27-09-2012 03:27 Almost £60 million of awards from the Medical Research Council (MRC) will help scientists gain fresh insights into illnesses and inherited disorders. The funding to the University's MRC Human Genetics Unit and the MRC Institute of Genetics and Molecular Medicine (IGMM) will help doctors develop and deliver new tests and therapies for patients. It will boost research into conditions such as schizophrenia, cystic fibrosis and genetic eye disorders including retinitis pigmentosa, coloboma and anophthalmia. Dr Chris Boyd, Dr Alastair Innes and Dr Steve Cunningham tell us about a groundbreaking gene therapy trial for adults and children with cystic fibrosis (CF) - coordinated by the UK Cystic Fibrosis Gene Therapy Consortium (GTC).

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UK's first cystic fibrosis gene therapy trial - Video

Recommendation and review posted by Bethany Smith

ScienceDaily (Sep. 27, 2012) For a cancer patient, over-expression of the MYC oncogene is a bad omen. Scientists have long known that in tumor cells, elevated levels of MYC's protein product, c-Myc, are associated with poor clinical outcomes, including increased rates of metastasis, recurrence, and mortality. Yet decades of research producing thousands of scientific papers on the subject have failed to consistently explain precisely how c-Myc exerts its effects across a broad range of cancer types. Until now, that is.

The prevailing theory emerging from this massive body of research has been that in tumor cells, c-Myc affects the expression of specific genes or sets of genes -- that so-called Myc target genes are being selectively activated or repressed, leading to aberrant cellular behavior. Now, however, researchers in the lab of Whitehead Institute Member Richard Young are dispelling this commonly held notion, showing that elevated expression of c-Myc amplifies the activity of all expressed genes in tumor cells of multiple cancer types. It turns out that high levels of c-Myc send a tumor cell's gene expression program into overdrive. Transcription increases dramatically, allowing malignant cells to overwhelm factors that might normally hamper their growth and proliferation. This surprising finding, published in this week's issue of the journal Cell, provides a simple, elegant explanation for how a single protein can have such profound effect in so many and varied types of cancer. The newly revealed mechanism may also help scientists develop novel therapeutic approaches that disrupt c-Myc's activity.

"MYC is a key driver in most major cancers, but it has been notoriously difficult to drug," says Young, who is also a professor of biology at MIT. "Now that we know the mechanism by which c-Myc acts, we can go after the components of that mechanism as potential drug targets. This research creates an even stronger impetus to find a way to drug the thing."

One potential drawback to thwarting c-Myc's activity is the important role it plays in normal cell division. That role is so powerful that cells co-evolved an emergency death pathway to keep c-Myc expression in check. If c-Myc's production spins out of control in an otherwise normal cell, the cell immediately commits suicide through a process called apoptosis. But in cancer cells in which c-Myc is overproduced, this suicide pathway is compromised, allowing the cell to survive and proliferate.

"MYC is the most deregulated gene in cancer," says Charles Lin, a graduate student in the Young lab and co-author of the Cell paper. "It's been called a bad-boy, a Swiss army knife, and a jack-of-all-trades because, according to previous research, it could do everything under the sun in a cancer cell. But most of the different attributes ascribed to MYC are contradictory or seemingly incompatible."

Propelled by its earlier research that identified c-Myc as an important regulator of transcription in embryonic stem cells, the Young lab began to focus on c-Myc's activity within cancer cells. Lab members found that as the expression of c-Myc increases in these cells, the protein attaches to the promoters and enhancers of all active genes, thereby amplifying the active genes' transcription. The heightened transcription produces cells bloated with excessive RNAs and proteins capable of altering normal cellular functions. Researchers observed this phenomenon in cells from a host of cancers, including Burkitt's lymphoma, small cell lung cancer, multiple myeloma, and glioblastoma multiforme.

"The previous research now makes sense -- finally!" says Jakob Lovn, co-author and postdoctoral researcher in the Young lab. "Our findings provide a way to unify everybody's seemingly conflicting data. I think that's really nice. Instead of saying 'you're all wrong,' we're saying 'you're all right, and here's why.' The model makes a lot of sense in terms of the biology that has been described so far."

With a better understanding of how c-Myc can wreak so much damage, the Young lab is turning its efforts to disrupting c-Myc's activity. Although cancer cells that overproduce c-Myc are associated with poor clinical outcomes, their reliance on c-Myc for survival may represent an Achilles' heel. When these "Myc-addicted" cells are deprived of c-Myc in vitro, even for a short period of time, they quickly die. Research in mice has shown that, Myc-addicted tumors deprived of the protein shrink dramatically. Despite c-Myc's necessary role in normal cell division, particularly in tissues with rapid cell turnover, such as the intestine and blood, these mouse studies have shown that if c-Myc activity is restored after a brief period, normal tissues quickly bounce back, while tumors are unable to regain their footing.

"So what we think now is that potentially, if drugs can tune down the levels of transcription just slightly, this might be catastrophic for the Myc-addicted cancer cells," says Peter Rahl, co-author and postdoctoral researcher in the Young lab. "You wouldn't need to abolish all transcription because that would be toxic to your other cells. So we're hoping that our model will show us ways to create a therapeutic window where the Myc-addicted cells just won't be able to adapt to lower levels of transcripts."

This work was supported by National Institutes of Health (grants HG002668 and CA146445), Swedish Research Council, American Cancer Society, and Damon-Runyon Cancer Research Foundation.

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Aggressive cancer exploits Myc oncogene to amplify global gene activity

Recommendation and review posted by Bethany Smith

BUDAPEST, HUNGARY--(Marketwire - Sep 28, 2012) - Power of the Dream Ventures, Inc. ( OTCBB : PWRV ) is pleased to announce the acquisition of Genetic Immunity, Inc., a Phase III clinical stage biotechnology company with experimental nanomedicines that will lead to the next generation of immunotherapies, in a market that is projected to reach $11.00 billion by 2018.

Genetic Immunity's lead product candidate is an immune boosting drug for HIV, which is now only treated by antiretroviral drugs that decrease the ability of the immune system to fight with the virus. DermaVir HIV-specific Immunotherapy is the first of a new line of curative nanomedicine products developed for the treatment and eradication of HIV. In addition, Genetic Immunity has implemented a Predictive Genomic Biomarker as companion diagnostics to accurately predict potential responder patients to DermaVir treatment. Such innovations towards personalized medicine increase the treatment effect and reduce the cost of pivotal trials in full compliance with the FDA's initiatives to improve products for patients (Driving Biomedical Innovation, 2011). In addition, following a successful DermaVir trial on HIV-infected adults, the US government is sponsoring a Phase II pediatric clinical trial.

DermaVir is the first therapeutic vaccine that consistently boosts broadly directed central memory T-cells in human subjects. This immune response has been correlated with containment of viremia in Elite Controllers. The Phase II randomized, multicenter, placebo controlled trial conducted in Germany established the optimal DermaVir dose and provided data that demonstrates the killing of HIV-infected cells. Therefore, the eradication of HIV or the conversion of progressors to Elite Controllers via DermaVir immunization became a testable hypothesis.

"This acquisition milestone is the result of our collaboration for a common goal to sell stock in Genetic Immunity to the public. The acquisition of a private company by a public one corresponds to a novel IPO, and offers tremendous upside potential for all the shareholders of Genetic Immunity and PWRV. Starting today, financial market participants will have an opportunity to determine the price of our business. We are eager, because comparable technology companies trade at over half a billion dollar valuation. On a more personal note, I believe that Genetic Immunity's platform technology is a once in a lifetime opportunity. For the first time we are truly in reach of eradicating a highly infectious disease. We are proud to be a part of the process whereby the innovations presented by Genetic Immunity can become publicly available," commented Viktor Rozsnyay, CEO of Power of the Dream Ventures.

"Through this highly innovative financial transaction, Genetic Immunity achieves its corporate objective to become a publicly traded company and to retain the control over the business. The financial and technological synergy between the two Companies provides for substantial growth opportunity and high return on investment to our shareholders," said Dr. Julianna Lisziewicz, CEO of Genetic Immunity.

With the acquisition Genetic Immunity becomes a 100% wholly owned subsidiary of Power of the Dream Ventures, Inc.

