How a tiny patch of skin helped researchers save the life of a young boy battling a deadly disease

 

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After receiving his new skin, the boy plays on the grounds of the hospital in Bochum, Germany. Credit: RUB

By any standards epidermolysis bullosa (EB) is a nasty disease. It’s a genetic condition that causes the skin to blister, break and tear off. At best, it’s painful and disfiguring. At worst, it can be fatal. Now researchers in Italy have come up with an approach that could offer hope for people battling the condition.

EB is caused by genetic mutations that leave the top layer of skin unable to anchor to inner layers. People born with EB are often called “Butterfly Children” because, as the analogy goes, their skin is as fragile as the wings of a butterfly. There are no cures and the only treatment involves constantly dressing the skin, sometimes several times a day. With each change of dressing, layers of skin can be peeled away, causing pain.

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Hands of a person with EB

Life and death for one boy

For Hassan, a seven-year old boy admitted to the Burn Unit of the Children’s Hospital in Bochum, Germany, the condition was particularly severe. Since birth Hassan had repeatedly developed blisters all over his body, but several weeks before being admitted to the hospital his condition took an even more serious turn. He had lost skin on around 80 percent of his body and he was battling severe infections. His life hung in the balance.

Hassan’s form of EB was caused by a mutation in a single gene, called LAMB3. Fortunately, a team of researchers at the University of Modena and Reggio Emilia in Italy had been doing work in this area and had a potential treatment.

To repair the damage the researchers took a leaf out of the way severe burns are treated, using layers of skin to replace the damaged surface. In this case the team took a tiny piece of skin, about half an inch square, from Hassan and, in the laboratory, used a retrovirus to deliver a corrected version of the defective gene into the skin cells.

 

They then used the stem cells in the skin to grow sizable sheets of new skin, ranging in size from about 20 to 60 square inches, and used that to replace the damaged skin.

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In the study, published in the journal Nature, the researchers say the technique worked quickly:

“Upon removal of the non-adhering gauze (ten days after grafting) epidermal engraftment was evident. One month after grafting, epidermal regeneration was stable and complete. Thus approximately 80% of the patient’s TBSA (total body surface area) was restored by the transgenic epidermis.”

The engrafted skin not only covered all the damaged areas, it also proved remarkably durable. In the two years since the surgery the skin has remained, in the words of the researchers, “stable and robust, and does not blister, itch, or require ointment or medications.”

In an interview in Science, Jakub Tolar, an expert on EB at the University of Minnesota, talked about the significance of this study:

“It is very unusual that we would see a publication with a single case study anymore, but this one is a little different. This is one of these [studies] that can determine where the future of the field is going to go.”

Because the treatment focused on one particular genetic mutation it won’t be a cure for all EB patients, but it could provide vital information to help many people with the disease. The researchers identified a particular category of cells that seemed to play a key role in helping repair the skin. These cells, called holoclones, could be an important target for future research.

The researchers also said that if a child is diagnosed with EB at birth then skin cells can be taken and turned into a ready-made supply of the sheets that can be used to treat skin lesions when they develop. This would enable doctors to treat problems before they become serious, rather than have to try and repair the damage later.

As for Hassan, he is now back in school, leading a normal life and is even able to play soccer.

 

 

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Discovering stem cells and science at Discovery Day

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The CIRM booth at Discovery Day at AT&T Park

Someone stole my thigh bone. One minute it was there. The next, gone. I have narrowed down the list of suspects to the more than 25,000 people attending Discovery Day at San Francisco’s AT&T Park.

To be honest, the bone was just a laminated image of a bone, stuck to the image of a person drawn on a white board. We were using it, along with laminated images of a brain, liver, stomach and other organs and tissues, to show that there are many different kinds of stem cells in the body, and they all have different potential uses.

The white board and its body parts were gimmicks that we used to get kids to come up to the CIRM booth and ask what we were doing. Then, as they played with the images, and tried to guess which stem cells went where, we talked to their parents about stem cell research, and CIRM and the progress being made.

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Dr. Karen Ring explaining embryonic development to kids

We also used Play Doh so that the kids could model cell division and specialization during embryonic development. But mostly it was so the kids could play with the Play Doh while we talked to their parents.

