Archive for the ‘Gene Therapy Research’ Category

July 2, 2012

Lawrence LeBlond for redOrbit.com Your Universe Online

At least three genetic mutations found in the human brain have been linked to enlarged brain size (megalencephaly) and a number of disorders, including cancer, epilepsy and autism, according to new research led by Seattle Childrens Research Institute.

The mutations were found in the genes AKT3, PIK3R2 and PIK3CA. The mutations were also linked to vascular disorders and skin growth disorders, said the researchers. The study, published in the online edition of the journal Nature Genetics on June 24, offers important implications for the future of medicine through the research findings.

Study leaders, geneticist William Dobyns, MD, and Jean-Baptiste Rivire, PhD, discovered through their research additional proof that the genetic makeup of a person is not completely determined at the moment of conception. The new evidence ties in with previous research that recognized that genetic changes can occur after conception, although considered quite rare.

The researchers also discovered the genetic causes of these human diseases, including developmental disorders, may also directly lead to new possibilities for treatment.

AKT3, PIK3R2 and PIK3CA are found in all humans, but only when they are mutated do they lead to the diseases and disorders. PIK3CA is known as a cancer-related gene, and appears to make cancer more aggressive. Boston Childrens Hospital researchers recently found a common link between the PIK3CA gene and a rare condition known as CLOVES syndrome.

James Olson, MD, PhD, a pediatric cancer expert at Seattle Childrens and Fred Hutchinson Cancer Research Center acknowledged the two decades-worth of work that led to the findings.

This study represents ideal integration of clinical medicine and cutting-edge genomics, said Olson, who was not involved in the latest research. I hope and believe that the research will establish a foundation for successfully using drugs that were originally developed to treat cancer in a way that helps normalize intellectual and physical development of affected children.

He noted that the team did an excellent job by deep sequencing exceptionally rare familial cases and unrelated cases to identify the culprit pathway. He further noted that the three genes all encode core components of the phosphatidylinositol-3-kinase/AKT pathway, the culprit pathway, as referenced by his work.

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Gene Mutations Associated With Enlarged Brain Size, Disorders

Newswise Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor. The validation study also uncovered an association between the same rare genetic variant and improved rates of survival for patients with glioma.

The study, the first to confirm a rare susceptibility variant in glioma, appeared in a recent issue of the Journal of Medical Genetics, a journal published by the British Medical Association.

"Glioma is a poorly understood cancer with high morbidity and devastating outcomes," said study lead author Kathleen M. Egan, Sc.D., interim program leader of Cancer Epidemiology and vice chair of the Department of Cancer Epidemiology. "However, the discovery of the association of the TP53 genetic variant rs78378222 with glioma provides new insights into these tumors and offers better prospects for identifying people at risk."

According to the authors, their study "genotyped' the single nucleotide polymorphism (SNP, or "snip") rs78378222 in TP53, an important tumor suppressor gene. The researchers said the SNP disrupts the TP53 signal and, because of its activity, has been linked to a variety of cancers. This study linked the presence of the rare form of rs78378222 to deadly glioma.

The researchers conducted a large, clinic-based, case-control study of individuals age 18 and older with a recent glioma diagnosis. A total of 566 glioma cases and 603 controls were genotyped for the rs78378222 variant.

Study results reveal that the odds of developing glioma were increased 3.5 times among the rare variant allele carriers. However, when researchers examined the impact of rs78378222 on survival, they found an approximately 50 percent reduction in death rates for those who were variant allele carriers.

"That the variant increased survival chances was an unexpected finding," Egan said. "It is tempting to speculate that the presence of the risk allele could direct tumor development into a less aggressive path."

The researchers concluded that their study results "may shed light on the etiology and progression of these tumors."

In addition to researchers from Moffitt, researchers from The University of Alabama at Birmingham, Emory School of Medicine and Vanderbilt University participated in the study and co-authored the paper.

The study was supported by funding from Public Health Service Grants R01CA11674 from the National Cancer Institute and the U.S. Department of Health and Human Services, as well as institutional funding from Moffitt and the Vanderbilt-Ingram Cancer Center.

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Moffitt Cancer Center Study Validates Activity of Rare Genetic Variant in Glioma

ScienceDaily (July 2, 2012) Researchers at Moffitt Cancer Center working with colleagues at three other institutions have validated a link between a rare genetic variant and the risk of glioma, the most common and lethal type of brain tumor. The validation study also uncovered an association between the same rare genetic variant and improved rates of survival for patients with glioma.

The study, the first to confirm a rare susceptibility variant in glioma, appeared in a recent issue of the Journal of Medical Genetics, a journal published by the British Medical Association.

