07-05-2012 15:22 High-throughput technology and the data it generates is evolving and advancing basic science into clinical science and personalized medicine. But while currently available methods exist to rapidly and efficiently produce DNA, epigenetic, and RNA whole-genome profiles from individual tissue samples and cell lines, data analysis and deconvolution remain challenging. To address this issue, methods of knowledge-based functional analysis such as ontology enrichment, interactome, and causal networks have been developed. These analyses rely on databases designed to accommodate complex aspects of mammalian functionality, for example, coordinated expression of multiple genes to effect a single function, RNA splice variants, or protein isoforms. Webinar participants will discuss knowledge-based analytical methods, and how they can be used for functional analysis of OMICs datasets by cheminformatics and bioinformatics software tools such as network-generation algorithms, ontology enrichment, interactome calculations, and pathway modeling. The application of these analytical methods to advances in understanding breast tumor heterogeneity and the potential development of a targeted therapy based on this knowledge will also be discussed.

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Advancing Genomics into Personalized Medicine - Video

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Public release date: 7-May-2012 [ | E-mail | Share ]

Contact: Emily Ng eng3@nshs.edu 516-562-2670 North Shore-Long Island Jewish (LIJ) Health System

Antipsychotic medications are increasingly prescribed in the US, but they can cause serious side effects including rapid weight gain, especially in children. In the first study of its kind, researchers at Zucker Hillside Hospital and the Feinstein Institute for Medical Research identified a gene that increases weight gain in those treated with commonly-used antipsychotic drugs. These findings were published in the May issue of Archives of General Psychiatry.

Second-generation antipsychotics (SGAs) were used as the treatment in this study. SGAs are commonly used to treat many psychotic and nonpsychotic disorders. However, it is important to note that these SGAs are associated with substantial weight gain, including the development of obesity and other cardiovascular risk factors. The weight gain side effect of SGAs is significant because it often results in a reduced life expectancy of up to 30 years in those who suffer from chronic and severe mental illnesses. The weight gain also prompts some to stop taking the medication, adversely impacting their quality of life.

In this genome-wide association study (GWAS), researchers first evaluated a group of pediatric patients in the US being treated for the first time with antipsychotics. They then replicated the result in three independent groups of patients who were in psychiatric hospitals in the United States and Germany or participating in European antipsychotic drug trials. The gene that was identified to increase weight gain, MC4R or melanocortin 4 receptor, has been previously identified as being linked to obesity and type 2 diabetes. In the new study, it was found that patients gained up to 20 pounds when on treatment.

"This study offers the prospect of being able to identify individuals who are at greatest risk for severe weight gain following antipsychotic treatment," said Anil Malhotra, MD, investigator at the Zucker Hillside Hospital Department of Psychiatry Research and Feinstein Institute for Medical Research. "We hope that those who are at risk could receive more intensive or alternative treatment that would reduce the potential for weight gain and we are currently conducting studies to identify such treatment."

Additional Details About the Study

Researchers conducted the first GWAS of SGA-induced weight gain in patients carefully monitored for medication adherence who were undergoing initial treatment with SGAs. To confirm results, they next assessed three independent replication cohorts: 1) a cohort of adult subjects undergoing their first treatment with a single SGA (clozapine), 2) a cohort of adult subjects treated with the same SGAs as in our discovery sample, and 3) a cohort of adult subjects in the first episode of schizophrenia and enrolled in a randomized clinical trial of antipsychotic drugs.

The discovery cohort consisted of 139 pediatric patients undergoing first exposure to SGAs. The 3 additional cohorts consisted of 73, 40, and 92 subjects. Patients in the discovery cohort were treated with SGAs for 12 weeks. Additional cohorts were treated for 6 and 12 weeks.

This GWAS yielded 20 single-nucleotide polymorphisms at a single locus exceeding a statistical threshold of P10-5. This locus, near the melanocortin 4 receptor (MC4R) gene, overlaps a region previously identified by large-scale GWAS of obesity in the general population. Effects were recessive, with minor allele homozygotes gaining extreme amounts of weight during the 12-week trial. These results were replicated in 3 additional cohorts, with rs489693 demonstrating consistent recessive effects; meta-analysis revealed a genome-wide significant effect. Moreover, consistent effects on related metabolic indices, including triglyceride, leptin, and insulin levels were observed.

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Researchers discover gene that leads to severe weight gain with antipsychotic treatment

Recommendation and review posted by Bethany Smith

ScienceDaily (May 7, 2012) Antipsychotic medications are increasingly prescribed in the US, but they can cause serious side effects including rapid weight gain, especially in children. In the first study of its kind, researchers at Zucker Hillside Hospital and the Feinstein Institute for Medical Research identified a gene that increases weight gain in those treated with commonly-used antipsychotic drugs.

These findings were published in the May issue of Archives of General Psychiatry.

Second-generation antipsychotics (SGAs) were used as the treatment in this study. SGAs are commonly used to treat many psychotic and nonpsychotic disorders. However, it is important to note that these SGAs are associated with substantial weight gain, including the development of obesity and other cardiovascular risk factors. The weight gain side effect of SGAs is significant because it often results in a reduced life expectancy of up to 30 years in those who suffer from chronic and severe mental illnesses. The weight gain also prompts some to stop taking the medication, adversely impacting their quality of life.

In this genome-wide association study (GWAS), researchers first evaluated a group of pediatric patients in the US being treated for the first time with antipsychotics. They then replicated the result in three independent groups of patients who were in psychiatric hospitals in the United States and Germany or participating in European antipsychotic drug trials. The gene that was identified to increase weight gain, MC4R or melanocortin 4 receptor, has been previously identified as being linked to obesity and type 2 diabetes. In the new study, it was found that patients gained up to 20 pounds when on treatment.

"This study offers the prospect of being able to identify individuals who are at greatest risk for severe weight gain following antipsychotic treatment," said Anil Malhotra, MD, investigator at the Zucker Hillside Hospital Department of Psychiatry Research and Feinstein Institute for Medical Research. "We hope that those who are at risk could receive more intensive or alternative treatment that would reduce the potential for weight gain and we are currently conducting studies to identify such treatment."

Additional Details About the Study

Researchers conducted the first GWAS of SGA-induced weight gain in patients carefully monitored for medication adherence who were undergoing initial treatment with SGAs. To confirm results, they next assessed three independent replication cohorts: 1) a cohort of adult subjects undergoing their first treatment with a single SGA (clozapine), 2) a cohort of adult subjects treated with the same SGAs as in our discovery sample, and 3) a cohort of adult subjects in the first episode of schizophrenia and enrolled in a randomized clinical trial of antipsychotic drugs. The discovery cohort consisted of 139 pediatric patients undergoing first exposure to SGAs. The 3 additional cohorts consisted of 73, 40, and 92 subjects. Patients in the discovery cohort were treated with SGAs for 12 weeks. Additional cohorts were treated for 6 and 12 weeks.

