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Newswise While the ability of human embryonic stem cells (hESCs) to become any type of mature cell, from neuron to heart to skin and bone, is indisputably crucial to human development, no less important is the mechanism needed to maintain hESCs in their pluripotent state until such change is required.

In a paper published in this weeks Online Early Edition of PNAS, researchers from the University of California, San Diego School of Medicine identify a key gene receptor and signaling pathway essential to doing just that maintaining hESCs in an undifferentiated state.

The finding sheds new light upon the fundamental biology of hESCs with their huge potential as a diverse therapeutic tool but also suggests a new target for attacking cancer stem cells, which likely rely upon the same receptor and pathway to help spur their rampant, unwanted growth.

The research, led by principal investigator Karl Willert, PhD, assistant professor in the Department of Cellular and Molecular Medicine, focuses upon the role of the highly conserved WNT signaling pathway, a large family of genes long recognized as a critical regulator of stem cell self-renewal, and a particular encoded receptor known as frizzled family receptor 7 or FZD7.

WNT signaling through FZD7 is necessary to maintain hESCs in an undifferentiated state, said Willert. If we block FZD7 function, thus interfering with the WNT pathway, hESCs exit their undifferentiated and pluripotent state.

The researchers proved this by using an antibody-like protein that binds to FZD7, hindering its function. Once FZD7 function is blocked with this FZD7-specific compound, hESCs are no longer able to receive the WNT signal essential to maintaining their undifferentiated state.

FZD7 is a so-called onco-fetal protein, expressed only during embryonic development and by certain human tumors. Other studies have suggested that FZD7 may be a marker for cancer stem cells and play an important role in promoting tumor growth. If so, said Willert, disrupting FZD7 function in cancer cells is likely to interfere with their development and growth just as it does in hESCs.

Willert and colleagues, including co-author Dennis Carson, MD, of the Sanford Consortium for Regenerative Medicine and professor emeritus at UC San Diego, plan to further test their FZD7-blocking compound as a potential cancer treatment.

Excerpt from:
Keeping Stem Cells Pluripotent

Recommendation and review posted by Bethany Smith

Jan. 13, 2014 Geneticists from Ohio, California and Japan joined forces in a quest to correct a faulty chromosome through cellular reprogramming. Their study, published online today in Nature, used stem cells to correct a defective "ring chromosome" with a normal chromosome. Such therapy has the promise to correct chromosome abnormalities that give rise to birth defects, mental disabilities and growth limitations.

"In the future, it may be possible to use this approach to take cells from a patient that has a defective chromosome with multiple missing or duplicated genes and rescue those cells by removing the defective chromosome and replacing it with a normal chromosome," said senior author Anthony Wynshaw-Boris, MD, PhD, James H. Jewell MD '34 Professor of Genetics and chair of Case Western Reserve School of Medicine Department of Genetics and Genome Sciences and University Hospitals Case Medical Center.

Wynshaw-Boris led this research while a professor in pediatrics, the Institute for Human Genetics and the Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research at UC, San Francisco (UCSF) before joining the faculty at Case Western Reserve in June 2013.

Individuals with ring chromosomes may display a variety of birth defects, but nearly all persons with ring chromosomes at least display short stature due to problems with cell division. A normal chromosome is linear, with its ends protected, but with ring chromosomes, the two ends of the chromosome fuse together, forming a circle. This fusion can be associated with large terminal deletions, a process where portions of the chromosome or DNA sequences are missing. These deletions can result in disabling genetic disorders if the genes in the deletion are necessary for normal cellular functions.

The prospect for effective counter measures has evaded scientists -- until now. The international research team discovered the potential for substituting the malfunctioning ring chromosome with an appropriately functioning one during reprogramming of patient cells into induced pluripotent stem cells (iPSCs). iPSC reprogramming is a technique that was developed by Shinya Yamanaka, MD, PhD, a co-corresponding author on the Nature paper. Yamanaka is a senior investigator at the UCSF-affiliated Gladstone Institutes, a professor of anatomy at UCSF, and the director of the Center for iPS Cell Research and Application (CiRA) at the Institute for Integrated Cell-Material Sciences (iCeMS) in Kyoto University. He won the Nobel Prize in Medicine in 2012 for developing the reprogramming technique.

Marina Bershteyn, PhD, a postdoctoral fellow in the Wynshaw-Boris lab at UCSF, along with Yohei Hayashi, PhD, a postdoctoral fellow in the Yamanaka lab at the Gladstone Institutes, reprogrammed skin cells from three patients with abnormal brain development due to a rare disorder called Miller Dieker Syndrome, which results from large terminal deletions in one arm of chromosome 17. One patient had a ring chromosome 17 with the deletion and the other two patients had large terminal deletions in one of their chromosome 17, but not a ring. Additionally, each of these patients had one normal chromosome 17.

The researchers observed that, after reprogramming, the ring chromosome 17 that had the deletion vanished entirely and was replaced by a duplicated copy of the normal chromosome 17. However, the terminal deletions in the other two patients remained after reprogramming. To make sure this phenomenon was not unique to ring chromosome 17, they reprogrammed cells from two different patients that each had ring chromosomes 13. These reprogrammed cells also lost the ring chromosome, and contained a duplicated copy of the normal chromosome 13.

"It appears that ring chromosomes are lost during rapid and continuous cell divisions during reprogramming," said Yamanaka. "The duplication of the normal chromosome then corrects for that lost chromosome."