It is shameless I know but when you are competing against more than 130 other booths for people’s attention – and some of these booths had live snakes, virtual reality devices, or they just let kids throw and hit things – you have to be creative.

And creativity was certainly the key word, because Discovery Day – part of the annual week-long Bay Area Science Fair – was filled with booths from companies and academic institutions promoting every imaginable aspect of science.

So why were we there? Well, first, education has been an important part of CIRM’s mission ever since we were created. Second, we’re a state agency that gets public funding so we feel we owe it to the public to explain how their money is being used. And third, it’s just a lot of fun.

NASA was there, talking about exploring deep space. And there were booths focused on exploring the oceans, and saving them from pollution and over-fishing. You could learn about mathematics and engineering by building wacky-looking paper airplanes that flew long distances, or you could just sit in the cockpit of a fighter jet.

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And everywhere you looked were families, with kids running up to the different booths to see what was there. All they needed was a little draw to get them to stick around for a few minutes, so you could talk to them and explain to them what stem cells are and why they are so amazing. Some of the kids were fascinated and wanted to know more: some just wanted to use the Play Doh;  at least one just wanted to eat the Play Doh, but fortunately we were able to stop that happening.

It was an amazing sight to see a baseball stadium filled with tens of thousands of people, all there to learn about science. At a time when we are told that kids don’t care about science, that they don’t like math, this was the perfect response. All you had to do was look around and see that kids were fascinated by science. They were hungry to learn how pouring carbon dioxide on a candle puts out the flame. They delighted in touching an otter pelt and feeling how silky smooth it is, and then looking at the pelt under a microscope to see just how extraordinarily dense the hairs are and how that helps waterproof the otter.

And so yes, we used Play Doh and a white board person to lure the kids to us. But it worked.

There was another booth where they had a couple of the San Francisco 49er’s cheerleaders in full uniform. I don’t actually know what that had to do with teaching science but it was very popular with some of the men. Maybe next year I could try dressing up like that. It would certainly draw a crowd.


Check us out on Instagram to learn more about CIRM’s educational outreach efforts.

We had a lot of fun this weekend teaching young minds about what stem cells are and where they are located in the human body at the @bayareascience #DiscoveryDay festival. We had one activity where kids learned about embryonic stem cells and development using playdoh and another white board activity about adult stem cells. Students learned that each organ has its own set of adult stem cells that can regenerate lost or damaged cells in that specific organ. It was really fun to explain to kids and their parents why stem cells and regenerative medicine research are important. • • • #BASF2016 #stemcells #stemcellresearch #stemeducation #STEM #teaching #education #research #attpark #CIRM #development #embryonicstemcells

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How stem cells made the list of scientific breakthroughs of 2014 (twice actually)

This is the time of year when everyone puts out their lists of the best and worst of the last 12 months. The best movies (”Guardians of the Galaxy”, “The Grand Budapest Hotel”) the worst movies (“Guardians of the Galaxy”, “The Grand Budapest Hotel” – it’s all a matter of taste really) the best music etc. You get the picture.

Science imagesSo it’s always fun to see what makes the list of the “biggest scientific breakthroughs” of 2014. I put those in quotations because I always get a little nervous using the word “breakthrough” when talking about stem cells; what seems like a breakthrough one year, could prove out to be a dud the next. Or, worse still, a fake – see yesterday’s blog. But when Science magazine uses the word as part of its article: ‘Breakthrough of the Year: The top 10 scientific achievements of 2014’, I think it has a shot at being accurate.

The list is compiled by the editors of Science, to highlight what they call “a singular scientific achievement”. I’ll tell you what they chose as the winner in a moment, but there are two stem cell stories that were listed as runners-up.

Giving new life to old mice; cartoon courtesy of

Giving new life to old mice; cartoon courtesy of

The first story was about a trio of studies that showed how giving older mice the blood of younger mice can help rejuvenate them in surprising ways, including improving muscle and brain function. We blogged about this work when it came out in May. It’s already being tested to see if it might work in people, with 18 Alzheimer’s patients getting injections of plasma donated by young adults, to see if that can help slow down or halt the progression of the disease.

