A study which had claimed to have come up with a new fast, easy, inexpensive and uncontroversial method of produce stem cells has now been retracted.

According to CNN, scientists had taken a skin cell and coaxed it into acting like an embryo, producing embryonic-like stem cells that could theoretically be turned into any cell in the body. What was described as a 'breakthrough' is how these cells were coaxed, by placing them in an acidic bath.

But the researchers, who had announced the results in January 2014, have now stated in their retraction that their papers had "several critical errors" in their study data.

An investigation into the studies was started by the Riken Center for Developmental Biology in Japan in February 2014, and the institution said its investigators had "categorized some of the errors as misconduct."

In fact, one of the co-authors of the study had also called for a retraction in March, because he questioned some of the data that were used in the experiments, which led to the creation of so-called STAP cells (or stimulus-triggered acquisition of pluripotency cells).

In an editorial accompanying the retraction, it was written that the errors were found in the figures, parts of the methods descriptions were found to be plagiarized, and early attempts to replicate the work failed.

The investigation found that data supposedly representing different cells and different embryos in the study were actually describing the same cells and the same embryos.

The study was published in the journal Nature, which is now accompanied by the retraction of all co-authors.

(Posted on 03-07-2014)

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Results for 'breakthrough' stem cell study taken back

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Even as cancer therapies improve, basic questions about drug resistance, tumour spread and the role of normal tissue remain unanswered

BRENDAN MONROE

In 1996, Charles Sawyers designed early clinical trials for one of the first drugs aimed at a cancer-specific genetic mutation. The drug was imatinib, the cancer was chronic myeloid leukaemia and Sawyers a clinical oncologist at the Memorial Sloan Kettering Cancer Center in New York saw patients who had been debilitated by the disease rapidly improve when given the medicine. It was unbelievably satisfying, he says.

Unfortunately, he then saw many of those cancers come roaring back as they became resistant to the drug.

The experience with imatinib has given cancer biologists mixed messages. The medicine, now marketed by Novartis in Basel, Switzerland, as Gleevec or Glivec, highlights the potential of personalized medicine. Figuring out what mutation caused the disease and designing a drug to target it was a technological triumph, and it was followed by two further drugs to combat the emerging drug resistance.

But treating cancer by chasing mutation after mutation with drug after expensive drug is not a sustainable model not least because few cancers other than leukaemia have simple, known genetic causes. When we know the mutations and can get to a treatment strategy it's exciting, says Sawyers. But so far in the age of gene sequencing, he adds, we've grabbed the low-hanging fruit.

Biologists now know a huge amount about cancer much more than they did even ten years ago. About 500 genes have been implicated in the disease, and the list is growing. There are also about 100 approved cancer drugs, some of which, like imatinib, specifically target mutations in those genes, on top of older therapies such as surgery and radiation.

But all this knowledge is not enough: even in countries where people have access to the newest therapies, improvements in death rates have slowed. Up to half of cancers could be prevented by changes in diet and exercise, encouraging people to stop smoking and eliminating environmental risks such as pollution, but other gains will be harder. To conquer cancer, researchers will need to answer some basic scientific questions. Here, Nature looks at three of the most pressing.

How Can Drug Resistance be Overcome? To combat resistance, researchers are studying the cancer genome, coming up with new ways to design drugs, concocting combination therapies and even looking back to Darwin's theory of evolution.

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Biology: Three Known Unknowns

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Reverse Engineering Animal Vision with Virtual Reality and Genetics
This overview video shows the FlyVR system in operation and includes four example experiments. From Computer #39;s July 2014 issue: http://www.computer.org/csdl/...

By: ieeeComputerSociety

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Reverse Engineering Animal Vision with Virtual Reality and Genetics - Video

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Like a line of falling dominos, a cascade of molecular events in the bone marrow produces high levels of inflammation that disrupt normal blood formation and lead to potentially deadly disorders including leukemia, an Indiana University-led research team has reported.

The discovery, published by the journal Cell Stem Cell, points the way to potential new strategies to treat the blood disorders and further illuminates the relationship between inflammation and cancer, said lead investigator Nadia Carlesso, M.D., Ph.D., associate professor of pediatrics at the Indiana University School of Medicine.

Bone marrow includes the cells that produce the body's red and white blood system cells in a process called hematopoiesis. The marrow also provides a support system and "home" for the blood-producing cells called the hematopoietic microenvironment. The new research demonstrates the importance of the hematopoietic microenvironment in the development of a group of potentially deadly diseases called myeloproliferative disorders.

"It has been known for years that there are links between inflammation and cancer, but these studies have been challenged by the lack of genetic models, especially for blood-based malignancies," said Dr. Carlesso, a member of the hematologic malignancy and stem cell biology program within the Wells Center for Pediatric Research at IU.

The researchers focused on what happens when there are abnormally low levels of a molecule called Notch, which plays an important role in the process of blood cell production. Using a genetically modified mouse, they found that the loss of Notch function in the microenvironment causes a chain of molecular events that result in excess production of inflammatory factors.

The high levels of inflammation in the bone marrow were associated with the development of a myeloproliferative disorder in the mice. Myeloproliferative diseases in humans can result in several illnesses caused by overproduction of myeloid cells, which are normally are used to fight infections. These diseases can put patients at risk for heart attack or stroke, and frequently progress into acute leukemia and bone marrow failure, which have fatal outcomes. Unfortunately, there are no effective therapies for the majority of myeloproliferative diseases.