"Ring loss and duplication of whole chromosomes occur with a certain frequency in stem cells," explained Bershteyn. "When chromosome duplication compensates for the loss of the corresponding ring chromosome with a deletion, this provides a possible avenue to correct large-scale problems in a chromosome that have no chance of being corrected by any other means."

"It is likely that our findings apply to other ring chromosomes, since the loss of the ring chromosome occurred in cells reprogrammed from three different patients," said Hayashi.

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Study discovers chromosome therapy to correct severe chromosome defect

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Alexion Pharmaceuticals, the highly successful biotech company headquartered in Cheshire, will pay a Cambridge-based biotech firm $100 million so it can develop and commercialize drugs that come from 10 of the smaller company's gene therapy research programs.

Alexion, which had $910 million in cash on hand at the end of the third quarter, is receiving tens of millions in state subsidies through the First Five Program. The package includes a $6 million grant from the state, a subsidized $20 million loan that will be made into a gift if Alexion has 650 workers in Connecticut by 2017, and tax credits that could be worth as much as $25 million.

In the first year after the deal, the company added more than 50 workers in the state, and said it had more than 400 employees in August. A spokesman did not return calls for comment Monday.

In addition to the $100 million payment to Moderna Therapeutics announced Monday, Alexion bought $25 million in preferred stock in the company. It promised to make more payments if the drug development hits milestones of success and sales and will pay royalties on future sales.

Moderna specializes in personalized medicine. Alexion specializes in drugs for ultra-rare diseases with no effective treatments.

Alexion has a market cap of $25.6 billion.

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Alexion Invests $125 Million in Cambridge Biotech Company

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With the highest-profile seller of $99 genetic tests under fire, will public trust in personalised medicine suffer, an ethicist wonders

IT'S 2008. The New Yorker is chronicling a celebrity "spit party", at which notables nicknamed the "Spitterati" eject saliva into tubes to find out their risk of developing illnesses such as diabetes, heart disease and cancer. The firm involved is 23andMe, a direct-to-consumer genetic testing company whose service was named Invention of the Year by Time magazine.

Fast-forward five years. 23andMe receives a demand from the US Food and Drug Administration (FDA) to stop selling its health-related tests pending scientific analysis. In a separate event, a Californian woman, Lisa Casey, files a $5 million class action lawsuit alleging false and misleading advertising. 23andMe suspends sales of its test, putting paid to its target of reaching 1 million customers by the end of 2013. Where did it all go wrong?

In November, after what the FDA describes as years of "diligently working to help [23andMe] comply with regulatory requirements", the agency sent a scathing letter to the firm's CEO Anne Wojcicki. It stated that 23andMe's Personal Genome Service was marketed without approval and broke federal law, since six years after it began selling the kits, the firm still hasn't proved that they work.

Doubts go back a long way. In the year of the spit party, the American Society for Clinical Oncology commissioned a report that concluded the partial type of analysis involved wasn't clinically proven to be effective in cancer care. In 2010 the US Government Accountability Office concluded that "direct-to-consumer genetic tests [involve] misleading test results... further complicated by deceptive marketing".

What 23andMe offered was a $99 test for 250 genetically linked conditions, based on a partial reading of single-nucleotide polymorphisms (SNPs). These are points where the genomes of different individuals vary by a single DNA base pair. There are some 3 billion base pairs in the human genome this test targets only a fraction of them. Different companies sample different SNPs and so return different results for the same person.

To illustrate this point, in his book Experimental Man, science writer David Ewing Duncan recalled how he received three conflicting assessments of heart attack risk from three different companies. The director of one, deCODEme no longer offering such tests telephoned him from Iceland to urge him to start taking cholesterol-lowering statins. Yet the other two tests one from 23andMe, one from Navigenics, which no longer offers consumer tests had rated him at medium or low risk. Given that some statins carry side effects such as muscle weakness, Duncan might have been ill-advised to follow deCODE's urgent advice.

This is the root of the FDA's concerns. In its letter to 23andMe, it raised the risk that customers could get false information that leads to drastic and misguided medical steps. Wojcicki now says: "We want to work with [the FDA], and we will work with them." But is it too little, too late?

And what of the class action lawsuit, brought by Casey after buying a test? It focuses on the test's accuracy but goes further, targeting what Casey's attorney calls "a very thinly disguised way of getting people to pay [23andMe] to build a DNA database".

By asking customers to fill in surveys about health and lifestyle, 23andMe has been creating a valuable "biobank" for patenting purposes and industry collaboration. The firm has always sought customer consent for use of identifiable data and hasn't disguised its aim. "The long game here is not to make money selling kits, although the kits are essential to get the base level data," says 23andMe board member Patrick Chung. "Once you have the data, [23andMe]... becomes the Google of personalised healthcare."

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Testing times for the consumer genetics revolution

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Alnylam Pharmaceuticals Inc. ( ALNY ) provided an update on its pipeline and its goals for the coming years. The company has progressed well with its 'Alnylam 5x15' program so far, and expects six to seven genetic medicine programs in the clinic by 2015 instead of five genetic medicine programs.

One of the important candidates under Alnylam's 'Alnylam 5x15' program is patisiran (ALN-TTR02), which is being developed for the treatment of transthyretin-mediated amyloidosis (ATTR).

