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

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

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

How Does This Stem Cell Cancer Treatment Work?

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

What is Pseudomonas Exotoxin?

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

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IPS Cell Therapy

SAN DIEGO(BUSINESS WIRE)Cytori Therapeutics, Inc. (NASDAQ: CYTX) today confirmed that two Japanese regenerative medicine laws, which went into effect on November 25, 2014, remove regulatory uncertainties and provide a clear path for the Company to commercialize and market Cytori Cell Therapy and its Celution System under the Companys existing and planned regulatory approvals.

Japans new regenerative medicine laws substantially clarify regulatory ambiguities of pre-existing guidelines and this news represents a significant event for Cytori, said Dr. Marc Hedrick, President & CEO of Cytori. We have a decade of operating experience in Japan and Cytori is nicely positioned to see an impact both on existing commercial efforts and on our longer-term efforts to obtain therapeutic claims and reimbursement for our products.

Under the two new laws, Cytori believes its Celution System and autologous adipose-derived regenerative cells (ADRCs) can be provided by physicians under current Class I device regulations and used under the lowest risk category (Tier 3) for many procedures with only the approval by accredited regenerative medicine committees and local agencies of the Ministry of Health, Labour and Welfare (MHLW). This regulatory framework is expected to streamline the approval and regulatory process and increase clinical use of Cytori Cell Therapy and the Celution System over the former regulations.

Before these new laws were enacted, the regulatory pathway for clinical use of regenerative cell therapy was one-size-fits-all, irrespective of the risk posed by certain cell types and approaches, said Dr. Hedrick. Now, Cytoris point-of-care Celution System can be transparently integrated into clinical use by providers under our Class I device status and the streamlined approval process granted to cell therapies that pose the lowest risk. Our technology is unique in that respect.

Cytoris Celution System Is in Lowest of Three Risk Categories

The Act on the Safety of Regenerative Medicines and an amendment of the 2013 Pharmaceutical Affairs Act (the PMD Act), collectively termed the Regenerative Medicine Laws, replace the Human Stem Cell Guidelines. Under the new laws, the cell types used in cell therapy and regenerative medicine are classified based on risk. Cell therapies using cells derived from embryonic, induced pluripotent, cultured, genetically altered, animal and allogeneic cells are considered higher risk (Tiers 1 and 2) and will undergo an approval pathway with greater and more stringent oversight due to the presumed higher risk to patients. Cytoris Celution System, which uses the patients own cells at the point-of-care, will be considered in the lowest risk category (Tier 3) for most cases, and will be considered in Tier 2 if used as a non-homologous therapy.

Streamlined Regulatory Approval for Certain Medical Devices

In the near future, Cytori intends to pursue disease-specific or therapeutic claims and reimbursement for Cytoris Celution System and the Company would, at that point, sponsor a clinical trial to obtain Class III device-based approval and reimbursement. The new laws include changes to streamline regulation of Class II and some Class III devices, which will now require the approval of certification bodies rather than the PMDA, similar to the European notified body model. To date, certification bodies have only been used for some Class II devices.

Conditional Regulatory Approval and Reimbursement Potential

As a supplementary benefit to Cytori, the Company may also choose to take advantage of the new conditional approval opportunities granted under the new laws. Once clinical safety and an indication of efficacy are shown, sponsors may apply for their cell product to receive conditional approval for up to seven years and may be eligible for reimbursement under Japans national insurance coverage. Under the conditional approval, the sponsor can then generate post-marketing data to demonstrate further efficacy and cost effectiveness.

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japanese | StemCell Therapy MD

There have been hundreds of science fiction stories and books written about growing organs in scientific laboratories as replacements for those that no longer function properly, or about injecting scientifically transmuted cells into ailing patients that can repair the broken cells within their bodies, bringing them back to robust health. In todays language what they were talking about was Induced Pluripotent Stem Cell (iPSC) Therapy.

Here, in the early 21st century, the gap between science fiction and science truth is closing at a record rate due to the rapid progress made in iPSC Therapy research, especially over the last three years.

After the virtual stop order placed on embryonic cell stem research in 2001, the race to find an alternative type of stem cell began in earnest, and in 2006 Shinya Yamanaka of Kyoto University in Japan announced his teams successful reprogramming of mouse cells into iPSCs. This was the breakthrough that made it possible for stem cell research to continue without the use of controversial embryonic stem cells.

The next major announcement came in 2007, again from Yamanaka in Japan, followed by one only a few weeks later by James A. Thompson from the University of Wisconsin, detailing the making of iPSC from adult human cells. Again, neither used embryos in their experiments.

From that time on the goal has been developing stem cell science that will eventually be safe iPS Cell Therapy modalities to be used in Regenerative or Reparative Medicine. What kinds of illnesses or diseases will iPSC Therapies be used to treat in the future? Only a partial list would include:

The world of iPSC Therapy research is wide open today and its on the move! This website is dedicated to bringing you first, the story of stem cell research, both embryonic and iPStem Cell, and the controversy surrounding them, as well as the most up to date information in the easiest to understand language about major milestone accomplishments in the field.

If you were to go back 100 years you would be amazed by how primitive medicine was. Even 60 years ago there were no organ transplants, no cystoscopic surgeries, and there was a massive polio outbreak in the United States that closed public swimming pools and beaches and other public gathering places across the country for the summer. Who can tell where medicine will be in 10 or 15 years? There is no predicting, but with the rapid advancement of the last few years and the bright promise shown so far, iPSC Therapy is sure to play a major role.

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iPSCTherapy.com: Induced Pluripotent Stem Cell therapy ...

CRISPR-Cas9 is a powerful new tool for editing the genome. For researchers around the world, the CRISPR-Cas9 technique is an exciting innovation because it is faster and cheaper than previous methods. Now, using a molecular trick, Dr. Van Trung Chu and Professor Klaus Rajewsky of the Max Delbrck Center for Molecular Medicine (MDC) Berlin-Buch and Dr. Ralf Khn, MDC and Berlin Institute of Health (BIH), have found a solution to considerably increase the efficiency of precise genetic modifications by up to eightfold.

"What we used to do in years, we can now achieve in months," said gene researcher and immunologist Klaus Rajewsky, indicating the power of this new genome-editing technology. CRISPR-Cas9 not only speeds up research considerably - at the same time it is much more efficient, cheaper and also easier to handle than the methods used so far.

The CRISPR-Cas9 technology allows researchers to transiently introduce DNA double-strand breaks into the genome of cells or model organisms at genes of choice. In these artificially produced strand breaks, they can insert or cut out genes and change the genetic coding according to their needs.