When Dr. Carlesso's team blocked the activity of one of the molecules in this biochemical cascade, the myeloproliferative disorder in the mice was reversed. In addition, elevated levels of the blocked molecule were found in samples from human patients with myeloproliferative disease. These findings suggest that developing drugs that target this inflammatory reaction at different key points could be a promising strategy to limit the development of myeloproliferative disease in humans.

The molecular cascade leading to inflammation was not occurring directly in the bone marrow cells that produce blood cells, but in cells of the bone marrow microenvironment, especially in endothelial cells that line the capillaries -- tiny blood vessels -- inside the bone marrow. This was a key discovery, Dr. Carlesso said.

"This work indicates that we need to target not only the tumor cells, but also the inflammatory microenvironment that surrounds them and may contribute to their generation," she said.

"We believe that this combined strategy will be more effective in preventing myeloproliferative disease progression and transformation in acute leukemias."

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Biochemical cascade causes bone marrow inflammation, leading to serious blood disorders

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When an aging Hollywood action star or sex symbol reemerges after a long hiatus looking younger, with a great body and smoother, firmer facial skin, people now assume they have undergone stem cell therapy.

In my interview with doctors Eric and Anna Yalung of Regenestem Manila, they set me straight. While the actor/actress may have had stem cell therapy, the outward appearance is most likely a combination of Botox, plastic surgery, a strict diet and a personal trainer. So no doctor who only offers you stem cell can promise you outwardly beautifying results.

This is not to say though that there are no beauty benefits from it. For the beauty aspect, they do this for facial skin rejuvenation and hair growth. According to head dermatologist Anna Yalung, they inject the target area and, if necessary, combine it with services available at the clinic for best results and to speed up the process.

Shots are spaced a week to a month apart depending on treatment requirement for three sessions. The follow-up is scheduled the following year.

How is it done? Platelet Rich Plasma (PRP) is a convenient and cell-based treatment. It is a simple procedure involving the extraction of blood, separation of platelets and administering the PRP to the desired area.

This is done in order to stimulate or promote healing, collagen synthesis for anti-aging, or to deliver proper oxygenation to muscles or tissues. A crucially important function of platelets is the release of various growth factors responsible for almost all repair processes that occur in the body.

Dr. Eric Yalung, who has conducted PRP treatments with Dr. Joseph Purita, world-renowned pioneer in stem cell orthopedic surgery, will spearhead PRP therapy for arthritis, sports injuries, anti-aging, hair growth, facial rejuvenation and pain management. Yalung clears that it is not a cure-all. It wont make you thinner or outwardly younger by itself. Its main purpose is improving the quality of ones life and the highest success rates are for those who are suffering from osteoarthritis; degenerative diseases like diabetes, multiple sclerosis, Parkinsons and Alzheimers; sports injuries and pain management.

Regenestems team of four physicians do not work with embryonic stem cells, only with adult stem cells. Adult stem cells are found in all tissues of the growing human being and, according to latest reports, also have the potential to transform themselves into practically all other cell types, or revert to being stem cells with greater reproductive capacity.

The clinic also provides the option for patient treatments in Regenestem clinics worldwide (US, Mexico, Argentina, and Dubai), and includes assistance in hotel and travel plans.

Regenestem Manila is at 2/F, Belson House, 271 Edsa, Mandaluyong City; tel. 2452200. Visit http://www.regenestemasia.com

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Can stem cells really restore your youthful looks?

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July 3, 2014

redOrbit Staff & Wire Reports Your Universe Online

A new process known as somatic cell nuclear transfer is far better and much more accurate when it comes to coaxing embryonic stem cells out of human skin tissue, according to new research appearing in Tuesdays edition of the journal Nature.

Scientists from Oregon Health & Science University (OHSU), the University of California-San Diego (UCSD) School of Medicine and the Salk Institute for Biological Studies created stem cells using two different methods: nuclear transfer, which involves moving genetic material from a skin cell into an empty egg cell, and a more traditional method in which activating a small number of genes reverts adults cells back to an embryonic state.

Experts believe that stem cell therapies could someday be used to replace human cells damaged through injury or illness, including spinal cord injuries, diabetes, Parkinsons disease and multiple sclerosis. Human embryonic stem cells (ES cells), which are cells cultured from discarded embryos, are viewed by scientists as the gold standard of the field, and the new study reports that somatic cell nuclear transfer (SCNT) more closely resembled ES cells.

This marks the first time that researchers had directly compared the SCNT method with the induced pluripotent stem cell (iPS cell) technique, and in a statement, co-senior author and UCSD assistant professor in reproductive medicine Dr. Louise Laurent explained that the nuclear transfer ES cells were more completely reprogrammed and had fewer alterations in gene expression and DNA methylation levels than the iPS cells.

Access to actual human embryonic stem cells (hESCs) has been limited in the US due to ethical and logistical issues, forcing researchers to devise other methods to create stem cells, the study authors explained. Typically, that means creating iPS cells by taking adult cells and adding in a mixture of genes that regress those cells to a pluripotent stem-cell state. Those cells can then be coaxed into cells resembling those found in the heart or brain.