The candidate is currently in the phase III APOLLO study in ATTR patients suffering from familial amyloidotic polyneuropathy (FAP). Patisiran is also in a phase II open-label extension study for the treatment of patients suffering from FAP. Alnylam intends to report data from the open-label extension study once a year with initial data expected later this year.

ALN-TTRsc, another important candidate under Alnylam's 'Alnylam 5x15' program is currently in a phase II study in ATTR patients suffering from familial amyloidotic cardiomyopathy (FAC) or senile systemic amyloidosis (SSA). Results from the phase II study are expected late in the year.

Patients successfully completing the phase II study will be eligible for an open-label extension study which is expected to be initiated in mid-2014. Moreover, Alnylam has plans to initiate a phase III study on ALN-TTRsc in patients suffering from TTR cardiac amyloidosis by year end.

Apart from these candidates, Alnylam also has plans to initiate a phase I study on ALN-AT3 (hemophilia and other rare bleeding disorders) soon with initial results expected by year end. Additionally, the company will file three Investigational New Drug (IND) applications by 2015 for ALN-CC5 (complement-mediated diseases), ALN-AS1 (hepatic porphyrias) and ALN-PCSsc for (hypercholesterolemia). We expect investor focus remain on the Alnylam's pipeline going forward.

Alnylam also said that it will acquire Merck & Co. Inc. 's ( MRK ) wholly owned subsidiary Sirna Therapeutics, Inc. for $175 million in cash and equity. Merck is also expected to receive up to $105 million as developmental and sales milestone payments per product along with single-digit royalties related to certain pre-clinical candidates discovered by Merck. Alnylam will also pay $10 million as milestone payments and single-digit royalties for products covered by Sirna's patent estate.

Moreover, Alnylam has expanded its strategic agreement with Sanofi ( SNY ) for the development and commercialization of candidates for the treatment of rare genetic diseases. As per the new agreement, Alnylam will retain most of the product rights in North America and Western Europe whereas Sanofi will become a major Alnylam shareholder with a stake of approximately 12% for an investment of $700 million.

Alnylam's collaborations with big companies like Merck and Sanofi are encouraging. The deals will not help Alnylam to generate revenues from royalties but it will also take its RNAi technology outside its core focus area.

Alnylam presently carries a Zacks Rank #4 (Sell). Some better-ranked stocks include Actelion Ltd. ( ALIOF ) with a Zacks Rank #1 (Strong Buy).

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Pipeline Update at Alnylam - Analyst Blog

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

13-Jan-2014

Contact: Haley Bridger hbridger@broadinstitute.org 617-714-7968 Broad Institute of MIT and Harvard

The most comprehensive genetic study to date of the blood cancer multiple myeloma has revealed that the genetic landscape of the disease may be more complicated than previously thought. Through results published in Cancer Cell today, a team of Broad researchers has shown that an individual patient's tumor can harbor populations of cancer cells equipped with different mutations. These findings could have therapeutic implications for patients in the future.

"What this new work shows us is that when we treat an individual patient with multiple myeloma, it's possible that we're not just looking at one disease, but at many in the same person, there could be cancer cells with different genetic make-ups," said co-senior author Todd Golub, the Broad Institute's Chief Scientific Officer and Charles A. Dana Investigator in Human Cancer Genetics at the Dana-Farber Cancer Institute. Golub is also a professor at Harvard Medical School and an investigator at Howard Hughes Medical Institute. "These findings indicate a need to identify the extent of genetic diversity within a tumor as we move toward precision cancer medicine and genome-based diagnostics."

In a detailed study of samples from more than 200 multiple myeloma patients, Golub and colleagues identified frequent mutations in several key genes known to play an important role in cancer including KRAS, NRAS, and BRAF. But they found that many of these telltale mutations were not present in all cancer cells within a tumor instead, they were often found in only a smaller fraction of cells, known as a subclonal population.

Many promising cancer therapies used in treatment today target a specific genetic mutation. This new work suggests that such targeted therapies may have limitations in patients whose tumors are made up of these subclonal populations.

The research team performed follow-up experiments in the lab to explore some of the therapeutic implications, looking specifically at BRAF, a cancer gene for which several inhibitors, or drugs, exist. Previous studies indicated that around four percent of multiple myeloma patients may have mutations in this gene, and a recent report on a single multiple myeloma patient treated with drugs targeting BRAF showed promising results. BRAF inhibitors have also been used to treat patients with melanoma and other forms of cancer. In the lab, however, the research team found evidence that treating a tumor harboring subclonal BRAF mutations with one of these targeted drugs may at best kill a fraction of the cells, and at worst, stimulate another cancer cell subpopulation to grow.

"There's clearly potential for these drugs in some patients with multiple myeloma, but we show that there are also potential problems for others," said co-first author Jens Lohr an associated scientist at the Broad and a medical oncologist at Dana-Farber. "If a patient has a BRAF mutation in less than 100 percent of his cells, or if he has mutations in KRAS or NRAS at the same time may influence the response to an inhibitor."

Resistance or the ability for tumors to shrink and then grow back has become a major hurdle in treating patients with targeted therapies such as BRAF inhibitors. The new research suggests that subclonal populations could be one of the potential reasons many patients suffer relapse after treatment.

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Multiple myeloma study uncovers genetic diversity within tumors

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Genetics and Mesothelioma Dr Michele Carbone | Mesothelioma Resources Insurance
mesothelioma lawsuits, mesothelioma, asbestos lawyers, asbestos lawyer, mesothelioma prognosis, mesothelioma lawsuit funding, asbestos lawsuit, asbestos, asbMORE INFO IN Mesothelioma Diagnosis...