Mammalian cells are able to repair DNA damage in their cells using two different repair mechanisms. The homology-directed repair (HDR) pathway enables the insertion of preplanned genetic modifications using engineered DNA molecules that share identical sequence regions with the targeted gene and which are recognized as a repair template. Thus, HDR repair is very precise but occurs only at low frequency in mammalian cells.

The other repair system, called non-homologous end-joining (NHEJ) is more efficient in nature but less precise, since it readily reconnects free DNA ends without repair template, thereby frequently deleting short sequences from the genome. Therefore, NHEJ repair can only be used to create short genomic deletions, but does not support precise gene modification or the insertion and replacement of gene segments.

Many researchers, including Van Trung Chu, Klaus Rajewsky and Ralf Khn, are seeking to promote the HDR repair pathway to make gene modification in the laboratory more precise in order to avoid editing errors and to increase efficiency. The MDC researchers succeeded in increasing the efficiency of the more precisely working HDR repair system by temporarily inhibiting the most dominant repair protein of NHEJ, the enzyme DNA Ligase IV. In their approach they used various inhibitors such as proteins and small molecules.

"But we also used a trick of nature and blocked Ligase IV with the proteins of adeno viruses. Thus we were able to increase the efficiency of the CRISPR-Cas9 technology up to eightfold," Ralf Khn explained. For example, they succeeded in inserting a gene into a predefined position in the genome (knock-in) in more than 60 per cent of all manipulated mouse cells. Khn has just recently joined the MDC and is head of the research group for "iPS cell based disease modeling." Before coming to the MDC, he was on the research staff of Helmholtz Zentrum Mnchen. "The expertise of Ralf Khn is very important for gene research at MDC and especially for my research group," Klaus Rajewsky said.

Concurrent with the publication of the article by the MDC researchers, Nature Biotechnology published another, related paper on CRISPR-Cas9 technology. It comes from the laboratory of Hidde Ploegh of the Whitehead Institute in Cambridge, MA, USA.

Somatic gene therapy with CRISPR-Cas9 is a goal

The new CRISPR-Cas9 technology, developed in 2012, is already used in the laboratory to correct genetic defects in mice. Researchers also plan to modify the genetic set up of induced pluripotent stem cells (iPS), which can be differentiated into specialized cell types or tissues. That is, researchers are able to use the new tool to introduce patient-derived mutations into the genome of iPS cells for studying the onset of human diseases. "Another future goal, however, is to use CRISPR-Cas9 for somatic gene therapy in humans with severe diseases," Klaus Rajewsky pointed out.

More here:
Researchers greatly increase precision of new genome editing tool

CRISPR-Cas9 is a powerful new tool for editing the genome. For researchers around the world, the CRISPR-Cas9 technique is an exciting innovation because it is faster and cheaper than previous methods. Now, using a molecular trick, Dr. Van Trung Chu and Professor Klaus Rajewsky of the Max Delbrck Center for Molecular Medicine (MDC) Berlin-Buch and Dr. Ralf Khn, MDC and Berlin Institute of Health (BIH), have found a solution to considerably increase the efficiency of precise genetic modifications by up to eightfold (Nature Biotechnology: doi:10.1038/nbt.3198)**.

"What we used to do in years, we can now achieve in months," said gene researcher and immunologist Klaus Rajewsky, indicating the power of this new genome-editing technology. CRISPR-Cas9 not only speeds up research considerably - at the same time it is much more efficient, cheaper and also easier to handle than the methods used so far.

The CRISPR-Cas9 technology allows researchers to transiently introduce DNA double-strand breaks into the genome of cells or model organisms at genes of choice. In these artificially produced strand breaks, they can insert or cut out genes and change the genetic coding according to their needs.

Mammalian cells are able to repair DNA damage in their cells using two different repair mechanisms. The homology-directed repair (HDR) pathway enables the insertion of preplanned genetic modifications using engineered DNA molecules that share identical sequence regions with the targeted gene and which are recognized as a repair template. Thus, HDR repair is very precise but occurs only at low frequency in mammalian cells.

The other repair system, called non-homologous end-joining (NHEJ) is more efficient in nature but less precise, since it readily reconnects free DNA ends without repair template, thereby frequently deleting short sequences from the genome. Therefore, NHEJ repair can only be used to create short genomic deletions, but does not support precise gene modification or the insertion and replacement of gene segments.

Many researchers, including Van Trung Chu, Klaus Rajewsky and Ralf Khn, are seeking to promote the HDR repair pathway to make gene modification in the laboratory more precise in order to avoid editing errors and to increase efficiency. The MDC researchers succeeded in increasing the efficiency of the more precisely working HDR repair system by temporarily inhibiting the most dominant repair protein of NHEJ, the enzyme DNA Ligase IV. In their approach they used various inhibitors such as proteins and small molecules.

"But we also used a trick of nature and blocked Ligase IV with the proteins of adeno viruses. Thus we were able to increase the efficiency of the CRISPR-Cas9 technology up to eightfold," Ralf Khn explained. For example, they succeeded in inserting a gene into a predefined position in the genome (knock-in) in more than 60 per cent of all manipulated mouse cells. Khn has just recently joined the MDC and is head of the research group for "iPS cell based disease modeling". Before coming to the MDC, he was on the research staff of Helmholtz Zentrum Mnchen. "The expertise of Ralf Khn is very important for gene research at MDC and especially for my research group," Klaus Rajewsky said.

Concurrent with the publication of the article by the MDC researchers, Nature Biotechnology published another, related paper on CRISPR-Cas9 technology. It comes from the laboratory of Hidde Ploegh of the Whitehead Institute in Cambridge, MA, USA.

Somatic gene therapy with CRISPR-Cas9 is a goal

The new CRISPR-Cas9 technology, developed in 2012, is already used in the laboratory to correct genetic defects in mice. Researchers also plan to modify the genetic set up of induced pluripotent stem cells (iPS), which can be differentiated into specialized cell types or tissues. That is, researchers are able to use the new tool to introduce patient-derived mutations into the genome of iPS cells for studying the onset of human diseases. "Another future goal, however, is to use CRISPR-Cas9 for somatic gene therapy in humans with severe diseases," Klaus Rajewsky pointed out.

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MDC researchers greatly increase precision of new genome editing tool

Steve Perrin, Ph.D., CEO and CSO, discusses why iPS technology is ready for drug discovery for today's ALS patients. Click here to learn why Steve believes TDI is uniquely suited to implement this technology in ALS research.