The second story was about work turning embryonic stem (ES) cells into mature beta cells, the kind of cells found in our pancreas that help produce insulin. These are also the cells that are destroyed in type 1 diabetes. This year researchers found a way to turn ES cells into mass quantities of beta cells, a critical first step in developing a therapy for type 1 diabetes. The next step is to find a way to protect those cells from the same autoimmune reaction that killed the beta cells in the first place.

What’s particular interesting about this work – at least from our perspective – is that we are funding a clinical trial run by ViaCyte that uses this same approach, and has the cells encapsulated in a special device to protect them from the immune system.

Getting two stem cell stories on the list of the biggest scientific stories of the year is no mean achievement, and a sign of the progress the field is making. We’re hoping that 2015 sees even more stem cell stories making positive news headlines.

As for the story named the “Breakthrough of the Year”, it was the ten-year mission that ended with the landing of a spacecraft on a comet 326 million miles away from earth. Coming second to that kind of astonishing achievement is no disgrace.

A look at 2014: some of the lowlights of stem cell research this past year

It’s been quite a year in stem cell research. Here at the stem cell agency eight projects that we are funding have been approved for clinical trials and several more hope to get approval in early 2015. And Dr. Don Kohn and his team at UCLA announced that they have effectively cured Severe Combined Immunodeficiency or SCID  a fatal disease that leaves infants with no immune system.

But the news hasn’t been all good. A number of high profile retractions of studies published in prestigious journals have drawn attention to some of the less lovely aspects of science. There are many reasons why a researcher or scientific journal decides to retract a study – falsified data, inability of others to reproduce the findings etc. – but the end result is always the same, a stain on the reputation of science in general.

Of course the only thing worse than a retraction is bad science that is not retracted. That’s why websites such as Retraction Watch are so important. They keep an eye on the field and help draw attention to questionable papers (in all areas of science, not just stem cell research).

Ivan Oransky of Retraction Watch

Ivan Oransky of Retraction Watch

The two founders of the site, Evan Marcus and Ivan Oransky, do a remarkable job of highlighting work that doesn’t stand up to closer scrutiny. This year they worked with the magazine Science to highlight The Top 10 Retractions of 2014.  Sadly, two of the top 10 – including the number one story of the year – concern stem cell research.

The list is a reminder, as we look forward to 2015 for more progress in the field, that we need to always check the credibility of studies or sources we are using. Sometimes something that seems too good to be true, is too good to be true.

Tomorrow, we’ll take a look at the flip side of this discussion, the “Biggest Scientific Breakthroughs of 2014”. It’s always good to end the year on a positive note.

Discovery Days; bringing new life to the life sciences

Here are three words you don’t often see strung together: free, science, extravaganza. Yet that’s how Saturday’s Discovery Days at AT&T Park in San Francisco (home of the newly crowned baseball world champion Giants) is being described.

Robots on the rampage at last year's Discovery Days science fair

Robots on the rampage at last year’s Discovery Days science fair

The event truly is a celebration of science. It features more than 150 exhibits on everything from stem cells (that’s us) to rockets and robots and learning how your body and your brain work. It lets you learn about the world through interactive displays, games and experiments that engage and entertain.

Discovery Days is part of the Bay Area Science Festival. The Festival hopes that by making this a fun event it will encourage kids – and that’s the main audience here – to think about pursuing a career in science.

Parents and teachers are an important part of it too. The event gives them both ideas and tools on how to make learning about and teaching science more enjoyable, to help them get young people thinking about science outside the classroom, and to get them to understand that everything they see and do – from throwing a baseball to building a house – involves science.

Engaging the public in science is more than just an academic exercise. In recent years we have seen some fairly sizable cuts in funding for health, medical and scientific research in the US. These cuts are already slowing down our ability to do the research that can lead to new treatments for deadly diseases. Public support for scientific research is essential if we are to stop the cuts and increase funding. Events like Discovery Days can not only educate the public on how fascinating science is, but also how essential public funding for it is.

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So come along tomorrow (November 1) to Discovery Days. The event runs from 11am to 4pm and it’s FREE. It’s at AT&T Park (did I mention that’s the home of the newly crowned champions of baseball, the San Francisco Giants).

Here’s how you can get there