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Genetics and Mesothelioma Dr Michele Carbone | Mesothelioma Resources Insurance - Video

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Intro. to Genetics and Evolution: First Hangout
Join the TAs Keri and John as they discuss with students the Week 1 material: Evolution and Mendelian Genetics. Live Broadcast starts at 5:00 pm EST, Wed Ja...

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Intro. to Genetics and Evolution: First Hangout - Video

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PUBLIC RELEASE DATE:

13-Jan-2014

Contact: Mary Martialay martim12@rpi.edu 518-276-2146 Rensselaer Polytechnic Institute

Troy, N.Y. A team including researchers from Rensselaer Polytechnic Institute have discovered that a specific gene may play a major role in the development of a life-threatening birth defect called congenital diaphragmatic hernia, or CDH, which affects approximately one out of every 3,000 live births.

The hallmark of CDH is a rupture of the diaphragm that allows organs found in the lower abdomen, such as the liver, spleen, and intestines, to push their way into the chest cavity. The invading organs crowd the limited space and can lead to abnormal lung and heart development or poor heart and lung function, which, depending on the severity of the condition, can cause disability or death.

In a paper published recently in the Journal of Clinical Investigation, lead authors at the University of Georgia, along with colleagues from the Rensselaer and the University of California at San Diego, demonstrated for the first time that the gene NDST1 plays a significant role in the proper development of the diaphragm, and that abnormal expression of the gene could lead to CDH.

"We now have a really good picture of this abnormality in mice, and we suspect it is very similar in humans," said Fuming Zhang, a research professor in the laboratory of Robert J. Linhardt, the Ann and John H. Broadbent Jr '59 Senior Constellation Professor of Biocatalysis and Metabolic Engineering, and a member of the Center for Biotechnology and Interdisciplinary Studies at Rensselaer. "What this gives us is a total view, from the genetic level, to the molecular level, to the cellular or tissue level, to something that a physician would see a hernia in a newborn."

The discovery began with the observation that mice bred without the NDST1 gene, which produces the eponymous NDST1 enzyme, are more likely to develop CDH than ordinary mice. The enzyme NDST1 is one of four isoforms a group of molecules that are chemically similar, but show subtle functional differences. In mice lacking the NDST1 gene, and therefore the NDST1 enzyme, nature substitutes with an NDST1 isoform (NDST2, NDST3, and NDST4), but the results like substitutions in cooking are noticeable.

In the absence of NDST1, blood vessels supplying the developing diaphragm muscles formed inconsistently, leading to weak points in the muscle tissues that make them prone to hernia. Researchers knew that the NDST1 enzyme is involved in the synthesis of heparan sulfate, so the group turned to the Linhardt's research team at Rensselaer experts in heparan sulfate and glycosaminoglycan analysis to pinpoint the biochemical basis for the abnormality.

"There are two molecules in the interaction that leads to proper blood vessel formation in the diaphragm NDST1 biosynthesized heparan sulfate and the protein SLIT3," said Zhang. "In order for those interactions to be successful, and for blood vessels to form properly, everything must be accomplished within a specific time frame and having a specific structure. We were able to investigate the interactions between the two."

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Congenital diaphragmatic hernia traced from genetic roots to physical defect

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one year after stem cell therapy by Dr Harry Adelson for an arthritic ankle
Jim discusses his outcome one year after stem cell therapy by Dr Harry Adelson for an arthritic ankle http://www.docereclinics.com.

By: Harry Adelson

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one year after stem cell therapy by Dr Harry Adelson for an arthritic ankle - Video

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January 12, 2014

Image Caption: Scanning electron microscopy of stem cells (yellow / green) in a scaffold structure (blue) serving as a basis for the artificial bone marrow. Credit: C. Lee-Thedieck/KIT

Rebekah Eliason for redOrbit.com Your Universe Online

An exciting breakthrough is offering hope for the treatment of blood diseases such as leukemia using artificial bone marrow.

Specialized cells, known as hematopoietic stem cells, located within bone marrow, continuously replace and supply new blood cells such as red blood cells and white blood cells. Traditionally a blood disease like leukemia is treated with bone marrow transplants that supply the patient with new hematopoietic stem cells. Researchers have now discovered a way to artificially reproduce hematopoietic stem cells.

Since not every leukemia patient can find a suitable transplant, there is a need for other forms of treatment. The lack of appropriate transplants could be solved by artificial reproduction of hematopoietic stem cells. Previously, reproduction of the cells has been impossible due to their inability to survive anywhere but in their natural environment. Hematopoietic stem cells are found in a special niche of the bone marrow. If the cells reside out of the bone marrow, the specialized properties are modified. Consequently, to effectively reproduce the cells, the stem cell niche environment must also be created.

In the microscopic environment of the stem cell niche, there are several specific properties of importance. Areas in the bone that house the stem cells are extremely porous like a sponge. Making things even more complex, the spongy tissue is also home to other cell types which exchange signal substances with the stem cells. Also, the space among the cells creates an environment ensuring stability along with a place for the cells to anchor. Furthermore, the stem cell niche supplies the cells with nutrients and oxygen.