Fernando Vieira, M.D., director of research operations, discusses how iPS technology can be used to model sporadic ALS, help to identify sub-types of ALS patients and accelerate drug development as part of a comprehensive translational research program at ALS TDI.

Jessie St. Martin, associate scientist, talks about induced pluripotent stem cells (iPS cells) and their importance in ALS research. Jessie, a recent addition to the translational research team, will play an integral part in developing this program at ALS TDI. Click here to learn more about iPS cells.

Jenny Dwyer, board member, explains why your support of the iPS program at ALS TDI may have the ability to rapidly accelerate treatments for today's patients. Jenny was a longtime ALS caregiver of her husband, Pat. Together, they were advocates for ALS research. Click here to listen to her message.

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Invest in iPS @ TDI | ALS Therapy Development Institute

1 Control of Pluripotency Laboratory, Department of Physiological Sciences I, Faculty of Medicine, University of Barcelona, Hospital Clinic, Casanova 143, 08036, Barcelona, Spain 2 Faculty of Medicine, University of Sydney Medical School, Division of Pediatrics and Child Health, Westmead Children's Hospital, Locked Bag 4001, Westmead NSW 2145, Sydney, Australia 3 School of Anatomy Physiology & Human Biology and The Harry Perkins Institute for Medical Research (CCTRM), the University of Western Australia, 6 Verdun St, Nedlands WA 6009, Perth, Australia

* Author to whom correspondence should be addressed.

Received: 1 October 2014 / Accepted: 3 December 2014 / Published: 29 January 2015

Abstract: The use of adult myogenic stem cells as a cell therapy for skeletal muscle regeneration has been attempted for decades, with only moderate success. Myogenic progenitors (MP) made from induced pluripotent stem cells (iPSCs) are promising candidates for stem cell therapy to regenerate skeletal muscle since they allow allogenic transplantation, can be produced in large quantities, and, as compared to adult myoblasts, present more embryonic-like features and more proliferative capacity in vitro, which indicates a potential for more self-renewal and regenerative capacity in vivo. Different approaches have been described to make myogenic progenitors either by gene overexpression or by directed differentiation through culture conditions, and several myopathies have already been modeled using iPSC-MP. However, even though results in animal models have shown improvement from previous work with isolated adult myoblasts, major challenges regarding host response have to be addressed and clinically relevant transplantation protocols are lacking. Despite these challenges we are closer than we think to bringing iPSC-MP towards clinical use for treating human muscle disease and sporting injuries.

Roca, I.; Requena, J.; Edel, M.J.; Alvarez-Palomo, A.B. Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy. J. Clin. Med. 2015, 4, 243-259.

Roca I, Requena J, Edel MJ, Alvarez-Palomo AB. Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy. Journal of Clinical Medicine. 2015; 4(2):243-259.

Roca, Isart; Requena, Jordi; Edel, Michael J.; Alvarez-Palomo, Ana B. 2015. "Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy." J. Clin. Med. 4, no. 2: 243-259.

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IMAGE:Induced pluripotent stem cell-derived motor neurons from an ALS patient (left) compared with normal cells (right). The cells are being used to study the role of the genes TBK1 and... view more

NEW YORK, NY (February 19, 2015)--Using advanced DNA sequencing methods, researchers have identified a new gene that is associated with sporadic amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease. ALS is a devastating neurodegenerative disorder that results in the loss of all voluntary movement and is fatal in the majority of cases. The next-generation genetic sequencing of the exomes (protein-coding portions) of 2,874 ALS patients and 6,405 controls represents the largest number of ALS patients to have been sequenced in a single study to date.

Though much is known about the genetic underpinnings of familial ALS, only a handful of genes have been definitively linked to sporadic ALS, which accounts for about 90 percent of all ALS cases. The newly associated gene, called TBK1, plays a key role at the intersection of two essential cellular pathways: inflammation (a reaction to injury or infection) and autophagy (a cellular process involved in the removal of damaged cellular components). The study, conducted by an international ALS consortium that includes scientists and clinicians from Columbia University Medical Center (CUMC), Biogen Idec, and HudsonAlpha Institute for Biotechnology, was published today in the online edition of Science.

"The identification of TBK1 is exciting for understanding ALS pathogenesis, especially since the inflammatory and autophagy pathways have been previously implicated in the disease," said Lucie Bruijn, PhD, Chief Scientist for The ALS Association. "The fact that TBK1 accounts for one percent of ALS adds significantly to our growing understanding of the genetic underpinnings of the disease. This study, which combines the efforts of over two dozen laboratories in six countries, also highlights the global and collaborative nature of ALS research today.

"This study shows us that large-scale genetic studies not only can work very well in ALS, but that they can help pinpoint key biological pathways relevant to ALS that then become the focus of targeted drug development efforts," said study co-leader David B. Goldstein, PhD, professor of genetics and development and director of the new Institute for Genomic Medicine at CUMC. "ALS is an incredibly diverse disease, caused by dozens of different genetic mutations, which we're only beginning to discover. The more of these mutations we identify, the better we can decipher--and influence--the pathways that lead to disease." The other co-leaders of the study are Richard M. Myers, PhD, president and scientific director of HudsonAlpha, and Tim Harris, PhD, DSc, Senior Vice President, Technology and Translational Sciences, Biogen Idec.

"These findings demonstrate the power of exome sequencing in the search for rare variants that predispose individuals to disease and in identifying potential points of intervention. We are following up by looking at the function of this pathway so that one day this research may benefit the patients living with ALS," said Dr. Harris. "The speed with which we were able to identify this pathway and begin our next phase of research shows the potential of novel, focused collaborations with the best academic scientists to advance our understanding of the molecular pathology of disease. This synergy is vital for both industry and the academic community, especially in the context of precision medicine and whole-genome sequencing."

"Industry and academia often do things together, but this is a perfect example of a large, complex project that required many parts, with equal contributions from Biogen Idec. Dr. Tim Harris, our collaborator there, and his team, as well as David Goldstein and his team, now at Columbia University, as well as our teams here at HudsonAlpha, said Dr. Myers. "I love this research model because it doesn't happen very frequently, and it really shows how industry, nonprofits, and academic laboratories can all work together for the betterment of humankind. The combination of those groups with a large number of the clinical collaborators who have been seeing patients with this disease for many years and providing clinical information, recruiting patients, as well as collecting DNA samples for us to do this study, were all critical to get this done."