This GWAS yielded 20 single-nucleotide polymorphisms at a single locus exceeding a statistical threshold of P10-5. This locus, near the melanocortin 4 receptor (MC4R) gene, overlaps a region previously identified by large-scale GWAS of obesity in the general population. Effects were recessive, with minor allele homozygotes gaining extreme amounts of weight during the 12-week trial. These results were replicated in 3 additional cohorts, with rs489693 demonstrating consistent recessive effects; meta-analysis revealed a genome-wide significant effect. Moreover, consistent effects on related metabolic indices, including triglyceride, leptin, and insulin levels were observed.

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Gene that leads to severe weight gain with antipsychotic treatment discovered

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$19 million collaboration fuelling groundbreaking discoveries

TORONTO, May 7, 2012 /CNW/ - Lawrence Tanenbaum, O.C., along with his wife Judy Tanenbaum, today joined the Honourable Brad Duguid Minister of Economic Development and Innovation, renowned researcher Dr. Jim Kennedy and Dr. Catherine Zahn, President and CEO, CAMH, to announce a $19 million collaboration and open the Tanenbaum Centre for Pharmacogenetics at the Centre for Addiction and Mental Health (CAMH).

This centre, a collaboration between Larry Tanenbaum, the Ontario Government and CAMH, has been established to support the groundbreaking research in the DNA laboratory of Dr. Kennedy and the clinic of Dr. Daniel Mueller to accelerate the time it takes to get genetic information to physicians and patients across Ontario. The Centre will be part of the Campbell Family Mental Health Research Institute at CAMH's College Street location.

"Pharmacogenetics" is an aspect of personalized medicine research that aims to help doctors understand in advance which individuals carry a genetic risk for serious side-effects from specific drugs. Genetic testing will also be helpful in determining who is more likely to respond to a given medication and if dose adjustments need to be considered. Similar work is being done in cancer and pain management, but CAMH is one of the world leaders in psychiatric applications of this research.

"Mistakes in drug treatment can result in devastating, even tragic side-effects. Still, inaccurate predictions of treatment for depression happen in about 30 per cent of cases and 11 per cent of all mental health patients are at serious genetic risk of suffering from inappropriate dosages of medication. The size of the problem is staggering, but the research in gene science that Dr. Kennedy and his team are doing can - and will - change that," said Mr. Tanenbaum, Chairman and CEO of the Kilmer Group, Chair of the Board, Maple Leaf Sports and Entertainment, and Governor of the NHL, NBA and Major League Soccer.

"We are honoured to be part of this collaboration because it holds the promise that one day soon drugs will be adapted to each person's genetic make-up. The faster these discoveries can get out of the lab, the sooner more effective and safe therapies will become available - changing and saving lives."

"Ontario's ongoing commitment to world-class research is one reason the province is home to more than 500 top neuroscientists," said Minister of Economic Development and Innovation Brad Duguid. "Our support of the new Tanenbaum Centre for Pharmacogenetics promises to improve medical care and quality of life for psychiatric patients and their families, save our health care system millions of dollars, while creating good jobs."

Most recently, Dr. Kennedy's lab has identified a new genetic risk factor for serious weight gain, a side-effect for 40 per cent of schizophrenia patients who receive a commonly used group of anti-psychotic drugs. Understanding in advance which individuals carry this genetic risk would help doctors know when to prescribe different drugs.

Along with establishing the Centre, the investment will move this and other genetic tests into medical practice through "lab-on-a-chip" technology currently in development. Clinical delivery of these tests is already available for CAMH patients, and extension to GTA-area physicians is expected to begin in 2014. Furthermore, the biotechnology development initiative within this program will create an increasing number of knowledge-based jobs in Ontario as the core genetics research expands.

For Dr. Kennedy, this investment sets in motion the potential to revolutionize psychiatry by scaling up testing and fueling the drive to find new genetic tests: "If we could prevent serious side effects such as movement disorders, sleep disturbance and increased risk of cardiovascular disease, I truly believe more people in need would stay on their medication and derive the long-term benefits of better mental health, living longer more productive and fuller lives with their families."

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New Tanenbaum Centre for Pharmacogenetics to accelerate gene-based personalized medicine in psychiatry

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Bangalore, May 8 : In technologically advanced world, there are numerous research and developments that take place to improve not only the standard of living but also to give a normal living.

One such development in the health field is the gene technology. With the advancement of this therapy, a patient is treated by its own cells, DNA, skin graft to cure the problem of the person.

Addressing a press conference here, Dr Sunita Agarwal, Medical Director, Gene Research Foundation, presented a case of city boy Naren (name changed) who was born dumb, deaf and blind from childhood due to genetic disorder.

Naren was diagnosed with the Usher's syndrome, a cognital error where he had no vision and was hearing and speech impaired. He underwent a surgery, Autologous Retinal Transplant, based on the concept of gene therapy.

The BCA graduate, however, after the therapy of three long years, has managed to get back his vision. "Since its a genetic disorder, the vision is never going to be normal like we all possess but through this therapy, we are atempting to give him a better clear vision if not in its entirety," said Dr Agarwal said.

The gene therapy is claimed to be one of its kind and it is said to be a breakthrough solution for the future of the medicinal world.

"Through this technology, diseases like blindness, diabetes, cancer, arthritis can be appreciably better within ten days of injection course," she added. (UNI)

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Gene technology: A new breakthrough research

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The Californian Right to Know campaign in support of labeling foods and ingredients produced using genetic engineering looks set for inclusion in the states November ballot, after it attracted nearly a million signatures. If enacted, what would the proposed law mean for food manufacturers?

The state has up to seven weeks to validate the 971,126 signatures. If they are validated, and voters approve the measure in November, food manufacturers could be required to label genetically modified (GM) foods and ingredients sold in California from July 1, 2014.

The California Right to Know Genetically Engineered Food Act would require such foods to be labeled in a clear and conspicuous manner, whether raw agricultural commodities or processed foods.

The bill reads that a food would deemed to be misbranded unless labeled: In the case of any processed food, in clear and conspicuous language on the front or back of the package of such food, with the words Partially Produced with Genetic Engineering or May be Partially Produced with Genetic Engineering

GMOs deemed unnatural

In addition, food labeled as natural would be deemed misbranded under the legislation if it contained genetically modified ingredients, in line with the precept of a swathe of lawsuits that have been brought against food companies in California. Currently the US Food and Drug Administration has no definition of the word natural.

The proposed legislation contains a number of exceptions, including allowances for unintentional presence of GM ingredients, and meat or milk from animals that may have eaten feed produced using genetic engineering. These would be exempt from labeling under the proposal, as is the case in European law.

Until July 2019, food products would also be exempt from labeling if a GM ingredient accounts for less than 0.5% of the foods total weight, and foods could contain up to ten such ingredients.

Industry opposition

Several major industry organizations and trade groups have set up a campaign opposing the proposition, including the California Retailers Association, Grocery Manufacturers Association, American Beverage Association, and California League of Food Processors, among others . Calling the coalition Californians Against the Costly Food Labeling Proposition, they claim that labeling GM foods and ingredients could increase food prices and mislead consumers into thinking their foods are unsafe.

