The research studies carried out by John B. Gurdon (Anglo-Saxon) and Shinya Yamanaka (Japanese) were awarded the Nobel Prize in Medicine. These two scientists are considered of being the fathers of cellular reprogramming. They have achieved to create cells that behave identically to embryonic cells, however, without having to destroy human embryos. The Swiss Academy declared that both Gurdon and Yamanaka have revolutionized the current knowledge of how cells and organisms are developed, which has led to the perfection of the absurd methods of diagnosis and therapy.

Jhon Bertrand Gurdon, professor of the Zoology Department of the University of Cambridge, admitted of feeling extremely honored for such a spectacular privilege.

Moreover, Shinya Yamanaka discovered the so called induced pluripotent stem cells (iPS), which have the same proprieties of the embryonic ones and are able to turn into whatever other type of body cell. He asserted that he will continue to conduct research in order to contribute to society and medicine. For him that is a duty.

Yamanaka created four types of genes that supply cells with their pluripotentiality, in other words, the same capacity that embryonic stem cells have. If implanted in differentiated cells, for example of skin, they become pluripotent stem cells. The iPS supply a vast amount of plasticity just as embryonic stem cells do, however, without requiring the extermination or cloning of human embryos, since the initial cells can be obtained from the same patient. In this aspect, these cells have the same status as adult stem cells do, with the advantage of their versatility.

The dilema that has been stirred by the iPS is being resolved due to recent studies carried out by Leisuke Kaji (Universidad de Edimburgo) and Andreas Nagy (Samuel Lunenfeld Research Institute of Mount Sinai Hospital of Toronto).

The created iPS perennially retain their pluripotentiality. There is still the need of research to be conducted concerning the control of the difference between these cells in order for them to create the tissue that is necessary for each case. As Kaji affirms in The Guardian, it is a step towards the practical use of reprogrammed cells in the field of medicine, which could eventually lead to eliminating the need of counting on human embryos as the main source of stem cells.

The Episcopal Subcommittee for the Family and Defense of Life of the Episcopal Conference, beliefs that no Catholic could support practices such as abortion, euthanasia or the production, freezing and/or manipulation of human embryos.

Clement Ferrer

Independent Forum of Opinion

http://indeforum.wordpress.com/

Read more from the original source:
The Gilmer Mirror - Hurray for Gurdon and Yamanaka Nobel Prize ... - Gilmer Mirror

We treated a 9-month old child affected by caudal regression syndrome (CRS) as we treat patients with spinal cord injuries. His spinal cord had been interrupted during fetal development at the L2-L3 level, therefore no innervation (sensitive or motor) existed beyond this level: flaccid paraplegia of inferior limbs and clubfoot, and neurogenic bladder and bowel. Moreover, there was sacral agenesis and right renal agenesis.

Treatment consisted in Growth Hormone (GH) administration plus two daily sessions of specific physiotherapy. GH treatment was given 5 days/week during 3-months followed by 15-days without GH administration; this protocol was repeated during 5 years, being GH doses periodically adjusted to the weight of the patient.

Changes observed in the child were assessed by carrying out the GMFM-88 test and evaluating sensitive and motor ASIA scores. GMFM-88 score at admission was 12.31%, while sensitive ASIA score was 168, and motor ASIA score was 50. Sensitive innervation began to appear quite earlier than motor innervation and reached the maximum ASIA score (224) two years after the treatment commenced. At this time a pelvic floor therapy was added (1 session/week) to rehabilitation. One year later the patient began to walk with crutches; then melatonin was given, at a daily dose of 50 mg (before going to bed) for counteracting the increased production of oxygen free radicals due to the physical effort induced by walking without the support of sacrum and the existence of hip luxation.

Five years after the treatment commenced the GMFM-88 test reached a score of 78.38% (maximum value: 100), while ASIA motor score was 84 (maximum value: 100). Full control of sphincters has been achieved.

To our knowledge this is the first case in which highly significant improvements have been obtained in this syndrome, until now considered to be irreversible. Most likely the early treatment with GH and rehabilitation was the factor responsable for the improvements observed. Since GH has been the only variable we introduced with regard to usual rehabilitation therapies, we think that the hormone induced the proliferation and differentiation of SC ependymal stem cells that led to the formation of a net of new specific nervous connections (perhaps arising from the last existing spinal nerve), although only a tractography may explain what was the origin of the new innervation, since the last MRI study performed when the child was 5-years old did not reveal any change in the vertebral columna and SC with regard to the first MRI study (7-days old). No adverse effects were observed during the treatent with GH and melatonin. Figure 1.3D reconstruction of a CT-SCAN. Age 4-years. It can be seen where the SC interrupted its development (hypoplastic L3), the existence of sacral agenesis, the articulation of iliac bones and the rotation of the left hip. Figure 2. 3-months after the treatment began. Note the abnormal position of the legs and feet. The child only could move his arms and trunk. Figure 3.1 year of treatment. Note the position of his feet. Sensitivity existed but he only could move by crawling with his arms and trunk.

Figure 4.After 2-years of treatment full sensitivity existed. In the image the child is signaling where he had been touched (his eyes were covered with a pillow.

Figure 5.4-years of treatment. The child is able to make plantar flexion (against resistence) and dorsiflexion (not showed) with both feet.

Figure 6.5-years of treatment. The child is able to get up from the floor and keep standing with arms outstretched.

Written By:Jess Devesa, MD, PhD,Scientific Direction, Medical Center Foltra, 15886 Teo, Spain

Read the Abstract

Read more:
Growth Hormone and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome ... - UroToday

Expedition 52 explored the aging process in space today and measured the lighting conditions on the International Space Station. The crew is also getting spacesuits ready for an upcoming Russian spacewalk.

Flight Engineer Peggy Whitson swapped out stem cell samples today inside the Microgravity Science Glovebox for the Cardiac Stem Cells study. The experiment is researching spaceflights effect on accelerated aging and may provide a treatment for heart disease on Earth. Scientists are observing the stem cells in space to determine their role in cardiac biology and effectiveness in tissue regeneration.

Whitson also set up light meters to measure the intensity and color of new LED (light-emitting diode) light bulbs installed in the station. The data is being collected for the Lighting Effects study to determine how the new lights affect crew sleep, circadian rhythms and cognitive performance.

NASA astronaut Jack Fischer checked out Russian Orlan spacesuits with Commander Fyodor Yurchikhin this morning. The spacesuit maintenance work is doing being done ahead of a Russian spacewalk planned for later this year.

Read more from the original source:
Aging and Heart Research Lead Station Science Today - Space Fellowship

Today the Charlotte Lozier Institute announced the release of its latest testimonial video at StemCellResearchFacts.org, a project of the Washington, D.C.-based research and policy group. The video revisits Jackie Stollfus, a lupus survivor whose story was first told in a video released in 2014.

Diagnosed at the age of 21 with systemic lupus, an autoimmune disease with no known cure, Stollfus endured years of debilitating symptoms that did not respond to medication before undergoing a transplant of her own bone marrow stem cells. Seven years later, she is healthy, active, and has been able to start a family. Adult stem cells saved my life, gave me a chance to have a life, gave me that chance to be a mom, she says.

Dr. David Prentice, Vice President and Research Director of the Charlotte Lozier Institute and an international expert on stem cells, hailed the new video, saying:

Follow LifeNews.com on Instagram for pro-life pictures.

Autoimmune diseases are notoriously challenging to treat, which makes Jackie Stollfuss recovery that much more striking. As this video shows, adult stem cells are the gold standard for stem cells when it comes to patient-centered science. Jackies story is only the latest example of innovation using adult stem cells. These non-controversial cells have led to validated healing in FDA-approved studies and peer-reviewed publications for patients with various diseases and conditions. Derived from bone marrow, umbilical cord blood, and other ethical sources, they have already been used to help over one million suffering patients around the globe.

Charlotte Lozier Institute President Chuck Donovan praised Congressional efforts to prioritize NIH funding for the most promising research:

The initial successes for these innovative therapies must be followed up with expanded resources to bring more treatments to the clinic and the bedside. The bipartisan, aptly-named Patients First Act (H.R. 2918) introduced by Rep. Jim Banks and Rep. Dan Lipinski is a good example of how policymakers can advance cutting-edge medicine. It directs resources for stem cells where they will do the most good for patients.

StemCellResearchFacts.org, a project of the Charlotte Lozier Institute, was established in 2009 to facilitate and form a worldwide community dedicated to helping individuals, patients and families discover, learn and share the latest advances in adult stem cell research. To that end, the website has published 16 video testimonials backed by peer-reviewed published science. These testimonials feature patients who have undergone successful therapies for a variety of conditions including autoimmune diseases, cancer, spinal cord injury, heart disease, and more using adult stem cells. They also convey the testimony of doctors and researchers on the merits of these treatments.

Continued here:
Adult Stem Cells Save Woman Ravaged by Lupus, Now She Can be a Mom - LifeNews.com

Regulatory News:

Cellectis (Alternext: ALCLS; Nasdaq: CLLS), a clinical-stage biopharmaceutical company focused on developing immunotherapies based on gene-edited CAR T-cells (UCART), announced today the first administration in the Phase I clinical study in Acute Myeloid Leukemia (AML) for its investigational product UCART123, one of the Companys wholly-controlled TALEN gene-edited product candidates. This marks the first allogeneic, "off-the-shelf gene-edited CAR T-cell product candidate targeting CD123 to be investigated in clinical trials.

This clinical research in AML is led by Principal Investigator Dr. Gail J. Roboz, Professor of Medicine at Weill Cornell Medicine and Director of the Clinical and Translational Leukemia Programs at Weill Cornell Medicine and NewYork-Presbyterian Hospital.

The clinical trial will investigate the safety and efficacy of UCART123 in patients with AML. AML is a devastating clonal hematopoietic stem cell neoplasm which is characterized by uncontrolled proliferation and accumulation of leukemic blasts in bone marrow, peripheral blood and, occasionally, in other tissues. These cells disrupt normal hematopoiesis and rapidly cause bone marrow failure. In the U.S., there are an estimated 19,950 new AML cases per year, with 10,430 estimated deaths per year. While complete response rates can be as high as 80 percent in younger patients who undergo initial induction cytotoxic chemotherapy, the majority of AML patients relapse and die from the disease. AML patients with high-risk genetic features have an especially urgent unmet medical need, as their outcomes are dismal with all existing treatment modalities, including allogeneic stem cell transplantation.