Dr. Cornelia Lee-Thedieck is head of the Young Investigators Group Stem Cell-Material Interactions, which consists of scientitsts from the KIT Institute of Functional Interfaces (IFG), the Max Planck Institute for Intelligent Systems, Stuttgart and Tbingen University. The team was successful at artificially reproducing major properties of bone marrow at the laboratory.

Using synthetic polymers, the researchers were able to create a porous structure that simulated the spongy environment of the blood-forming bone marrow. Also, they were able to add protein building blocks which are similar to those found naturally in the environment of the bone marrow that enable cells to anchor. Finally, they added the other types of cells needed for exchanging signaling substances.

After the artificial bone marrow was created, the scientists placed hematopoietic stem cells that had been isolated from cord blood into it. For several days the cells were bred. Various analytical methods were then used to determine that cells were able to reproduce in the artificial bone marrow. When compared with standard cell cultivation methods, a larger number of stem cells in the artificial bone marrow retained their specific properties.

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New Treatment For Blood Diseases Using Artificial Bone Marrow

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POSTED: 01:30 a.m. HST, Jan 12, 2014 LAST UPDATED: 01:55 a.m. HST, Jan 12, 2014

NEW YORK TIMES

KONA From the moment the bill to ban genetically engineered crops on Hawaii island was introduced in May, it garnered more vocal support than any the County Council here had ever considered, even the perennially popular bids to decriminalize marijuana.

Public hearings were dominated by recitations of the ills often attributed to genetically modified organisms, or GMOs: cancer in rats, a rise in childhood allergies, out-of-control superweeds, genetic contamination, overuse of pesticides, the disappearance of butterflies and bees.

Like some others on the nine-member council, Greggor Ilagan was not even sure at the outset of the debate exactly what genetically modified organisms were: living things whose DNA has been altered, often with the addition of a gene from a distant species, to produce a desired trait. But he could see why almost all of his colleagues had been persuaded of the virtue of turning the island into what the bill's proponents called a "GMO-free oasis."

"You just type 'GMO' and everything you see is negative," he told his staff. Opposing the ban also seemed likely to ruin anyone's re-election prospects.

Yet doubts nagged at the councilman, who was serving his first two-year term. The island's papaya farmers said that an engineered variety had saved their fruit from a devastating disease. A study purporting that a diet of GMO corn caused tumors in rats, mentioned often by the ban's supporters, turned out to have been thoroughly debunked.

And University of Hawaii biologists urged the council to consider the global scientific consensus, which holds that existing genetically engineered crops are no riskier than others, and have provided some tangible benefits.

"Are we going to just ignore them?" Ilagan wondered.

Urged on by Margaret Wille, the ban's sponsor, who spoke passionately of the need to "act before it's too late," the council declined to form a task force to look into such questions before its November vote. But Ilagan, 27, sought answers on his own. In the process, he found himself, like so many public and business leaders worldwide, wrestling with a subject in which popular beliefs often do not reflect scientific evidence.

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Effort to demystify GMOs was tough

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Current ratings for: Rare genetic mutation confirmed as a cause of Tourette Syndrome

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Brain researchers say they have confirmed for the first time that a rare genetic mutation can cause some cases of Tourette syndrome, with the fault disrupting production of histamine in the brain.

The New Haven, CT, researchers at the Yale School of Medicine say the histamine effect "is a cause of the tics and other abnormalities of Tourette syndrome." Tics are repetitive movements and vocal sounds, and they are unwanted and involuntary - they cannot be controlled.

Publishing their research on mice in the journal Neuron, the authors raise the question of investigating treatment of Tourette syndrome by drugs that target histamine receptors in the brain.

Drugs with such a mode of action are already being explored by pharmaceutical companies for the treatment of separate brain disorders, schizophrenia and ADHD.

Information from the national gene database about histamine describes the chemical's role - it is a messenger molecule released by nerves, among other functions.

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Rare genetic mutation confirmed as a cause of Tourette Syndrome

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Advanced Genetics Mod Review- Part 2
How amazing! It #39;s wonderful what the scientists in the lab can whip up with now adays, allow you to extract DNA from and animal, and inject it into yourself?!? Utterly amazing!!! Note: This...

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Advanced Genetics Mod Review- Part 2 - Video

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The Slow and Steady Revival of Gene Therapy
The Slow and Steady Revival of Gene Therapy.

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ProteoMediX - Enabling Personalized Medicine
ProteoMediX is a spinoff company of ETH Zurich and specialized in the identification of novel biomarkers for the early detection of cancer and the personaliz...

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Welcome to this week's Biotech Stock Mailbag. Before I kick off, a few housekeeping items to note:

I launched a new blog on TheStreet this week. It's called Adam's Biotech Beat. I know, not the most original name but straightforward. I'll have more to say about the blog later, but please bookmark the page and check it often. You'll see me posting a lot of intraday news and analysis, plus it's a great way to keep track of all my tweets.

The J.P. Morgan Healthcare Conference starts Monday in San Francisco. I'm flying out there Sunday and will be providing live coverage from the presentations and breakout rooms.

Chelsea Therapeutics (CHTP) and its hypotension drug Northera will be the star of an FDA advisory panel on Tuesday. I have invited healthcare investor and TheStreet contributing writer Aafia Chaudhry to live-blog the Chelsea panel, so please tune into that.