"Glioma is a poorly understood cancer with high morbidity and devastating outcomes," said study lead author Kathleen M. Egan, Sc.D., interim program leader of Cancer Epidemiology and vice chair of the Department of Cancer Epidemiology. "However, the discovery of the association of the TP53 genetic variant rs78378222 with glioma provides new insights into these tumors and offers better prospects for identifying people at risk."

According to the authors, their study "genotyped' the single nucleotide polymorphism (SNP, or "snip") rs78378222 in TP53, an important tumor suppressor gene. The researchers said the SNP disrupts the TP53 signal and, because of its activity, has been linked to a variety of cancers. This study linked the presence of the rare form of rs78378222 to deadly glioma.

The researchers conducted a large, clinic-based, case-control study of individuals age 18 and older with a recent glioma diagnosis. A total of 566 glioma cases and 603 controls were genotyped for the rs78378222 variant.

Study results reveal that the odds of developing glioma were increased 3.5 times among the rare variant allele carriers. However, when researchers examined the impact of rs78378222 on survival, they found an approximately 50 percent reduction in death rates for those who were variant allele carriers.

"That the variant increased survival chances was an unexpected finding," Egan said. "It is tempting to speculate that the presence of the risk allele could direct tumor development into a less aggressive path."

The researchers concluded that their study results "may shed light on the etiology and progression of these tumors."

In addition to researchers from Moffitt, researchers from The University of Alabama at Birmingham, Emory School of Medicine and Vanderbilt University participated in the study and co-authored the paper.

The study was supported by funding from Public Health Service Grants R01CA11674 from the National Cancer Institute and the U.S. Department of Health and Human Services, as well as institutional funding from Moffitt and the Vanderbilt-Ingram Cancer Center.

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Activity of rare genetic variant in glioma validated

Douglas Kell has been reappointed as chief executive and deputy chair of the UK Biotechnology and Biological Sciences Research Council, the Minister for Universities and Science David Willetts said this week.

Kell has held the top post at BBSRC since 2008, and before that he was director of the Manchester Centre for Integrative Systems Biology. He also has served as director of research at the Institute of Biological Sciences at the University of Aberystwyth, and he was a founding director of Aber Instruments. His research has included a range of topics including systems biology, analytical chemistry, and biochemical and data modeling.

The Institute for Systems Biology has appointed Robert Lipshutz to be chief business officer and senior VP for strategic partnerships. Lipshutz spent nearly two decades at Affymetrix in various roles focusing on business development, licensing, diagnostics, and emerging markets, and most recently as senior VP for corporate development.

Verinata Health CEO Caren Mason has resigned but will continue to provide the company with consultative services. Mason joined Verinata in November 2010. She was previously the president and CEO of Quidel, president and CEO of MiraMedica, CEO of eMed Technologies, and general manager of GE Healthcare. The firm plans to recruit a new CEO.

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Bioinformatics 'Cacophony', Genomics of Infectious Disease Research, Gene Patenting Wars Continue, More

PETALUMA, Calif.--(BUSINESS WIRE)--

Tegal Corporation (TGAL) today announced that it has signed a definitive agreement to acquire CollabRx, Inc., a privately held technology company in the rapidly growing market of interpretive content and data analytics for genomics-based medicine.

CollabRx offers cloud-based expert systems that provide clinically relevant interpretive knowledge to institutions, physicians, researchers and patients for genomics-based medicine in cancer and other diseases to inform health care decision making. With access to approximately 50 clinical and scientific advisors at leading academic institutions and a suite of tools and processes that combine artificial intelligence-based analytics with proprietary interpretive content, the company is well positioned to participate in the $300 billion value-added big data opportunity in the US health care market (as reported by McKinsey Global Institute), over half of which specifically targets areas in cancer and cancer genomics.1

The Chief Executive Officers of the two constituent companies, Thomas Mika of Tegal and James Karis of CollabRx, plan to serve as co-CEOs of the combined, publicly traded company, with headquarters in San Francisco, CA. Tegal entered into an employment agreement with Mr. Karis that will become effective at the closing, and Mr. Karis will also be appointed to Tegals Board of Directors. Tegal will continue to operate under its current name and ticker symbol for the time being, but plans to seek stockholder approval at its upcoming annual meeting in September 2012 for an amendment to its Certificate of Incorporation, changing its corporate name to CollabRx, Inc.