"After being granted rapid approval from Regulatory Authorities and Institutional Review Boards to initiate UCART123 studies, the enrollment and treatment of the first patient represents a major milestone for Cellectis, and we are eager to hit the ground running with the recruitment of our first patient for our second UCART123 Phase I study in BPDCN soon, said Dr. Loan Hoang-Sayag, Cellectis Chief Medical Officer. "This first program targeting CD123 will be a paradigm shift for our Company, as it will provide a wealth of valuable additional knowledge and data to drive our gene-edited allogeneic CAR T-cell platform.

"We are excited to be enrolling our first patient with UCART123 and are hopeful that this novel immunotherapy modality will prove to be a significant and effective weapon against AML, said Dr. Roboz.

The clinical trial is part of a strategic translational research alliance that was formed between Cellectis and Weill Cornell Medicine in 2015. Dr. Monica Guzman, an associate professor of pharmacology in medicine at Weill Cornell Medicine, is co-principal investigator whose work focuses on preclinical and early-stage testing to optimize the development of stem cell-targeted cancer drugs.

About Cellectis

Cellectis is a clinical-stage biopharmaceutical company focused on developing a new generation of cancer immunotherapies based on gene-edited T-cells (UCART). By capitalizing on its 17 years of expertise in gene editing built on its flagship TALEN technology and pioneering electroporation system PulseAgile Cellectis uses the power of the immune system to target and eradicate cancer cells.

Using its life-science-focused, pioneering genome engineering technologies, Cellectis goal is to create innovative products in multiple fields and with various target markets.

Cellectis is listed on the Nasdaq market (ticker: CLLS) and on the NYSE Alternext market (ticker: ALCLS). To find out more about us, visit our website: http://www.cellectis.com

Talking about gene editing? We do it. TALEN is a registered trademark owned by the Cellectis Group.

Disclaimer

This press release contains "forward-looking statements that are based on our managements current expectations and assumptions and on information currently available to management. Forward-looking statements involve known and unknown risks, uncertainties and other factors that may cause our actual results, performance or achievements to be materially different from any future results, performance or achievements expressed or implied by the forward-looking statements. The risks and uncertainties include, but are not limited to, the risk that the preliminary results from our product candidates will not continue or be repeated, the risk of not maintaining regulatory approval to pursue UCART123 clinical trials, the risk of not obtaining regulatory approvals to commence clinical studies on UCART123 in other countries or on other UCART product candidates, the risk that any one or more of our product candidates will not be successfully developed and commercialized. Further information on the risks factors that may affect company business and financial performance, is included in filings Cellectis makes with the Security Exchange Commission from time to time and its financial reports. Except as required by law, we assume no obligation to update these forward-looking statements publicly, or to update the reasons actual results could differ materially from those anticipated in the forward-looking statements, even if new information becomes available in the future.

View source version on businesswire.com: http://www.businesswire.com/news/home/20170627006309/en/

More:
First in Human Administration of UCART123 in Cellectis' AML Phase I Clinical Trial at Weill Cornell Medicine ... - Markets Insider

A Winnipeg toddlerwith acute myeloid leukemia has died after hundreds came forward to register as donors in an effort to help him.

After being diagnosed with the disease on Oct. 25, 20-month-old Tegveer Minhaswent through two rounds of chemotherapy, losing his hair and a lot of weight.

During that time, his family put out calls to the public to come forward and register bone marrow and stem cell information, in hopes that someone would be a match.

Hundreds of people in Manitoba, Ontario and Alberta were swabbed, and Tegveer got a stem cell donation, but his dad said it didn't work.

"After eight months of struggle, he passed away on June 18, early in the morning at 6 a.m.," said his dad,Sukhbir Minhas.

Minhas saidhis family is trying to stay strong, but they are having a hard time.

"He was a happy soul. He loved to go out. We took him to Clear Lake on June 4, and I wish I knew that he would love it so much. We were planning to go back again," Minhas said.

The hundreds of strangers who registered as donors, prayed for and even phoned the family to offer supportmeant the world to Minhas and his wife, he said.

"There was a time in the hospital, it was in January I think, we were so sure that my son's going to be all right, because it's just not me and my wife, it's thousands of other people who are praying for him," he said.

He urged people, especially young people aged 18 to 35, to register as donors to help other families.

"I respect every person from the bottom of my heart who went and got themselves swabbed, and even those who just had a thought of going and get themselves swabbed. That means they care for my son as I and my wife," he said.

"It feels a little better than if there was nobody for us."

Original post:
'He was a fighter,' says father after toddler dies of leukemia - CBC.ca

Jonathan Pitre is a teenager who loves to write science fiction as an escape from the painful disease that causes his body to be coated with wounds.

But the breakthrough bone-marrow transplant he just received at the University of Minnesota is anything but fantasy.

A decade after performing the worlds first bone marrow transplants to treat epidermolysis bullosa a rare and potentially fatal skin disease university researchers believe they have discovered a powerhouse new formula that advances their research, helps the body grow new skin and will allow patients such as Pitre, 17, to live longer, less painful lives.

Its really not miraculous. It certainly isnt science fiction, said Dr. Jakub Tolar, director of the Us stem cell institute and the world leader in transplant therapies for EB. Its based on the hard work of our predecessors. You accomplish something and then you use that knowledge to enhance the next step and the next step.

When they conducted the first transplants using donor bone marrow and umbilical cord blood in 2007, Tolar and colleagues were trying to produce a collagen that binds skin together and is lacking in EB patients. But they had little certainty about the types of cells that would work best.

Since then, research discoveries have allowed them to home in on mesenchymal stem cells, which they believe are uniquely good at bullying their way into the body and producing the missing collagen.

This is the first time ever, that I know of, when you are infusing them with the goal that these cells will stay, Tolar said. They will graft into the skin, set up shop there. Its as if these mesenchymal stem cells are coming home.

The doctors have also focused on transplants involving bone marrow from relatives, which is more familiar to the body and less likely to be rejected by the recipients.

A transplant like Jonathans occurs in a one-two punch. After receiving radiation and chemotherapy treatments to suppress the immune system, the patient receives an infusion of hematopoietic blood stem cells from a donor. Their job in this procedure is to give the patient a new immune system that wont reject the donors mesenchymal cells when they are transplanted later.

Since the U received federal approval last fall to offer the treatment experimentally, seven patients have undergone the procedure.

Tolar said all seven are progressing though Jonathan needed a second transplant this spring because the first one failed to knock out his old immune system.

Jonathan suffered an infection after his most recent transplant, which forced him to return to the hospital this month with high fevers and blisters on his face and mouth. Even so, Jonathans mother, Tina Boileau, said she has been taking pictures since the latest transplant to document the progress for her son, whose back is covered with wounds but for a healthy spot on his right shoulder blade.

Theyre actually in scabs, a sign of healing, said Boileau, who was the bone marrow donor for her sons transplant. Which Ive never seen before.

10 patients died

EB afflicts about one in every 30,000 to 50,000 people, though some forms are more severe than others. While it is known largely for the grotesque skin wounds it causes, the disease is often fatal because it leads to severe infections or skin cancers. It can also create internal wounds to the patients digestive tract, which impairs eating.

The desperation of children with the disorder and their families compelled the first transplants at the university in 2007. Even using the old approach, about two-thirds of patients saw improvements, but 10 of the first 30 recipients died from their diseases or complications of treatment.

The Us latest success with mesenchymal stem cells might end up being an incremental step. Earlier this year, Tolar and his colleagues published research showing success in an even more advanced therapy: laboratory testing using gene editing that can reprogram the patients cells to produce healthy skin cells and tissue.

Further successes could lead to clinical trials in which a patients own dysfunctional cells would be reprogrammed, preventing the need for chemotherapy and the replacement of their immune systems.

Before they came to the U, Boileau said, her son had run out of options. Managing his pain, once possible with over-the-counter Advil, had come to require opioid painkillers such as methadone. That made him groggy and complicated his already awkward life at school back home in Ottawa. Jonathan wasnt even able to eat lunch in the school cafeteria for fear of being accidentally bumped and suffering fresh wounds.

Then the Canadian government approved funding to make him his countrys first recipient of an experimental bone marrow transplant for EB. And his home community rallied to support the family. Among other things, he has visited with pro hockey players from the Ottawa Senators, which also issued a contract adding him to their scout staff.

After seeing the pain her son has endured, Boileau said shell never complain about a blister from new shoes. She marvels at his optimism and his use of science fiction reading and writing to escape.

Inspired by the success of Christopher Paolini, who wrote the acclaimed Eragon science fiction novel as a teen, Jonathan has resolved to write his own science fiction book about a teen who develops the ability to overcome EB. The project resulted in long visits and e-mail exchanges between Tolar and his patient about medicine and physics, because Jonathan wants his story grounded in reality.

Theyre almost soul mates, Boileau said.

Tolar said he enjoys the intellectual relationship and that his patient is providing an example of hope and teaching others about the disease: He may be the only person [who] can bring this kind of view to others, Tolar said.

Original post:
U team discovers 'powerhouse' new treatment in fight against deadly skin disease - Southernminn.com

In the future, when a couple wants to reproduce, they will not make a baby in a bed or in the backseat or a car, or under a Keep Off the Grass sign, says Henry Greely, the director of the Center for Law and the Biosciences at Stanford Law School.

Instead, they will go to a clinic. Using stem cells from the couples skin or other non-reproductive organs, scientists will be able to make eggs and sperm, which will be combined into embryos. Each of those embryos will have its own gene sequence, Greely says. The parents will be asked: What do you want to know about these embryos? And theyll be told.

Twenty or 30 years from now, parents will be able to screen their potential kids for genetic abnormalities, pre-disposal to disease, sex, and even cosmetic features like hair, eye, and skin color, Greely claims. The new way of baby-making will save women the pain of going through fertility treatments, he says, and it will prevent disease, save health-care costs, and give non-traditional families more chances to have children. If this reproductive future comes to pass, it will also come with a tangle of moral, legal, and medical questionsones that wont be easy to resolve, despite what Greely may think.

When Greely tells people about his theorywhich is the subject of his 2016 book, The End of Sex and the Future of Human Reproductionthey tend to say, This is Gattica, or this is Brave New World, he said during an interview with the New York Times reporter Carl Zimmer on Monday at the Aspen Ideas Festival, which is co-hosted by the Aspen Institute and The Atlantic. Greely is skeptical of this argument. This is not designer babies. This is not super babies. This is selecting embryos, he said.