Searching through the enormous database generated in the ALS study, Dr. Goldstein and his colleagues found several genes that appear to contribute to ALS, most notably TBK1 (TANK-Binding Kinase 1), which had not been detected in previous, smaller-scale studies. TBK1 mutations appeared in about 1 percent of the ALS patients--a large proportion in the context of a complex disease with multiple genetic components, according to Dr. Goldstein. The study also found that a gene called OPTN, previously thought to play a minor role in ALS, may actually be a major player in the disease.

"Remarkably, the TBK1 protein and optineurin, which is encoded by the OPTN gene, interact physically and functionally. Both proteins are required for the normal function of inflammatory and autophagy pathways, and now we have shown that mutations in either gene are associated with ALS," said Dr. Goldstein. "Thus there seems to be no question that aberrations in the pathways that require TBK1 and OPTN are important in some ALS patients."

The researchers are currently using patient-derived induced pluripotent embryonic stem cells (iPS cells) and mouse models with mutations in TBK1 or OPTN to study ALS disease mechanisms and to screen for drug candidates. Several compounds that affect TBK1 signaling have already been developed for use in cancer, where the gene is thought to play a role in tumor-cell survival.

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New ALS gene and signaling pathways identified

CHICAGO -- The International Society for Stem Cell Research's 13th annual meeting will take place June 24-27, 2015 at the Stockholmsmssan Exhibition and Convention Center in Stockholm, Sweden. The meeting will bring together approximately 4,000 stem cell scientists, bioethicists, clinicians and industry professionals from over 50 countries to present and discuss the latest discoveries and technologies within the field.

"The ISSCR is excited to bring its annual meeting to Stockholm, a city that shares our passion and reputation for great scientific research and collaboration," said ISSCR President Rudolf Jaenisch, M.D., Whitehead Institute for Biomedical Research. "We look forward to learning more about the strong work being done in Sweden and across Europe."

The meeting will open with the Presidential Symposium on June 24 from 1:15-3:15 p.m. local time. The symposium sets the stage for the meeting with world renowned speakers, including Nobel Prize winner Shinya Yamanaka. It is also the platform for the formal recognition of the 2015 recipients of the McEwen Award for Innovation and the ISSCR Public Service Award. Another prestigious award, the ISSCR-BD Biosciences Outstanding Young Investigator Award, will be presented during Plenary VI on June 27 from 9-11:20 a.m. and followed by an award lecture.

"I look forward to the Presidential Symposium setting the tone for the entire program," Jaenisch said. "A thread throughout will be the use of stem cells to drive our understanding of development and disease, as we explore disease modeling, gene and tissue engineering technologies and other important advances that are bringing stem cells into the clinic."

Presidential Symposium speakers will include:

Fred H. Gage, Ph.D., Salk Institute for Biological Sciences, U.S.

Jrgen Knoblich, Ph.D., Institute of Molecular Biotechnology, Austria

Shinya Yamanaka, M.D., Ph.D., Center for iPS Cell Research & Application, Japan

Jeannie Lee, M.D., Ph.D., Massachusetts General Hospital, U.S.

The McEwen Award for Innovation award winners (Presidential Symposium):

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The International Society for Stem Cell Research announces annual meeting details

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Newswise NEW YORK, NY (February 27, 2015) Researchers have for the first time successfully converted adult human skin cells into neurons of the type that regulate appetite, providing a patient-specific model for studying the neurophysiology of weight control and testing new therapies for obesity. The study, led by researchers at Columbia University Medical Center (CUMC) and at the New York Stem Cell Foundation (NYSCF), was published last month in the online issue of the Journal of Clinical Investigation.

In a separate study, which appeared in the February 10 issue of the journal Development, Kevin Eggan, PhD, Florian Merkle, and Alexander Schier of Harvard University have also succeeded in creating hypothalamic neurons from iPS cells. These neurons help to regulate behavioral and basic physiological functions in the human body, including, in addition to appetite, hypertension, sleep, mood, and some social disorders. The investigators at Columbia and Harvard shared ideas during the course of the research, and these studies are co-validating.

Mice are a good model for studying obesity in humans, but it would better to have human cells for testing. Unfortunately, the cells that regulate appetite are located in an inaccessible part of the brain, the hypothalamus. So, until now, weve had to make do with a mouse model or with human cells harvested at autopsy. This has greatly limited our ability to study fundamental aspects of human obesity, said senior author Rudolph L. Leibel, MD, the Christopher J. Murphy Memorial Professor of Diabetes Research, professor of pediatrics and medicine, and co-director of the Naomi Berrie Diabetes Center at CUMC.

To make the neurons, human skin cells were first genetically reprogrammed to become induced pluripotent stem (iPS) cells. Like natural stem cells, iPS cells are capable of developing into any kind of adult cell when given a specific set of molecular signals in a specific order. The iPS cell technology has been used to create a variety of adult human cell types, including insulin-producing beta cells and forebrain and motor neurons. But until now, no one has been able to figure out how to convert human iPS cells into hypothalamic neurons, said co-author Dieter Egli, PhD, assistant professor of pediatrics (in developmental cell biology), a member of the Naomi Berrie Diabetes Center, and a senior research fellow at NYSCF.

This is a wonderful example of several institutions coming together to collaborate and advance research in pursuit of new therapeutic interventions. The ability to make this type of neuron brings us one step closer to the development of new treatments for obesity, said Susan L. Solomon, CEO of NYSCF.

The CUMC/NYSCF team determined which signals are needed to transform iPS cells into arcuate hypothalamic neurons, a neuron subtype that regulates appetite. The transformation process took about 30 days. The neurons were found to display key functional properties of mouse arcuate hypothalamic neurons, including the ability to accurately process and secrete specific neuropeptides and to respond to metabolic signals such as insulin and leptin.

We dont think that these neurons are identical to natural hypothalamic neurons, but they are close and will still be useful for studying the neurophysiology of weight control, as well as molecular abnormalities that lead to obesity, said Dr. Leibel. In addition, the cells will allow us to evaluate potential obesity drugs in a way never before possible.

This shows, said Dr. Eggan, how improved understanding of stem cell biology is making an impact on our ability to study, understand, and eventually treat disorders of the nervous system. Because there are so few hypothalamic neurons of a given type, they have been notoriously difficult to study. The successful work by both groups shows that this problem has been cracked.

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Neurons Controlling Appetite Made From Skin Cells

Jeanne Loring holds a petri dish with induced pluripotent stem cells from a Parkinsons patient.

A nine-year legal challenge to human embryonic stem cell patents ended Tuesday, when the Supreme Court declined to hear the case.