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Californian GMO labeling: What would it mean for food companies?

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07-05-2012 12:34 Autism, just like any chronic health condition, is the result of genetic predispositions interacting with modifiable environmental factors. The key is to identify the contributing factors in each case. Some of the common factors include nutrient insufficiencies, toxin exposure, food allergies, intestinal yeast overgrowth, infections, and more. New functional medicine laboratory tests help to tailor the treatment in each case of autistic spectrum disorder. Personalized treatment based on this type of evaluation helps many patients with autism improve to varying degrees, sometimes a great deal. By Dr. Joseph Debé, Board Certified Nutritionist • • (516) 829-1515 Register for upcoming webinars at

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Autism - A Functional Medicine Approach to Treatment- a webinar presented on 12-15-2010 - Video

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ScienceDaily (May 7, 2012) The cells that slough off from a cancerous tumor into the bloodstream are a genetically diverse bunch, Stanford University School of Medicine researchers have found. Some have genes turned on that give them the potential to lodge themselves in new places, helping a cancer spread between organs. Others have completely different patterns of gene expression and might be more benign, or less likely to survive in a new tissue. Some cells may even express genes that could predict their response to a specific therapy. Even within one patient, the tumor cells that make it into circulating blood vary drastically.

The finding underscores how multiple types of treatment may be required to cure what appears outwardly as a single type of cancer, the researchers say. And it hints that the current cell-line models of human cancers, which showed patterns that differed from the tumor cells shed from human patients, need to be improved upon.

The new study, published May 7 in PLoS ONE, is the first to look at so-called circulating tumor cells one by one, rather than taking the average of many of the cells. And it's the first to show the extent of the genetic differences between such cells.

"Within a single blood draw from a single patient, we're seeing heterogeneous populations of circulating tumor cells," said senior study author Stefanie Jeffrey, MD, professor of surgery and chief of surgical oncology research.

For over a century, scientists have known that circulating tumor cells, or CTCs, are shed from tumors and move through the bloodstreams of cancer patients. And over the past five years, there's been a growing sense among many cancer researchers that these cells -- accessible by a quick blood draw -- could be the key to tracking tumors non-invasively. But separating CTCs from blood cells is hard; there can be as few as one or two CTCs in every milliliter of a person's blood, mixed among billions of other blood cells.

To make their latest discovery, Jeffrey, along with an interdisciplinary team of engineers, quantitative biologists, genome scientists and clinicians, relied on a technology they developed in 2008. Called the MagSweeper, it's a device that lets them isolate live CTCs with very high purity from patient blood samples, based on the presence of a particular protein -- EpCAM -- that's on the surface of cancer cells but not healthy blood cells.

With the goal of studying CTCs from breast cancer patients, the team first tested whether they could accurately detect the expression levels of 95 different genes in single cells from seven different cell-line models of breast cancer -- a proof of principle since they already knew the genetics of these tumors. These included four cell lines generally used by breast cancer researchers and pharmaceutical scientists worldwide and three cell lines specially generated from patients' primary tumors.

"Most researchers look at just a few genes or proteins at a time in CTCs, usually by adding fluorescent antibodies to their samples consisting of many cells," said Jeffrey. "We wanted to measure the expression of 95 genes at once and didn't want to pool our cells together, so that we could detect differences between individual tumor cells."

So once Jeffrey and her collaborators isolated CTCs using the MagSweeper, they turned to a different kind of technology: real-time PCR microfluidic chips, invented by a Stanford collaborator, Stephen Quake, PhD, professor of bioengineering. They purified genetic material from each CTC and used the high-throughput technology to measure the levels of all 95 genes at once. The results on the cell-line-derived cells were a success; the genes in the CTCs reflected the known properties of the cell-line models. So the team moved on to testing the 95 genes in CTCs from 50 human breast cancer patients -- 30 with cancer that had spread to other organs, 20 with only primary breast tumors.

"In the patients, we ended up with a subset of 31 genes that were most dominantly expressed," said Jeffrey. "And by looking at levels of those genes, we could see at least two distinct groups of circulating tumors cells." Depending on which genes they used to divide the CTCs into groups, there were as many as five groups, she said, each with different combinations of genes turned on and off. And if they'd chosen genes other than the 95 they'd picked, they likely would have seen different patterns of grouping. However, because the same individual CTCs tended to group together in multiple different analyses, these cells likely represent different types of spreading cancer cells.

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Not all tumor cells are equal: Huge genetic diversity found in cells shed by tumors

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Michael Pacanowski, PharmD, MPH; Shashi Amur, PhD; Issam Zineh, PharmD, MPH Author Affiliations: Genomics Group, Office of Clinical Pharmacology, Office of Translational Sciences, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, Maryland.

Treatment of chronic hepatitis C (CHC) is a prototype for personalized medicine. Combination therapy with peginterferon alfa plus ribavirin was the standard of care for more than a decade. Greater understanding of the disease and determinants of treatment response have improved sustained virologic response (SVR) rates from less than 10% with interferon alfa in the 1990s to more than 80% with contemporary triple therapy regimens that include direct acting antivirals (DAAs) (Figure). Patient-specific factors such as viral genotype and early on-treatment responses are considered in therapeutic individualization. New approaches to search the human genome for predictors of drug response led to the discovery that single-nucleotide polymorphisms (SNPs) near the host IL28B gene are among the strongest predictors of response to peginterferon alfa and ribavirin. This Viewpoint discusses the evolution of CHC pharmacogenetics, its real-time incorporation into recent regulatory science evaluations, and its application in future drug development.

cDNA indicates complementary

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New Genetic Discoveries and Treatment for Hepatitis C [Viewpoint]

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Dell:

WHAT The team of parents, genetic and translational medicine scientists and pediatric oncologists trailblazing personalized medicine in the treatment of deadly pediatric cancers is convening in Austin to discuss the status of the worlds first personalized medicine clinical trial for pediatric cancer and plan next steps at the NMTRC Symposium 2012. Neuroblastoma affects 1 in 100,000 children and is responsible for 1 in 7 pediatric cancer deaths.

WHO Parents, advocates, oncologists from the Neuroblastoma and Medulloblastoma Translational Research Consortium (NMTRC) and biomedical researchers from the Translational Genomics Research Institute (TGen), who are using high performance computing and cloud technology from Dell to identify targeted treatments based on the specific genetic vulnerabilities of each childs tumoran approach that could be used to treat all pediatric and adult cancers in the future.

WHY Personalized medicinetreatment based on the specific vulnerabilities of each tumor is overcoming longstanding barriers to treatment of pediatric cancer. There has been only one new treatment for pediatric cancer approved by the FDA since the 1980s, compared to 50 treatments approved for adult cancer in this same timeframe. As a result, pediatric oncologists use treatments designed for adults to treat children, with toxic side effects that are frequently as physically detrimental to the child as the cancer itself.