Greely gets some of his confidence from the limits of science. Geneticists likely wont be able to predict kids behavioral traits, he said, like their aptitude for math or agility on a sports field. But they may be able to anticipate some traits, like intelligence, in broad strokes. Being able to tell parents that this embryo has a 60 percent chance of being in the top half [of their school class], this embryo has a 13 percent chance of being in the top 10 percentI think thats really possible, he said.

Scientists have been screening embryos using a process called preimplantation genetic diagnosis, or PGD, for two and half decades, Greely said. This allows for the detection of some genetic diseases, as well as determining the sex of the embryo. Up until now, it has been expensive and arduous, but with new technologyincluding the expanded use of stem cellsit will become easy, he said. The people most likely to lead the way on easy PGD are those with fertility trouble, he argues, or those who cant have their own biological kids, including same-sex couples. For these people, the process seems to be a clear potential win: Once hopeless, they may soon be able to have biological children of their own.

But if the process does indeed advance in the way Greely predicts, it will come with big ethical challenges. Safety is a big issue, he said. Coercion is a big issue: Will you be forced to do this? No matter how easy PGD becomes, it will always be expensive, meaning that babies from rich families would gain even more advantages over other people before they leave the womb. The procedure also challenges the disability-rights movement, Greely pointed out: It implicitly suggests that some traits, and thus some people, are preferable to others.

Theres very little about our modern lives that a God from 3000 years ago would have expected.

Some critics may also claim this process is against Gods will, Greely added. I dont have a lot of confidence in the intellectual strength of that argument, but I think it has a lot of visceral support.

Despite Greelys skepticism, this seems to be the greatest potential objection to a world of skin-cell babies and intensive genetic screening: It assumes that the creation of life is a matter of pipettes and petri dishes, not something greater. While the widespread use of contraceptives has largely divorced sex from procreation, this process would represent the final severing. As Greely pointed out, the very meaning of sex would change. Most people have sex and it doesnt result in a baby, he said. They do it because they like it. They do it as a token of love. They do it because theyre forced to. They do it to make money. Pleasure, ultimately, will be a main driver of sex, he added.

For the many peoplereligious or notwho believe that life is not ultimately a matter of science, the world of easy PGD may seem disorienting, even morally disturbing. But Greely didnt think religious or moral arguments could persuade someone like him, or society more broadly, that easy PGD isnt a good idea.

If you, coming from a Catholic background, try to convince me, coming from a non-Catholic background ... that wouldnt work for me, he said. I need a more intellectual argument than one based on my faith or the tablets brought down from the mountain for me say this. Theres very little about our modern lives thats natural or what a God from 3000 years ago would have expected or wanted, including all of modern medicine.

As head-spinning as these theoretical ethical challenges are, perhaps easy PGD wont be as common as Greely thinks. After all, he joked, were never going to get rid of teenagers in the back seat of a car.

Go here to see the original:
Making Babies, No Sex Necessary - The Atlantic

Important pieces of the puzzle to understand what drives diseases such as Alzheimer's and Parkinson's are still missing today. One crucial obstacle for researchers is that it is impossible to examine a living brain cell in someone who is affected by the disease. With the help of a new method for cell conversion, researchers at Lund University in Sweden have found a way to produce diseased, aging brain cells on a large scale in a cell culture dish.

After performing a biopsy on the patient, the skin cells are transformed into brain cells that effectively imitate the disease and the age of the patient. The fact that the cells can now be produced in large quantities enables researchers to carry out a series of experiments that were previously not possible.

A few years ago, Malin Parmar's research team was one of the first in the world to convert human skin cells directly into brain cells without passing the stem cell state. The discovery shocked the researchers and was perceived as almost impossible. The team is now approaching a point where the discovery is about to bear fruit on a wide scale. By following a new method that involves slightly changing the genetic code that triggers cell conversion, the researchers were able to multiply the production of disease-specific brain cells.

"Primarily, we inhibited a protein, REST, involved in establishing identity in cells that are not nerve cells. After limiting this protein's impact in the cells during the conversion process, we've seen completely different results. Since then, we've been playing around with changing the dosage of the other components in the previous method, which also proved effective. Overall, the efficiency is remarkable. We can now generate almost unlimited amounts of neurons from one skin biopsy", says Malin Parmar, professor of developmental and regenerative neurobiology at Lund University.

The increase in production will have far-reaching effects. The new volumes enable research projects that were simply not viable before. Among other things, it opens up research areas linked to new drug testing, the establishment of more accurate disease models and the development of diagnostics to detect the diseases at an earlier stage.

The new cells are not only able to imitate the disease but also the patient's age. By studying the cell in the culture dish, the researchers can now monitor the mechanisms of the disease in an "old" brain cell over time. Neurodegenerative diseases are commonly referred to as "aging brain diseases" and in order to understand them, we must better appreciate how the age specifically affects the course of the disease. The Lund researchers' discovery can hopefully contribute a crucial piece to the puzzle with regard to the connection between the onset of disease and cell aging, something which previous research based on animal experiments and stem cells has failed to provide.

"This takes us one step closer to reality, as we can now look inside the human neurons and see what goes on inside the cell in these diseases. If all goes well, this could fundamentally change the field of research, as it helps us better understand the real mechanisms of the disease. We believe that many laboratories around the world would like to start testing on these cells to get closer to the diseases", says Johan Jakobsson, leader of the molecular neurogenetics research group at Lund University.

See more here:
Large-scale Production of Living Brain Cells Enables Entirely New Research - Laboratory Equipment

The times, they are a-changing.

Since Gregor Mendel unwittingly became the father of genetics by writing down his botanical observations, we have been progressing along swimmingly in our understanding and application of biology.

In the past few years, we ourselves have made some measured leaps forward in the field of biotechnology, some small someless so. Yet with the monumental achievements we have made thus-far from the advent of vaccines to our understanding of how our bodies age and degenerate, we have yet to make that quantum leap forward. That quantum leap may itself not be that far off and if anything is a good indicator of that its observable in the nature of the biotech we are currently developing.

With any huge leap forward, however, come new challenges and a slew of new questions that desperately need to be answered.

This next step in our journey isnt quite like when we eradicated major diseases or began transplanting organs because it isnt about extending human life a mere few additional years. We are taking about a doubling in the years a human may live. Thats right, double.

Now, before you write this off as sci-fi or wishful thinking, let me walk you through exactly what breakthroughs are currently occurring. It all has to do with CRISPR gene-line editing and 3-dimensional printing.

We are at the point where we can take normal somatic cells like the ones from your skin, coax them back into stem cells then re-engineer them into just about any type of cells we want. This means shortly we will be able to take skin cells and make them into heart tissue, or liver, or pancreatic or any number of different ones.

Next, the advances in 3-dimensional printing may shortly be able to take your newly minted cells and print them onto a blank scaffolding in the shape of just about any organ you may need.

Think of that: if you need a new heart it could be as simple as scratching some skin from your arm, reprogramming the cells and then printing you a whole new organ. Not a transplant from a donor, your own cells. This means no rejection and no waitlists. When an organ fails we replace it, again and again and again.

What is to become of a human race that is capable of living seemingly without end? This brings up some serious questions that would have to be answered quickly.

For starters, we see that the current population growth of our species is unsupportable as we resist green energies and advanced farming methods. If humans were to begin to live twice as long or longer we must figure out what we are going to do.

Now the radicals would suggest we simply control the populations but I dont believe that is necessary or even morally right. All we must do is increase our carrying capacity. I must admit that was not my own musing but one my father suggested to me.

If we are able to increase how much food and energy we produce without damaging the planet there is virtually no limit to how many humans can live at once. But the question is, will we resist it as we are now? Will the prospect of living healthily well over a century spur us to begin to accept scientific consensus? Or will we continue down our current path of selfishness and greed? Only time will tell.

Excerpt from:
Is doubling our life span desirable? - Price Sun Advocate

One of the coolest things about working in the beauty industry is being in the know and having the ability to tell readers, friends and family about a new product or brand that really works the way it claims. When Beauty Pie, the self-professed Buyers Club for Beauty Addicts came onto the scene and the cosmetic line was just as good as it promised, it was an exciting discovery. Most luxury beauty products retail for about 10x what they actually cost to make, is one of Beauty Pies mantras, and now the "Netflix of Beauty" is out to revolutionize the skin carebuying process the same way it did with makeup when it launched six months ago.

You May Also Like: I Tried the Netflix of Beauty and the $2$4 Products Are Totally Legit

The digital-only, UK-based brand was started by Marcia Kilgore, founder of other notable brands like Bliss Spa and Soap & Glory, so its no wonder that the membership club has now ventured into skin care, too. Now, a monthly membership of just $10 allows you to not only buy high-quality $7 foundations, $3 mascaras and $5 lipsticks, but you can also get all of your skin care needs meet for less than $13.

For the launch of its new skin care line, Beauty Pie has tapped the best Swiss suppliers and leading cosmetic chemists to create a line with ingredients and formulations that rival high-end luxury brands. The 11 newly released products range from the hydrating Swiss-Korean Jeju Daily Antioxidant Superinfusion Essence Serum ($8 for members/ $80 for nonmembers) and the creamy Double-Phase Daily Deep Rinse-Off Cleanser ($5 for members/ $32 for nonmembers) to a Fruitzyme Five Minute Facial ($6 for members/ $60 for nonmembers).

With ingredients like kiwiberry stem cells, meadowfoam seed oils, pomegranate enzymes and oil-absorbing kaolin clay, were excited to try the serums, masks, moisturizer, cleanser and eye cream and judge for ourselves whether the products stand up to their makeup counterparts. Beauty Pie's concept of luxury products at factory prices is a concept that will never get old and one worthy of throuougly exploring.

Here is the original post:
$5 High-Quality Skin Care ExistsHere's the Proof - NewBeauty Magazine (blog)

If youve ever been concerned about hair loss in the past, this could be your lucky day. A new experiment carried out by Michael Rosenblum, assistant professor of dermatology at the University of California has proved just how useful regulatory T cells (tregs) are when it comes to hair loss. Previously scientists were led to believe that these cells single task was to inform other cells when to attack. However, what Rosenblum discovered when he shaved the mouse he was experimenting on, he noticed that the hair never grew back.

From the study, Rosenblum and team discovered that tregs in the skin had high levels of Jagged 1 (Jag1) which has the duty of calling in the stem cells through a process called Notch signaling. Removing the tregs reduced the notch signaling and when Jag1 was added the stem cells were called which then activated the process of follicle regeneration.

This study will be of particular interest to one type of hair loss sufferer: those with alopecia areata. This is an autoimmune disease that impedes hair follicle regeneration and affects as many as 1.7 percents of the U.S. population. Until now, very little has been known about what causes hair loss, but this research will give doctors and scientists everywhere new direction and a potential cure.