The decision means the Wisconsin Alumni Research Foundation, or WARF, will get to keep its patent rights for the cells, which were discovered in 1998 by University of Wisconsin - Madison scientist James Thompson.

However, the challengers succeeded in preventing WARF from gaining rights over another important type of stem cells called induced pluripotent stem cells, said Jeanne Loring, a stem cell scientist at The Scripps Research Institute in La Jolla who was part of a coalition contesting the WARF patents.

IPS cells act much like human embryonic stem cells, and are being researched as an alternative for stem cell therapy. Loring is working with a group that seeks to use them to treat Parkinson's disease.

WARF maintains it has the right to license use of human embryonic stem cells, because Thompson developed the methods to isolate them from embryos, which had not been previously done. Loring said the derivation is an obvious extension of methods used to derive non-primate embryonic stem cells, and therefore not patentable.

Loring and two public interest groups, Consumer Watchdog and the Public Patent Foundation, challenged the patents in 2006, and in 2007 succeeded in narrowing WARF's claims to exclude the IPS cells. Loring and the groups continued the challenge on the grounds that as a product of nature, human embryonic stem cells are not patentable.

The U.S. Patent and Trade Office turned down that challenge, and the case reached the Supreme Court last year. By not hearing the case, the Supreme Court let that decision stand.

"They still own human embryonic stem cells," Loring said. "But the way their patents were originally written, they would have also been able to own IPS cells. If there's one success that I would point to, that was worth all the effort, it's that they can't. And the reason they can't is because we challenged the patent."

Calls and an email sent Tuesday to WARF headquarters in Madison, Wis., were not immediately returned.

Read more:
Supreme Court rejects stem cell patent case

Kyoto University Hospital says it will open a center to conduct clinical studies on induced pluripotent stem cell therapies in 2019 year.

Officials said the 30-bed ward will test the efficacy and safety of the therapies on volunteer patients.

The hospital aims to break ground at the site next February and complete construction by September 2019.

As an iPS cell research hub, we hope to apply (the cells) to groundbreaking therapies and make developments in the field of drug discovery, the hospital said in a statement Monday.

Ongoing research on iPS cells at Kyoto University includes turning the cells into dopamine-releasing neurons for transplant into patients with Parkinsons disease, and creating a formulation of platelets that helps blood to clot.

Professor Shinya Yamanaka, who shared the 2012 Nobel Prize in medicine, leads the existing iPS cell research center at Kyoto University.

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Kyoto University Hospital to open iPS cell therapy center in 2019

Hepatology. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as:

PMCID: PMC2925460

NIHMSID: NIHMS221023

Recent advances in induced pluripotent stem (iPS) cell research significantly changed our perspective on regenerative medicine. Patient specific iPS cells have been derived not only for disease modeling but also as sources for cell replacement therapy. However, there have been insufficient data to prove that iPS cells are functionally equivalent to hES cells or safer than hES cells. There are several important issues which need to be addressed and foremost are the safety and efficacy of human iPS cells from different origins. Human iPS cells have been derived mostly from cells originated from mesoderm, with a few cases from ectoderm. So far there has been no report of endoderm derived human iPS cells, preventing comprehensive comparative investigations on the quality of human iPS cells from different origins.

Here we show for the first time reprogramming of human endoderm derived cells (i.e. primary hepatocytes) to pluripotency. Hepatocyte-derived iPS cells appear indistinguishable from human embryonic stem cells in colony morphology, growth properties, expression of pluripotency-associated transcription factors and surface markers, and differentiation potential in embryoid body formation and teratoma assays. In addition, these cells were able to directly differentiate into definitive endoderm, hepatic progenitors, and mature hepatocytes. The technology to develop endoderm derived human iPS cell lines, together with other established cell lines, will provide a foundation to elucidate the mechanisms of cellular reprogramming and to study the safety and efficacy of differentially originated human iPS cells for cell therapy. For studying liver disease pathogenesis, this technology also provides a potentially more amenable system to generate liver disease specific iPS cells.

Recent advances in induced pluripotent stem (iPS) cell research have provided great potential for these somatic cell-derived stem cells as sources for cell replacement therapy and for establishing disease models.114 Human iPS cells have been shown to be pluripotent in in vitro differentiation and in vivo teratoma assays, similar to human embryonic stem (hES) cells.914 Disease-specific iPS cell lines have been generated from fibroblasts and blood cells and some of the disease features have been recapitulated in tissue culture after directed differentiation of the iPS cells, demonstrating the power of this technology in disease modeling.13,15 However, several key issues have to be addressed in order for the iPS cells to be used for clinical purposes. First, although pluripotency has been demonstrated, it is premature to claim that iPS cells are functionally equivalent to hES cells. In fact, one study has suggested that iPS cells have distinct protein-coding and microRNA gene expression signatures from ES cells.1 These differences can not be completely explained by the reactivation of transgenes used in the reprogramming process since human iPS cells generated without viral or transgene integration also displayed a different transcriptional signature compared to hES cells.2 Secondly it was demonstrated that human iPS cells retained certain gene expression of the parent cells, suggesting that iPS cells from different origins may possess different capacity to differentiate.2 This issue is important not only for the purposes of generating functional cell types for therapy but also for safety implications. A comprehensive study using various mouse iPS cells has demonstrated that the origin of the iPS cells had a profound influence on the tumor-forming propensities in a cell transplantation therapy model.3 Mouse tail-tip fibroblast-iPS cells (mesoderm origin) showed the highest tumorigenic propensity, whereas gastric epithelial cell- and hepatocyte-iPS cells (both are endoderm) showed lower propensities.3 It is therefore extremely important to establish human iPS cell lines from multiple origins and thoroughly examine the source impact on both the safety issues and their differentiation potentials. In addition, the ability to reprogram human hepatocytes is crucial for developing liver disease models using iPS cells, especially for certain liver diseases carrying acquired somatic mutations which occur only in hepatocytes of patients, but not in other cell types.1620

In the mouse, iPS cells have been generated from derivatives of all three embryonic germ layers, including mesodermal fibroblasts,6 epithelial cells of endodermal origin7 and ectodermal keratinocytes,8 whereas human iPS cells have been produced mostly from mesoderm (fibroblasts and blood cells) or from ectoderm (keratinocytes and neural stem cells).913,21,22 Here we show reprogramming of human primary hepatocytes (endoderm) to pluripotency. Hepatocyte-derived iPS cells appear indistinguishable from human embryonic stem cells in colony morphology, growth properties, expression of pluripotency-associated transcription factors and surface markers, and differentiation potential in embryoid body (EB) formation as well as teratoma assays. In addition these cells were able to directly differentiate into definitive endoderm, hepatic progenitors, and mature hepatocytes.