WHEN The following events will be available via live-stream: May 16 1-2 pm CT: Keynote: Molecular-Profiling for Optimized Precision Therapy, Dr. Timothy Triche, University of Southern California/ Childrens Hospital Los Angeles

2-4 pm CT: Panel Discussion: Kids Cloud: Access to Data Boundaries Dr. Melinda Merchant - National Cancer Institute Dr. Gary Marchant - Arizona State University Nancy Goodman - Kids V. Cancer Foundation Patrick Lacey - Friends of Will Foundation Andy Mikulak - Maxs Ring of Fire Foundation Dr. Giselle Sholler - Van Andel Institute Dr. Spyro Mousses - Translational Genomics Research Institute Dr. James Coffin - Dell

WHERE Participate and join the conversation via the #HealthCloud hashtag on Twitter. Tune in via Live-Stream here: http://www.fittotweet.com/live/nmtrc/.

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Innovators in Pediatric Cancer to Share Progress on Ground-Breaking Personalized Medicine Clinical Trial

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Public release date: 7-May-2012 [ | E-mail | Share ]

Contact: David Sampson ajpmedia@elsevier.com 215-239-3171 Elsevier Health Sciences

Philadelphia, PA, May 7, 2012 While active monitoring of serum prostate specific antigen (PSA) levels in men over 50 has greatly improved early detection of prostate cancer, prediction of clinical outcomes after diagnosis remains a major challenge. Researchers from the University of Pittsburgh School of Medicine have found that a genetic abnormality known as copy number variation (CNV) in prostate cancer tumors, as well as in the benign prostate tissues adjacent to the tumor and in the blood of patients with prostate cancer, can predict whether a patient will experience a relapse, and the nature of the relapse aggressive or indolent. Their report is published in the June issue of The American Journal of Pathology.

Copy number variations are large areas of the genome with either duplicated or missing sections of DNA. "Our analysis indicates that CNV occurred in both cancer and non-cancer tissues, and CNV of these tissues predicts prostate cancer progression," says lead investigator Jian-Hua Luo, MD, PhD, associate professor in the Divisions of Molecular and Cellular Pathology, and Anatomic Molecular Pathology, Department of Pathology, University of Pittsburgh School of Medicine. "Prediction models of prostate cancer relapse, or of the rate of PSA level increase after surgery, were generated from specific CNV patterns in tumor or benign prostate tissues adjacent to cancer samples."

To detect the abnormalities, scientists conducted a comprehensive genome analysis on 238 samples obtained from men undergoing radical prostatectomy: 104 prostate tumor samples, 85 blood samples from patients with prostate cancer, and 49 samples of benign prostate tissues adjacent to a tumor. A third of the samples were from patients exhibiting recurrence with a PSA level increasing at a rapid rate, doubling in less than four months (rapid increases are associated with lethal prostate cancer); a third from patients exhibiting recurrence with a PSA level increasing at a slow rate, doubling time greater than 15 months; and a third with no relapse more than five years after surgery. Three commercially available prostate cancer cell lines were also tested to validate the results.

Deletions of large segments of specific chromosomes occurred with high frequency, whereas amplification of other chromosomes occurred in only a subset of prostate cancer samples. Similar amplification and deletion of the same regions also occurred in benign prostate tissue samples adjacent to the cancer. Prostate cancer patients' blood was found to contain significant CNVs. Most were not unique and overlapped with those of prostate cancer samples.

Using gene-specific CNV from tumor, the model correctly predicted 73% of cases for relapse and 75% of cases for short PSA doubling time. The CNV model from tissue adjacent to the prostate tumor correctly predicted 67% of cases for relapse and 77% of cases for short PSA doubling time. Using median-size CNV from blood, the genome model correctly predicted 81% of the cases for relapse and 69% of the cases for short PSA doubling time.

Dr. Luo notes that there are several potential clinical applications using CNV tests. "For a patient diagnosed with prostate cancer, CNV analysis done on blood or normal tissues would eliminate the need for additional invasive procedures to decide a treatment mode. For a patient already having a radical prostatectomy, CNV analysis on the tumor or blood sample may help to decide whether additional treatment is warranted to prevent relapse. Despite some limitations, including the need for high quality genome DNA, CNV analysis on the genome of blood, normal prostate, or tumor tissues holds promise to become a more efficient and accurate way to predict the behavior of prostate cancer."

###

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Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer

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07-05-2012 15:43 Jonathan Kahn, Professor at Hamline University School of Law, frames how the relationship between genetics and society should be understood in an opening plenary at the 2010 Tarrytown Meeting. The Tarrytown Meetings bring together people working to ensure that human biotechnologies and related emerging technologies support rather than undermine social justice, equality, human rights, ecological integrity and the common good. Find out more about the Tarrytown Meetings here: To find more videos, check out the Tarrytown Youtube channel:

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Jonathan Kahn: Setting the Stage for Understanding Genetic Technologies- Tarrytown 2010 - Video

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CAMBRIDGE, Mass. & BOTHELL, Wash.--(BUSINESS WIRE)--

Millennium: The Takeda Oncology Company, a wholly owned subsidiary of Takeda Pharmaceutical Company Limited (TSE:4502) and Seattle Genetics, Inc. (Nasdaq: SGEN - News), today announced the initiation of an international pivotal phase 3 clinical trial evaluating ADCETRIS (brentuximab vedotin) in patients with CD30-expressing cutaneous T-cell lymphoma (CTCL) who received at least one prior systemic therapy. The global multi-center study with ADCETRIS, an antibody-drug conjugate (ADC) directed to CD30, will be conducted in the United States, Europe, Australia and Brazil. The trial is being conducted under a Special Protocol Assessment (SPA) agreement from the U.S. Food and Drug Administration (FDA) regarding the trial design. The study also received European Medicines Agency (EMA) scientific advice.

Millennium is pleased to announce the initiation of the pivotal trial of ADCETRIS in patients with relapsed CD30-expressing CTCL. We recognize this as a significant milestone in our efforts to explore the potential of this targeted therapy in other indications, said Karen Ferrante, MD, Chief Medical Officer, Millennium. Looking forward, this study may support the potential to supplement therapeutic options for patients, from traditional systemic chemotherapy to ADCETRIS, a targeted therapy.

Data from patients with cutaneous lesions observed in our pivotal trial in systemic anaplastic large cell lymphoma (sALCL) and interim data from investigator-sponsored trials in CTCL with ADCETRIS provide a strong rationale for initiating this phase 3 trial, said Thomas C. Reynolds, M.D., Ph.D., Chief Medical Officer, Seattle Genetics. CTCL is an important part of our development plan to broadly evaluate ADCETRIS in CD30-expressing malignancies. This trial complements many other ongoing and planned trials for patients in need, including two additional phase 3 trials for front-line Hodgkin lymphoma (HL) and front-line mature T-cell lymphomas expected to start by late 2012 or early 2013.