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Biotech Stock Mailbag: NeoStem, MannKind, Inovio

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Jan. 10, 2014 Artificial bone marrow may be used to reproduce hematopoietic stem cells. A prototype has now been developed by scientists of KIT, the Max Planck Institute for Intelligent Systems, Stuttgart, and Tbingen University. The porous structure possesses essential properties of natural bone marrow and can be used for the reproduction of stem cells at the laboratory. This might facilitate the treatment of leukemia in a few years.

The researchers are now presenting their work in the journal Biomaterials.

Blood cells, such as erythrocytes or immune cells, are continuously replaced by new ones supplied by hematopoietic stem cells located in a specialized niche of the bone marrow. Hematopoietic stem cells can be used for the treatment of blood diseases, such as leukemia. The affected cells of the patient are replaced by healthy hematopoietic stem cells of an eligible donor.

However, not every leukemia patient can be treated in this way, as the number of appropriate transplants is not sufficient. This problem might be solved by the reproduction of hematopoietic stem cells. So far, this has been impossible, as these cells retain their stem cell properties in their natural environment only, i.e. in their niche of the bone marrow. Outside of this niche, the properties are modified. Stem cell reproduction therefore requires an environment similar to the stem cell niche in the bone marrow.

The stem cell niche is a complex microscopic environment having specific properties. The relevant areas in the bone are highly porous and similar to a sponge. This three-dimensional environment does not only accommodate bone cells and hematopoietic stem cells but also various other cell types with which signal substances are exchanged. Moreover, the space among the cells has a matrix that ensures a certain stability and provides the cells with points to anchor. In the stem cell niche, the cells are also supplied with nutrients and oxygen.

The Young Investigators Group "Stem Cell-Material Interactions" headed by Dr. Cornelia Lee-Thedieck consists of scientists of the KIT Institute of Functional Interfaces (IFG), the Max Planck Institute for Intelligent Systems, Stuttgart, and Tbingen University. It artificially reproduced major properties of natural bone marrow at the laboratory. With the help of synthetic polymers, the scientists created a porous structure simulating the sponge-like structure of the bone in the area of the blood-forming bone marrow. In addition, they added protein building blocks similar to those existing in the matrix of the bone marrow for the cells to anchor. The scientists also inserted other cell types from the stem cell niche into the structure in order to ensure substance exchange.

Then, the researchers introduced hematopoietic stem cells isolated from cord blood into this artificial bone marrow. Subsequent breeding of the cells took several days. Analyses with various methods revealed that the cells really reproduce in the newly developed artificial bone marrow. Compared to standard cell cultivation methods, more stem cells retain their specific properties in the artificial bone marrow.

The newly developed artificial bone marrow that possesses major properties of natural bone marrow can now be used by the scientists to study the interactions between materials and stem cells in detail at the laboratory. This will help to find out how the behavior of stem cells can be influenced and controlled by synthetic materials. This knowledge might contribute to producing an artificial stem cell niche for the specific reproduction of stem cells and the treatment of leukemia in ten to fifteen years from now.

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Researchers develop artificial bone marrow; May be used to reproduce hematopoietic stem cells

Recommendation and review posted by Bethany Smith

Blood stem cells can only thrive in the bone marrow, from which they turn into different kinds of blood cells that are needed in the body, including red and white blood cells, which transport oxygen and fight disease. For years, researchers around the world have been trying to find a way to replicate the bone marrow so that they are able to harvest blood stem cells in the laboratory because stem cells cease to be what they are once they are removed from the body.

Now researchers at Karlsruhe Institute of Technology, the Max Planck Institute for Intelligent Systems and the University of Tbingen say that they have designed porous material in which blood stem cells can multiply for as long as four days.

A bath sponge with cells inside

Natural bone marrow is a very complex structure, making it difficult to imitate. Its three-dimensional porous architecture resembles a bath sponge and contains bridging proteins that the stem cells can dock on.

Precisely-sized pores host many cell types that interact with each other and produce chemical messages, allowing the blood stem cells to multiply.

Researchers put a porous polymer into a nutrient solution to cultivate stem cells inside

"We assume that stem cells [do] not only notice the chemical composition of their surroundings. They can probably also feel if their environment is soft or hard, rough or smooth," Cornelia Lee-Thedieck, a researcher at the Karlsruhe Institute of Technology tells DW.

She and her colleagues put everything together that researchers already know about bone marrow and their preferred environment. They replicated the sponge-like structure of bone marrow using a simple polymer. They linked proteins to it and added other cell types.

Treating leukemia

The researchers would like to see the artificial bone marrow help cure leukemia one day. Since new, healthy blood stem cells are needed to treat leukemia, stem cells could be harvested in the lab and transplanted into patients. Currently, the stem cells are isolated from the blood or the bone marrow of a suitable donor.

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Scientists create artificial bone marrow that helps stem cells thrive

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A team of biochemists has engineered artificial bone marrow capable of hosting hematopoietic stem cells -- the potentially life-saving cells used in the treatment of leukemia -- for regeneration.

The work was carried out at the KIT Institute of Functional Interfaces (IFG), the Max Planck Institute for Intelligent Systems, Stuttgart and Tbingen University in Germany, where Cornelia Lee-Thedieck led a team in building a scaffold for stem cell regeneration.