Originally founded in 2008 by Silicon Valley Internet pioneer Jay (Marty) Tenenbaum, CollabRx has developed clinical advisory networks, expert systems, proprietary tools and processes, and a pipeline of commercial data products and applications (apps) for cancer. CollabRx Therapy Finders, its first commercial product, provides sophisticated, credible, personalized, and actionable information to physicians and patients for rapidly determining which medical tests, therapies, and clinical trials may be considered in cancer treatment planning with a specific emphasis on the tumor genetic profile.

CollabRx Therapy Finders are web-based apps that serve as one type of user interface to access proprietary CollabRx content. CollabRx content is dynamically updated and organized in a knowledgebase that includes information on molecular diagnostics, medical tests, clinical trials, drugs, biologics and other information relevant for cancer treatment planning. Capturing how highly respected practicing physicians use this information in the clinical setting further refines the knowledgebase.

Upon the acquisitions closing, Tegal will issue an aggregate of 236,433 shares of common stock, representing 14% of Tegals total shares outstanding prior to the closing, to former CollabRx stockholders in exchange for 100% of the capital stock of CollabRx, Inc. Tegal and certain former CollabRx stockholders will enter into a Stockholders Agreement providing for, among other things, registration rights, transfer restrictions and voting and standstill agreements. Tegal also will assume $500,000 of existing CollabRx indebtedness through the issuance of 5-year promissory notes in substitution for outstanding notes previously issued by CollabRx. In addition, Tegal will grant a total of 368,417 RSUs and options as inducement grants to newly hired management and employees, all subject to four-year vesting and other restrictions.

Medicine is entering a new era of low cost genome sequencing and the proliferation of personalized treatments based on specific genetic mutations, said James Karis, CEO of CollabRx. With the technology platform and expert system leadership position that CollabRx has developed over the past few years, we believe that the new company is in a position to lead the market for accurate, credible and current genomic information in the cancer space. We are excited to be joining the Tegal management team in a well-resourced, publicly-traded entity.

This acquisition marks both the successful conclusion of a transition process and the beginning of a new chapter for Tegal Corporation, said Thomas Mika, Tegals Chairman, President and CEO. We are excited to help drive the rapid growth of this market while we meet a critical and consequential human need. This is a mission Tegals board has embraced wholeheartedly. I am very pleased to be working with James Karis as Co-CEO and fellow director, and look forward, along with the entire team at CollabRx and Tegal, to building a dynamic company in a new era of genomic medicine.

About Tegal

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Tegal Corporation to Acquire CollabRx, Inc.

MENLO PARK, Calif.--(BUSINESS WIRE)--

Two papers in Nature Biotechnology, both published online on July 1, 2012 highlight the unique value for de novo genome assembly provided by the PacBioRS High Resolution Genetic Analyzer from Pacific Biosciences of California, Inc. (PACB).

Due to the inherent limitations of commonly used short-read sequencing technologies, the genomes of very few species have been completely sequenced, or finished. PacBios single molecule, real-time (SMRT) technology offers very long reads that reduce the number of contiguous sequences, or contigs, to simplify and improve genome assembly. These multi-kilobase reads allow scientists to sequence through long repeat regions and to identify structural variation, which are common in genomes but not possible to resolve completely with short-read platforms. As a result, PacBio long reads can lead to final assemblies that matchand in some cases even exceedthe quality that previously counted as finished, approaching the gold standard of a perfect genome.

In the publication from Koren et al., titled Hybrid error correction and de novo assembly of single-molecule sequencing reads, the authors demonstrate a new pipeline for assembly of the parrot genome. Using PacBio long reads in combination with high-accuracy short reads and an updated version of Celera Assembler, they assembled for the first time regulatory regions of genes involved in vocal learning circuits. The hybrid reads represent the most complete assembled bird genome now available.

"Repetitive regions are the biggest impediment to all assembly algorithms and sequencing technologies as they introduce ambiguity in the reconstruction of the genome, said Sergey Koren, Ph.D., Scientist of Bioinformatics at the National Biodefense Analysis and Countermeasures Center. Using the long reads we have access to longer sequences, which increases the probability of spanning a repeat and leads to better assemblies at lower depths than short reads.

A separate publication from Bashir et al., titled A hybrid approach for the automated finishing of bacterial genomes, describes combining contigs from second-generation sequencing technologies with PacBio sequence data for the cholera strain responsible for the 2010 Haitian outbreak. The authors show that their hybrid assembly resolved complex regions with several repeats and suggest that the approach offers a solution for rapid identification and assembly of full microbial genomes.

The publication of these two studies is evidence of how our long-read technology is emerging as the gold standard for finishing genome assemblies and identifying, annotating and deciphering genomic structure, said Mike Hunkapiller, President and CEO at Pacific Biosciences. Moreover, investigators are finding creative ways to take advantage of the unique benefits provided by our SMRT sequencing and enabling scientific applications that are simply not possible with short-read sequencing platforms.