Over the past year, however, an OHSU-led team of researchers have built upon somatic cell nuclear transfer (the same technique used for cloning organisms) to transplant the DNA-containing nucleus of a skin cell into an empty human egg. Once completed, the combination naturally matures into a group of stem cells.

For the first time, the OHSU, UCSD and Salk Institute researchers conducted a direct, in-depth comparison of the two different methods. They created four nuclear transfer ES cell lines and seven iPS cell lines using the same skin cells as the donor genetic material source, and then compared them to a pair of standard human ES lines.

A battery of standard tests revealed that all 13 cell lines were shown to be pluripotent. However, when the researchers used powerful genomic techniques to take a closer look at the DNA methylation (a biochemical process responsible for turning genes on or off) and the gene expression signatures of each cell line, they discovered that the nuclear transfer ES cells more closely resembled those of ES cells than did iPS cells in both characteristics.

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Nuclear Transfer Proven An Effective Method In Stem Cell Production

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hide captionThe heart beats in a mouse embryo grown with stem cells made from blood. Now the research that claimed a simple acid solution could be used to create those cells has been retracted.

The heart beats in a mouse embryo grown with stem cells made from blood. Now the research that claimed a simple acid solution could be used to create those cells has been retracted.

A prestigious scientific journal Wednesday took the unusual step of retracting some high-profile research that had generated international excitement about stem cell research.

The British scientific journal Nature retracted two papers published in January by scientists at the Riken research institute in Japan and at Harvard Medical School that claimed that they could create stem cells simply by dipping skin and blood cells into acid.

The claim raised the possibility of being able to use the cells to easily make any kind of cell in the body to treat many diseases and generated international media coverage, including some on Shots.

But other scientists almost immediately raised questions about the papers, and investigators eventually found that the research papers contained many errors. In April, Riken even concluded that Haruko Obokata, the main Japanese scientist, was guilty of scientific misconduct.

The scientists involved in the work, including Charles Vacanti at the Harvard-affiliated Brigham and Women's Hospital in Boston, issued statements regretting the problems with the papers and agreeing that they should be retracted.

"I am deeply saddened by all that has transpired, and after thoughtful consideration of the errors presented in the Riken report and other concerns that have been raised, I have agreed to retract the papers," Vacanti wrote in a statement.

But Vacanti and Obokata said they still believed their techniques could work. In fact, Riken recently agreed to allow Obokata to participate in an experiment aimed at attempting to reproduce the original results.

For its part, the journal Nature said it was reviewing its policies to try to prevent future flawed papers from being published and published retractions of the two original papers as well as the editorial that accompanied them.

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Easy Method For Making Stem Cells Was Too Good To Be True

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It was hailed as a fast, easy, inexpensive and uncontroversial way to produce stem cells.

Scientists took a skin cell and coaxed it into acting like an embryo, producing embryonic-like stem cells that could theoretically be turned into any cell in the body. What was described as a "breakthrough" is how these cells were coaxed -- by placing them in an acidic bath.

The process was developed primarily by researchers at the Riken Center for Developmental Biology in Japan.

But five months after their studies were published in the journal Nature, researchers are retracting the results.

"Several critical errors have been found in our article," they write in their retraction, which the journal published Wednesday.

An investigation into the studies was started by the Riken Center in February. The institution said its investigators "categorized some of the errors as misconduct."

This is not a complete surprise. One of the co-authors of the study called for a retraction in March, because he questioned some of the data that were used in the experiments, which led to the creation of so-called STAP cells (or stimulus-triggered acquisition of pluripotency cells).

In an editorial accompanying the retraction, Nature said that "errors were found in the figures, parts of the methods descriptions were found to be plagiarized, and early attempts to replicate the work failed."

The investigation found that data supposedly representing different cells and different embryos in the study were actually describing the same cells and the same embryos.

"All co-authors of both papers have finally concluded that they cannot stand behind the papers, and have decided to retract them," according to Nature.

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'Breakthrough' stem cell study retracted

Recommendation and review posted by Bethany Smith

When two scientific papers, published in the journal Nature in January, described an inexpensive, uncontroversial and quick method of creating stem cells, it was hailed as a path-breaking discovery.

However, five months later, the research stands discredited after Nature retracted the papers Wednesday, and the study's inclusion in the prestigious journal has cast doubts on its peer-review process. In a retraction published by Nature, the researchers admitted that several critical errors had been found in the article, and that these multiple errors impair the credibility of the study as a whole.

In the research papers published in January, scientists from the Riken Centre for Developmental Biology in Japan had described a process to convert mature skin cells into pluripotent stem cells. Pluripotent stem cells are embryonic -- like stem cells that can be grown into any kind cell, tissue or organ. The method described in the papers was fairly straightforward and involved immersing the cells in an acid bath to create what the researchers called Stimulus Triggered Acquired Pluripotency Stem Cells, or STAP-SC.

Currently, there are only two ways to create stem cells. One involves extracting stem cells from the embryo, which results in its destruction and is therefore considered controversial. The other method requires the insertion of DNA into adult cells and is extremely expensive. Furthermore, the stem cells created through the second method are unstable and mostly unviable due to the presence of foreign genetic material.

Since the method described in the papers did not require the destruction of an embryo or the insertion of foreign DNA, it was heralded as a revolutionary new breakthrough in stem-cell technology. However, soon after the publication of the papers, a number of errors came to light.