About PDV Power of the Dream Ventures, Inc. is a leading technology holding company. We identify and harness the unique technological prowess of Hungary's high-tech industry, turning promising ideas and ready to market products/technologies into global industry leaders. We focus on developing, acquiring, or co-developing technologies that originate exclusively in Hungary. For more information, please visit http://www.powerofthedream.com

About Genetic Immunity Genetic Immunity is a clinical stage technology company committed to discovering, developing, manufacturing and commercializing a new class of immunotherapeutic biologic drugs for the treatment of viral infections, cancer and allergies. The Company's two distinguished technology platforms will revolutionize the treatment of these chronic diseases. Our Langerhans' cell targeting nanomedicines are exceptional in both safety and immune modulating activity boosting specific Th1-type central memory T cells. Such immune responses differ from antibodies induced by vaccines. These are essential to eliminate infected cells or cancerous cells, and balance the immune reactivity in response to allergens. Our IT team generated a complex algorithm to match the mechanism of action of our drugs with clinical efficacy. In the future, we will predict the clinical and immunological benefits of our drugs based on the patient's disease and genomic background. The unique mixture of our technologies represents the next generation of personalized but not individualized medicines ensuring a longer and higher economic return.

Genetic Immunity's primary focus is the development of DermaVir that acts to boost the immune system of HIV-infected people to eliminate infected cells that remain in the reservoirs after successful antiretroviral treatment. Three clinical trials conducted in the EU and US showed that DermaVir immunizations were as safe as placebo and only four sequential patch treatments required to reduce the HIV infected cells in the blood within 24 weeks.

In 1988 Drs. Lisziewicz and Lori founded Genetic Immunity in the US after they described the 1st patient whose immune system was boosted to control HIV after treatment interruption (Lisziewicz et al. New England Journal of Medicine 1999) that lead to the invention of DermaVir. The Company's innovative technology team directed by Dr. Lisziewicz, a champion of immune busting therapies, is now headquartered in Budapest, Hungary. For more information please visit http://www.geneticimmunity.com

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Power of the Dream Ventures Acquires Genetic Immunity

Recommendation and review posted by Bethany Smith

Public release date: 27-Sep-2012 [ | E-mail | Share ]

Contact: Jennifer Schutz newsbureau@mayo.edu 507-284-5005 Mayo Clinic

ROCHESTER, Minn. -- Mayo Clinic researchers have found a way to detect and eliminate potentially troublemaking stem cells to make stem cell therapy safer. Induced Pluripotent Stem cells, also known as iPS cells, are bioengineered from adult tissues to have properties of embryonic stem cells, which have the unlimited capacity to differentiate and grow into any desired types of cells, such as skin, brain, lung and heart cells. However, during the differentiation process, some residual pluripotent or embryonic-like cells may remain and cause them to grow into tumors.

"Pluripotent stem cells show great promise in the field of regenerative medicine; however, the risk of uncontrolled cell growth will continue to prevent their use as a therapeutic treatment," says Timothy Nelson, Ph.D., M.D., lead author on the study, which appears in the October issue of STEM CELLS Translational Medicine.

Using mouse models, Mayo scientists overcame this drawback by pretreated stem cells with a chemotherapeutic agent that selectively damages the DNA of the stem cells, efficiently killing the tumor-forming cells. The contaminated cells died off, and the chemotherapy didn't affect the healthy cells, Dr. Nelson says.

"The goal of creating new therapies is twofold: to improve disease outcome with stem cell-based regenerative medicine while also ensuring safety. This research outlines a strategy to make stem cell therapies safer for our patients while preserving their therapeutic efficacy, thereby removing a barrier to translation of these treatments to the clinic," says co-author Alyson Smith, Ph.D.

Stem cell therapies continue to be refined and improved. Researchers are finding that stem cells may be more versatile than originally thought, which means they may be able to treat a wider variety of diseases, injuries and congenital anomalies. Stem cell therapy is an emerging regenerative strategy being studied at Mayo Clinic.

"By harnessing the potential of regenerative medicine, we'll be able to provide more definitive solutions to patients," says Andre Terzic, M.D., Ph.D., co-author and director of Mayo Clinic's Center for Regenerative Medicine.

###

Other members of the Mayo research team included Clifford Folmes, Ph.D., Katherine Hartjes, Natalie Nelson and Saji Oommen, Ph.D. The research was supported by the Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome, National Institutes of Health New Innovator Award OD007015-01, and a Mayo Clinic Center for Regenerative Medicine accelerated research grant.

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Mayo Clinic finds way to weed out problem stem cells, making therapy safer

Recommendation and review posted by Bethany Smith

Public release date: 27-Sep-2012 [ | E-mail | Share ]

Contact: NHLBI Office of Communications nhlbi_news@nhlbi.nih.gov 301-496-4236 NIH/National Heart, Lung and Blood Institute

Scientists may have discovered why a protein called MYC can provoke a variety of cancers. Like many proteins associated with cancer, MYC helps regulate cell growth. A study carried out by researchers at the National Institutes of Health and colleagues found that, unlike many other cell growth regulators, MYC does not turn genes on or off, but instead boosts the expression of genes that are already turned on.

These findings, which will be published in Cell on Sept. 28, could lead to new therapeutic strategies for some cancers.

"We carried out a highly sophisticated analysis of MYC activity in cells, but came away with a simple rule. MYC is not a power switch but a universal amplifier," said co-lead study author Keji Zhao, Ph.D., director of the Systems Biology Center at the NIH's National Heart, Lung, and Blood Institute (NHLBI). "This discovery offers a unifying idea of how and why abnormal levels of MYC are found in so many different cancer types, such as breast cancer, lung cancer, and several blood cancers."

"MYC is much like the volume control of a music player," added co-lead David Levens, M.D., Ph.D., a senior investigator in the Laboratory of Pathology at the National Cancer Institute (NCI), also part of NIH. "If you're listening to opera, for example, adding more MYC will make the opera louder, but it won't change the program to rap. And if you have only silence, MYC will just give you more silence."

Both researchers noted that this new understanding of MYC function could influence future treatment efforts for MYC-associated tumors. They suggest that trying to limit MYC activity, or turning down the volume just the right amount, would be a better strategy than using targeted chemotherapy to try to eliminate all MYC activity.

MYC aids in cell activation, a process in which cells mature and divide quickly. During an immune response, for example, white blood cells are activated to help fight infections. If activation isn't properly regulated, then cells can start growing out of control and result in cancer. Researchers have known that abnormally high levels of MYC can lead to cancer, but until now, no one had been able to explain how it can lead to so many different cancers.

Zhao, Levens, and their colleagues used a specially designed fluorescent protein that allowed them to track MYC in white blood cells in a lab dish. They chose white blood cells, specifically B cells and T cells that fight infections, because they are frequently affected by abnormal MYC and can transform into lymphoma and myeloma cells.

The team exposed the B and T cells to foreign toxins to stimulate an immune response and activate the fluorescent MYC. The researchers could then examine the cells at different time points and see which genes the MYC proteins seemed to affect.

Read more from the original source:
Major cancer protein amplifies global gene expression, NIH study finds

Recommendation and review posted by Bethany Smith

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/gdkzds/down_syndrome) has announced the addition of Elsevier Science and Technology's new book "Down Syndrome: From Understanding the Neurobiology to Therapy, Vol 197" to their offering.

Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system.

This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brain, network genetics, engineered mouse models and applications to human and mouse behavioral and cognitive phenotypes. It brings together scientists of diverse backgrounds, by facilitating the integration of research directed at different levels of biological organization, and by highlighting translational research and the application of the existing scientific knowledge to develop improved DS treatments and cures.

- Leading authors review the state-of-the-art in their field of investigation and provide their views and perspectives for future research

- Chapters are extensively referenced to provide readers with a comprehensive list of resources on the topics covered

- All chapters include comprehensive background information and are written in a clear form that is also accessible to the non-specialist

For more information visit http://www.researchandmarkets.com/research/gdkzds/down_syndrome

Source: Elsevier Science and Technology

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Research and Markets: Down Syndrome: From Understanding the Neurobiology to Therapy, Vol 197

Recommendation and review posted by Bethany Smith

Public release date: 27-Sep-2012 [ | E-mail | Share ]

Contact: Zachary Rathner Zachary.Rathner@oup.com 301-841-1286 Journal of the National Cancer Institute

The CRCgene database, which gathers all genetic association studies on colorectal cancer, allows for researchers to accurately interpret the risk factors of the disease and provides insight into the direction of further colorectal cancer research, according to a study published September 27 in the Journal of the National Cancer Institute.