CD30 is a member of the tumor necrosis factor receptor (TNFR) family and is a characteristic cell surface receptor for activated T-cells and B-cells, including the malignant cells of HL and sALCL. According to published literature, up to 50 percent of CTCL patients lesions express CD30(1-3). Under a previously announced collaboration agreement with Ventana Medical Systems, Inc. (Ventana), Millennium and Seattle Genetics, Ventana is developing a molecular companion diagnostic test for use in this CTCL patient population.

Study design

The study is a randomized, open-label, phase 3 trial of ADCETRIS versus investigators choice of methotrexate or bexarotene in patients with CD30-positive CTCL, including those with primary cutaneous anaplastic large cell lymphoma (pcALCL) or mycosis fungoides (MF). The primary endpoint of the study is overall response rate (ORR), lasting at least 4 months, with ADCETRIS in patients with CD30-positive MF or pcALCL compared to that achieved with therapy in the control arm. The key secondary endpoints are complete response (CR), progression-free survival (PFS), and burden of symptoms. Approximately 124 patients will be enrolled in the pivotal trial.

For more information about the trial, please visit http://www.clinicaltrials.gov.

About ADCETRIS

ADCETRIS (brentuximab vedotin) is an ADC comprising an anti-CD30 monoclonal antibody attached by a protease-cleavable linker to a microtubule disrupting agent, monomethyl auristatin E (MMAE), utilizing Seattle Genetics proprietary technology. The ADC employs a linker system that is designed to be stable in the bloodstream but to release MMAE upon internalization into CD30-expressing tumor cells.

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Millennium and Seattle Genetics Initiate Global Phase 3 Trial of ADCETRIS™ in Patients with CD30-Expressing Relapsed ...

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BOTHELL, Wash.--(BUSINESS WIRE)--

Seattle Genetics, Inc. (Nasdaq:SGEN - News) today reported financial results for the first quarter ended March 31, 2012. The company also highlighted the ADCETRIS (brentuximab vedotin) product launch, ongoing and planned clinical development activities and upcoming milestones.

First quarter 2012 ADCETRIS net product sales were $34.5 million, an increase of 4 percent from $33.2 million in the fourth quarter of 2011. ADCETRIS gross product sales increased by 12 percent in the first quarter of 2012 compared to the fourth quarter of 2011, but this increase was offset by an expected increase in gross-to-net discount in the first quarter of 2012 driven by Public Health Services program discounts that became effective during January.

The commercialization of ADCETRIS continues to be strong, and we are pleased by the acceptance and utilization of ADCETRIS among oncologists and patients with relapsed Hodgkin lymphoma (HL) and systemic anaplastic large cell lymphoma (sALCL), said Clay B. Siegall, Ph.D., President and Chief Executive Officer of Seattle Genetics. Our long-term vision for ADCETRIS is to expand its use into earlier lines of HL and sALCL therapy and into other CD30-positive malignancies. To that end, we are conducting a robust clinical development program with ADCETRIS, including clinical studies to broadly assess CD30 expression in both hematologic malignancies and solid tumors, as well as to evaluate activity and tolerability of ADCETRIS in these patient populations. Initial data from these clinical studies will be presented at the upcoming American Society of Clinical Oncology (ASCO) annual meeting and we have multiple late-stage trials that are already underway or are about to begin to further evaluate the broad potential of ADCETRIS. In addition, we and our collaborators are advancing a robust pipeline of clinical and preclinical ADC programs for a variety of cancers.

Recent ADCETRIS Highlights

Other Recent Highlights

Upcoming Milestones

The company is on track to achieve multiple near-term milestones for ADCETRIS and other pipeline programs, including:

First Quarter 2012 Financial Results

Revenues in the first quarter of 2012 were $48.2 million, compared to $12.2 million in the first quarter of 2011. First quarter 2012 revenues include ADCETRIS net product sales of $34.5 million. In addition, first quarter 2012 revenues reflect amounts earned under the companys ADCETRIS and ADC collaborations.

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Seattle Genetics Reports First Quarter 2012 Financial Results

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07-05-2012 14:33 Project

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Nethania Gene therapy - Video

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Todays post is a repost from October 2010. Ive got some major stuff cooking in the lab right now and I need all of my brain power for it. Enjoy the repost and I shall return!

Reader David sent me this paper the other day, and asked if I could blog about it. I said ok, maybe, and then I read

Gene therapy

oooooh

Sounds very cool, doesnt it? Sounds like the FUTURE! Wheres my JETPACK!!!?!?!

But of course gene therapy is kind of a buzzword. A lot of people throw it around, but it seems like a lot of people dont know what it really MEANS, and what it can be used for.

But it turns out, it can be used for quite a lot! And it may not be quite so far in the future. After all, theyre marketing jetpacks.

Alexander et al. Reversal of Depressed Behaviors in Mice by p11 Gene Therapy in the Nucleus Accumbens Science Translational Medicine, 2010.

So lets start with gene therapy and what it is, and then well go into why they used it in this particular paper. Gene therapy is based on the idea of inserting a gene into someones genome, either in the whole body or in specific parts, to change the gene expression of that cell or group of cells, and to use this technology to treat disease. In this case, what were talking about is viral-mediated gene expression. This is where we use a virus (for our own nefarious purposes mwah-ha-ha-ha!!), take out the nasty bits of the viral DNA, and load the virus with the gene you want to express. You then inject the virus into your area of interest (normally this is really site specific), and the virus, using its own virusy ways, will insert your gene of interest into your area of interest. The gene will get incorporated into the genome, and get expressed by your cells!

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Repost: Depressed mice, gene therapy, and p11

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After half a year of blood transfusions to treat life-threatening anemia, 9-year-old Ricky Martinez was running out of time.

The Murrieta boy needed a bone marrow transplant to save his life. Although his parents had held numerous drives seeking a match for their son, the perfect donor eluded them.

Then another option appeared ---- doctors found Ricky's own blood from his umbilical cord, banked at birth, and stored in a medical facility.

"I had donated it at birth, when I delivered," said Ricky's mother, Cynthia Martinez. "I had no idea that I'd be using it for him nine years later."

The cord blood discovery represents a "godsend" for the family, Martinez said, because Ricky's body began rejecting the transfusions that keep him alive.

Cord blood contains stem cells ---- undifferentiated cells that can spur production of healthy tissue to help treat various diseases. Doctors believe it could jump-start Ricky's bone marrow, allowing his body to resume normal blood production.

But it's not a guarantee.

Ricky's condition, aplastic anemia, is an extremely rare disease, and cord blood transplantation is an experimental procedure for the condition, said David Buchbinder, a hematologist and transplant physician who is treating Ricky at Children's Hospital Orange County, in the city of Orange.

Although the procedure offers few risks of complications, it also pushes the boundaries of medical practice, placing Ricky in a realm of mixed medical opinions and uncertain results, Buchbinder said.

His parents say they're willing to go there to save their son's life.