One of the scientists involved in the research, Teruhiko Wakayama, also called for a retraction in March. This led to an internal investigation by the Riken Centre, which found in April that the studys lead author, Haruko Obokata, had misrepresented data in her research papers.

In an editorial accompanying the retraction published Wednesday, Nature stated that the all co-authors of both the papers had finally concluded that they cannot stand behind the papers, and have decided to retract them. The editorial also stated that the episode disclosed flaws in Natures procedures, and expressed the need to move quality assurance higher up on its agenda.

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"Acid Bath Stem Cell" Breakthrough Debunked, Nature Retracts Papers

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The POSITIVE project will focus on the development and establishment of a procedure to automate the first step of manufacturing of Ovasave, TxCells lead innovative, personalized cellular immunotherapy for severe refractory Crohns disease patients. Biosafes Sepax system will enable the automated and standardized separation of mononuclear white blood cells for the production of cellular immunotherapy.

This collaborative project, accredited by the French competitive cluster Eurobiomed, is supported by APRF funding (Appel Projet Recherche Finalise), from the Conseil Rgional Provence-Alpes-Cte-Dazur. The grant totals EUR 417,000, of which TxCell will receive a grant of EUR 250,000 and UTCG will receive EUR 167,000. Both grants will be for the performance of experiments by TxCell and UTCG and the optimization of the resulting new automated and standardized procedure. Biosafe will also utilise its Sepax technology expertise and know-how to optimize the dedicated software and protocol.

Participating in the POSITIVE project, and automating the TxCell manufacturing process for Ovasave is very important to us following the partnership with Ferring announced earlier this year with a potential value of EUR 76 million plus royalties, said Damian Marron, CEO, TxCell. Working with our highly qualified partners from UTCG and Biosafe, and backed by the Conseil Rgional Provence-Alpes-Cte-Dazur, Ovasave will be able to pave the way for scale up, industrialisation and commercialisation of cellular immunotherapies for TxCell, other biotech companies and public institutions. This is the next step following the announcement of our certification of GMP by the ANSM.

The process developed by the POSITIVE project will be applicable to a wide range of other cellular immunotherapies, allowing to overcome the constraints of manual methods and to move towards standardized large scale manufacturing in closed systems.

The industrialization of cellular immunotherapies is crucial for those operating in the sector as well as for TxCell, said Eric Pottier, VP Supply Chain at TxCell. New industrial tools are needed to enable commercial scale manufacturing. This could make cellular immunotherapies available to the large number of patients with a variety of conditions with unmet medical need that are waiting for innovative therapeutic options.

About TxCell

TxCell is developing innovative personalized cell-based immunotherapies for the treatment of severe chronic inflammatory diseases with high medical need using its unique and proprietary ASTrIA technology platform based on the properties of autologous antigen-specific regulatory T lymphocytes (Ag-Tregs). The company has completed a phase I/IIa study of its lead product candidate, Ovasave in refractory Crohns disease patients and has reported good tolerability and positive clinical efficacy. The company plans to initiate a phase IIb study in the same patient population. TxCell has a strategic partnership for Ovasave with the Swiss company Ferring International Center. Listed on Euronext-Paris, TxCell, a spin-off of Inserm (Frances National Institute for Health and Medical Research) is located in the Sophia Antipolis technology park, Nice, France. The company has 38 employees based at its headquarters and at its manufacturing site in Besanon.

For more information, please visitwww.txcell.com

Practical Information about TxCell shares: ISIN code FR0010127662 Ticker code TXCL

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TxCell to lead POSITIVE project to automate first production step of Ovasave, its lead personalised cellular ...

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July 3, 2014

redOrbit Staff & Wire Reports Your Universe Online

A gene acquired from an extinct cousin of modern humans is responsible for helping Tibetans adapt to high altitudes, according to new research published online by the weekly science journal Nature on Wednesday.

Scientists from the University of California, Berkeley and Chinese genomics organization BGI-Shenzen found that Tibetans acquired the ability when their ancestors mated with Denisovans or individuals related to the now-extinct species. This is said to be the first time that a gene originating from a different species has been essentially proven to have helped modern humans adapt to the environment around them.

The variant in question is involved with the regulation of hemoglobin production in the body, affecting the molecule that is responsible for transporting oxygen in the blood. It became widespread several thousands of years ago, when Tibetans first relocated to the high-altitude plateau, and has allowed them to survive at elevations of more than 15,000 feet, despite the lack of oxygen and the tendency for people to develop cardiovascular problems.

We have very clear evidence that this version of the gene came from Denisovans, a human relative that went extinct about the same time as Neanderthals, approximately 40,000 to 50,000 years ago, principal author and UC Berkeley integrative biology professor Rasmus Nielsen explained in a statement. This shows very clearly and directly that humans evolved and adapted to new environments by getting their genes from another species.

In their study, Nielsen and his colleagues re-sequenced the area surrounding EPAS1, a hypoxia pathway gene previously liked to differences in hemoglobin concentration at high altitude, in 40 Tibetan and 40 Han individuals. They discovered that, in Tibetans, the gene possessed a highly differentiated haplotype previously observed only in the Denisovan genome, one Southern Han Chinese individual, and one Beijing Han Chinese individual.