Approximately 950,000 new cases of colorectal cancer are diagnosed each year. The risk of developing the disease also increases with age, and as life expectancy rises, the incidence continues to grow. These factors paired with rising health care costs have made both diagnosis and treatments for the disease costly. While diet and lifestyle may affect colorectal cancer incidence, so may genetic factors, and it is important to determine which genetic factors are most heavily associated with colorectal cancer incidence.

In order to determine the genetic factors associated with colorectal cancer, Julian Little, Ph.D., of the Department of Epidemiology and Community Medicine at the University of Ottawa and colleagues, gathered data from previously published guidelines for assessing cumulative evidence on genetic association studies, and performed meta-analyses on all the data, compiling all genetic association studies published in the field. The credibility of the studies was determined by the Venice criteria and the Bayesian False Discovery Probability (BFDP) test.

The researchers found 16 independent gene variants had the most highly credible links to colorectal cancer, with 23 variants. "The number of common, low-penetrance variants that appear to be associated with colorectal cancer is very much less than anticipated, therefore decreasing the feasibility of combining variants as a profile in a prediction tool for stratifying screening modalities on primary prevention approaches," the authors write. Still, they feel that, "the analysis here provides a resource for mining available data and puts into context the sample sizes required for the identification of true associations."

###

Contact Info:

Julian Little, Ph.D., jlittle@uottowa.ca

Evi Theodoratou, Ph.D., e.theodoratou@ed.ac.uk

More here:
Colorectal cancer gene database helpful in furthering research

Recommendation and review posted by Bethany Smith

Newswise WINSTON-SALEM, N.C. Sept., 26, 2012 Fewer than 100 people in the world are known to be affected by a movement disorder called rapid-onset dystonia-parkinsonism (RDP), but its symptoms are life-changing. Seemingly normal young people are suddenly and dramatically unable to control movement of their arms or legs and have trouble speaking or swallowing. A normal life is nearly impossible.

RDP is caused by a genetic mutation (ATP1A3) that often runs in families. Now Wake Forest Baptist Medical Center researchers believe that same the genetic predisposition might also be associated with psychiatric problems, such as anxiety, mood disorders and substance abuse/dependence.

Allison Brashear, M.D., chair of neurology at Wake Forest Baptist, and the lead investigator in this $2.5 million, four-year study funded by the National Institute of Neurological Disorders and Stroke (NINDS), said this is one of the few studies to look at this rare condition that has no known treatment. RDP often occurs suddenly after a stressful episode, such as running a marathon or childbirth, said Brashear. Patients become severely disabled over hours to days and do not recover.

Brashear and nine other Wake Forest Baptist scientists, as well as colleagues from Harvard Medical School and Mount Sinai School of Medicine, enrolled 56 individuals for this study. Twenty-three of the RDP patients were related, three RDP patients were unrelated.

Of the 29 participants with the genetic mutation, 26 had dystonia symptoms and three were carriers, but without the motor symptoms; the remaining 27 participants without the mutation, were enrolled as the control group.

Following standard physical examination and behavioral assessment, Brashears team found that individuals with the mutation but without the motor symptoms did not report any history of psychiatric disorder, while those with dystonia symptoms reported anxiety (48 percent; control 41percent), mood (50 percent; control 22 percent), psychotic (19 percent; control 0 percent) and substance abuse/dependence (38 percent; control 27 percent).

Researchers concluded that ATP1A3 mutations cause a wide spectrum of motor and nonmotor symptoms and that psychotic symptoms tended to develop before or simultaneous to the beginning of motor dysfunction. Further, the team believes the findings suggest psychiatric disorders may be another expression of the genetic mutation. Brashear said there are also clinical implications as a result of this study and suggested that those who deal with patients with psychosis, particularly in families with a history of dystonia-parkinsonism, consider the genetic mutation as a possible contributor to the mental illness.

Co-authors in this study were: Jared F. Cook, M.A., Deborah F. Hill, M.A, Alethea Amponsah, B.A., Beverly M. Snively, Ph.D., Laney Light, M.S., Cynthia K. Suerken, M.S., W. Vaughn McCall, M.D., and Niki Boggs, B.A., of Wake Forest Baptist; Laurie Ozelius, Ph.D., Mount Sinai School of Medicine; and Kathleen J. Sweadner, Ph.D., Harvard Medical School.

Funding for this study was provided by the National Institute for Neurological Disorders and Stroke through Grant # NINDS 5R01-NS058949-04.

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Shared Genetic Link in Psychiatric and Movement Disorders

Recommendation and review posted by Bethany Smith

ScienceDaily (Sep. 27, 2012) An isolated outbreak of a deadly disease known as acute hemorrhagic fever, which killed two people and left one gravely ill in the Democratic Republic of Congo in the summer of 2009, was probably caused by a novel virus scientists have never seen before.

Described this week in the open-access journal PLoS Pathogens, the new microbe has been named Bas-Congo virus (BASV) after the province in the southwest corner of the Congo where the three people lived.

It was discovered by an international research consortium that included the University of California, San Francisco (UCSF) and University of California, Davis (UCD), Global Viral, the Centre International de Recherches Mdicales de Franceville in Gabon, the Institut National de Recherche Biomdicale, Kinshasa in the Democratic Republic of the Congo, Metabiota and others.

"Known viruses, such as Ebola, HIV and influenza, represent just the tip of the microbial iceberg," said Joseph Fair, PhD, a co-author and vice president of Metabiota. "Identifying deadly unknown viruses, such as Bas-Congo virus, gives us a leg up in controlling future outbreaks."

"These are the only three cases known to have occurred, although there could be additional outbreaks from this virus in the future," said Charles Chiu, MD, PhD, an assistant professor of laboratory medicine at UCSF and director of the UCSF-Abbott Viral Diagnostics and Discovery Center, who spearheaded the UCSF effort to identify the virus. Chiu and his team continue to work on new diagnostics to detect the virus so that health officials in Congo and elsewhere can quickly identify it should it emerge again.

One odd characteristic of the Bas-Congo virus, Chiu said, is that while a number of other viruses in Africa also cause deadly outbreaks of acute hemorrhagic fever -- Ebola virus, Lassa virus and Crimean-Congo Hemorrhagic Fever virus to name a few -- the new virus is unlike any of them.

Genetically it is more closely related to the types of viruses that cause rabies, which are known to infect people with a very different sort of disease -- a neurological illness that is uniformly fatal if untreated but may take months to develop.

An antibody test developed in this study was applied to the one patient who survived and to others who had come into contact with him. It suggested that the disease may be spread from person to person but likely originated from some other source, such as an insect or rodent.

The identity of this animal "reservoir" and the precise mode of transmission for the virus remain unclear and are currently being investigated by Metabiota and the central African members of the consortium through the PREDICT Project of USAID's Emerging Pandemic Threats Program. (http://www.vetmed.ucdavis.edu/ohi/predict/index.cfm)

How the New Virus Emerged

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Genetic sleuthing uncovers deadly new virus in Africa

Recommendation and review posted by Bethany Smith

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/9p5pz7/dentoorocraniofa) has announced the addition of Elsevier Science and Technology's new book "Dento/Oro/Craniofacial Anomalies and Genetics" to their offering.

Dental defects may be the physical expression of genetic defects, and so they can often be seen in a variety of syndromes associated with malformations of organs. However, dental defects are often not recognized, identified, nor characterised despite representing a possible diagnostic sign for an undiagnosed condition. This book addresses this gap by providing an understanding of dental genetics and its developmental biology counterpart. With approximately seventy well-illustrated examples, the authors present the clinical oro-facial manifestations accompanying various syndromes, providing the necessary knowledge for diagnostic purposes, as well as giving insight into recent development for each specific condition. The clarity and format of this book make it an ideal support guide both in the clinic and while conducting research.

Key Features:

- Comprehensive examination of dento/oro/craniofacial anomalies

- Well-illustrated examples

- Presented in a compact, easy to use format

Topics Covered:

1. Odontogenesis, Anomalies and Genetics

2. Missing Teeth (Hypodontia, Oligodontia)

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Research and Markets: Dento/Oro/Craniofacial Anomalies and Genetics

Recommendation and review posted by Bethany Smith

SILVER SPRING, Md., Sept. 27, 2012 (GLOBE NEWSWIRE) -- Nuvilex, Inc. (NVLX), an international biotechnology provider of cell and gene therapy solutions, announced today that Austrianova Singapore Pte Ltd (ASPL) will reveal confirmatory findings from a second phase 2 pancreatic cancer clinical trial that used the encapsulated cytochrome P450 expressing cells followed by chemotherapy to treat pancreatic cancer at the International Society for Cell and Gene Therapy (ISCGT) meeting next week.