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REGION: Surprise cord-blood find is 'godsend' for ailing boy

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STATE COLLEGE, Pa. (AP) Penn State alumni elected three new members to the university board of trustees, including a well-known former football player who recovered from a spinal cord injury and a businessman who has criticized the board's actions after Jerry Sandusky's arrest in a child sex-abuse scandal.

Alumni elected lawyer Adam Taliaferro, who played for the late coach Joe Paterno; prominent donor and outspoken board critic Anthony Lubrano; and retired U.S. Navy captain Ryan McCombie.

Election results were announced Friday following more than three weeks of online voting that drew a record turnout of at least 37,000. The new trustees begin their three-year terms July 1.

All three newcomers have expressed varying degrees of criticism of the board, but no one more so than Lubrano, who has been especially critical of the board's ouster of Paterno days after Sandusky was charged in November. Alumni sent a message that they were dissatisfied with the board's decisions, Lubrano said following the trustees meeting during which election results were announced.

But Lubrano added in a statement, ''Though I have been an outspoken critic of the manner in which (the board) handled the firing of Coach Paterno and the events that followed, I understand the importance to all of us to heal as a Penn State community.''

Current members have already started reaching out to alumni watchdog groups that called for change, board chairwoman Karen Peetz said. She did not anticipate problems working with the new trustees.

''I think the board is always open to discussing what the issues are, whether it's incoming members or people who are already on the board,'' she said after being asked if the election sent a message to trustees.

Taliaferro, who practices law in Cherry Hill, N.J., led the election with 15,629 votes, followed by Lubrano, a financial services executive from Exton, with 10,096 and McCombie, a 1970 graduate who lives in State College, with 4,806.

Taliaferro, a 2005 graduate, is a former defensive back for Paterno who became well known for his courageous recovery from a career-ending spinal-cord injury suffered his freshman year in 2000 during a game at Ohio State. He also won election last year as a freeholder in Gloucester County, N.J.

''At the end of the day, we're going to have to work together to come up with solutions to problems going forward,'' Taliaferro said in a phone interview. McCombie was attending a commissioning ceremony on campus and did not attend the meeting.

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New PSU trustees elected in Sandusky aftermath

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Kristin Taylor truly believes everyone has the power to change the world for the better, and she hopes to convince hundreds of Puebloans to do it the same way she did.

Taylor, 36, didn't hesitate 13 months ago when she got a call asking her to donate bone marrow for a complete stranger somewhere in the United States.

The woman was 58 and dying of leukemia. Taylor's own mom was 58 at the time, too.

"I knew I sure wasn't ready to say goodbye to my mom. I didn't hesitate to say yes," Taylor said. The mental connection involving her mom created an emotional connection with the stranger who needed her marrow, she said.

Taylor still hasn't met the woman who received her bone marrow in September, but she gets regular updates on the woman's condition from the National Marrow Donor Program, the parent organization of the Colorado Marrow Donor Program.

"She's alive, and she's doing well. After a year, the anonymity requirement will be dropped if we both agree," Taylor said.

While she awaits another call, Taylor hopes to convince other Puebloans to add their names to the national registry, which is sorely lacking volunteer donors of Hispanic heritage and other ethnic minority groups.

To that end, Taylor has organized a bone marrow donor drive for 9 a.m. to 1 p.m. Saturday at the Robert Hoag Rawlings Public Library, 100 E. Abriendo Ave. The event is co-sponsored by Bonfils Blood Center as part of Be the Match, a national campaign to broaden the donor registry.

"Pueblo's a melting pot of ethnicities, and this city could make a humongous difference in the registry," Taylor said, adding, "They are desperately seeking people of different ethnic backgrounds to help those with leukemia, aplastic anemia, Hodgkin lymphoma, immune deficiency disorders and some types of breast and ovarian cancers."

Taylor said her donation process involved having a complete physical and chest X-rays at St. Mary-Corwin Medical Center's Roger Dorcy Cancer Center before being injected with a drug that spurs rapid development of stem cells in the blood.

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Woman donated bone marrow, hopes others will do the same

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ScienceDaily (May 3, 2012) Researchers have rejuvenated aged hematopoietic stem cells to be functionally younger, offering intriguing clues into how medicine might one day fend off some ailments of old age.

Scientists at Cincinnati Children's Hospital Medical Center and the Ulm University Medicine in Germany report their findings online May 3 in the journal Cell Stem Cell. The paper brings new perspective to what has been a life science controversy -- countering what used to be broad consensus that the aging of hematopoietic stem cells (HSCs) was locked in by nature and not reversible by therapeutic intervention.

HSCs are stem cells that originate in the bone marrow and generate all of the body's red and white blood cells and platelets. They are an essential support mechanism of blood cells and the immune system. As humans and other species age, HSCs become more numerous but less effective at regenerating blood cells and immune cells. This makes older people more susceptible to infections and disease, including leukemia.

Researchers in the current study determined a protein that regulates cell signaling -- Cdc42 -- also controls a molecular process that causes HSCs from mice to age. Pharmacologic inhibition of Cdc42 reversed HSC aging and restored function similar to that of younger stem cells, explained Hartmut Geiger, PhD, the study's principal investigator and a researcher in the Division of Experimental Hematology/Cancer Biology at Cincinnati Children's, and the Department of Dermatology and Allergic Diseases, Ulm University Medicine.

"Aging is interesting, in part because we still don't understand how we age," Geiger said. "Our findings suggest a novel and important role for Cdc42 and identify its activity as a target for ameliorating natural HSC aging. We know the aging of HSCs reduces in part the response of the immune system response in older people, which contributes to diseases such as anemia, and may be the cause of tissue attrition in certain systems of the body."

The findings are early and involve laboratory manipulation of mouse cells, so it remains to be seen what direct application they may have for humans. Still, the study expands what is known about the basic molecular and cellular mechanisms of aging -- a necessary step to one day designing rational approaches to aiding a healthy aging process.

One reason the research team focused on Cdc42 is that previous studies have reported elevated activity of the protein in various tissue types of older mice -- which have a natural life span of around two years. Also, elevated expression of Cdc42 has been found in immune system white blood cells in older humans.

In the current study, researchers found elevated activity of Cdc42 in the HSCs of older mice. They also were able to induce premature aging of HSCs in mice by genetically increasing Cdc42 activity in the cells. The aged cells lost structural organization and polarity, resulting in improper placement and spacing of components inside the cells. This disorganization contributed to the cells' decreased functional efficiency.

The researchers then analyzed HSCs from older mice to see if inhibition of Cdc42 would reverse the aging process. They used a specific dose (5uM) of a pharmacologic inhibitor of Cdc42, CASIN, to reduce the protein's activity in the cells -- processing them for 16 hours ex vivo in laboratory cultures. This improved structural organization, increased polarity and restored functionality in the older cells to levels found in young cells.

To test the rejuvenated cells, the researchers used a process known as serial competitive transplantation. This included extracting HSCs from young (2-4 months) and aged (20-26 months) mice and processing them in laboratory cultures. Young and rejuvenated cells were then engrafted into recipient mice. This allowed scientists to compare how well young and rejuvenated aged HSCs started to repopulate and transform into different types of blood cells. It also confirmed that HSCs rejuvenated by targeting Cdc42 do function similarly to young stem cells.