According to the researchers, EPAS1 is activated when oxygen levels in the blood decrease, and triggers the production of more hemoglobin. It has also been called the superathlete gene, because some variants of it can help athletes quickly boost the oxygen-carrying capacity of their blood at low altitudes, thus increasing their endurance.

However, at high altitudes, the common variants boost hemoglobin too much, increasing the bloods thickness and increasing the risk of high blood pressure, heart attack, low birth weight in babies, and higher infant mortality rates. The variant found in Tibetans, however, only increases hemoglobin levels slightly at higher elevations, meaning that they are immune to the side effects typically experienced by people at heights of over 13,000 feet.

The Denisovan-like DNA we found in the genome of Tibetans implied that the adaptation to local environments could be facilitated by gene-flow from other hominins who have been adapted to such environments, said BGI-Shenzen scientist Xin Jin. This unique finding may help us re-examine the similar fast-evolution cases in the future.

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Tibetans Acquired Altitude Adaptation Genes From Ancient Human Relatives

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ICGEB 19th symposium 2014
Photos from 19th symposium 2014.

By: International Centre for Genetic Engineering and Biotechnology

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ICGEB 19th symposium 2014 - Video

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Mysore, July 3, 2014, DHNS:

Rajya Sabha member Prof Rajiv Gowda onThursday asserted that there were many advantages to mankind through the study of genes.

Addressing the gathering of researchers at the opening of Know Your Genome, a laboratory, at RaniBahadurAuditorium in the city, Gowda said, the findings of genetic engineering was laudable, especially in protecting ones health.

However, there were also dangers of misusing the same, eventually leading to legal complications.

Though the study of genetics was exorbitant, there were still ways to reach the same to the common man.

Visiting Professor of IISc, Bangalore,HARanganath stressed that genetics studies be included in the syllabus to equip the students with the basics of the subject.

Ranganath exhorted the University of Mysore to start a department and research centre in genetics studies, to produce a pool of young experts. The lab

A dedicated laboratory was been opened in Vijayanagar in the city on Thursday.

The lab, Know your genome helps one ascertain the diseases he/she can be afflicted with in advance, and the required treatment.

According to its founderAvinash Veerappa, said that tests will be conducted in two levels by collecting samples of blood and mucus.

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Genetic engineering paving way for futuristic healthcare

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Newswise (NEW YORK CITY July 3, 2014) Pediatric patients and their families recently joined physicians from The Icahn School of Medicine at Mount Sinai and representatives from the Genetic Disease Foundation (GDF) to introduce revamped quarters for the Food for Life program, which serves patients in Mount Sinais Program for Inherited Metabolic Diseases one of the largest centers of its kind. Food for Life was created to improve access to the specialized and often costly foods patients need to manage their health. Established with a grant from the GDF, the program features an on-site pantry stocked with food products made available at no cost to qualifying patients, along with advice and recipes from staff nutritionists.

Were extremely pleased to implement the Food for Life program with the GDFs support to help our patients, many of whom are children, overcome barriers to optimal health and well-being, said Melissa Wasserstein, MD, Associate Professor of Genetics and Genomics and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai and Director of the Program for Inherited Metabolic Diseases. Enormous strides in research and biochemical genetics mean that once-fatal metabolic disorders, usually diagnosed at birth, can now be treated with life-long medical and nutritional management.

Inherited metabolic diseases are caused by genetic errors that result in enzyme deficiencies, which make it impossible for the body to properly process certain types of foods. Toxins build up in organs to cause debilitating and life-threatening effects. Treatments include medications and a medically-prescribed diet.

Because their diets are severely restricted, patients need to consume specially-manufactured formulas and other foodstuffs, Dr. Wasserstein explains. If they eat off-limit foods, they can have serious health repercussions, like neurological damage or even coma, depending on the disease.

GDF is honored to make the innovative Food for Life program possible, said Lorie Broser, GDF Board member. We hope this addition to the excellent care provided at Mount Sinais Department of Genetics & Genomic Sciences will make a positive difference for the patients and families.

The celebration centered around completion of a new interior wall design at the Food for Life reception area. To enhance the program experience for patients and families, GDF enlisted visionary designer Edin Rudic, who donated his time to create an inspiring atmosphere featuring an unusual blend of artistry, color and technology. The area now includes specially-coated walls on which kids can draw, and an HD screen to display photos from patients, some of whom were on hand for the event.

For more information or to make a donation, visit the Food for Life program online. And for digital video b-roll and interviews with program staff and patient families, visit http://www.youtube.com/watch?v=MeZKmvQUKME&feature=youtu.be.

About the Program for Inherited Metabolic Diseases The Program for Inherited Metabolic Diseases (PIMD) at the Mount Sinai Health System specializes in providing advanced clinical and diagnostic services for the treatment of more than 600 children and adults affected by inborn errors of metabolism. Complete diagnostic evaluations, comprehensive testing, interpretation of test results, and long-term medical and nutritional management are provided.

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Mount Sinai & Genetic Disease Foundation Celebrate "Food For Life" Program to Help Kids Manage Inherited Metabolic ...

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Let #39;s Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 12
Come join me on my latest journey into the complex world of sims 3 genetics, as I try to get perfect foals and perfect children. Will I succeed in getting perfect genetics in both? Can I keep...