ASPL's Chief Operating Officer, Dr John Dangerfield, will be presenting the clinical data at the upcoming ISCGT meeting in Singapore, October 4-7. The ISCGT has previously organized numerous meetings in the US, England, France, Germany, Italy, Ireland, China, India and Egypt. The ISCGT works in close collaboration with national societies and organizations, as well as local clinicians, to promote cell and gene therapies for use in cancer therapy advancement and treatment. Council members of the ISCGT include leading experts and peers that have made major contributions to advance cell and gene therapies.

Dr. Brian Salmons, CEO of ASPL stated, "We determined that the ISCGT would be an important forum for presenting this additional data. The value for bringing this to ISCGT is a result of how they have been championing major developments in cell and gene therapy based approaches to treat cancer over the past several years. We are very pleased to have Dr. Dangerfield representing us as a speaker at this year's conference and presenting this important advancement to our work."

Dr. Robert F. Ryan, CEO of Nuvilex said, "The most important aspect of what will be presented at ISCGT is that safety and mean survival pancreatic cancer trial data being shown has not previously appeared in the public domain. Therefore, we are very pleased that this data will be shown at this conference. The data that Dr. Dangerfield will present confirms and extends the previous clinical trial results - namely that our encapsulated cell therapy, when used in combination with the appropriate chemotherapy, is safe, well-tolerated and efficacious for treating pancreatic cancer."

About Nuvilex

Nuvilex, Inc. (NVLX) is an international biotechnology provider of live therapeutically valuable, encapsulated cells and services for research and medicine. Substantial progress in multiple areas will be providing the Company with increased potential and we look forward to bringing those forward shortly. Our company's clinical offerings will include cancer, diabetes and other treatments using the company's cell and gene therapy expertise and live-cell encapsulation technology.

The Nuvilex, Inc. logo is available at http://www.globenewswire.com/newsroom/prs/?pkgid=13494

Safe Harbor Statement

This press release contains forward-looking statements described within the 1995 Private Securities Litigation Reform Act involving risks and uncertainties including product demand, market competition, and meeting current or future plans which may cause actual results, events, and performances, expressed or implied, to vary and/or differ from those contemplated or predicted. Investors should study and understand all risks before making an investment decision. Readers are recommended not to place undue reliance on forward-looking statements or information. Nuvilex is not obliged to publicly release revisions to any forward-looking statement, reflect events or circumstances afterward, or disclose unanticipated occurrences, except as required under applicable laws.

Continued here:
Nuvilex's Subsidiary, Austrianova Singapore, to Provide Confirmatory Findings From Additional Pancreatic Cancer Trial ...

Recommendation and review posted by Bethany Smith

NEWARK, Calif., Sept. 27, 2012 (GLOBE NEWSWIRE) -- StemCells, Inc. (STEM) today announced that the first patient with an incomplete spinal cord injury has been enrolled in the Company's Phase I/II clinical trial in chronic spinal cord injury and transplanted with the Company's proprietary HuCNS-SC(R) neural stem cells. The patient, a Canadian man who suffered a thoracic spinal cord injury from a sports-related accident, was administered the cells yesterday at Balgrist University Hospital, University of Zurich, a world leading medical center for spinal cord injury and rehabilitation. This is the first patient in the second cohort of the trial, which will be comprised of four patients who retain some sensory function below the level of trauma and are therefore considered to have an incomplete injury.

"This is an important milestone for StemCells and the spinal cord injury community as it is the first time anyone has ever transplanted neural stem cells into a patient with an incomplete injury," said Stephen Huhn, MD, FACS, FAAP, Vice President and Head of the CNS Program at StemCells, Inc. "Given the encouraging interim data from the most severely injured patient cohort that we reported earlier this month, testing patients with less severe injury should afford us an even better opportunity to continue to test safety and to detect and assess clinical changes. Unlike the patients in the first cohort, patients with incomplete injuries have retained a degree of spinal cord function that might be even further augmented by transplantation with neural stem cells."

Earlier this month, the Company reported that interim six-month data from the first patient cohort in the Phase I/II clinical trial continued to demonstrate a favorable safety profile, and showed considerable gains in sensory function in two of the three patients compared to pre-transplant baselines. Patients in the first cohort all suffered a complete injury to their spinal cord, leaving them with no neurological function below the level of injury. Following transplantation with HuCNS-SC cells, there were no abnormal clinical, electrophysiological or radiological responses to the cells, and all the patients were neurologically stable through the first six months after transplantation. Changes in sensitivity to touch, heat and electrical stimuli were observed in well-defined and consistent areas below the level of injury in two of the patients, while the third patient remained stable. Importantly, the changes in sensory function were confirmed objectively by measures of electrical impulse transmission across the site of injury, each of which correlated with the clinical examination.

About the Spinal Cord Injury Clinical Trial

The Phase I/II clinical trial of StemCells, Inc.'s HuCNS-SC(R) purified human adult neural stem cells is designed to assess both safety and preliminary efficacy. Twelve patients with thoracic (chest-level) neurological injuries at the T2-T11 level are planned for enrollment, and their injuries must have occurred within three to twelve months prior to transplantation of the cells. In addition to assessing safety, the trial will assess preliminary efficacy based on defined clinical endpoints, such as changes in sensation, motor function and bowel/bladder function. The Company has dosed the first patient cohort, all of whom have injuries classified as AIS A according to the American Spinal Injury Association Impairment Scale (AIS). In AIS A injuries, there is no neurological function below the injury level. The second cohort will be patients classified as AIS B, in which there is some preservation of sensory or motor function below the injury level. The third cohort will be patients classified as AIS C, in which there is some preservation of both sensory and motor function.

All patients will receive HuCNS-SC cells through direct transplantation into the spinal cord and will be temporarily immunosuppressed. Patients will be evaluated regularly in the post-transplant period in order to monitor and assess the safety of the HuCNS-SC cells, the surgery and the immunosuppression, as well as to measure any recovery of neurological function below the injury site. The Company intends to follow the effects of this therapy long-term, and each of the patients will be invited to enroll into a separate four year observational study after completing the Phase I/II study.

The trial is being conducted at Balgrist University Hospital, University of Zurich, a world leading medical center for spinal cord injury and rehabilitation, and is open for enrollment to patients in Europe, Canada and the United States. Enrollment for the second cohort is now underway. If you believe you may qualify and are interested in participating in the study, please contact the study nurse either by phone at +41 44 386 39 01 or by email at stemcells.pz@balgrist.ch.

Additional information about the Company's spinal cord injury program can be found on the StemCells, Inc. website at http://www.stemcellsinc.com/Therapeutic-Programs/Clinical-Trials.htm and at http://www.stemcellsinc.com/Therapeutic-Programs/Spinal-Cord-Injury.htm, including video interviews with Company executives and independent collaborators.

About Balgrist University Hospital

Balgrist University Hospital, University of Zurich is recognized worldwide as a highly specialized center of excellence providing examination, treatment and rehabilitation opportunities to patients with serious musculoskeletal conditions. The clinic owes its leading international reputation to its unique combination of specialized medical services. The hospital's carefully-balanced, interdisciplinary network brings together under one roof medical specialties including orthopedics, paraplegiology, radiology, anesthesiology, rheumatology, and physical medicine. More information about Balgrist University Hospital is available at http://www.balgrist.ch.

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StemCells, Inc. Achieves Spinal Cord Injury Milestone With First Neural Stem Cell Transplant Into Patient With Sensory ...

Recommendation and review posted by sam

By Barbara Puffer, Conn. Health I-Team Writer

The American Civil Liberties Union (ACLU) this week asked the U.S. Supreme Court to invalidate patents for two genes used to test for hereditary breast and ovarian cancer held by a Utah Company.

The lawsuit against Myriad Genetics of Utah which holds the patents on genes called BRCA1 and BRCA 2 charges that the patents are illegal and restrict both scientific research and patients access to medical care. In the 15 years that Myriad had held the patent, the cost for the test has more than doubled to about $3,340 -- and plaintiffs say that the cost is too expensive for some women.

