominant in women between 15 and 30 years. Earlier, the trend was seen

in women between 28 and 35 years but now girls between 15 and 24 years are falling prey to PCOS. College students with problems of obesity, late periods, puberty acnes and stomach wrinkles come to my clinic with the issue, Dr Asha Sharma, a senior consultant at Apollo Cradle, Delhi, says, adding that even girls between 12 and 13 years are coming with the problems.

Imbalance of hormones in the body hampers the functioning of ovaries. Instead of producing one egg a month, ovaries start producing multiple immature eggs, which can be called cyst. And because of this, ovulation does not occur regularly, says Dr Manika Khanna, Director of Gaudium IVF, Delhi.

A drastic change in our lifestyle contributes most to PCOS cases. Children take a lot of beverages these days, which increases sugar levels and cause hormonal imbalance in the body, says Dr Sharma. Insulin moves glucose from the blood to cells to use as energy. When cells dont respond normally to insulin, the level of sugar and insulin in the blood rises. Too much insulin increases the production of androgens that cause imbalance.

Consumption of refined carbs in the form of fast and processed food also worsens the problem. Fast food and sedentary lifestyle disturb metabolism causing hormonal imbalance among girls. Studies have revealed that sometimes PCOS causes chemical changes in the mothers womb. Also, if a mother has PCOS, there is a 50 per cent chance that the daughter will also have it. A combination of genetic and environmental factors causes PCOS.

If the initial signs are ignored or not diagnosed in time, it can cause Type II diabetes, cardiovascular diseases and high blood pressure. PCOS in older women could even lead to cancer of the uterus. Dr Abha Majumdar of Sir Ganga Ram Hospital, Delhi, says, Undiagnosed PCOS can lead to infertility and multiple abortion problems. Around 30 to 35 per cent women come to our clinic for IVF treatment. Dr Khanna adds that most infertility cases related to PCOS are from the northern states.

PCOS cannot be diagnosed with just one test. Vaginal ultrasound, blood sugar and insulin test along with some hormonal blood test are carried out to ascertain PCOS. If three tests give positive results, only then we start treating a patient for PCOS, says Dr Majumdar.

With the help of early symptoms, doctors can treat PCOS patients with medication and changes in lifestyle. Good food habits and regular exercise can keep PCOS at bay.

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Hormones harm as life loses its style - The New Indian Express

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