Hematopoietic stem cells, which are derived from both blood and bone marrow, are known for their extraordinary regenerative properties -- they can differentiate into a whole series of specialised cells in the body and travel into the blood from the bone marrow. This makes it an excellent treatment for cancers of the blood, including leukemia and lymphoma where underdeveloped white blood cells multiply out of control. In these cases the patient's own supply of hematopoietic cells is destroyed and they are replenished via a bone marrow transplant from a matched donor. These are not in plentiful supply, so for years artificial bone marrow has been in development to help fill the need -- existing hematopoietic stem cells only replenish and thrive within the complex, porous structure of bone marrow and do not survive without it. If researchers could develop a suitable host, they could continually transplant cells onto that host to regenerate cells and meet demand.

"Multiplication of hematopoietic stem cells in vitro with current standard methods is limited and mostly insufficient for clinical applications of these cells," write the team in the journal Biomaterials. "They quickly lose their multipotency in culture because of the fast onset of differentiation. In contrast, HSCs efficiently self-renew in their natural microenvironment (their niche) in the bone marrow."

The team believes it has now created a potentially game-changing host that mimics that niche. They used synthetic polymers to build macroporous hydrogel scaffolds that mimic the spongy texture of bone marrow. Protein building blocks were then introduced, which would encourage introduced stem cells to stick to the scaffold. They had to introduce a number of other cells which importantly also thrive within bone marrow to exchange nutrients and oxygen.

To test the scaffold, stem cells from bone marrow and umbilical cord blood were introduced. It took a few days, but those from the cord blood began to multiply.

The authors concluded: "Co-culture in the pores of the three-dimensional hydrogel scaffold showed that the positive effect of MSCs on preservation of HSPC stemness was more pronounced in 3D than in standard 2D cell culture systems."

This is not the first time that artificial bone marrow has been attempted, however. Back in 2008 a team from the University of Michigan maintained that it had created a replica that could make red and white blood cells, and within which blood stem cells could replicate and produce B cells (important immune cells). In this instance, scaffolds were made from a transparent polymer using tiny spheres that were then dissolved to create pores the nutrients could pass through. It's unclear for how long the stem cells thrived, and Wired.co.uk has contacted the team to try and find out how the research has progressed and if the engineered bone marrow has continued to be effective.

If the research is successful going forward, it could mean the beginning of "blood farming", where artificial bone marrow is used to produce red and white blood cells and platelets to be banked for transfusions.

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Study: potentially life-saving blood stem cells regenerate in artificial bone marrow

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PATIENTS with potentially fatal superbug forms of tuberculosis (TB) could in future be treated using stem cells taken from their own bone marrow, according to the results of an early-stage trial of the technique. The finding, made by British and Swedish scientists, could pave the way for the development of a new treatment for the estimated 450,000 people worldwide who have multi drug-resistant (MDR) or extensively drug-resistant (XDR) TB. In a study in The Lancet Respiratory Medicine journal on Thursday, researchers said more than half of 30 drug-resistant TB patients treated with a transfusion of their own bone marrow stem cells were cured of the disease after six months. The results ... show that the current challenges and difficulties of treating MDR-TB are not insurmountable, and they bring a unique opportunity with a fresh solution to treat hundreds of thousands of people who die unnecessarily, said TB expert Alimuddin Zumla at University College London, who co-led the study. TB, which infects the lungs and can spread from one person to another through coughing and sneezing, is often falsely thought of as a disease of the past. In recent years, drug-resistant strains of the disease have spread around the world, batting off standard antibiotic drug treatments. The World Health Organization (WHO) estimates that in Eastern Europe, Asia and South Africa 450,000 people have MDR-TB, and around half of these will fail to respond to existing treatments. TB bacteria trigger an inflammatory response in immune cells and surrounding lung tissue that can cause immune dysfunction and tissue damage. Bone-marrow stem cells are known to migrate to areas of lung injury and inflammation and repair damaged tissue. Since they also modify the bodys immune response and could boost the clearance of TB bacteria, Zumla and his colleague, Markus Maeurer from Stockholms Karolinska University Hospital, wanted to test them in patients with the disease. In a phase 1 trial, 30 patients with either MDR or XDR TB aged between 21 and 65 who were receiving standard TB antibiotic treatment were also given an infusion of around 10 million of their own stem cells. The cells were obtained from the patients own bone marrow, then grown into large numbers in the laboratory before being re-transfused into the same patient, the researchers explained. During six months of follow-up, the researchers found that the infusion treatment was generally safe and well tolerated, with no serious side effects recorded. The most common non-serious side effects were high cholesterol levels, nausea, low white blood cell counts and diarrhea. Although a phase 1 trial is primarily designed only to test a treatments safety, the scientists said further analyzes of the results showed that 16 patients treated with stem cells were deemed cured at 18 months compared with only five of 30 TB patients not treated with stem cells. Maeurer stressed that further trials with more patients and longer follow-up were needed to better establish how safe and effective the stem cell treatment was. But if future tests were successful, he said, it could become a viable extra new treatment for patients with MDR-TB who do not respond to conventional drug treatment or those with severe lung damage.

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Bone marrow stem cells could defeat drug-resistant TB

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Washington, Jan. 11 : Researchers have developed a prototype of artificial bone marrow that may be used to reproduce hematopoietic stem cells.

The porous structure developed by the scientists of KIT, the Max Planck Institute for Intelligent Systems, Stuttgart, and Tubingen University, possesses essential properties of natural bone marrow and can be used for the reproduction of stem cells at the laboratory.

This might facilitate the treatment of leukemia in a few years.