The ACLU and the Public Patent Foundation filed the lawsuit against Myriad in 2009 on behalf of 20 plaintiffs including Ellen Matloff of New Haven, a research scientist in genetics at the Yale School of Medicine and director of Cancer Genetic Counseling at the Yale Cancer Center.

The suit also raises broad legal and ethical questions under the First Amendment about whether genes are products of nature or commercial commodities.

Myriad has previously stated: Since a landmark US Supreme Court decision in 1980, the US Patent and Trademark Office has granted tens of thousands of genetic and genetic related patents which cover a large number of life-saving pharmaceutical and diagnostic productsMyriad strongly believes that its patents are valid and enforceable and will be upheld by the courts.

For women who have had breast or ovarian cancer before the age of 50, and/or have immediate family members who had had one of these cancers, the BRCA1 and BRCA2 genetic test could be a lifesaver. Precautions can be taken by those who discover they have the mutation. The testing also detects familial risk in men. Yet many uninsured and underinsured candidates are finding Myriads monopoly testing costs out of reach, the lawsuit says.

Connecticut has the second highest incidence of female breast cancer in the nation with 2,920 new breast cancer cases diagnosed in 2008and ranks 35th in the nation for breast cancer mortality. The U.S Preventive Services Task Force estimates that 2 percent of all women which would include about 2,700 of the uninsured women in Connecticutare likely candidates for the BRAC Analysis test.

Sandra Park, staff attorney with the ACLU Womens Rights Project, said, We are asking the Supreme Court to rule in favor of women who are counting on access to the best possible medical care and research. No single company should be able to stop the brightest scientific minds from advancing what we know about two genes that are connected to devastating diseases.

In July 2011, the U.S. Court of Appeals upheld the patents. The appeals court decision was appealed to the U.S. Supreme Court and in March, the high court issued an order directing the appeals court to reconsider its initial decision in light of a related patent case decided by the court a year earlier. In August, by a 2-to-1 vote, the appeals court ruled Myriad could hold the patents.

Continued here:
Breast cancer gene patent suit heads back to U.S. Supreme Court

Recommendation and review posted by Bethany Smith

Public release date: 27-Sep-2012 [ | E-mail | Share ]

Contact: Paula Faria pfaria@wakehealth.edu 336-716-1279 Wake Forest Baptist Medical Center

WINSTON-SALEM, N.C. Sept., 26, 2012 Fewer than 100 people in the world are known to be affected by a movement disorder called rapid-onset dystonia-parkinsonism (RDP), but its symptoms are life-changing. Seemingly normal young people are suddenly and dramatically unable to control movement of their arms or legs and have trouble speaking or swallowing. A normal life is nearly impossible.

RDP is caused by a genetic mutation (ATP1A3) that often runs in families. Now Wake Forest Baptist Medical Center researchers believe that same genetic predisposition might also be associated with psychiatric problems, such as anxiety, mood disorders and substance abuse/dependence.

Allison Brashear, M.D., chair of neurology at Wake Forest Baptist, and the lead investigator in this $2.5 million, four-year study funded by the National Institute of Neurological Disorders and Stroke (NINDS), said this is one of the few studies to look at this rare condition that has no known treatment. "RDP often occurs suddenly after a stressful episode, such as running a marathon or childbirth," said Brashear. "Patients become severely disabled over hours to days and do not recover."

Brashear and nine other Wake Forest Baptist scientists, as well as colleagues from Harvard Medical School and Mount Sinai School of Medicine, enrolled 56 individuals for this study. Twenty-three of the RDP patients were related, three RDP patients were unrelated.

Of the 29 participants with the genetic mutation, 26 had dystonia symptoms and three were carriers, but without the motor symptoms; the remaining 27 participants without the mutation, were enrolled as the control group.

Following standard physical examination and behavioral assessment, Brashear's team found that individuals with the mutation but without the motor symptoms did not report any history of psychiatric disorder, while those with dystonia symptoms reported anxiety (48 percent; control 41percent), mood (50 percent; control 22 percent), psychotic (19 percent; control 0 percent) and substance abuse/dependence (38 percent; control 27 percent).

Researchers concluded that ATP1A3 mutations cause a wide spectrum of motor and nonmotor symptoms and that psychotic symptoms tended to develop before or simultaneous to the beginning of motor dysfunction. Further, the team believes the findings suggest psychiatric disorders may be another expression of the genetic mutation. Brashear said there are also clinical implications as a result of this study and suggested that those who deal with patients with psychosis, particularly in families with a history of dystonia-parkinsonism, consider the genetic mutation as a possible contributor to the mental illness.

###

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Research suggests shared genetic link in psychiatric and movement disorders

Recommendation and review posted by Bethany Smith

Public release date: 26-Sep-2012 [ | E-mail | Share ]

Contact: Kristen Woodward kwoodwar@fhcrc.org 206-667-5095 Fred Hutchinson Cancer Research Center

SEATTLE Uncovering colon cancer's genetic roots is the focus of a new $13 million, four-year, National Cancer Institute-funded project at Fred Hutchinson Cancer Research Center. Ulrike (Riki) Peters, Ph.D., M.P.H., a member of the Hutchinson Center's Public Health Sciences Division, will lead the effort. She and her colleagues will use next-generation sequencing, a technique that captures entire genome sequences, to identify genetic links to colorectal cancer.

"This is an important step, to look at much of the genetic variation across the entire genome. We didn't have the opportunity to study this in the past with the technologies we had before," Peters said. "We are now able to investigate millions of common and rare variants across the genome. Next-generation sequencing is becoming more readily available to look at these variants on a large scale." Colorectal cancer is the third most common and second deadliest cancer in the U.S., killing more than 50,000 every year. About one-third of these cancers can be attributed to heritable factors, meaning genetic mutations play a role in the cancer's development. Some of these genetic variations can also affect a person's susceptibility to environmental risk factors. For example, smoking increases the risk of colorectal cancer, but it's possible that certain genetic factors in combination with smoking could even further increase that risk.

For the past four years, Peters and colleagues have been studying the genes linked to colorectal cancer through the Genetics and Epidemiology of Colorectal Cancer Consortium, a collaboration involving researchers from North America, Australia and Europe who have pooled data from approximately 40,000 study participants, approximately half of whom have colorectal cancer. The Hutchinson Center houses GECCO's coordinating center and Peters is its principal investigator.

Due to the infrastructure the team already has built and the knowledge gained from GECCO, they are well equipped for this next stage of work on heritable risk factors for colorectal cancer.

Peters' new study will use next-generation sequencing to reveal entire genome sequences of a subset of GECCO's samples. Her study is among the first NCI-funded projects to use this technology on such a large sample set.

Peters' past studies have also looked at genetic links to colorectal cancer in these same study participants, but using the traditional means of genotyping allowed her group to identify only the most common variants and only certain types of mutations. Next-generation sequencing will capture more rare variants and many more types of genetic irregularities that could be linked to heritable factors of colorectal cancer.

Identifying rare genetic variants involved in colorectal cancer could ultimately help everyone with or at risk for this disease, Peters said. Knowing which genes play a role in triggering the cancer will lead to a better understanding of how the cancer develops and could ultimately lead to improved drug development.

Peters' and other researchers' work has identified about 20 different common genetic links to colorectal cancer, which explains about 8 to 10 percent of inherited colorectal cancers. "Our new grant will allow us to identify some of the missing heritability that has not been found so far," Peters said.

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Colorectal cancer genetics research gets $13 million boost

Recommendation and review posted by Bethany Smith

ST. FRANCIS, Wis. There was a time when Marquis Daniels thought he would never play again. Now, after recovering from a spinal cord injury he suffered in February 2011 and playing out the rest of last season in a reserve role in Boston, the veteran guard has signed with the Milwaukee Bucks -- likely filling the team's final roster spot for the upcoming season.

Daniels averaged just 3.2 points in 38 games with the Boston Celtics last season, but he played a key role off the bench on defense due to his ability to guard quick point guards and also longer wing players. At a Bucks workout last week, Daniels, 31, said he wants to be known primarily as an unselfish player the kind of player who will play defense and create for his teammates, first and foremost.