Our study lays the ground work necessary to elucidate the mechanisms of cellular reprogramming and to study the safety and efficacy of differentially originated human iPS cells in cell therapy.

Primary human hepatocytes were obtained from Lonza plated on collagen 1 and matrigel coated dishes, and cultured in serum containing WEM (Willians' Medium E), Gentamicin, Dexamethasone 10 mM, FBS 5%, L-Glutamine, Hepes 15mM, Insulin 4 mg/ml with 50ng/ml of HGF and EGF. Medium for culturing hES cells and iPS cells is Knockout DMEM supplemented with 20% KOSR, NEAA, 2-ME, GlutaMAX, 6 ng/ml basic fibroblast growth factor (all Invitrogen). hESC lines WA09 (H9) and WA01 (H1) (WiCell) were cultured on irradiated MEF feeder layers in ES medium. This study was done in accordance with Johns Hopkins ESCRO regulations and following a protocol approved by the Johns Hopkins IRB.

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Generation of Endoderm derived Human iPS cells from ...

Characterization of mdx-iPS with DYS-HAC. (a) Morphology of mdx-MEF, mdx-iPS, and mdx-iPS (DYS-HAC) cells. Phase-contrast (left panel) and GFP-fluorescence (right panel) micrographs are shown. (b) Genomic PCR analyses for detecting DYS-HAC in mdx-iPS cells. (c) FISH analyses for mdx-iPS (DYS-HAC) cells. An arrow indicates the DYS-HAC and the inset shows an enlarged image of the DYS-HAC. (d) RT-PCR analyses of ES cellmarker genes, four exogenous transcription factors, and human dystrophin. EGFP and Nat1 were used as internal controls. Primers for DYS 6L/6R, 7L/7R, and 8L/8R detected the isoform of dystrophin expressed in ES and iPS cells. (e) Immunohistochemical analyses of dystrophin in muscle-like tissues of each teratoma. Immunodetection of mouse and human dystrophin (left panel), immunodetection of human-specific dystrophin (middle panel), and GFP micrography (right panel) are shown. The insets show enlarged images of immunohistochemistry. Nanog-iPS- and mdx-iPS-derived teratomas were used as positive and negative controls, respectively. CHO, Chinese hamster ovary; EGFP, enhanced green fluorescent protein; GFP, green fluorescent protein; HAC, human artificial chromosome; iPS, induced pluripotent stem cells; MEF, mouse embryonic fibroblast.

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Complete genetic correction of ips cells from Duchenne ...

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A powerful "genome editing" technology known as CRISPR has been used by researchers since 2012 to trim, disrupt, replace or add to sequences of an organism's DNA. Now, scientists at Johns Hopkins Medicine have shown that the system also precisely and efficiently alters human stem cells.

In a recent online report on the work in Molecular Therapy, the Johns Hopkins team says the findings could streamline and speed efforts to modify and tailor human-induced pluripotent stem cells (iPSCs) for use as treatments or in the development of model systems to study diseases and test drugs.

"Stem cell technology is quickly advancing, and we think that the days when we can use iPSCs for human therapy aren't that far away," says Zhaohui Ye, Ph.D., an instructor of medicine at the Johns Hopkins University School of Medicine. "This is one of the first studies to detail the use of CRISPR in human iPSCs, showcasing its potential in these cells."

CRISPR originated from a microbial immune system that contains DNA segments known as clustered regularly interspaced short palindromic repeats. The engineered editing system makes use of an enzyme that nicks together DNA with a piece of small RNA that guides the tool to where researchers want to introduce cuts or other changes in the genome.

Previous research has shown that CRISPR can generate genomic changes or mutations through these interventions far more efficiently than other gene editing techniques, such as TALEN, short for transcription activator-like effector nuclease.

Despite CRISPR's advantages, a recent study suggested that it might also produce a large number of "off-target" effects in human cancer cell lines, specifically modification of genes that researchers didn't mean to change.

To see if this unwanted effect occurred in other human cell types, Ye; Linzhao Cheng, Ph.D., a professor of medicine and oncology in the Johns Hopkins University School of Medicine; and their colleagues pitted CRISPR against TALEN in human iPSCs, adult cells reprogrammed to act like embryonic stem cells. Human iPSCs have already shown enormous promise for treating and studying disease.

The researchers compared the ability of both genome editing systems to either cut out pieces of known genes in iPSCs or cut out a piece of these genes and replace it with another. As model genes, the researchers used JAK2, a gene that when mutated causes a bone marrow disorder known as polycythemia vera; SERPINA1, a gene that when mutated causes alpha1-antitrypsin deficiency, an inherited disorder that may cause lung and liver disease; and AAVS1, a gene that's been recently discovered to be a "safe harbor" in the human genome for inserting foreign genes.

Their comparison found that when simply cutting out portions of genes, the CRISPR system was significantly more efficient than TALEN in all three gene systems, inducing up to 100 times more cuts. However, when using these genome editing tools for replacing portions of the genes, such as the disease-causing mutations in JAK2 and SERPINA1 genes, CRISPR and TALEN showed about the same efficiency in patient-derived iPSCs, the researchers report.

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'CRISPR' science: Newer genome editing tool shows promise in engineering human stem cells

How does CDI's technology work? A human biological sample, for example blood or skin, is obtained, and the cells within the sample are grown under appropriate cell culture conditions. In the episomal reprogramming method, vectors containing multiple reprogramming genes are introduced into the cells.

While the vectors turn genes in the cell on and off, reprogramming them to a stem cell state, they do not integrate into the genome itself. This method alleviates concerns arising over the potential risks associated with the insertion of foreign DNA to induce reprogramming, which other prior iPS methods use (bottom row in illustration above).

iPS cells are somatic cells (e.g., skin or blood) that have been genetically reprogrammed to a pluripotent stem cell state through forced expression of pluripotency genes.By definition, iPS cells replicate indefinitely and have the potential to differentiate into any cell type in the human body.