Blood cells, such as erythrocytes or immune cells, are continuously replaced by new ones supplied by hematopoietic stem cells located in a specialized niche of the bone marrow.

Hematopoietic stem cells can be used for the treatment of blood diseases, such as leukemia. The affected cells of the patient are replaced by healthy hematopoietic stem cells of an eligible donor.

However, not every leukemia patient can be treated in this way, as the number of appropriate transplants is not sufficient. This problem might be solved by the reproduction of hematopoietic stem cells.

The stem cell niche is a complex microscopic environment having specific properties. The relevant areas in the bone are highly porous and similar to a sponge.

This three-dimensional environment does not only accommodate bone cells and hematopoietic stem cells but also various other cell types with which signal substances are exchanged. Moreover, the space among the cells has a matrix that ensures certain stability and provides the cells with points to anchor. In the stem cell niche, the cells are also supplied with nutrients and oxygen.

The newly developed artificial bone marrow that possesses major properties of natural bone marrow can now be used by the scientists to study the interactions between materials and stem cells in detail at the laboratory.

The study was published in the Biomaterials journal.

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Artificial bone marrow development brings leukemia treatment closer to reality

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Bone marrow nurtures both red blood cells and white blood cells, with healthy people producing more than 500 billion red- and-white blood cells every day. But when bone marrow is damaged by a disease like leukemia, or by radiation or chemotherapy drugs, the supply of blood cells drops, leaving a person at risk for fatal infections.

Leukemia and other types of bone-marrow diseases are often treated by transplanting healthy hematopoietic stem cells, which can develop into various kinds of blood cells, from another person. The donor cells can be taken from another persons bone marrow or bloodstream, or from preserved umbilical cords and placentas. But finding a matching donor can be difficult, and the amount of stem cells harvested from the donor may not always be enough to meet the needs of the patient.

One thing that doctors want to be able to do is to find a way to cultivate a bumper crop of stem cells. But blood stem cells thrive in a very specific environment inside bone marrow. And bone marrow has a very complex architecture, like a tiny sponge that contains many sizes of pores, and special docking proteins for stem cells.

"We assume that stem cells [do] not only notice the chemical composition of their surroundings., Karlsruhe Institute of Technology researcher and co-author of the study Cornelia Lee-Thedieck told German broadcaster Deutsche Welle. They can probably also feel if their environment is soft or hard, rough or smooth.

Lee-Thedieck and colleagues used a simple, porous polymer to mimic a sponge-like structure for the base of their artificial bone marrow. They added proteins similar to ones found in bone marrow to act as docking points for the blood stem cells, and added other cells to help ferry necessary molecular messages and materials back and forth.

When hematopoietic stem cells from cord blood were introduced to the artificial environment, they thrived much better than in standard 2-dimensional cell-culture systems. But the authors guess that it will be at least another 15 years before most patients will be able to benefit from this invention.

"Producing artificial bone marrow for culturing and multiplying blood stem cells is a potentially interesting application," Martin Bornhuser, a researcher from the University Hospital Dresden unaffiliated with the current paper, told DW. "It would make it possible to generate a sufficient number of stem cells from a small amount to transplant into an adult patient.

SOURCE: Raic et al. Biomimetic macroporous PEG hydrogels as 3D scaffolds for the multiplication of human hematopoietic stem and progenitor cells. Biomaterials 35: 929-940, January 2014.

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Artificial Bone Marrow Created By German Scientists, Could Be Used To Treat Leukemia Someday

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By Steven Reinberg HealthDay Reporter

THURSDAY, Jan. 9, 2014 (HealthDay News) -- A new, preliminary treatment involving triple-gene therapy appears safe and effective in helping to control motor function in Parkinson's disease patients, according to new research.

The therapy, called ProSavin, works by reprogramming brain cells to produce dopamine, the chemical essential for controlling movement, the researchers said. Lack of dopamine causes the tremors, limb stiffness and loss of balance that patients with the neurodegenerative disease suffer.

"We demonstrated that we are able to safely administer genes into the brain of patients and make dopamine, the missing agent in Parkinson's patients," said researcher Kyriacos Mitrophanous, head of research at Oxford BioMedica in England, the company that developed the therapy and funded the study.

ProSavin also helps to smooth out the peaks and valleys often produced by the drug levodopa, the current standard treatment, Mitrophanous said.

The treatment uses a harmless virus to deliver three dopamine-making genes directly to the area of the brain that controls movement, he explained. These genes are able to convert non-dopamine-producing nerve cells into dopamine-producing cells.

Although the study results are promising, the researchers suggest they should be "interpreted with caution" because the perceived benefits fall into the range of "placebo effect" seen with other clinical trials.

Hoping to improve on their results, the researchers have since re-engineered the therapy. "We have a new version which makes more dopamine in patients, and this new version is undergoing safety studies before we initiate trails in patients," he said.

Experts reacted positively but cautiously to the findings, which were published online Jan. 10 in The Lancet. While the treatment seems safe, its potential as a replacement for current therapy still must be proved, they noted.

"The ProSavin study was a positive and important first step for a potential gene therapy for Parkinson's disease," said Dr. Michael Okun, national medical director at the National Parkinson Foundation. "The results of this preliminary study revealed a promising safety profile, and it will be interesting to observe longer-term benefits and how ProSavin will compare to other therapies such as deep brain stimulation."

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Gene therapy may hold promise for advanced Parkinson's disease

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