But for now, he's just happy to be a professional basketball player at all. After a collision on the court resulted in a bruised spinal cord which was made worse by a preexisting condition making him more susceptible to neck or spinal injuries, Daniels said there were questions about his ability to return to the court.

"Once a couple injuries happened, they were like, 'You can't play no more,'" he said. "I was like, 'I'm fine. I can walk.' My doctor gave me the surgery and said I could play again."

After the surgery, Daniels said he felt some of his skills on the court came easier than they had in the past.

"Actually, I feel so much better now," Daniels said. "I wish I would have known earlier in my career. My strength and my grip and everything is a lot better than it had been in the past."

With a healthy Daniels, the Bucks get a versatile player who can defend multiple positions something their defense desperately needed, considering how small in stature Milwaukee's guards are, collectively. Daniels' spot on the team may make it more difficult for rookie Doron Lamb to get minutes, but for a backcourt desperate for defense, Daniels' signing was indeed necessary.

Daniels' deal is expected to be a one-year contract, but the details of the contract have not yet been released by the Bucks.

Follow Ryan Kartje on Twitter.

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Bucks fill out roster with ex-Celtics swingman

Recommendation and review posted by sam

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/xwcbjb/applied) has announced the addition of John Wiley and Sons Ltd's new book "Applied Statistics for Network Biology. Quantitative and Network Biology (VCH)" to their offering.

This book introduces a number of cutting edge statistical methods which can be used for the analysis of genomic, proteomic and metabolomic data sets. In particular in the field of systems biology, researchers are trying to analyze asmuch data as possible in a given biological system (such as a cell or an organ). The appropriate statistical evaluation of these large scale data is critical for the correct interpretation and different experimental approaches require different approaches for the statistical analysis of these data. This book is written by biostatisticians and mathematicians but aimed at experimental researcher as well as computational biologists who often lack an appropriate background in statistical analysis.

Key Topics Covered:

MODELING, SIMULATION AND MEANING OF GENE NETWORKS.

Network Analysis to Interpret Complex Phenotypes

Stochastic Modelling of Regulatory Networks

Modeling eQTL in Multiple Populations

INFERENCE OF GENE NETWORKS.

Transcriptional Network Inference based on Information Theory

Continue reading here:
Research and Markets: Applied Statistics for Network Biology: Quantitative and Network Biology (VCH)

Recommendation and review posted by Bethany Smith

25.09.2012 - (idw) Julius-Maximilians-Universitt Wrzburg

Many genes are suspected of being involved in the development of attention deficit hyperactivity disorder (ADHD). A Franco-German research group has now examined the role of one of these more closely and discovered clear indications of its complicity. Its scientific name is lphn3. In humans, this gene lies on chromosome 4 and codes the protein latrophilin 3, which may play a role as a synaptic protein and receptor in the brain when the typical characteristics of attention deficit hyperactivity disorder emerge: people affected struggle to focus their attention over longer periods, they are easily distracted, they tire quickly, they often react impulsively, and they demonstrate obvious motor restlessness.

Focus on the latrophilin 3 gene

Latrophilin 3 has long been suspected of being partly responsible for the typical characteristics of ADHD. Though, not all that much is known to date about its role within the physiological processes of the nervous system, says Professor Klaus-Peter Lesch.

Lesch is Chairman of the Department of Molecular Psychiatry and Spokesman for the ADHD Clinical Research Group at the University of Wrzburgs Department of Psychiatry, Psychosomatics, and Psychotherapy. He has had his sights on this protein for a few years now. And he is not alone: Researchers from the USA and Spain have recently shown that a particular variant of the latrophilin 3 gene is frequently found in the genetic material of patients who are still suffering from ADHD in adulthood, says Lesch. What is more, the gene has also been identified as one of a total of 86 risk genes that are suspected of triggering drug dependency. The occurrence of drug dependency is above average in ADHD patients.

Experiments on zebrafish larvae

To improve understanding of the role that latrophilin 3 plays in the development of ADHD symptoms, Lesch and scientists from the Institute of Neurobiology in Gif-sur-Yvette, France, conducted experiments with zebrafish larvae. Zebrafish have now become the standard model in science for examining the genetic fundamentals of brain development and behavior, explains Lesch.

In their experiments, the researchers inhibited the lphn3 gene during a particular development phase and then examined the behavior of the fish larvae. They concentrated primarily on the movement activity of the larvae as an easily measurable expression of motor restlessness.

The results

The outcome: We observed a significant increase in swimming distances and average speed in these fish larvae compared to a control group, write the authors. This effect was also evident during the night-time sleep phases in the same way as human ADHD patients can demonstrate hyperactivity symptoms in their sleep.

See more here:
ADHD: A gene makes fish larvae hyperactive

Recommendation and review posted by Bethany Smith

LEXINGTON, Mass., Sept. 26, 2012 /PRNewswire/ --Shire plc (LSE: SHP; NASDAQ: SHPG), today announced the appointment of Frederic Chereau as Senior Vice President and Franchise Lead, Angioedema, for its Human Genetic Therapies (HGT) business. In this role, Frederic will oversee the development and execution of the global strategy for the angioedema franchise. He will report to Sylvie Gregoire, President of Shire HGT. Frederic will be based in Shire's office in Lexington, Massachusetts.

"Frederic brings a wealth of experience from top pharmaceutical and biotech companies to Shire HGT, and we know he will be an important asset as we continue to grow and develop our Angioedema Franchise," said Sylvie Gregoire, President, Shire HGT. "With our recent strategic hires, we continue to strengthen our leadership team at HGT, and Frederic will support our goal of helping those with rare diseases lead better lives."

Frederic was previously President and CEO of Pervasis Therapeutics, which was recently acquired by Shire Regenerative Medicine. Prior to Pervasis, he spent nine years with Genzyme Corporation where he held a number of positions of increasing responsibility in Europe and the US, including Vice President and General Manager, leading the company's global cardiovascular business unit. Frederic began his career with Hemotech in France where he held various sales and marketing positions.

Frederic is currently a Member of the Board of Directors of the French American Chamber of Commerce of New England and a Member of Strategic Advisory Board of the La Rochelle Business School. Fluent in both French and English, Frederic holds a Bachelor's Degree in Physics from the University of Paris, a Master's Degree in Business Administration from La Rochelle Business School and an Executive MBA from INSEAD.

Notes to editors

Shire enables people with life-altering conditions to lead better lives.

Through our deep understanding of patients' needs, we develop and provide healthcare in the areas of:

as well as other symptomatic conditions treated by specialist physicians.

We aspire to imagine and lead the future of healthcare, creating value for patients, physicians, policymakers, payors and our shareholders.

"SAFE HARBOR" STATEMENT UNDER THE PRIVATE SECURITIES LITIGATION REFORM ACT OF 1995

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Frederic Chereau Joins Shire Human Genetic Therapies to Lead Angioedema Franchise

Recommendation and review posted by Bethany Smith

SADDLE BROOK, N.J., Sept. 25, 2012 /PRNewswire/ -- In a study published by the journal Nature on Sunday, scientists evaluated breast cancer from a genetic perspective and found distinct genetic differences in patients' tumors. The results of the research point to the fact that analyzing genetics is not only helpful for cancer research, but imperative. Based on the study, scientists conclude that breast cancer can be broken down into four different subtypes. Scientists hope to develop more efficient preventions and treatments for the disease based on the genomes studied.

Genetic Testing Laboratories Inc. offers a DNA test that highlights possible predispositions to some of the most ubiquitous diseases and conditions -- breast cancer included. The company specializes in DNA tests, covering a multitude of specialty tests including ancestral and paternity testing. As the most recent research shows, breast cancer is identifiable through biological details present. Genetic factors undoubtedly influence the onset of breast cancer as well as the treatments necessary to impede the spread of the disease.

As Breast Cancer Awareness Month approaches, people acknowledge the impact the disease has on many families worldwide. Stefan A. Long, Executive Director of GTL continues to stress the importance of taking preventative action:

"Our Genetic Predisposition Test offers a private, convenient way for people to understand and assess their genome. Our test covers 25 genetic predispositions to diseases that plague millions of Americans every year, and will continue to do so unless we take preventative action."

According to the National Cancer Institute, children with one parent carrying the autosomal dominant genetic predisposition have a 50 percent chance of inheriting a predisposition to breast cancer. Similarly, based on self-reports and independently verified cases, 83 to 97 percent of those diagnosed with breast cancer have a family history of the disease. Because genetics so strongly contribute to the likelihood of a positive breast cancer diagnosis, it is crucial to take action through education and preventative measures.