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Aged hematopoietic stem cells rejuvenated to be functionally younger

Recommendation and review posted by Bethany Smith

May 4, 2012 9:27am

ABC News Paula Faris reports:

It is a medical claim that sounds like science fiction. Walk into a plastic surgeons office for a face-lift and walk out roughly four hours later with a whole-body makeover that required no incision and leaves you with no scars.

But some doctors say that fiction is now reality in the form of a stem-cell makeover, a procedure that uses the fat and stem cells from one part of the body to revamp another part of the body, all in a single office visit.

Such a claim convinced Debra Kerr to try the procedure herself in hopes of achieving a younger look. My eyes are looking heavier, and the lines are so pronounced and gravitys really taken over, Kerr, 55, said. I want to look as good and as young as I really feel.

Kerr, a skin-care specialist from Ohio, underwent a stem-cell makeover in which fat was removed from her waist via liposuction. The fat was then spun in the lab to concentrate its stem cells and, hours later, injected into Kerrs face and breasts.

Were taking a patients own fatty tissue, and we are just repositioning it in another part of their body, said Dr. Sharon McQuillan, a physician and founder of the Ageless Institute in Aventura, Fla., where Kerr had her procedure done.

Courtesy Dr. Sharon McQuillan

Because the makeover uses a patients own stem cells, there is virtually no risk that the body will reject the transfer, according to doctors like McQuillan who perform the procedure.

This enhancement will be enough to make her [Kerr] happy, McQuillan said. She wont have any scars. She doesnt really have any of the risks associated with general anesthesia or a full face lift.

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4-Hour, Whole-Body 'Face-Lift' Uses Patient's Own Fat, Stem Cells

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EXTON, Pa.--(BUSINESS WIRE)--

In collaboration with Fibrocell Science, Inc., (OTCBB:FCSC.OB), researchers at the University of California, Los Angeles (UCLA) have identified two rare adult stem cell-like subpopulations in adult human skin, a discovery that may yield further ground-breaking research in the field of personalized medicine for a broad range of diseases. Using technology developed by Fibrocell Science, Inc. the researchers were able to confirm the existence of these two types of cells in human skin cell cultures, potentially providing a source of stem cell-like subpopulations from skin biopsies, which are quicker to perform, relatively painless and less invasive than bone marrow and adipose tissue extractions, which are the current methods for deriving adult stem cells for patient-specific cellular therapies.

The findings, which are reported in the inaugural issue of BioResearch Open Access, pertain to two subtypes of cells: SSEA3-expressing regeneration-associated (SERA) cells, which may play a role in the regeneration of human skin in response to injury and mesenchymal adult stem cells (MSCs), which are under investigation (by many independent researchers) for their ability to differentiate into the three main types of cells: osteoblasts (bone cells), chondrocytes (cartilage cells) and adipocytes (fat cells). Finding these specialized cells within the skin cell cultures is important because rather than undergoing a surgical organ or tissue transplantation to replace diseased or destroyed tissue, patients may one day be able to benefit from procedures by which stem cells are extracted from their skin, reprogrammed to differentiate into specific cell types and reimplanted into their bodies to exert a therapeutic effect. Research in this area is ongoing.

Finding these rare adult stem cell-like subpopulations in human skin is an exciting discovery and provides the first step towards purifying and expanding these cells to clinically relevant numbers for application to a variety of potential personalized cellular therapies for osteoarthritis, bone loss, injury and/or damage to human skin as well as many other diseases, said James A. Byrne, Ph.D., the studys lead author and Assistant Professor of Molecular and Medical Pharmacology at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA. In addition to pursuing our own research investigations with Fibrocell Science using this method, we envision a time not too far in the future when we will be able to isolate and produce mesenchymal stem cells and SERA cells on demand from skin samples, which may allow other researchers in need of specialized cells to pursue their own lines of medical and scientific research.

We congratulate the UCLA researchers on the publication of their breakthrough data, which may ultimately lead to new patient-specific, personalized cellular therapies to treat various diseases, said David Pernock, Chairman and CEO of Fibrocell Science, Inc. Fibrocell Science is proud of our role in helping to establish the potential of dermal skin cells for the future of personalized, regenerative medicine. We look forward to continuing our relationship with UCLA and Dr. Byrnes team to advance this research.

Discovering Viable, Regenerative Cells in the Skin

Dr. Byrne and colleagues confirmed previous research identifying a rare population of cells in adult human skin that has a marker called the stage-specific embryonic antigen 3 (SSEA3). Dr. Byrne observed that there was a significant increase in the number of SSEA3 expressing cells following injury to human skin, supporting the hypothesis that the SSEA3 biomarker can be used to facilitate the identification and isolation of these cells with tissue-regenerative properties.

Using Fibrocells proprietary technology, the researchers collected cells from small skin samples, cultured the cells in the lab, and purified them via a technique known as fluorescence-activated cell sorting (FACS). Under FACS, cells in suspension were tagged with fluorescent markers specific for undifferentiated stem cells. This method allowed the researchers to separate the rare cell subpopulations from other types of cells.

Dr. Byrne and colleagues also observed a rare subpopulation of functional MSCs in human skin that existed in addition to the SERA cells.

Being able to identify two sub-populations of rare, viable and functional cells that behave like stem cells from within the skin is an important finding because both cell types have the potential to be investigated for diverse clinical applications, said Dr. Byrne.

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Fibrocell Science Technology Leads to Discovery of Two Rare Adult Stem Cell-Like Subpopulations in Human Skin

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Public release date: 3-May-2012 [ | E-mail | Share ]

Contact: Caroline Marin crmarin@umn.edu 612-624-5680 University of Minnesota Academic Health Center

MINNEAPOLIS/SAINT PAUL (May 4, 2012) Researchers from the University of Minnesota's Lillehei Heart Institute have effectively treated muscular dystrophy in mice using human stem cells derived from a new process that for the first time makes the production of human muscle cells from stem cells efficient and effective.

The research, published today in Cell Stem Cell, outlines the strategy for the development of a rapidly dividing population of skeletal myogenic progenitor cells (muscle-forming cells) derived from induced pluripotent (iPS) cells. iPS cells have all of the potential of embryonic stem (ES) cells, but are derived by reprogramming skin cells. They can be patient-specific, which renders them unlikely to be rejected, and do not involve the destruction of embryos.

This is the first time that human stem cells have been shown to be effective in the treatment of muscular dystrophy.

According to U of M researchers who were also the first to use ES cells from mice to treat muscular dystrophy there has been a significant lag in translating studies using mouse stem cells into therapeutically relevant studies involving human stem cells. This lag has dramatically limited the development of cell therapies or clinical trials for human patients.

The latest research from the U of M provides the proof-of-principle for treating muscular dystrophy with human iPS cells, setting the stage for future human clinical trials.