As well as hair regeneration, this process could be used to correct other skin related problems such as wound repair. What we found here is that stem cells, and immune cells have to work together to make regeneration possible, says Rosenblum. So dont despair if youre losing your hair, help is on the way!

Related Links;

More News to Read

comments

The rest is here:
Say Goodbye to Hair Loss and Hello to Body Regeneration - TrendinTech

Minneapolis, MN, June 26, 2017 (GLOBE NEWSWIRE) -- BioSig Technologies, Inc.(OTCQB:BSGM), a medical device company developing a proprietary platform designed to address an unmet technology need for the $4+ billion electrophysiology (EP) marketplace, today announced that the American Heart Associations 13thAnnualBasic Cardiovascular Sciences (BCVS) 2017 Scientific Sessions: Pathways to Cardiovascular Therapeuticshas accepted two abstracts for presentation that feature novel preclinical findings with BioSigs PURE EP System. The conference will be held July 10-13 in Portland, Oregon and includes the next best thing in cardiovascular research.

The abstracts, entitled, Use of a Novel Electrogram Filter to Visualize the Conduction Tissue Signals in the Ventricle in Sinus Rhythm and Arrhythmia: Canine Studies and "Assessment of Catheter Position Above or Below the Aortic Valve by Evaluation of Characteristics of the Electrogram: An Acute Canine Study", werewritten in collaboration with electrophysiologists from Mayo Clinic and will be presented during scientific poster sessions from 4:30pm 7pm on July 10 and 12, respectively.

BioSig is extremely pleased to have two abstracts, featuring our PURE EP System, accepted into the Basic Cardiovascular Sciences Conference sponsored by the American Heart Association, stated Mr. Ken Londoner, Chief Executive Officer and Chairman of BioSig Technologies. Our collaboration with Mayo Clinic physicians has resulted in seven publications to date featuring BioSigs platform technology. And, we intend to strive towards improving visualization of cardiac signal information during EP procedures to help bring benefits to those patients who suffer with, and doctors who treat, arrhythmia.

About the Basic Cardiovascular Sciences Conference

The 13th Annual BCVS 2017 Scientific Sessions: Pathways to Cardiovascular Therapeutics has become the premier conference for molecular cardiovascular biology and disease. Sponsored by the American Heart Association Basic Cardiovascular Sciences Council, the worlds leading organization of cardiovascular scientists, this conference strives to improve basic cardiovascular regulation through new therapies and insights in cardiovascular disease, as well as research in fields like microRNAs, cardiac gene and cell therapy, cardiac development, as well as tissue engineering and iPS cells.

BCVS 2017 convenes basic and translational cardiovascular scientists from around the world with the common goal to discover pathways to cardiovascular therapeutics and promoting cardiovascular health. This meeting has become the go to meeting for intra- and interdisciplinary cross-fertilization of ideas and incorporation of new approaches from the general scientific community and plays a pivotal role in the training of junior scientists and trainees. The program includes a diversity of speakers representing the best cardiovascular scientists from around the world.

About BioSig Technologies

BioSig Technologies is a medical device company developing a proprietary technology platform designed to improve the $4+ billion electrophysiology (EP) marketplace ( http://www.biosigtech.com). Led by a proven management team and a veteran, independent Board of Directors, Minneapolis-based BioSig Technologies is preparing to commercialize its PURE EP(TM) System. The technology has been developed to address an unmet need in a large and growing market.

The PURE EP System is a novel cardiac signal acquisition and display system which is engineered to assist electrophysiologists in clinical decision making during procedures to diagnose and treat patients with abnormal heart rates and rhythms. BioSigs main goal is to deliver technology to improve upon catheter ablation treatments for prevalent and deadly arrhythmias. BioSig has partnered with Minnetronix on technology development and is working toward FDA 510(k) clearance and CE Mark for the PURE EP System.

Forward-looking Statements

This press release contains forward-looking statements. Such statements may be preceded by the words intends, may, will, plans, expects, anticipates, projects, predicts, estimates, aims, believes, hopes, potential or similar words. Forward-looking statements are not guarantees of future performance, are based on certain assumptions and are subject to various known and unknown risks and uncertainties, many of which are beyond the Companys control, and cannot be predicted or quantified

Read more from the original source:
Novel Findings Obtained with the PURE EP System to be Presented at American Heart Association's BCVS Scientific ... - Cardiovascular Business

Ottawa Sun

Jonathan Pitre still ailing as doctors search for answers Ottawa Sun Pitre checked back into hospital earlier this month just three days after being released following a stem cell transplant that had successfully taken root in his bone marrow. Bone marrow stem cells produce most of the body's blood cells, and are ... and more »

More:
Jonathan Pitre still ailing as doctors search for answers - Ottawa Sun

Hot air: Triona McCarthy on how to smeel good

Independent.ie

Want to smell good, look good, and feel fantastic? The scentsational Triona McCarthy shows us her weekly round-up of lotions and potions to keep you looking hawt!

http://www.independent.ie/life/hot-air-triona-mccarthy-on-how-to-smeel-good-35845624.html

http://www.independent.ie/incoming/article35592585.ece/c3491/AUTOCROP/h342/mg%20Trionna.jpg

Want to smell good, look good, and feel fantastic? The scentsational Triona McCarthy shows us her weekly round-up of lotions and potions to keep you looking hawt!

Created by an Irish female natural beauty entrepreneur, YourBeautyTonic has everything your skin needs to boost beauty. Its key ingredients, collagen and hyaluronic acid, are the building blocks of youthful skin, and it also contains vitamins and minerals.

YourBeautyTonic, above, costs 59.95 for 30 days' supply, and is available from independent health stores, selected pharmacies and online at yourtonic.com

WAX ON, WAX OFF...

I'm off to Inchydoney, in west Cork this weekend, so I'm waxed.

The gals at Brazilia are so profesh, and they make the waxing experience so easy, painless, and, actually, almost pleasurable.

I don't know if I'm quite ready to rock a teeny-weny little bikini like Emily Ratajkowski, above, but you never know!

Brazilia, 50 South William St, D2, tel: (01) 675-0000; 4 Sandyford Office Park, D18, tel: (01) 293-4858, or see brazilia.ie

LET US SPRAY

Image PREVENTION + Pure Mineral Sunscreen Spray 30+ SPF, below, 47.50, is so quick and effective. Before walking Maxi and Mini to Montessori in the morning, I cleanse and moisturise my face, and spray on this ultra-lightweight, anti-pollution, anti-aging, pure mineral sunscreen spray with superior UVA/UVB and infrared protection.

Infused with antioxidants and plant stem cells, it nourishes and hydrates my skin with organic ingredients, including jojoba and sweet almond oil - and, best of all, it's free of parabens and chemicals.

TRIONA'S TRICK

We have my kiddies, Maxi and Mini, to thank for this week's beauty trick. If, like me, you don't like your Beauty Blender sponge getting all grubby in the bottom of your make-up bag, simply pop it into an empty Kinder Egg container to protect it!

CULT PRODUCT

Inspired by Poppy Delevingne's wedding make-up, this Charlotte Tilbury Instant Look In A Palette, above, 69, in Beauty Glow, is perfect for popping in your purse for on the go - goof-proof glam, as it has everything a gal needs to get gorgeous.

This is the fourth versh released, and definitely my fave, as the rose-gold and bronze tones are darker and more dramatic. I found the previous versions a bit too wishy-washy colour-wise, whereas this slays.

TRIONA'S TOP TIP

'Summer lovin' had me a blast,

Summer lovin' happened so fast'

I love a bit of Grease, but not on my head!

However, if like me, you have long hair and it's leaving you hot and bothered this summer, why not try a chic model-off-duty topknot.

Kate Moss pulls this look off so well, making it look stylish and hot, yet so nice and cool, as the hair's up and off your neck.

Best of all, a high bun has a cheekbone-lifting effect, so it's a win-win.

Slick your hair back with Shockwaves Ultra Strong Power Hold Gel, above, 2.50, which also helps fight frizzy fine hairs around your forehead, making you look hot in a good way!

If you're hitting the beach, make sure to layer this Philip Kingsley Sun Shield, below, 30, marksandspencer.ie, as hair can burn just like the skin when it's left unprotected.

This super-lightweight nourishing mist provides an invisible shield of protection over the hair. I always make sure I have it in my beach bag for myself and Will and the kids.

Best of all, it guards against colour fade from sun exposure, and diminishes damage and dryness caused by UV rays, chlorine and salt water.

'Summer days driftin' away, to uh-oh those summer nights'

Sunday Independent

Visit link:
Hot air: Triona McCarthy on how to smeel good - Independent.ie

When Shannon DeAndrea saw a knot on her 18-month-old sons head last July, she thought he had just fallen.

But more popped up and wouldnt go away. He also began feeling sick.

I finally decided he needed to see a pediatrician, said DeAndrea, who lives in Blairs.

She was told he had ear infections and her son, Nathan, was put on rounds of antibiotics. The knots were normal, she was told.

Another medical provider said he looked anemic. Blood work revealed his hemoglobin was dangerously low.

We ended up in the ER, DeAndrea said. They couldnt figure out why he was anemic.

Shannon and Nathan were sent to Roanoke, where he was diagnosed with a stage 4 neuroblastoma on Aug. 23. He had a tumor in his abdomen that spread to his bone marrow. He had spots on his skull, ribs and spine.

Neuroblastomas are cancers that begin in early nerve cells of the sympathetic nervous system, according to the American Cancer Society.

Since his diagnosis, her son now 2 has had several rounds of chemotherapy and two stem cell transplants and is doing well.

Now hes just like a normal 2-year-old, DeAndrea said. Hes running around with his sister. Hes eating well.

Dr. William Clark is associate professor of medicine and attending physician at Virginia Commonwealth University Massey Cancer Center Stem Cell Transplantation Program. Clark said the procedure is used for conditions including multiple myeloma, lymphoma, sickle cell anemia and leukemia.

Stem cell transplants are used to replace bone marrow that has been destroyed by cancer or destroyed by the chemo and/or radiation used to treat the cancer, according to the American Cancer Society.

High doses of chemo (sometimes along with radiation), work better than standard doses to kill cancer cells. However, high doses can also kill the stem cells and cause the bone marrow to stop making blood cells, which are needed for life. The transplanted stem cells replace the bodys stem cells after the bone marrow and its stem cells have been destroyed by treatment, according to the American Cancer Society.