Reprogramming factors are the genes introduced into somatic cells that induce a pluripotent stem cell state. Initial reports describing the creation of human iPS cells utilized four reprogramming factors: OCT4, SOX2, KLF4 and MYC (OSKM) (Takahashi, et al. 2007) or OCT4, SOX2, NANOG and LIN28 (OSNL) (Yu, et al. 2007). Subsequent studies revealed that reprogramming using a specific combination of all 6 of these factors combined with SV40LT and a cocktail of small molecules yields iPS cells at much higher efficiency (Yu, et al. 2009; Yu, et al. 2011).

iPS cells are genetically reprogrammed through forced expression of pluripotency genes into somatic cells.The expression of these genes can be accomplished using a variety of different methods.The episomal reprogramming method introduces pluripotency genes into a target cell using circular DNA plasmid vectors (i.e. episomes) that replicate autonomously within the cell cytoplasm and do not integrate into the host cell genome.

Initial methods of iPS cell reprogramming utilized retroviral and lentiviral vectors to introduce pluripotency genes into somatic cells. While these methods generally work well, the viral DNA integrates into the genome of the target cell, and the resulting iPS cells (and cells differentiated from them) will contain foreign DNA, which may result in defects and errors. By contrast, episomal vectors replicate autonomously within the cell cytoplasm and do not integrate into the host genome. In addition, the episomal vectors are released from the target cell at a rate of ~5% per cell cycle resulting in transgene-free or footprint-free iPS cells.These features, combined with recent advancements in episomal reprogramming efficiency, have led to a strong preference for this method to alleviate concerns about genome integrity for drug discovery and cell therapy applications.

Episomal reprogramming has been reported successful from a variety of somatic cells, including fibroblasts, lymphoblastoid cells, and peripheral blood mononuclear cells. Importantly, CDI has optimized its episomal reprogramming method to achieve high efficiency iPS cell generation from small amounts of human peripheral blood. Not only does this enable more streamlined and less invasive collection of donor samples, but ensures increased sterility and lower cost production of iPS cells. In addition, efficient iPS cell production from peripheral blood enables access to large banks of normal and disease-associated clinical samples for disease research and drug screening.

CDIs suite of MyCell Products includes episomal reprogramming of customer-provided donor samples and subsequent genetic engineering and/or differentiation of the iPS cells. In addition, for researchers who would like to generate their own iPS cells, CDIs episomal reprogramming technology is available as a kit from Life Technologies, including Episomal iPSC Reprogramming Vectors, Vitronectin, and Essential 8 Medium. Customer-generated iPS cells using this kit may then be transferred to CDI for genetic engineering and/or differentiation through MyCell Products.

Integration-free iPS cells have been generated using a variety of methods including adenovirus, Sendai virus, piggyBac, minicircle vectors, and direct introduction of protein or synthesized mRNA. The efficiency and success rate of these methods varies depending on the source of somatic cells and experimental conditions, but in general these approaches are limited by impractically low reprogramming efficiency, requirement for higher biosafety containment, and/or labor- and cost-intensive protocols that require repeated transfection/infection.Compared to these methods, episomal reprogramming is virus-free, safe to use, stable, and inexpensive.

A variety of small molecules have been identified that can functionally substitute for one or more reprogramming factors and/or improve the efficiency of iPS cell reprogramming. However, no combination of small molecules has been shown to functionally substitute for all four reprogramming factors. The use of small molecules in iPS cell reprogramming offers some practical advantages including the ability to optimize the chemical structure, fine-tune dose and concentration, and simplify handling and application protocols. However, the use of small molecules presents a number of scientific challenges. Most notably, small molecules may have more than one target, which may or may not be known. In addition, unexpected toxicity and other side effects in vivo may interfere with the clinical application of small molecules.

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CDI | iPS Cells - Cellular Dynamics International

CGI Illustration by Peter Crowther Associates c/o Dbut Art

Andrea Accomazzo: Comet chaser | Suzanne Topalian: Cancer combatant | Radhika Nagpal: Robot-maker | Sheik Humarr Khan: Ebola doctor | David Spergel: Cosmic sceptic | Maryam Mirzakhani: Surface explorer | Pete Frates: Ice-bucket challenger | Koppillil Radhakrishnan: Rocket launcher | Masayo Takahashi: Stem-cell tester | Sjors Scheres: Structure solver | Ones to watch

A former test pilot steered the Rosetta mission to an icy world in deep space. By Elizabeth Gibney

Andreas Reeg/Agentur Focus/Eyevine

Nearly two decades ago, Andrea Accomazzo got into trouble with his girlfriend when she found a scrap of paper on his desk. In his handwriting was scrawled a phone number next to a female name: Rosetta.

She thought it was a girl, says Accomazzo. I had to explain to my jealous Italian girlfriend that Rosetta is an interplanetary mission that is flying to a comet in almost 20 years.

Ever since, Accomazzo has divided his attention. He eventually married his girlfriend and has also spent the past 18 years pursuing the comet 67P/ChuryumovGerasimenko. As flight director for the mission, Accomazzo led the team that steered Rosetta to its August rendezvous with the comet, following a 6.4-billion-kilometre journey from Earth. The pinnacle of the project came in November, when Rosetta successfully set down a lander named Philae, providing scientists with the first data from the surface of a comet and making it one of the most successful missions in the history of the European Space Agency (ESA).

Accomazzo did not act alone: it took a large operations team at ESA to manoeuvre Rosetta with enough precision to drop Philae down just 120 metres from the centre of the landing zone. Given that we'd had a 500-metre error circle, that was not a bad shot, says Fred Jansen, who led the mission. When Philae's anchoring systems failed, the craft bounced into a shady site where it could not charge its solar panels, so the lander lost power after 64 hours. But in that time, it gathered a trove of data that will add to the information collected by Rosetta about the comet's structure and composition. Armed with those insights, scientists hope to better understand the origin and evolution of the Solar System, including whether comets could have brought water and organic molecules to Earth during its infancy.

Accomazzo started off his career focused on a different type of flight. He first trained as a test pilot in the Italian Air Force. But although he loved flying, he found the culture too constraining and after two years he quit to study aerospace engineering. With his quiet, hard-working, sometimes no-nonsense nature, colleagues say that Accomazzo brings a bit of the military with him into mission control.

For Accomazzo, the biggest parallel between flying a fighter jet and Rosetta is the need for split-second judgements. You have to prepare and train a lot to be able to make the right decision, very quickly, he says. Between launch and landing, his team ran 87 full-day simulations.

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365 days: Nature's 10

Major study: Professor Thomas Preiss from ANU JCSMR who has been involved in an international project researching stem cells. Photo: Graham Tidy

Scientists, including some from Canberra, have identified a new type of stem cell which is easier to grow and manipulate as part of a major study detailing the changes cells undergo as they reprogram into stem cells.