"The main goal of our DNA Predisposition Test is to help people make informed decisions based on their genetics. While it's impossible to control your genes, it's possible to make changes that keep genetic predispositions at bay," says Long.

To learn more about GTL, visit http://www.gtldna.com.

See the article here:
Breakthrough Research Emphasizes Importance Of Genetics In Breast Cancer

Recommendation and review posted by Bethany Smith

(SACRAMENTO, Calif.) - Deborah K. Lieu, a stem cell scientist in cardiovascular medicine at UC Davis Health System, has received a $1.3 million research grant from the California Institute for Regenerative Medicine (CIRM) to develop stem cells that could serve as a biological alternative to the electronic pacemakers that people now use to regulate heart rhythm.

According to Lieu, each year 350,000 cardiology patients with abnormal heart rhythms receive electronic pacemakers to maintain a normal heart beat. The devices, while effective, have several disadvantages, including limited battery life and poor response to changing heart rates, such as when a person is exercising. Lieu, who is working with colleague Nipavan Chiamvimonvat, the Roger Tatarian Endowed Professor of Cardiovascular Medicine at UC Davis, plans to examine ways to improve the generation of pacemaking cells using human-induced pluripotent stem cells (hiPSCs), potentially creating what she calls a "biopacemaker."

"There are more than 3 million patients around the country who are dependent on electronic pacemakers," said Lieu. "Each one costs about $58,000 to implant and requires follow-up surgery about every 5 to 10 years to change batteries. Creating a biopacemaker from stem cells would avoid the burden of battery replacement and provide the physiological benefit of enabling a person's heart to naturally adapt to a rising heart rate during activities such as exercise."

Lieu's grant was among more than two dozen projects that received support from state stem cell agency's governing board last week as part of CIRM's Basic Biology awards program. The funding focuses on basic research projects that can provide a better understanding about the fundamental mechanisms of stem cell biology and move researchers closer to knowing how best to use stem cells to help patients.

To create the pacemaking cells, Lieu and her colleagues plan to manipulate an ion channel (the SK channels in cardiac myocytes) to alter the calcium signaling mechanisms during hiPSC differentiation. Stem cell scientists create hiPSCs - typically from an adult cell such as a skin cell - by inducing a "forced" expression of specific genes. Once reprogrammed, the cells take on a variety of capabilities (becoming pluripotent) and offer a range of stem cell treatment possibilities.

Development of a biopacemaker could also benefit the one-in-20,000 infants and premature babies suffering from congenital heart-rhythm dysfunction who currently are not suitable candidates for electronic pacemakers. Infants are physically too small for the device. A biological pacemaker could fit with their small stature and then grow as the infant grows.

Collaborating with Lieu and Chiamvimonvat on the research project will be Jan Nolta, director of the UC Davis Institute for Regenerative Cures; Donald Bers, chair of the UC Davis Department of Pharmacology; and James Chan, assistant professor in the Department of Pathology and affiliated with the NSF Center for Biophotonics Science and Technology at UC Davis.

UC Davis is playing a leading role in regenerative medicine, with nearly 150 scientists working on a variety of stem cell-related research projects at campus locations in both Davis and Sacramento. The UC Davis Institute for Regenerative Cures, a facility supported by the California Institute for Regenerative Medicine (CIRM), opened in 2010 on the Sacramento campus. This $62 million facility is the university's hub for stem cell science. It includes Northern California's largest academic Good Manufacturing Practice laboratory, with state-of-the-art equipment and manufacturing rooms for cellular and gene therapies. UC Davis also has a Translational Human Embryonic Stem Cell Shared Research Facility in Davis and a collaborative partnership with the Institute for Pediatric Regenerative Medicine at Shriners Hospital for Children Northern California. All of the programs and facilities complement the university's Clinical and Translational Science Center, and focus on turning stem cells into cures. For more information, visit http://www.ucdmc.ucdavis.edu/stemcellresearch.

More here:
Pacemaker from Stem Cells Receives Research Funding

Recommendation and review posted by simmons

Public release date: 25-Sep-2012 [ | E-mail | Share ]

Contact: Heather Buschman hbuschman@sanfordburnham.org 858-795-5343 Sanford-Burnham Medical Research Institute

LA JOLLA, Calif., September 25, 2012 The process researchers use to generate induced pluripotent stem cells (iPSCs)a special type of stem cell that can be made in the lab from any type of adult cellis time consuming and inefficient. To speed things up, researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) turned to kinase inhibitors. These chemical compounds block the activity of kinases, enzymes responsible for many aspects of cellular communication, survival, and growth. As they outline in a paper published September 25 in Nature Communications, the team found several kinase inhibitors that, when added to starter cells, help generate many more iPSCs than the standard method. This new capability will likely speed up research in many fields, better enabling scientists around the world to study human disease and develop new treatments.

"Generating iPSCs depends on the regulation of communication networks within cells," explained Tariq Rana, Ph.D., program director in Sanford-Burnham's Sanford Children's Health Research Center and senior author of the study. "So, when you start manipulating which genes are turned on or off in cells to create pluripotent stem cells, you are probably activating a large number of kinases. Since many of these active kinases are likely inhibiting the conversion to iPSCs, it made sense to us that adding inhibitors might lower the barrier."

According to Tony Hunter, Ph.D., professor in the Molecular and Cell Biology Laboratory at the Salk Institute for Biological Studies and director of the Salk Institute Cancer Center, "The identification of small molecules that improve the efficiency of generating iPSCs is an important step forward in being able to use these cells therapeutically. Tariq Rana's exciting new work has uncovered a class of protein kinase inhibitors that override the normal barriers to efficient iPSC formation, and these inhibitors should prove useful in generating iPSCs from new sources for experimental and ultimately therapeutic purposes." Hunter, a kinase expert, was not involved in this study.

The promise of iPSCs

At the moment, the only treatment option available to many heart failure patients is a heart transplant. Looking for a better alternative, many researchers are coaxing stem cells into new heart muscle. In Alzheimer's disease, researchers are also interested in stem cells, using them to reproduce a person's own malfunctioning brain cells in a dish, where they can be used to test therapeutic drugs. But where do these stem cells come from? Since the advent of iPSC technology, the answer in many cases is the lab. Like their embryonic cousins, iPSCs can be used to generate just about any cell typeheart, brain, or muscle, to name a fewthat can be used to test new therapies or potentially to replace diseased or damaged tissue.

It sounds simple enough: you start with any type of differentiated cell, such as skin cells, add four molecules that reprogram the cells' genomes, and then try to catch those that successfully revert to unspecialized iPSCs. But the process takes a long time and isn't very efficientyou can start with thousands of skin cells and end up with just a few iPSCs.

Inhibiting kinases to make more iPSCs

Zhonghan Li, a graduate student in Rana's laboratory, took on the task of finding kinase inhibitors that might speed up the iPSC-generating process. Scientists in the Conrad Prebys Center for Chemical Genomics, Sanford-Burnham's drug discovery facility, provided Li with a collection of more than 240 chemical compounds that inhibit kinases. Li painstakingly added them one-by-one to his cells and waited to see what happened. Several kinase inhibitors produced many more iPSCs than the untreated cellsin some cases too many iPSCs for the tiny dish housing them. The most potent inhibitors targeted three kinases in particular: AurkA, P38, and IP3K.

Read more from the original source:
Making it easier to make stem cells

Recommendation and review posted by Bethany Smith

ScienceDaily (Sep. 25, 2012) The process researchers use to generate induced pluripotent stem cells (iPSCs) -- a special type of stem cell that can be made in the lab from any type of adult cell -- is time consuming and inefficient. To speed things up, researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) turned to kinase inhibitors. These chemical compounds block the activity of kinases, enzymes responsible for many aspects of cellular communication, survival, and growth.

As they outline in a paper published September 25 in Nature Communications, the team found several kinase inhibitors that, when added to starter cells, help generate many more iPSCs than the standard method. This new capability will likely speed up research in many fields, better enabling scientists around the world to study human disease and develop new treatments.