"One of the biggest barriers to the development of cell-based therapies for neuromuscular disorders like muscular dystrophy has been obtaining sufficient muscle progenitor cells to produce a therapeutically effective response," said principal investigator Rita Perlingeiro, Ph.D., associate professor of medicine in the Medical School's Division of Cardiology. "Up until now, deriving engraftable skeletal muscle stem cells from human pluripotent stem cells hasn't been possible. Our results demonstrate that it is indeed possible and sets the stage for the development of a clinically meaningful treatment approach."

Upon transplantation into mice suffering from muscular dystrophy, human skeletal myogenic progenitor cells provided both extensive and long-term muscle regeneration which resulted in improved muscle function.

To achieve their results, U of M researchers genetically modified two well-characterized human iPS cell lines and an existing human ES cell line with the PAX7 gene. This allowed them to regulate levels of the Pax7 protein, which is essential for the regeneration of skeletal muscle tissue after damage. The researchers found this regulation could prompt nave ES and iPS cells to differentiate into muscle-forming cells.

Continued here:
U of M researchers develop new muscular dystrophy treatment approach using human stem cells

Recommendation and review posted by Bethany Smith

ScienceDaily (May 4, 2012) Researchers from the University of Minnesota's Lillehei Heart Institute have effectively treated muscular dystrophy in mice using human stem cells derived from a new process that -- for the first time -- makes the production of human muscle cells from stem cells efficient and effective.

The research, published May 4 in Cell Stem Cell, outlines the strategy for the development of a rapidly dividing population of skeletal myogenic progenitor cells (muscle-forming cells) derived from induced pluripotent (iPS) cells. iPS cells have all of the potential of embryonic stem (ES) cells, but are derived by reprogramming skin cells. They can be patient-specific, which renders them unlikely to be rejected, and do not involve the destruction of embryos.

This is the first time that human stem cells have been shown to be effective in the treatment of muscular dystrophy.

According to U of M researchers -- who were also the first to use ES cells from mice to treat muscular dystrophy -- there has been a significant lag in translating studies using mouse stem cells into therapeutically relevant studies involving human stem cells. This lag has dramatically limited the development of cell therapies or clinical trials for human patients.

The latest research from the U of M provides the proof-of-principle for treating muscular dystrophy with human iPS cells, setting the stage for future human clinical trials.

"One of the biggest barriers to the development of cell-based therapies for neuromuscular disorders like muscular dystrophy has been obtaining sufficient muscle progenitor cells to produce a therapeutically effective response," said principal investigator Rita Perlingeiro, Ph.D., associate professor of medicine in the Medical School's Division of Cardiology. "Up until now, deriving engraftable skeletal muscle stem cells from human pluripotent stem cells hasn't been possible. Our results demonstrate that it is indeed possible and sets the stage for the development of a clinically meaningful treatment approach."

Upon transplantation into mice suffering from muscular dystrophy, human skeletal myogenic progenitor cells provided both extensive and long-term muscle regeneration which resulted in improved muscle function.

To achieve their results, U of M researchers genetically modified two well-characterized human iPS cell lines and an existing human ES cell line with the PAX7 gene. This allowed them to regulate levels of the Pax7 protein, which is essential for the regeneration of skeletal muscle tissue after damage. The researchers found this regulation could prompt nave ES and iPS cells to differentiate into muscle-forming cells.

Up until this point, researchers had struggled to make muscle efficiently from ES and iPS cells. PAX7 -- induced at exactly the right time -- helped determine the fate of human ES and iPS cells, pushing them into becoming human muscle progenitor cells.

Once Dr. Perlingeiro's team was able to pinpoint the optimal timing of differentiation, the cells were well suited to the regrowth needed to treat conditions such as muscular dystrophy. In fact, Pax7-induced muscle progenitors were far more effective than human myoblasts at improving muscle function. Myoblasts, which are cell cultures derived from adult muscle biopsies, had previously been tested in clinical trials for muscular dystrophy, however the myoblasts did not persist after transplantation.

Read the original:
New muscular dystrophy treatment approach developed using human stem cells

Recommendation and review posted by Bethany Smith

Researchers from the University of Minnesota's Lillehei Heart Institute have effectively treated muscular dystrophy in mice using human stem cells derived from a new process that for the first time makes the production of human muscle cells from stem cells efficient and effective.

The research, published today in Cell Stem Cell, outlines the strategy for the development of a rapidly dividing population of skeletal myogenic progenitor cells (muscle-forming cells) derived from induced pluripotent (iPS) cells. iPS cells have all of the potential of embryonic stem (ES) cells, but are derived by reprogramming skin cells. They can be patient-specific, which renders them unlikely to be rejected, and do not involve the destruction of embryos.

This is the first time that human stem cells have been shown to be effective in the treatment of muscular dystrophy.

According to U of M researchers who were also the first to use ES cells from mice to treat muscular dystrophy there has been a significant lag in translating studies using mouse stem cells into therapeutically relevant studies involving human stem cells. This lag has dramatically limited the development of cell therapies or clinical trials for human patients.

The latest research from the U of M provides the proof-of-principle for treating muscular dystrophy with human iPS cells, setting the stage for future human clinical trials.

"One of the biggest barriers to the development of cell-based therapies for neuromuscular disorders like muscular dystrophy has been obtaining sufficient muscle progenitor cells to produce a therapeutically effective response," said principal investigator Rita Perlingeiro, Ph.D., associate professor of medicine in the Medical School's Division of Cardiology. "Up until now, deriving engraftable skeletal muscle stem cells from human pluripotent stem cells hasn't been possible. Our results demonstrate that it is indeed possible and sets the stage for the development of a clinically meaningful treatment approach."

Upon transplantation into mice suffering from muscular dystrophy, human skeletal myogenic progenitor cells provided both extensive and long-term muscle regeneration which resulted in improved muscle function.

To achieve their results, U of M researchers genetically modified two well-characterized human iPS cell lines and an existing human ES cell line with the PAX7 gene. This allowed them to regulate levels of the Pax7 protein, which is essential for the regeneration of skeletal muscle tissue after damage. The researchers found this regulation could prompt nave ES and iPS cells to differentiate into muscle-forming cells.

Up until this point, researchers had struggled to make muscle efficiently from ES and iPS cells. PAX7 induced at exactly the right time helped determine the fate of human ES and iPS cells, pushing them into becoming human muscle progenitor cells.

Once Dr. Perlingeiro's team was able to pinpoint the optimal timing of differentiation, the cells were well suited to the regrowth needed to treat conditions such as muscular dystrophy. In fact, Pax7-induced muscle progenitors were far more effective than human myoblasts at improving muscle function. Myoblasts, which are cell cultures derived from adult muscle biopsies, had previously been tested in clinical trials for muscular dystrophy, however the myoblasts did not persist after transplantation.

Here is the original post:
Researchers develop new muscular dystrophy treatment approach using human stem cells

Recommendation and review posted by Bethany Smith