Two types of stem cell transplants include autologous, which uses stem cells from the patients own body, and allogeneic using stem cells from another person, Clark said.

For leukemia patients, most of the time, we give them stem cells from someone else, Clark said. Chemotherapy helps lower the leukemia disease burden, but the new immune system provided by the new stem cells can fight against the cancer cells and get rid of them, he said.

Virginia Commonwealth Universitys cancer center performs an average of about 160-195 stem cell transplants per year, Clark said. Slightly more than half are autologous procedures, and the rest are allogeneic, he said.

Whitt Clement, former delegate who represented the Danville area in the General Assembly, underwent a stem cell transplant for acute myeloid leukemia in September 2015.

The most important aspect for patients is being self-aware and their own best advocates, Clement said.

My experience was that the patient has to ask a lot of questions throughout the process, he said.

He suspected something was wrong when he noticed his platelet count declining over seven years. He went to a hematologist and had a bone marrow biopsy that revealed his condition.

If I had not taken the initiative myself and gone to see a hematologist, matters would have progressed to the point where I would have been symptomatic, Clement said.

Finding the perfect match in a donor is also important, Clement said. Fortunately, he had a sibling who met all the criteria and donated stem cells.

A person can get great matches from unrelated donors, but its preferable for a donor to be a sibling, said Clement, partner at Hunton & Williams law firm in Richmond.

Your body has an easier time tolerating the new stem cells, he said.

Clement served in the Virginia House of Delegates from 1988-2002, and as Virginias secretary of transportation from 2002-2005 under Gov. Mark Warner.

For someone with multiple myeloma, the transplant does not cure the disease but delays the time it returns by up to seven and a half years, Clark said.

Lymphoma, leukemia and sickle cell anemia can be cured with the procedure, Clark said. Lymphoma can be cured in about 50 to 80 percent of cases, depending on the lymphoma, Clark said.

The first 30 days after the transplant are the most critical, Clement said. During that time, different organs can have varying reactions to the new cells. It can affect the kidneys, liver, gastrointestinal tract, skin, and cause other side effects.

The idea is that the closer the match, the less likely youll have those adverse reactions, he said.

The process includes being put on an immunosuppressant to prevent the immune system from attacking the new cells, Clement said.

He credits the quality of his recovery to asking lots of questions and being his own advocate tape recording conversations with medical providers, coming in with written questions.

Ive been able to recover better because of that, he said.

Its a long journey and so a person confronted with the transplant situation has got to prepare himself for a long journey that requires a lot of questions along the way, Clement said.

There are about 20 million potential stem cell/bone marrow donors in the BeTheMatch Registry in the United States, Clark said.

Stem cell transplants began in the late 50s/early 60s with the first successful procedure done in an identical twin, Clark said. However, stem cell transplants were limited until medicines that prevent rejections became available.

The number of procedures increased in the 1980s, Clark said.

Danville resident Susan Mathena, cancer patient navigator at Danville Regional Medical Center, became a donor about 20 years ago because she wanted to help people. Mathena has also been an organ donor since she got her drivers license.

I see patients all the time that need stem cell transplants, Mathena said. We always need a source of bone marrow donation.

Though she will age out of the stem cell donor list soon, she could still be contacted if she is the only match for someone in need, she said.

Clark will speak next month on stem cell/bone marrow transplants at Ballou Recreation Center at an event held by the Cancer Research and Resource Center of Southern Virginia in Danville.

Thousands of patients with blood cancers like leukemia or other diseases like sickle cell anemia need a bone marrow/stem cell transplant to survive, including some of our own community members, said Kate Stokely Powell, coordinator at the center.

Clarks presentation offers an opportunity in Southside for people battling illness, medical students and professionals and the public to learn from an expert in the field of stem cell transplants, Powell said.

Doctors, hospitals and families affected by a blood cancer disease have done a great job of building a massive database of blood types for potential donor matches, Clement said.

For DeAndrea and her son, Nathan, the first transplant included four or five days of chemo. The new stem cells following the chemo that killed off his old stem cells from the transplant were like a rescue, she said.

Its wiping you out and then giving you your cells back to restart your immune system, DeAndrea said.

A second round of heavy chemo was to try to kill what was left of the cancer and replenish cells, she said.

It was rough, it was a nightmare, DeAndrea said. It was by far the worst phase of his treatment, but I believe, in the long run, its worth it.

She said the procedures should increase Nathans chances for survival and prevent a relapse.

Nathan just finished radiation Tuesday and will go in for a biopsy of his bone marrow this week, DeAndrea said.

Well find out next week where we stand as far as the cancer goes, she said.

Read the original:
After two stem cell transplants and several rounds of chemo, 'now he's just like a normal 2-year-old' - GoDanRiver.com

Featured post

Stem Cell Research is an amazing field right now, and promises to be a powerful and potent tool to help us live longer and healthier lives. Just last month, for example, Stem Cell Therapy was used to restore sight in patients with severe retinal deterioration, allowing them to see clearer than they had in years, or even decades.

Now, there is another form of Stem Cell Treatment on the horizonthis one of a very different form. Stem Cells have now been used as a mechanism to deliver medical treatment designed to eliminate cancer cells, even in hard to reach places. One issue with current cancer treatments is that, treatments that are effective at treating tumors on the surface of the brain cannot be performed safely when the tumor is deeper within the brains tissues.

Stem Cells have the fantastic ability to transform into any other kind of cell within the human body, given the appropriate stimulation. As of today, most of these cells come from Embryonic Lines, but researchers are learning how to backwards engineer cells in the human body, reverting them back to their embryonic state. These cells are known as Induced Pluripotent Stem Cells.

How Does This Stem Cell Cancer Treatment Work?

Using genetic engineering, it is possible to create stem cells that are designed to release a chemical known as Pseudomonas Exotoxin, which has the ability to destroy certain tumor cells in the human brain.

What is Pseudomonas Exotoxin?

Pseudomonas Exotoxin is a compound that is naturally released by a form of bacteria known as Pseudomonas Aeruginosa. This chemical is toxic to brain tumor cells because it prevents polypeptides from growing longer, essentially preventing the polypeptides from growing and reproducing. When used in a specific manner, this toxin has the ability to destroy cancerous and malignant tissue without negatively impacting healthy tissue. In addition to its potential as a cancer treatment, there is also evidence that the therapy could be used for the treatment of Hepatitis B.

PE and Similar Toxins Have been Used Therapeutically in the Past

As of now, this chemical, which we will refer to for the rest of the article as PE, has been used as a cancer treatment before, but there are major limitations regarding the use of PE for particular cancers, not because of the risks of the treatment, but because of the lack of an effective method to deliver the medication to where it is needed.

For example, similar chemicals have been highly effective in the treatment of a large number of blood cancers, but havent been nearly as effective in larger, more inaccessible tumors. The chemicals break down or become metabolized before they can fully do their job.

How do Stem Cells Increase the Effectiveness of PE Cancer Treatment

Right now, PE has to be created in a laboratory before it is administered, which is not very effective for these embedded cancers. By using Stem Cells as an intermediary, it is possible to deliver the medication to deeper areas of the brain more effectively, theoretically highly increasing the efficacy of the treatment.

The leader of this Stem Cell Research is Harvard researcher Dr. Khalis Shah. His goal was to find an effective means to treat these deep brain tumors which are not easily treated by methods available today. In utilizing Stem Cells, Dr. Shah has potentially found a means by which the stem cells can constantly deliver this Cancer Toxin to the tumor area. The cells remain active and are fed by the body, which allows them to provide a steady stream of treatment that is impossible to provide via any other known method.

This research is still in its early stages, and has not yet reached human trials, but in mice, the PE Toxin worked exactly as hypothesized and was able to starve out tumors by preventing them from replicating effectively.

Perhaps this might seem a bit less complicated than it actually is. One of the major hurdles that had to be overcome was that this Toxin would normally be strong enough to kill the cell that hosted it. In order for the Stem Cells to release the cancer, they had to be able to withstand the effects of PE, themselves. Using genetic engineering, Dr. Shah and his associates were able to create a cell that is capable of both producing and withstanding the effects of the toxin.

Stem Cell delivered medical therapy is a 21st century form of medical treatment that researchers are just beginning to learn how to effectively utilize. Essentially, this treatment takes a stem cell and converts it into a unique symbiotic tool capable of feeding off of the host for energy in order to perform a potentially life-saving function. Its really quite fascinating.

How Does PE Not Damage or Kill Brain Cells Indiscriminately?

You might be concerned about the idea of a patient having a toxin injected into the brain to cure a disease. It sounds almost like a dangerous, tribal, homeopathic remedy. In reality, the researchers have been able to harness the destructive power of the toxin and re-engineer it so that it directly targets cancer cells while having limited negative effects on healthy, non-cancerous tissue.

The toxin does its damage after it has been absorbed by a cell. By retooling the toxin so that it does not readily absorb into healthy cells, the dangers associated with having such a potentially dangerous toxin in the brain are seriously and significantly mitigated.

Beyond that, Dr. Shah and his associates have been able to take steps to effectively turn off PE while it is inside the host stem cell, and only activates when it has entered the cancerous tissue. Dr. Shah explains that, although this research has only been conducted in animal subjects, there is no known reason why the effectiveness and safety of the treatment would not be applicable to human patients.

In this treatment, surgeons remove as much of the tumor as possible from the brain, and insert the engineered Stem Cells submerged in a sterile gel in the area where the tumor was removed or partially still exists. Researchers found that, when they used this treatment on laboratory rats, they could tell through imaging and analysis that the modified PE toxin effectively killed the cancer cells, and that this cancer treatment effectively lengthened the life of the rat, as compared to control subjects.

Whats the Next Step?

Of course, cancer treatment is far more complex than a single treatment, no matter how effective that treatment may be. Because human cancer treatment is a comprehensive therapy approach, the end goal of this research is to create a form of therapy in which the method used in animal subjects is combined with other existing approaches, increasing and maximizing the effectiveness of the comprehensive treatment.

Featured post

A recent change in how well we understand stem cells may make it easier for scientists and researchers to gather stem cells for use in scientific research as well as medical application. A new study was released in the research publication, Cell, which was performed by representatives from the University of California San Francisco.

One of the issues which hinder the use of stem cells as a more widespread treatment or field of research is that researchers and patients have a bottleneck of available healthy stem cell lines which can be used for research. Researchers hope that this new discovery will allow future scientific discoveries and applications in the areas of creating new and healthy tissue for patients with kidney failure or any other form of organ tissue failure. The future of medical therapy lies with Stem Cell Research, but many other forms of treatment, including Hormone Replacement Therapy, are already in practice today.