"Generating iPSCs depends on the regulation of communication networks within cells," explained Tariq Rana, Ph.D., program director in Sanford-Burnham's Sanford Children's Health Research Center and senior author of the study. "So, when you start manipulating which genes are turned on or off in cells to create pluripotent stem cells, you are probably activating a large number of kinases. Since many of these active kinases are likely inhibiting the conversion to iPSCs, it made sense to us that adding inhibitors might lower the barrier."

According to Tony Hunter, Ph.D., professor in the Molecular and Cell Biology Laboratory at the Salk Institute for Biological Studies and director of the Salk Institute Cancer Center, "The identification of small molecules that improve the efficiency of generating iPSCs is an important step forward in being able to use these cells therapeutically. Tariq Rana's exciting new work has uncovered a class of protein kinase inhibitors that override the normal barriers to efficient iPSC formation, and these inhibitors should prove useful in generating iPSCs from new sources for experimental and ultimately therapeutic purposes." Hunter, a kinase expert, was not involved in this study.

The promise of iPSCs

At the moment, the only treatment option available to many heart failure patients is a heart transplant. Looking for a better alternative, many researchers are coaxing stem cells into new heart muscle. In Alzheimer's disease, researchers are also interested in stem cells, using them to reproduce a person's own malfunctioning brain cells in a dish, where they can be used to test therapeutic drugs. But where do these stem cells come from? Since the advent of iPSC technology, the answer in many cases is the lab. Like their embryonic cousins, iPSCs can be used to generate just about any cell type -- heart, brain, or muscle, to name a few -- that can be used to test new therapies or potentially to replace diseased or damaged tissue.

It sounds simple enough: you start with any type of differentiated cell, such as skin cells, add four molecules that reprogram the cells' genomes, and then try to catch those that successfully revert to unspecialized iPSCs. But the process takes a long time and isn't very efficient -- you can start with thousands of skin cells and end up with just a few iPSCs.

Inhibiting kinases to make more iPSCs

Zhonghan Li, a graduate student in Rana's laboratory, took on the task of finding kinase inhibitors that might speed up the iPSC-generating process. Scientists in the Conrad Prebys Center for Chemical Genomics, Sanford-Burnham's drug discovery facility, provided Li with a collection of more than 240 chemical compounds that inhibit kinases. Li painstakingly added them one-by-one to his cells and waited to see what happened. Several kinase inhibitors produced many more iPSCs than the untreated cells -- in some cases too many iPSCs for the tiny dish housing them. The most potent inhibitors targeted three kinases in particular: AurkA, P38, and IP3K.

Working with the staff in Sanford-Burnham's genomics, bioinformatics, animal modeling, and histology core facilities -- valuable resources and expertise available to all Sanford-Burnham scientists and the scientific community at large -- Rana and Li further confirmed the specificity of their findings and even nailed down the mechanism behind one inhibitor's beneficial actions.

More:
Making it easier to make stem cells: Kinase inhibitors lower barrier to producing stem cells in lab

Recommendation and review posted by Bethany Smith

SEATTLE & SAN DIEGO--(BUSINESS WIRE)--

NanoString Technologies, Inc., a privately held provider of life science tools for translational research and developer of molecular diagnostics, today announced the launch of a Single Cell Gene Expression application that provides researchers with a flexible and highly sensitive approach to discovering differences in cell-to-cell gene expression profiles. The new Single Cell Gene Expression application allows a digital measurement of the expression of up to 800 unique transcripts, and offers superior performance to standard single cell microfluidic qPCR protocols. The single tube, highly multiplexed assay eliminates sample splitting and frees researchers from the constraints of fixed-format consumables employed by existing technologies, allowing them to assay genes based on the biology.

In side-by-side gene expression experiments using identical total RNA samples, reflecting RNA yields from 1 to 100 cells, the nCounter protocol demonstrated superior sensitivity compared to microfluidic qPCR. Specifically, the nCounter Single Cell Assay was able to quantify the expression of 70 percent more transcripts than the Fluidigm BioMark HD System run by a commercial service provider using an optimized single cell protocol (Citri et. al. , Nature Protocols (2012) Vol. 7(1):118-127). Results of this study will be presented today at the 2012 Select Sciences Single Cell Analysis Summit in San Diego.

Our Single Cell Assay allows cancer, stem cell and immunology researchers to profile gene expression with unmatched sensitivity and flexibility, said Barney Saunders, Ph.D., Senior Vice President and General Manager, Life Sciences at NanoString Technologies. Researchers who currently enjoy the digital precision, ease-of-use and ability to run challenging sample types such as FFPE tissue, can now utilize the nCounter system for more experiments using as little as 10pg of total RNA or even single cells.

Brad Gray, President and CEO of NanoString commented: Single cell gene expression is an area of rapidly growing interest from researchers who are already using nCounter technology as well as those who are getting to know our technology for the first time, said Brad Gray, President & CEO of NanoString Technologies. We are committed to constantly expanding the nCounter Analysis System application suite, and this new offering is just one of many new capabilities being developed by our R&D team.

The nCounter Analysis System is a fully automated, multi-application digital detection and counting system with a very simple workflow. The nCounter system has been employed in basic and translational research since it was first introduced in 2008. NanoString provides assays for gene expression, miRNA analysis and copy number variation.

Researchers attending the Single Cell Analysis Summit in San Diego can learn more about the new Single Cell Gene Expression application by attending NanoStrings workshop on Tuesday, September 25, 2012 from 12:45 1:30pm Pacific Standard Time or by visiting the NanoString booth. More information is available at http://www.NanoString.com.

About NanoString Technologies, Inc.

NanoString Technologies is a privately held provider of life science tools for translational research and developer of molecular diagnostics. The companys nCounter Analysis System is the first and only technology platform to deliver highly multiplexed, direct profiling of individual molecules in a single reaction without amplification. The nCounter Analysis System offers a cost-effective way to easily profile hundreds of gene transcripts, copy number variations, or miRNAs simultaneously with high sensitivity and precision. The companys technology enables a wide variety of basic research and translational medicine applications, including biomarker discovery and validation. NanoString is also developing the technology for use in molecular diagnostics.

The nCounter platform is for Research Use Only. Not for use in diagnostic procedures.

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NanoString Launches Single Cell Gene Expression Solution for its nCounter® Analysis System

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By Peggy McCarthy, Conn. Health I-Team Writer

A recent study that discovered a genetic link to Post Traumatic Stress Disorder (PTSD) could ultimately lead to breakthroughs in treatment or prevention, but advances are at least a decade away because additional research is needed, according to the studys lead researcher.

Ultimately, there could be significant implications for the military where PTSD prevalence is estimated to be at least twice that of the general population because of severe trauma associated with combat duty.

Were onto something important, said Mark W. Miller, Ph.D, the researcher. Miller is a clinical research psychologist in Boston for the VAs National PTSD Center, and is an associate professor of psychiatry at Boston University School of Medicine. But he said studies with more participants that replicate his findings are needed before talking about policy implications or screening or anything like that.

Dr. Joel Gelernter, a Yale psychiatrist and chief of the VAs Molecular Genetics lab in West Haven, was not involved in this study, but does research on the genetics of PTSD. He said if the Boston study results are replicated in future research, it opens the possibility for much-needed, new drug development for treatment of PTSD.

Drug development is a very promising avenue for research if this line of evidence pans out, Gelernter said, adding that now, there is nothing really fantastic available to treat PTSD.

According to Miller, the study, which began in 2006, is the first of its kind for PTSD because it was genome-wide, which means it analyzed the entire genetic makeup of participants, giving researchers 1.5 million pieces of genetic data per person.

It was conducted by the Department of Veterans Affairs National Center for PTSD and the BU School of Medicine. Researchers interviewed and took DNA samples from about 500 participants comprised of veterans and their spouses or partners. All participants have experienced trauma, and about half have PTSD.

Participants with PTSD were found to share a variant of a gene known in scientific shorthand as RORA. The same variant had previously been linked to a range of other psychiatric conditions, including bipolar disorder, autism, depression and attention deficit hyperactivity disorder.

Patrick Bellon, executive director of the advocacy group, Veterans For Common Sense, said the study is significant for veterans. We are glad to see research that furthers our understanding and possible treatment options for PTSD, he said. This research is more important than ever with approximately 1 million new veterans returning to civilian life in the next five years. A complete understanding of this invisible wound of war, which afflicts at least 20 percent of veterans will be crucial to a successful transition for our service members.

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PTSD: Genetic link could lead to vet drug treatment

Recommendation and review posted by Bethany Smith