By: GamerGirlsNetwork

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Let's Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 12 - Video

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CONVERGE LIVE: Innovations in Population Health
Speaker: David Nash, M.D., Dean, Jefferson School of Population Health (@JeffersonJSPH) Join a special session broadcast live on MedCityNews.com and held in the exhibitor area of CONVERGE...

By: MedCity News

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CONVERGE LIVE: Innovations in Population Health - Video

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Balancing Work Benefits after Spinal Cord Injury
Many people with spinal cord injuries want to work but worry about how their Social Security disability benefits will be affected. In this video, Emma Hensel...

By: UWSpinalCordInjury

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Balancing Work & Benefits after Spinal Cord Injury - Video

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Shyamanga Borooah #39;s Three Minute Thesis - Developing a Clear Vision of the Future
Shyamanga Borooah from the MRC Centre for Regenerative Medicine in the College of Medicine and Veterinary Medicine presented his Three Minute Thesis entitled...

By: The University of Edinburgh

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Shyamanga Borooah's Three Minute Thesis - Developing a Clear Vision of the Future - Video

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By Steven Reinberg HealthDay Reporter

TUESDAY, July 1, 2014 (HealthDay News) -- A new bone marrow transplant technique for adults with sickle cell disease may "cure" many patients. And it avoids the toxic effects associated with long-term use of anti-rejection drugs, a new study suggests.

This experimental technique mixes stem cells from a sibling with the patient's own cells. Of 30 patients treated this way, many stopped using anti-rejection drugs within a year, and avoided serious side effects of transplants -- rejection and graft-versus-host disease, in which donor cells attack the recipient cells, the researchers said.

"We can successfully reverse sickle cell disease with a partial bone marrow transplant in very sick adult patients without the need for long-term medications," said researcher Dr. John Tisdale, a senior investigator at the U.S. National Heart, Lung, and Blood Institute.

In the United States, more than 90,000 people have sickle cell disease, a painful genetic disorder found mainly among blacks. Worldwide, millions of people have the disease.

Many adults with sickle cell disease have organ damage. This makes them ineligible for traditional transplants, which destroy all their bone marrow cells and use unmatched donor cells, he said. "Doing it this way would allow them access to a potential cure," Tisdale said.

"Adult patients, in whom symptoms are very severe, should consider whether a transplant could be right for them," he said. "A simple blood test for their siblings could tell them whether this approach is an option."

One expert was enthusiastic about the report, published July 2 in the Journal of the American Medical Association.

"The outcomes look every bit as good, if not better, than anything reported so far," said Dr. John DiPersio, chief of the division of oncology at Washington University School of Medicine in St. Louis.

"The issue is whether this can be extended to unrelated donors and to mismatched donors," said DiPersio, also the author of an accompanying journal editorial.

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Less Toxic Transplant Treatment Offers Hope for Sickle Cell Patients

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A new study shows that adipose-derived human stem cells, which can become vital tissues such as bone, may be highly resistant to the common chemotherapy drug methotrexate (MTX). The preliminary finding from lab testing may prove significant because MTX causes bone tissue damage in many patients.

MTX is used to treat cancers including acute lymphoblastic leukemia, the most common form of childhood cancer. A major side effect of the therapy, however, is a loss of bone mineral density. Other bone building stem cells, such as bone marrow derived stem cells, have not withstood MTX doses well.

"Kids undergo chemotherapy at such an important time when they should be growing, but instead they are introduced to this very harsh environment where bone cells are damaged with these drugs," said Olivia Beane, a Brown University graduate student in the Center for Biomedical Engineering and lead author of the study. "That leads to major long-term side effects including osteoporosis and bone defects. If we found a stem cell that was resistant to the chemotherapeutic agent and could promote bone growth by becoming bone itself, then maybe they wouldn't have these issues."

Stem cell survivors

Originally Beane was doing much more basic research. She was looking for chemicals that could help purify adipose-derived stem cells (ASCs) from mixed cell cultures to encourage their proliferation. Among other things, she she tried chemotherapy drugs, figuring that maybe the ASCs would withstand a drug that other cells could not. The idea that this could help cancer patients did not come until later.

In the study published online in the journal Experimental Cell Research, Beane exposed pure human ASC cultures, "stromal vascular fraction" (SVF) tissue samples (which include several cell types including ASCs), and cultures of human fibroblast cells, to medically relevant concentrations of chemotherapy drugs for 24 hours. Then she measured how those cell populations fared over the next 10 days. She also measured the ability of MTX-exposed ASCs, both alone and in SVF, to proliferate and turn into other tissues.

Beane worked with co-authors fellow center member Eric Darling, the Manning Assistant Professor in the Department of Molecular Pharmacology, Physiology and Biotechnology, and research assistant Vera Fonseca.

They observed that three chemotherapy drugs -- cytarabine, etoposide, and vincristine -- decimated all three groups of cells, but in contrast to the fibroblast controls, the ASCs withstood a variety of doses of MTX exceptionally well (they resisted vincristine somewhat, too). MTX had little or no effect on ASC viability, cell division, senescence, or their ability to become bone, fat, or cartilage tissue when induced to do so.

The SVF tissue samples also withstood MTX doses well. That turns out to be significant, Darling said, because that's the kind of tissue that would actually be clinically useful if an ASC-based therapy were ever developed for cancer patients. Hypothetically, fresh SVF could be harvested from the fat of a donor, as it was for the study, and injected into bone tissue, delivering ASCs to the site.