Researchers have discovered that it is possible to essentially flip a switch in an adult cell, reverting it back to the preliminary state at which cells existed in one of the earliest stages of developmentthe embryonic stem cell. Medical researchers hypothesize that Stem Cell treatments could be used for a variety of medical health issues which plague the world today, including kidney failure, liver disease, and Type-1 and Type-2 Diabetes.

Use of Embryonic Stem Cells Contentious

There is an ethical issue in Stem Cell Research today. Many Pro-Life Advocates are vociferously against the use of Embryonic Stem Cells harvested from procedures such as fertility treatments designed for conception. They believe that the use of embryonic stem cells harvested from donors and couples looking to conceive is unethical.

Using current research, it may be possible to bypass this ethical quandary completely by using adult cells and converting them into embryonic stem cells. Furthermore, because these stem cells are genetic derivatives of the patient from which the adult cells were harvested, this potentially paves the way for patient-specific medical treatments using stem cells.

After adult cells have been converted back into Embryonic Stem Cells, it will be possible to convert them into any possible cell that the patient needs or would benefit from.

Hijacking the Blueprint of the Cell Allows Scientists to Revert Adult Cells to their Earliest State

Researchers have increased the capacity to produce Embryonic Stem Cells by identifying previously unrecognized biochemical processes which tell human cells how to develop. In essence, researchers have discovered how the body blueprints cells, and can change the blueprints so that a new cell is made.

By utilizing these newly recognized pathways, it is possible to create new stem cells more quickly than ever before. One of the researchers explains the implications of this research. Dr. Miguel Ramalho-Santos is an associate professor of obstetrics, medicine, and cancer research at the University of California San Francisco. Dr. Ramalho-Santos is also a member of the Broad Center of Regenerative Medicine and Stem Cell Research.

He explains that these stem cell discoveries have the ability to alter the way that the medical sciences can take advantage of stem cells with regard to both cancer research and regenerative medicine. Dr. Ramalho-Santos was the lead researcher for this study, and the research was largely funded by the Director of the National Institutes of Health New Innovator Award, granted to promising young researchers which are leading highly innovative and promising medical research studies.

Dr. Ramalho-Santos research builds off of earlier research which discovered that it was possible to take adult cells and turn them back into embryonic stem cells. These stem cells dont have any inherent aging processes, and they can be turned into any other kind of tissue. In the process of this conversion, the adult cells lose all of their unique characteristics, leaving them in an ultimately immature and malleable state.

This earlier research was conducted by researchers from UC San Francisco in partnership with Dr. Shinya Yamanaka from Kyoto University and Gladstone Institutes. These entities all gained a piece of the Nobel Prize in Physiology or Medicine from their part in the study.

Pluripotent Stem Cells vs. Embryonic Stem Cells

Thus far, weve described these cells as Embryonic Stem Cells, but in fact, the more accurate term for these cells are Induced Pluripotent Stem Cells (IPS). These cells are biologically and functionally similar to Embryonic Stem Cells, but have a different name because they are sourced from adult cells. The difference between Induced Pluripotent Stem Cells and Embryonic Stem Cells is that Induced Pluripotent Stem Cells do seem to retain some of the characteristics of their previous state, which appears to limit their ability to convert into any other type of cell. This new research identifies new pathways by which it may be possible to increase the number of cells that an individual IPS Cell can turn into, perhaps allowing them to convert into any other kind of human cell.

Induced Pluripotent Stem Cells are not explicitly considered an alternative to Embryonic Stem Cells, but are considered a different approach to produce similar cells. If researchers fully uncover the mechanisms of how to reprogram these cells, it will lower many barriers to stem cell research and the availability of stem cell treatments.

As of today, researchers have figured out how to make these Induced Pluripotent Stem Cells, but the percentage of adult cells which are reverted successfully is quite low, and frequently, these cells still show some aspects of specialization, which limits their use.

How Do Scientists Make Stem Cells From Adult Cells?

There are genes within every cell which have the ability to induce pluripotency, reverting the cell to an earlier stage of specialization. The initial stage of this process is the result of activating Yamanaka Factors, specific genes that initiate this reversion process.

As of today, this process of de-maturation is not completely understood, and researchers realized from the start that the cells they created were not truly identical to Embryonic Stem Cells, because they still showed signs of their former lives, which often prevented them from being successfully reprogrammed.

The new research conducted by Dr. Ramalho-Santos appears to increase our knowledge regarding how these cells work, and how to program them more effectively. Dr. Ramalho-Santos and his team discovered more genes associated with these programming/reprogramming processes, and by manipulating them, they have increased the viability and range of particular stem cells.

It appears that these genetic impulses are constantly at play to maintain the structure and function of a cell, and that by systematically removing these safeguards, it is possible to increase the ability to alter these cells.

This research increases researchers ability to produce these stem cells, by increasing the ability of medical scientists to produce adequate numbers of stem cells, while also increasing the range of potential treatment options by more effectively inducing the total pluripotency which is available in Embryonic Stem Cells. This research may also help scientists treat certain forms of cancer which are the result of malfunctions of these genes.

Introduction

[Note: Many of the medical and scientific terms used in this summary are found in the NCI Dictionary of Genetics Terms. When a linked term is clicked, the definition will appear in a separate window.]

[Note: Many of the genes described in this summary are found in the Online Mendelian Inheritance in Man (OMIM) database. When OMIM appears after a gene name or the name of a condition, click on OMIM for a link to more information.]

The genetics of skin cancer is an extremely broad topic. There are more than 100 types of tumors that are clinically apparent on the skin; many of these are known to have familial components, either in isolation or as part of a syndrome with other features. This is, in part, because the skin itself is a complex organ made up of multiple cell types. Furthermore, many of these cell types can undergo malignant transformation at various points in their differentiation, leading to tumors with distinct histology and dramatically different biological behaviors, such as squamous cell carcinoma (SCC) and basal cell cancer (BCC). These have been called nonmelanoma skin cancers or keratinocytic cancers.

Figure 1 is a simple diagram of normal skin structure. It also indicates the major cell types that are normally found in each compartment. Broadly speaking, there are two large compartmentsthe avascular cellular epidermis and the vascular dermiswith many cell types distributed in a largely acellular matrix.[1]

Figure 1. Schematic representation of normal skin. The relatively avascular epidermis houses basal cell keratinocytes and squamous epithelial keratinocytes, the source cells for BCC and SCC, respectively. Melanocytes are also present in normal skin and serve as the source cell for melanoma. The separation between epidermis and dermis occurs at the basement membrane zone, located just inferior to the basal cell keratinocytes.

The outer layer or epidermis is made primarily of keratinocytes but has several other minor cell populations. The bottom layer is formed of basal keratinocytes abutting the basement membrane. The basement membrane is formed from products of keratinocytes and dermal fibroblasts, such as collagen and laminin, and is an important anatomical and functional structure. As the basal keratinocytes divide and differentiate, they lose contact with the basement membrane and form the spinous cell layer, the granular cell layer, and the keratinized outer layer or stratum corneum.

The true cytologic origin of BCC remains in question. BCC and basal cell keratinocytes share many histologic similarities, as is reflected in the name. Alternatively, the outer root sheath cells of the hair follicle have also been proposed as the cell of origin for BCC.[2] This is suggested by the fact that BCCs occur predominantly on hair-bearing skin. BCCs rarely metastasize but can invade tissue locally or regionally, sometimes following along nerves. A tendency for superficial necrosis has resulted in the name rodent ulcer.[3]

Some debate remains about the origin of SCC; however, these cancers are likely derived from epidermal stem cells associated with the hair follicle.[4] A variety of tissues, such as lung and uterine cervix, can give rise to SCC, and this cancer has somewhat differing behavior depending on its source. Even in cancer derived from the skin, SCC from different anatomic locations can have moderately differing aggressiveness; for example, SCC from glabrous (smooth, hairless) skin has a lower metastatic rate than SCC arising from the vermillion border of the lip or from scars.[3]

Additionally, in the epidermal compartment, melanocytes distribute singly along the basement membrane and can transform into melanoma. Melanocytes are derived from neural crest cells and migrate to the epidermal compartment near the eighth week of gestational age. Langerhans cells, or dendritic cells, are a third cell type in the epidermis and have a primary function of antigen presentation. These cells reside in the skin for an extended time and respond to different stimuli, such as ultraviolet radiation or topical steroids, which cause them to migrate out of the skin.[5]

The dermis is largely composed of an extracellular matrix. Prominent cell types in this compartment are fibroblasts, endothelial cells, and transient immune system cells. When transformed, fibroblasts form fibrosarcomas and endothelial cells form angiosarcomas, Kaposi sarcoma, and other vascular tumors. There are a number of immune cell types that move in and out of the skin to blood vessels and lymphatics; these include mast cells, lymphocytes, mononuclear cells, histiocytes, and granulocytes. These cells can increase in number in inflammatory diseases and can form tumors within the skin. For example, urticaria pigmentosa is a condition that arises from mast cells and is occasionally associated with mast cell leukemia; cutaneous T-cell lymphoma is often confined to the skin throughout its course. Overall, 10% of leukemias and lymphomas have prominent expression in the skin.[6]

Epidermal appendages are also found in the dermal compartment. These are derivatives of the epidermal keratinocytes, such as hair follicles, sweat glands, and the sebaceous glands associated with the hair follicles. These structures are generally formed in the first and second trimesters of fetal development. These can form a large variety of benign or malignant tumors with diverse biological behaviors. Several of these tumors are associated with familial syndromes. Overall, there are dozens of different histological subtypes of these tumors associated with individual components of the adnexal structures.[7]

Finally, the subcutis is a layer that extends below the dermis with varying depth, depending on the anatomic location. This deeper boundary can include muscle, fascia, bone, or cartilage. The subcutis can be affected by inflammatory conditions such as panniculitis and malignancies such as liposarcoma.[8]

These compartments give rise to their own malignancies but are also the region of immediate adjacent spread of localized skin cancers from other compartments. The boundaries of each skin compartment are used to define the staging of skin cancers. For example, an in situ melanoma is confined to the epidermis. Once the cancer crosses the basement membrane into the dermis, it is invasive. Internal malignancies also commonly metastasize to the skin. The dermis and subcutis are the most common locations, but the epidermis can also be involved in conditions such as Pagetoid breast cancer.