Experts from across the globe, including some from the Australian National University John Curtin School of Medical Research, have carried out the most detailed study of how specialised body cells can be reprogrammed to be like cells from the early embryo.

"The ultimate goal with this work is to develop therapies in regenerative medicine which is a therapeutic approach whereby you would ultimately replace cells or tissues or organs that are failing in a patient with replacement parts that are made in a laboratory from the patient's own cells or from genetically highly similar stem cells," Professor Thomas Preiss from ANU's JCSMR said.

Professor Preiss said it was hoped the research could help speed up the development of treatments for many illnesses and conditions.

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"There's a range of diseases where tissues are damaged or cells or lost. It ranges from neurodegenerative disease to spinal cord injuries, stroke, diabetes, blood and kidney diseases and ultimately perhaps even heart disease," he said.

"I'm not saying our publication immediately enables any of these therapies but we're working on the molecular basis of understanding the process of making cells that would be useful for this kind of therapy."

Fifty experts in stem cell biology and genomics technologies have been involved in Project Grandiose which mapped the detailed molecular process involved in the generation of induced pluripotent stem (iPS) cells.

Since the 2012 Nobel Prize winning discovery that body cells can in principle be coaxed to become iPS cells, there has been a surge in research to better understand iPS cell reprogramming.

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Researchers identify stem cells that can be reprogrammed

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26-Nov-2014

Contact: Krista Conger kristac@stanford.edu 650-725-5371 Stanford University Medical Center @sumedicine

Induced pluripotent stem cells made from patients with a form of blistering skin disease can be genetically corrected and used to grow back healthy skin cells in laboratory dishes, researchers at the Stanford University School of Medicine have found. They've termed the new technique "therapeutic reprogramming."

The skin cells formed normal human skin when grafted onto the backs of laboratory mice, they said.

The findings represent a major advance in the battle against the disease, epidermolysis bullosa, in which the top layer of skin, called the epidermis, sloughs off with the slightest friction, leaving open wounds that are difficult to heal. Severely stricken children who survive into their late teens or early 20s often die from invasive squamous cell carcinoma, a skin cancer that can arise during repeated cycles of skin wounding and healing.

"Epidermolysis bullosa is a truly horrible, debilitating skin disease in which the top layer of skin is not properly anchored to the underlying layers," said Anthony Oro, MD, PhD, professor of dermatology. "When they are born, the trauma of birth rips away their skin, and they continue to suffer severe skin wounds that require constant bandaging and medical attention throughout their lives."

Stanford has one of the largest epidermolysis bullosa clinics in the world, with an extremely active and engaged population of patients and their families eager to help researchers. The Stanford Department of Dermatology has been working to find new treatments for the disease for over 20 years. The latest advance, in which researchers replaced the mutated, disease-causing gene in the donor-made induced pluripotent stem cells with a healthy version, was funded by an $11.7 million grant from the California Institute for Regenerative Medicine.

New avenue of treatment

"This treatment approach represents an entirely new paradigm for this disease," Oro said. "Normally, treatment has been confined to surgical approaches to repair damaged skin, or medical approaches to prevent and repair damage. But by replacing the faulty gene with a correct version in stem cells, and then converting those corrected stem cells to keratinocytes, we have the possibility of achieving a permanent fix -- replacing damaged areas with healthy, perfectly matched skin grafts."

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Blistering skin disease may be treatable with 'therapeutic reprogramming,' researchers say

New York, New York (PRWEB) November 17, 2014

Beyond Batten Disease Foundation (BBDF) and the New York Stem Cell Foundation (NYSCF) have been selected as a national innovator by the Milken Institute and will present their breakthrough findings about juvenile Batten disease at the 6th annual Partnering for Cures, November 16-18 in New York City. The presentation will highlight the collaborative efforts of NYSCF, BBDF and Batten Disease Support and Research Association.

Craig and Charlotte Benson established Beyond Batten Disease Foundation in August 2008 after their then five-year-old daughter, Christiane, was diagnosed with juvenile Batten disease. Together with hundreds of families affected by Batten disease, and many more supporters who share their hope and resolve, they are working tirelessly to create a brighter future for Christiane, and all children with Batten disease.

Watch the Benson Family story:

The Benson Family Story

Beyond Batten Disease and the New York Stem Cell Foundation hope to ramp up funding and partnerships to develop stem cell resources to investigate and explore new treatments and ultimately find a cure for juvenile Batten disease, a fatal illness-affecting children as they convene at the FasterCures, conference. The Washington, D.C.-based center of the Milken Institute will bring together nearly 1,000 medical research leaders, investors and decision-makers to forge the collaborations needed to speed and improve outcomes-driven R&D. NYSCF scientists have created the first iPS cells from a neurological disease and the first ever stem cell disease model from any disease. This discovery was named Time Magazine #1 breakthrough in 2008 because it was the first time anyone has made stem cells from a person with a disease and used them to produce the type of cell that degenerated in that patient. Again, in 2012 Time Magazine recognized the Beyond Batten Disease Foundations creation of a rate genetic disease test as a top ten medical breakthrough.

We know the genetic mutations associated with juvenile Batten disease. This partnership will result in stem cell models of juvenile Batten, giving researchers an unprecedented look at how the disease develops, speeding research towards a cure, said Susan L. Solomon, NYSCF Chief Executive Officer.

Working with NYSCF to generate functional neuronal subtypes from patients and families is a stellar example of one of our key strategies in the fight against juvenile Batten disease: creating resource technology with the potential to transform juvenile Batten disease research and accelerate our timeline to a cure, said Danielle M. Kerkovich, PhD, BBDF Principal Scientist.

Juvenile Batten disease begins in early childhood between the ages of five and ten. Initial symptoms typically begin with progressive vision loss, followed by personality changes, behavioral problems, and slowed learning. These symptoms are followed by a progressive loss of motor functions, eventually resulting in wheelchair use and premature death. Seizures and psychiatric symptoms can develop at any point in the disease.

Juvenile Batten disease is one disorder in a group of rare, fatal, inherited disorders known as Batten disease. Over 40 different errors (mutations) in the CLN3 segment of DNA (gene) have been attributed to juvenile Batten disease. The pathological hallmark of juvenile Batten is a buildup of lipopigment in the bodys tissues. It is not known why lipopigment accumulates or why brain and eventually, heart cells are selectively damaged. It is, however, clear that we need disease-specific tools that reflect human disease in order to figure this out and to build therapy.

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Beyond Batten Disease Foundation and the New York Stem Cell Foundation Chosen as a National Innovator by the Milken ...