To understand why the ASCs resist MTX, the researchers conducted further tests. MTX shuts down DNA biosynthesis by binding the protein dihydrofolate reductase so that it is unavailable to assist in that essential task. The testing showed that ASCs ramped up dihydrofolate reductase levels upon exposure to the drug, meaning they produced enough to overcome a clinically relevant dose of MTX.

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Stem cell type resists chemotherapy drug

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July 2, 2014

News Review From Harvard Medical School -- Transplant May Help Adults with Sickle Cell

A partial transplant of bone-marrow stem cells may reverse sickle cell disease in adults, a new study finds. People with sickle cell disease have abnormally shaped red blood cells. They get stuck in blood vessels. This causes organ damage, pain and other medical problems. The new study included 30 adults with severe sickle cell disease. Each of them had a brother or sister who was a suitable match for a bone-marrow stem cell transplant. The sibling donor's cells were mixed with some of the patient's own cells. During 3.4 years of follow-up, the partial transplant reversed sickle cell disease in 26 out of 30 people, researchers said. In these patients, the bone marrow began making normal red blood cells. Fifteen people also were able to stop taking drugs to prevent rejection of the transplant. Overall, people were much less likely than before to need hospital treatment for the disease. Use of narcotic drugs for pain also was greatly reduced. The Journal of the American Medical Association published the study. HealthDay News wrote about it July 1.

By Howard LeWine, M.D.Harvard Medical School

What Is the Doctor's Reaction?

In the United States, more than 90,000 people are affected by sickle cell disease. Most of them are African-American. Worldwide, the number is much higher. About 300,000 babies are born with this genetic disease every year.

In sickle cell disease, the red blood cells made in the bone marrow are abnormal. Instead of having a normal round shape, the cells are curved and stiff. This causes the red blood cells to get stuck inside blood vessels before they reach the tissues. The result:

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News Review From Harvard Medical School -- Transplant May Help Adults with Sickle Cell

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This image provided by the National Institutes of Health shows red blood cells in a patient with sickle cell disease at the National Institutes of Health Clinical Center in Bethesda, Md.AP Photo/National Institutes of Health

This image provided by the National Institutes of Health shows red blood cells in a different sickle cell patient, after a bone marrow transplant at the National Institutes of Health Clinical Center in Bethesda, Md.AP Photo/National Institutes of Health

Bone marrow transplants can reverse severe sickle cell disease in adults, a small study by government scientists found, echoing results seen with a similar technique used in children.

The researchers and others say the findings show age need not be a barrier and that the technique may change practice for some adult patients when standard treatment fails.

The transplant worked in 26 of 30 adults, and 15 of them were even able to stop taking drugs that prevent rejection one year later.

"We're very pleased," said Dr. John Tisdale, the study's senior author and a senior investigator at the National Institutes of Health. "This is what we hoped for."

The treatment is a modified version of bone marrow transplants that have worked in kids. Donors are a brother or sister whose stem cell-rich bone marrow is a good match for the patient.

Tisdale said doctors have avoided trying standard transplants in adults with severe sickle cell disease because the treatment is so toxic. Children can often tolerate it because the disease typically hasn't taken as big a toll on their bodies, he said.

The disease is debilitating and often life-shortening; patients die on average in their 40s, Tisdale said. That's one reason why the researchers decided to try the transplants in adults, with hopes that the technique could extend their lives.

The treatment involves using chemotherapy and radiation to destroy bone marrow before replacing it with healthy donor marrow cells. In children, bone marrow is completely wiped out. In the adult study, the researchers only partially destroyed the bone marrow, requiring less donor marrow. That marrow's healthy blood cells outlast sickle cells and eventually replace them.

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Bone marrow transplants can reverse adult sickle cell disease

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Last reviewed and revised on May 20, 2013

By Anthony L. Komaroff, M.D. Brigham and Women's Hospital

Both adult and umbilical cord stem cells already are used to treat disease.

Adult stem cells:

For many years, doctors have used adult stem cells successfully to treat human disease, through bone marrow transplantation (also known as hematopoietic stem cell transplantation). Most often, this treatment is used to treat cancers of the bloodlymphomas and leukemias. When all other treatments have failed, the only hope for a cure is to wipe out all of the patients blood cellsthe cancerous ones and the healthy onesand to give a patient an entirely new blood system. The only way to do this is to transplant blood stem cellscells that can reproduce themselves indefinitely and turn into all types of specialized blood cells.

Here's how it's done. First, the doctors need to collect blood stem cells from a patient's bone marrow, and let them multiply.

Second, the patient is given a dose of chemotherapy that kills all of the cancer cells a dose that, unfortunately, also kills the cells in the patient's bone marrow.

Third, the blood stem cellsthe cells designed to give the patient a whole new blood systemare given to the patient through an intravenous catheter. Hopefully, the blood stem cells then travel through the blood to the bone marrow, where they take up residence and start to make a new blood system.

Where do the blood stem cells come from? Most of the time, they come from the patient himself. They are sucked out of the patients bone marrow through a needle, or taken from the patients blood (some blood stem cells travel in the blood). So the blood stem cells are outside the patients body, growing in a laboratory dish, when the patient is given the chemotherapy that kills all the blood cells still inside the body.