The skin has a wide variety of functions. First, the skin is an important barrier preventing extensive water and temperature loss and providing protection against minor abrasions. These functions can be aberrantly regulated in cancer. For example, in the erythroderma associated with advanced cutaneous T-cell lymphoma, alterations in the regulations of body temperature can result in profound heat loss. Second, the skin has important adaptive and innate immunity functions. In adaptive immunity, antigen-presenting cells engender a TH1, TH2, and TH17 response.[9] In innate immunity, the immune system produces numerous peptides with antibacterial and antifungal capacity. Consequently, even small breaks in the skin can lead to infection. The skin-associated lymphoid tissue is one of the largest arms of the immune system. It may also be important in immune surveillance against cancer. Immunosuppression, which occurs during organ transplant, is a significant risk factor for skin cancer. The skin is significant for communication through facial expression and hand movements. Unfortunately, areas of specialized function, such as the area around the eyes and ears, are common places for cancer to occur. Even small cancers in these areas can lead to reconstructive challenges and have significant cosmetic and social ramifications.[1]

While the appearance of any one skin cancer can vary, there are general physical presentations that can be used in screening. BCCs most commonly have a pearly rim (see Figure 3) or can appear somewhat eczematous. They often ulcerate (see Figure 3). SCCs frequently have a thick keratin top layer (see Figure 4). Both BCCs and SCCs are associated with a history of sun-damaged skin. Melanomas are characterized by asymmetry, border irregularity, color variation, a diameter of more than 6 mm, and evolution (ABCDE criteria). (Refer to What Does Melanoma Look Like? on NCIs website for more information about the ABCDE criteria.) Photographs representing typical clinical presentations of these cancers are shown below.

Enlarge

Figure 2. Superficial basal cell carcinoma (left panel) and nodular basal cell carcinoma (right panel).

Enlarge

Figure 3. Ulcerated basal cell carcinoma (left panel) and ulcerated basal cell carcinoma with characteristic pearly rim (right panel).

Enlarge

Figure 4. Squamous cell carcinoma on the face with thick keratin top layer (left panel) and squamous cell carcinoma on the leg (right panel).

Enlarge

Figure 5. Melanomas with characteristic asymmetry, border irregularity, color variation, and large diameter.

Basal cell carcinoma (BCC) is the most common malignancy in people of European descent, with an associated lifetime risk of 30%.[1] While exposure to ultraviolet (UV) radiation is the risk factor most closely linked to the development of BCC, other environmental factors (such as ionizing radiation, chronic arsenic ingestion, and immunosuppression) and genetic factors (such as family history, skin type, and genetic syndromes) also potentially contribute to carcinogenesis. In contrast to melanoma, metastatic spread of BCC is very rare and typically arises from large tumors that have evaded medical treatment for extended periods of time. BCCs can invade tissue locally or regionally, sometimes following along nerves. A tendency for superficial necrosis has resulted in the name rodent ulcer. With early detection, the prognosis for BCC is excellent.

Sun exposure is the major known environmental factor associated with the development of skin cancer of all types. There are different patterns of sun exposure associated with each major type of skin cancer (BCC, squamous cell carcinoma [SCC], and melanoma).

While there is no standard measure, sun exposure can be generally classified as intermittent or chronic, and the effects may be considered acute or cumulative. Intermittent sun exposure is obtained sporadically, usually during recreational activities, and particularly by indoor workers who have only weekends or vacations to be outdoors and whose skin has not adapted to the sun. Chronic sun exposure is incurred by consistent, repetitive sun exposure, during outdoor work or recreation. Acute sun exposure is obtained over a short time period on skin that has not adapted to the sun. Depending on the time of day and a persons skin type, acute sun exposure may result in sunburn. In epidemiology studies, sunburn is usually defined as burn with pain and/or blistering that lasts for 2 or more days. Cumulative sun exposure is the additive amount of sun exposure that one receives over a lifetime. Cumulative sun exposure may reflect the additive effects of intermittent sun exposure, chronic sun exposure, or both.

Specific patterns of sun exposure appear to lead to different types of skin cancer among susceptible individuals. Intense intermittent recreational sun exposure has been associated with melanoma and BCC,[2,3] while chronic occupational sun exposure has been associated with SCC. Given these data, dermatologists routinely counsel patients to protect their skin from the sun by avoiding mid-day sun exposure, seeking shade, and wearing sun-protective clothing, although evidence-based data for these practices are lacking. The data regarding skin cancer risk reduction by regular sunscreen use are variable. One randomized trial of sunscreen efficacy demonstrated statistically significant protection for the development of SCC but no protection for BCC,[4] while another randomized study demonstrated a trend for reduction in multiple occurrences of BCC among sunscreen users [5] but no significant reduction in BCC or SCC incidence.[6]

Level of evidence (sun-protective clothing, avoidance of sun exposure): 4aii

Level of evidence (sunscreen): 1aii

Tanning bed use has also been associated with an increased risk of BCC. A study of 376 individuals with BCC and 390 control subjects found a 69% increased risk of BCC in individuals who had ever used indoor tanning.[7] The risk of BCC was more pronounced in females and individuals with higher use of indoor tanning.[8]

Environmental factors other than sun exposure may also contribute to the formation of BCC and SCC. Petroleum byproducts (e.g., asphalt, tar, soot, paraffin, and pitch), organophosphate compounds, and arsenic are all occupational exposures associated with cutaneous nonmelanoma cancers.[9-11]

Arsenic exposure may occur through contact with contaminated food, water, or air. While arsenic is ubiquitous in the environment, its ambient concentration in both food and water may be increased near smelting, mining, or coal-burning establishments. Arsenic levels in the U.S. municipal water supply are tightly regulated; however, control is lacking for potable water obtained through private wells. As it percolates through rock formations with naturally occurring arsenic, well water may acquire hazardous concentrations of this material. In many parts of the world, wells providing drinking water are contaminated by high levels of arsenic in the ground water. The populations in Bangladesh, Taiwan, and many other locations have high levels of skin cancer associated with elevated levels of arsenic in the drinking water.[12-16] Medicinal arsenical solutions (e.g., Fowlers solution and Bells asthma medication) were once used to treat common chronic conditions such as psoriasis, syphilis, and asthma, resulting in associated late-onset cutaneous malignancies.[17,18] Current potential iatrogenic sources of arsenic exposure include poorly regulated Chinese traditional/herbal medications and intravenous arsenic trioxide utilized to induce remission in acute promyelocytic leukemia.[19,20]

Aerosolized particulate matter produced by combustion of arsenic-containing materials is another source of environmental exposure. Arsenic-rich coal, animal dung from arsenic-rich regions, and chromated copper arsenatetreated wood produce airborne arsenical particles when burned.[21-23] Burning of these products in enclosed unventilated settings (such as for heat generation) is particularly hazardous.[24]

Clinically, arsenic-induced skin cancers are characterized by multiple recurring SCCs and BCCs occurring in areas of the skin that are usually protected from the sun. A range of cutaneous findings are associated with chronic or severe arsenic exposure, including pigmentary variation (poikiloderma of the skin) and Bowen disease (SCC in situ).[25]

However, the effect of arsenic on skin cancer risk may be more complex than previously thought. Evidence from in vivo models indicate that arsenic, alone or in combination with itraconazole, can inhibit the hedgehog pathway in cells with wild-type or mutated Smoothened by binding to GLI2 proteins; in this way, these drugs demonstrated inhibition of BCC growth in these animal models.[26,27] Additionally, the effect of arsenic on skin cancer risk may be modified by certain variants in nucleotide excision repair genes (xeroderma pigmentosum [XP] types A and D).[28]

The high-risk phenotype consists of individuals with the following physical characteristics:

Specifically, people with more highly pigmented skin demonstrate lower incidence of BCC than do people with lighter pigmented skin. Individuals with Fitzpatrick skin types I or II were shown to have a twofold increased risk of BCC in a small case-control study.[29] (Refer to the Pigmentary characteristics section in the Melanoma section of this summary for a more detailed discussion of skin phenotypes based upon pigmentation.) Blond or red hair color was associated with increased risk of BCC in two large cohorts: the Nurses Health Study and the Health Professionals Follow-Up Study.[30]

Immunosuppression also contributes to the formation of nonmelanoma (keratinocyte) skin cancers. Among solid-organ transplant recipients, the risk of SCC is 65 to 250 times higher, and the risk of BCC is 10 times higher than in the general population.[31-33] Nonmelanoma skin cancers in high-risk patients (i.e., solid-organ transplant recipients and chronic lymphocytic leukemia patients) occur at a younger age and are more common, more aggressive, and have a higher risk of recurrence and metastatic spread than nonmelanoma skin cancers in the general population.[34,35] Among patients with an intact immune system, BCCs outnumber SCCs by a 4:1 ratio; in transplant patients, SCCs outnumber BCCs by a 2:1 ratio.

This increased risk has been linked to the level of immunosuppression and UV exposure. As the duration and dosage of immunosuppressive agents increases, so does the risk of cutaneous malignancy; this effect is reversed with decreasing the dosage of, or taking a break from, immunosuppressive agents. Heart transplant recipients, requiring the highest rates of immunosuppression, are at much higher risk of cutaneous malignancy than liver transplant recipients, in whom much lower levels of immunosuppression are needed to avoid rejection.[31,36] The risk appears to be highest in geographic areas of high UV radiation exposure: when comparing Australian and Dutch organ transplant populations, the Australian patients carried a fourfold increased risk of developing SCC and a fivefold increased risk of developing BCC.[37] This speaks to the importance of rigorous sun avoidance among high-risk immunosuppressed individuals.

Individuals with BCCs and/or SCCs report a higher frequency of these cancers in their family members than do controls. The importance of this finding is unclear. Apart from defined genetic disorders with an increased risk of BCC, a positive family history of any skin cancer is a strong predictor of the development of BCC.

A personal history of BCC or SCC is strongly associated with subsequent BCC or SCC. There is an approximate 20% increased risk of a subsequent lesion within the first year after a skin cancer has been diagnosed. The mean age of occurrence for these nonmelanoma skin cancers is the mid-60s.[38-43] In addition, several studies have found that individuals with a history of skin cancer have an increased risk of a subsequent diagnosis of a noncutaneous cancer;[44-47] however, other studies have contradicted this finding.[48-51] In the absence of other risk factors or evidence of a defined cancer susceptibility syndrome, as discussed below, skin cancer patients are encouraged to follow screening recommendations for the general population for sites other than the skin.

Mutations in the gene coding for the transmembrane receptor protein PTCH1, or PTCH, are associated with basal cell nevus syndrome (BCNS) and sporadic cutaneous BCCs. PTCH1, the human homolog of the Drosophila segment polarity gene patched (ptc), is an integral component of the hedgehog signaling pathway, which serves many developmental (appendage development, embryonic segmentation, neural tube differentiation) and regulatory (maintenance of stem cells) roles.

In the resting state, the transmembrane receptor protein PTCH1 acts catalytically to suppress the seven-transmembrane protein Smoothened (Smo), preventing further downstream signal transduction.[52] Stoichiometric binding of the hedgehog ligand to PTCH1 releases inhibition of Smo, with resultant activation of transcription factors (GLI1, GLI2), cell proliferation genes (cyclin D, cyclin E, myc), and regulators of angiogenesis.[53,54] Thus, the balance of PTCH1 (inhibition) and Smo (activation) manages the essential regulatory downstream hedgehog signal transduction pathway. Loss-of-function mutations of PTCH1 or gain-of-function mutations of Smo tip this balance toward constitutive activation, a key event in potential neoplastic transformation.

Demonstration of allelic loss on chromosome 9q22 in both sporadic and familial BCCs suggested the potential presence of an associated tumor suppressor gene.[55,56] Further investigation identified a mutation in PTCH1 that localized to the area of allelic loss.[57] Up to 30% of sporadic BCCs demonstrate PTCH1 mutations.[58] In addition to BCC, medulloblastoma and rhabdomyosarcoma, along with other tumors, have been associated with PTCH1 mutations. All three malignancies are associated with BCNS, and most people with clinical features of BCNS demonstrate PTCH1 mutations, predominantly truncation in type.[59]

Truncating mutations in PTCH2, a homolog of PTCH1 mapping to chromosome 1p32.1-32.3, have been demonstrated in both BCC and medulloblastoma.[60,61] PTCH2 displays 57% homology to PTCH1, differing in the conformation of the hydrophilic region between transmembrane portions 6 and 7, and the absence of C-terminal extension.[62] While the exact role of PTCH2 remains unclear, there is evidence to support its involvement in the hedgehog signaling pathway.[60,63]

BCNS, also known as Gorlin Syndrome, Gorlin-Goltz syndrome, and nevoid basal cell carcinoma syndrome, is an autosomal dominant disorder with an estimated prevalence of 1 in 57,000 individuals.[64] The syndrome is notable for complete penetrance and extremely variable expressivity, as evidenced by evaluation of individuals with identical genotypes but widely varying phenotypes.[59,65] The clinical features of BCNS differ more among families than within families.[66] BCNS is primarily associated with germline mutations in PTCH1, but families with this phenotype have also been associated with alterations in PTCH2 and SUFU.[67-69]

As detailed above, PTCH1 provides both developmental and regulatory guidance; spontaneous or inherited germline mutations of PTCH1 in BCNS may result in a wide spectrum of potentially diagnostic physical findings. The BCNS mutation has been localized to chromosome 9q22.3-q31, with a maximum logarithm of the odd (LOD) score of 3.597 and 6.457 at markers D9S12 and D9S53.[64] The resulting haploinsufficiency of PTCH1 in BCNS has been associated with structural anomalies such as odontogenic keratocysts, with evaluation of the cyst lining revealing heterozygosity for PTCH1.[70] The development of BCC and other BCNS-associated malignancies is thought to arise from the classic two-hit suppressor gene model: baseline heterozygosity secondary to germline PTCH1 mutation as the first hit, with the second hit due to mutagen exposure such as UV or ionizing radiation.[71-75] However, haploinsufficiency or dominant negative isoforms have also been implicated for the inactivation of PTCH1.[76]

The diagnosis of BCNS is typically based upon characteristic clinical and radiologic examination findings. Several sets of clinical diagnostic criteria for BCNS are in use (refer to Table 1 for a comparison of these criteria).[77-80] Although each set of criteria has advantages and disadvantages, none of the sets have a clearly superior balance of sensitivity and specificity for identifying mutation carriers. The BCNS Colloquium Group proposed criteria in 2011 that required 1 major criterion with molecular diagnosis, two major criteria without molecular diagnosis, or one major and two minor criteria without molecular diagnosis.[80] PTCH1 mutations are found in 60% to 85% of patients who meet clinical criteria.[81,82] Most notably, BCNS is associated with the formation of both benign and malignant neoplasms. The strongest benign neoplasm association is with ovarian fibromas, diagnosed in 14% to 24% of females affected by BCNS.[74,78,83] BCNS-associated ovarian fibromas are more likely to be bilateral and calcified than sporadic ovarian fibromas.[84] Ameloblastomas, aggressive tumors of the odontogenic epithelium, have also been proposed as a diagnostic criterion for BCNS, but most groups do not include it at this time.[85]

Originally posted here: IPS Cell Therapy IPS Cell Therapy

Read the original here:
IPS Cell Therapy IPS Cell Therapy - genetherapy.me

Photo of Jonathan Pitre and his mother, Tina Boileau, taken in Minnesota. Tina Boileau / -

Doctors in a Minnesota hospital continue to search for answers to a mysterious infection that has left Jonathan Pitre feverish, nauseated and short of breath.

Pitre, 17, of Russell, has been in the University of Minnesota Masonic Childrens Hospital for the past two weeks, suffering from an array of complications more two months after his stem cell transplant. Doctors are also trying to adjust his medications to better deal with his increased pain levels.

Hes having a tough run, said his mother, Tina Boileau, and I really dont know when it will get better.

The teenager suffers from a severe form of epidermolysis bullosa (EB), a painful and progressive skin disease that has left deep, open wounds on his body.

Last week, Pitres face and neck became swollen in response to what doctors believed was some kind of viral infection. That swelling has been brought under control, but a battery of tests has yet to reveal the source of the infection, which continues to cause problems.

Pitres breathing is laboured and hes running a high-grade fever of about 104 F (40 C); he has also developed bleeding and painful sores in his mouth.

We still have no idea what were dealing with, said Boileau. Its frustrating because Im at the point where it would be nice to see that all that Jonathan has gone through has been worth it.

Doctors are monitoring Pitre for graft-versus-host-disease (GVHD), but all of his tests have so far been inconclusive.Anyone who receives stem cells from another person is at risk of developing GVHD, a condition in which the donors white blood cells turn on the patients own tissues and attack them as foreign. It can range from mild to life-threatening.

About one-third of the almost 50 EB patients who have had a stem cell transplant at the Masonic Childrens Hospital have experienced the condition.

Pitre checked back into hospital earlier this month just three days after being released following a stem cell transplant that had successfully taken root in his bone marrow. Bone marrow stem cells produce most of the bodys blood cells, and are responsible for arming its immune system.

Pitre has been in Minnesota since mid-February to undergo the transplant, his second. The first ended in disappointment on Thanksgiving Day last year.

Tests show Pitres latest transplant remains fully engrafted, and there are signs that it has started to improve the condition of his skin.

Originally posted here:
Jonathan Pitre still ailing as doctors search for answers - Ottawa Citizen

Richard Sennott, Star Tribune file During a family portrait in 2000, Molly Nash gives her 4-week-old brother, Adam, a kiss. Molly Nash received some umbilical blood from her brother, saving her from a fatal genetic disease.

Adam Nash was dubbed Little Frankenstein by the New York Post in 2000 because he was conceived via in vitro fertilization specifically so doctors at the University of Minnesota could collect stem cells from his umbilical cord blood to save his sister, Molly.

Today, back home in Colorado, Adam has a drivers license and helps disabled children ski. His sister once weeks from death due to a condition called Fanconi anemia is debating whether to focus on oceanography or graphic design in college. And IVF to produce an ideal child for a siblings stem cell transplant is common, albeit with lingering ethics concerns.

A squirrelly trio of teens is vindication for Adams mother, Lisa Nash, who felt the weight of the ethical questions when the Us Dr. John Wagner suggested IVF in 1995.

View post:
'Little Frankenstein,' conceived so Minnesota doctors could save sister, is now a happy teen - Minneapolis Star Tribune

Bellicum Pharmaceuticals Inc (NASDAQ: BLCM) was at its volatile best all this week. After a 14-percent gain Monday, the stock pulled back slightly Tuesday and retreated by less than 2 percent Wednesday.

It rallied over 10 percent Thursday, only to slip by about 7 percent Friday amid the Bellicum's presentation at the European Hematology Association conference, in Spain.

Bellicum Pharma is into the business of developing cellular immunotherapies for various forms of cancer, including both hematological and solid tumors, as well as orphan inherited blood disorder.

Following Bellicum's update at the EHA meeting, Cantor Fitzgerald said the company announced additional data from its ongoing phase 1/2 study with BPX-501 in patients receiving blood stem cell transplant due to malignant and non-malignant blood diseases. The data provided in the update was from 98 patients at 180-days of follow up or greater, as opposed to the 81 number reported previously in the abstract.

Giving the key takeaways, analysts Elemer Piros and Justin Kim said:

GvHD occurs after the transplant of a bone marrow or stem cell belonging to another individual, as the transplanted cells treat the recipient's body as foreign and attack it.

Detailing the data, Cantor Fitzgerald said BPX-501 treatment led to a 5-percent rate of transplant-related mortality, with a 3-percent non-relapse mortality and 15-percent disease relapse rate among malignant disease patients. The performance of the patients, according to the firm, was well above historical matched unrelated donor, or MUD, publications. The results of the study showed 6878 percent 1-year overall survival.

Source: Bellicum Pharma

The firm reminded that the E.U. primary endpoint of the study would assess event-free survival composite of death, GvHD and infection at six months compared with approximately 40 matched MUD patients.

"We expect the observation MUD study, which is in the process of being initiated, to provide relevant context for BPX-501," the firm said.

The firm estimates that an additional $100 million in capital is required to reach commercialization, which it thinks could be sourced from potential licensing fees or from issuing new equity.

A such, Cantor Fitzgerald reiterated its Overweight rating on the shares of Bellicum and the $35 price target it has for its shares.

At time of writing, Bellicum shares were down a steep 7.33 percent at $12.95.

Related Links:

Tracking The Busy June PDUFA Calendar

2 Reasons Vertex Pharmaceuticals Just Got Upgraded

View More Analyst Ratings for BLCM View the Latest Analyst Ratings

Posted-In: Analyst Color Biotech Long Ideas News Reiteration Events Analyst Ratings Movers Best of Benzinga

2017 Benzinga.com. Benzinga does not provide investment advice. All rights reserved.

See original here:
Despite A Volatile Trading Week, Bellicum's EHA Presentation Merits A Second Look - Benzinga