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Special Harvard Commentary: How Stem Cells Help Treat Human Disease

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PUBLIC RELEASE DATE:

2-Jul-2014

Contact: Kristina Grifantini press@salk.edu Salk Institute

LA JOLLA-Researchers around the world have turned to stem cells, which have the potential to develop into any cell type in the body, for potential regenerative and disease therapeutics.

Now, for the first time, researchers at the Salk Institute, with collaborators from Oregon Health & Science University and the University of California, San Diego, have shown that stem cells created using two different methods are far from identical. The finding could lead to improved avenues for developing stem cell therapies as well as a better understanding of the basic biology of stem cells.

The researchers discovered that stem cells created by moving genetic material from a skin cell into an empty egg cell-rather than coaxing adult cells back to their embryonic state by artificially turning on a small number of genes-more closely resemble human embryonic stem cells, which are considered the gold standard in the field.

"These cells created using eggs' cytoplasm have fewer reprogramming issues, fewer alterations in gene expression levels and are closer to real embryonic stem cells," says co-senior author Joseph R. Ecker, professor and director of Salk's Genomic Analysis Laboratory and co-director of the Center of Excellence for Stem Cell Genomics. The results of the study were published today in Nature.

Human embryonic stem cells (hESCs) are directly pulled from unused embryos discarded from in-vitro fertilization, but ethical and logistical quandaries have restricted their access. In the United States, federal funds have limited the use of hESCs so researchers have turned to other methods to create stem cells. Most commonly, scientists create induced pluripotent stem (iPS) cells by starting with adult cells (often from the skin) and adding a mixture of genes that, when expressed, regress the cells to a pluripotent stem-cell state. Researchers can then coax the new stem cells to develop into cells that resemble those in the brain or in the heart, giving scientists a valuable model for studying human disease in the lab.

Over the past year, a team at OHSU built upon a technique called somatic cell nuclear transfer (the same that is used for cloning an organism, such as Dolly the sheep) to transplant the DNA-containing nucleus of a skin cell into an empty human egg, which then naturally matures into a group of stem cells.

Ecker, holder of the Salk International Council Chair in Genetics, teamed up with Shoukhrat Mitalipov, developer of the new technique and director of the Center for Embryonic Cell and Gene Therapy at OHSU, and UCSD assistant professor Louise Laurent to carry out the first direct comparison of the two approaches. The scientists created four lines of nuclear transfer stem cells all using eggs from a single donor, along with seven lines of iPS cells and two lines of the gold standard hESCs. All cell lines were shown to be able to develop into multiple cell types and had nearly identical DNA content contained within them.

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Some stem cell methods closer to 'gold standard' than others

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Newswise A team of researchers from the University of California, San Diego School of Medicine, Oregon Health & Science University (OHSU) and Salk Institute for Biological Studies has shown for the first time that stem cells created using different methods produce differing cells. The findings, published in the July 2, 2014 online issue of Nature, provide new insights into the basic biology of stem cells and could ultimately lead to improved stem cell therapies.

Capable of developing into any cell type, pluripotent stem cells offer great promise as the basis for emerging cell transplantation therapies that address a wide array of diseases and conditions, from diabetes and Alzheimers disease to cancer and spinal cord injuries. In theory, stem cells could be created and programmed to replace ailing or absent cells for every organ in the human body.

The gold standard is human embryonic stem cells (ES cells) cultured from discarded embryos generated by in vitro fertilization, but their use has long been limited by ethical and logistical considerations. Scientists have instead turned to two other methods to create stem cells: Somatic cell nuclear transfer (SCNT), in which genetic material from an adult cell is transferred into an empty egg cell, and induced pluripotent stem cells (iPS cells), in which adult cells are reverted back to a stem cell state by artificially turning on targeted genes.

Until now, no one had directly and closely compared the stem cells acquired using these two methods. The scientists found they produced measurably different results. The nuclear transfer ES cells are much more similar to real ES cells than the iPS cells, said co-senior author Louise Laurent, PhD, assistant professor in the Department of Reproductive Medicine at UC San Diego. They are more completely reprogrammed and have fewer alterations in gene expression and DNA methylation levels that are attributable to the reprogramming process itself.

The development and use of iPS cells has grown exponentially in recent years, in no small part due to the fact that they can be generated from adult cells (often from the skin) by temporarily turning on a combination of four genes to induce the adult cells to return to a pluripotent state.

Laurent noted that iPS cell lines have been created from patients to model many different diseases and the ability to make personalized iPS cells from a patient that could be transplanted back into that patient has generated excitement because it would eliminate the need for immunosuppression.

The nuclear transfer method has been pioneered more recently by a team led by Shoukhrat Mitalipov, PhD, professor and director of the Center for Embryonic Cell and Gene Therapy at OSHU. The technique is similar to the process used in cloning, but the pluripotent cells are collected from early embryos before they develop into mature organisms.

For their comparisons, the researchers at UC San Diego, OSHU and Salk created four nuclear transfer ES cell lines and seven iPS cell lines using the same skin cells as the source of donor genetic material, then compared them to two standard human ES lines. All 13 cell lines were shown to be pluripotent using a battery of standard tests.

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New Reprogramming Method Makes Better Stem Cells

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