The Nature Biotechnology publication details are as follows:

For more information on de novo genome assembly with the PacBioRS, please visit our website at http://www.pacb.com/denovo.

About Pacific Biosciences

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Nature Biotechnology Publications Showcase Value of PacBio RS in De Novo Genome Assembly

Public release date: 2-Jul-2012 [ | E-mail | Share ]

Contact: Christine Bauquis christine@eshre.eu 32-499-258-046 European Society of Human Reproduction and Embryology

Istanbul, 2 July 2012: Preimplantation genetic diagnosis (PGD) for the breast cancer genes BRCA1/2 is now feasible and established, with good success rates for those treated, according to investigators from the reproduction, oncology and genetics centres of the university hospitals of Maastricht and Brussels. The results follow a review of the largest number of PGD treatments for BRCA1/2 in Europe and were presented today at the annual meeting of ESHRE (European Society of Human Reproduction and Embryology) by Professor Willem Verpoest from the Centre for Reproductive Medicine at Vrije Universiteit Brussel, Belgium.

Behind his vote of confidence lie 145 PGD cycles for BRCA1/2 mutations performed in 70 couples at the two centres (a mean of 2.1 cycles per woman). Almost 60% of the mutation carriers were female, two-thirds with a BRCA1 mutation. Just over one quarter (26.2%) of female carriers had undergone a prophylactic bilateral mastectomy.

Following IVF, 717 embryos were found suitable for genetic analysis, and of these 43.1% were diagnosed as affected by the mutation, with 40.7% unaffected and thus suitable for transfer (the remainder had an abnormal genotype or the analysis was inconclusive). Hence, 62.1% of the PGD cycles led to fresh embryo transfer - with 3.6% transferred from one or two frozen-thawed unaffected embryos - resulting in 42 pregnancies in 40 women. Pregnancy rates were 41.4% per fresh embryo transfer and 23.1% per frozen. The overall pregnancy rate was 29%.

The series also included three cases of PGD on embryos previously cryopreserved for fertility preservation prior to chemotherapy, and these too resulted in two ongoing pregnancies.

Two female BRCA1 carriers were diagnosed with breast cancer within three months of the PGD treatment, despite breast screening shortly before treatment. One had a history of breast cancer, the other patient hadn't. The former patient went on to have healthy twins three years after the second breast surgery and chemotherapy, and following frozen/thawed embryo transfer.

So far, PGD for BRCA1 and BRCA2 gene mutations has been considered controversial. While most PGD procedures are indicated to remove completely the risk of inherited sex-linked and single-gene diseases (such as cystic fibrosis) in the children of affected couples, PGD for the breast cancer mutations cannot remove the risk completely - because the 10% background risk of breast cancer remains, even after PGD. Moreover, breast and ovarian cancers are usually of late onset, with prevention and therapeutic options constantly improving - so the chances of successful treatment, and many years of healthy life, are high.

Nor is breast cancer inevitable for a woman (or man) carrying a BRCA1/2 mutation. The controversy thus rests on the fact that a mutation in the BRCA genes increases susceptibility to breast or ovarian cancer, but does not reflect an inevitability for developing the diseases. However, with female carriers of a mutation in either gene having a lifetime risk of 60-80% for breast cancer, and a risk of 30-60% (BRCA1) or 5-20% (BRCA2) for ovarian cancer, many authorities have recognised the gravity of the risk and accepted a BRCA gene mutation as an indication for PGD.

So far, only five pregnancies after PGD for BRCA1/2 have been reported since the first was described in 2008.(1) The slow uptake reflects not just the controversial nature of the procedure, but also concerns over patient selection and the safety of hormonal stimulation for IVF in women at risk themselves of breast and ovarian cancers.

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The prevention of hereditary breast and ovarian cancer by PGD is 'feasible'

WALTHAM, Mass.--(BUSINESS WIRE)--

Interleukin Genetics,Inc. (ILIU) which is pioneering the use of genetic testing for the prevention and improved management of certain chronic conditions, today announced that it has completed a financing for $3,000,000 with Delta Dental Plan of Michigan, Inc. The investment consists of the purchase of 500,000 shares of the Companys Series B convertible preferred stock. The Company expects to receive net proceeds of approximately $2.7 million after deducting fees and expenses. Each share of Series B preferred stock is convertible into approximately 21.86 shares of common stock reflecting a conversion price of $0.2745 per share. Delta Dental will obtain one board seat effective immediately replacing one of the Series A directors. BTIG LLC acted as the exclusive placement agent for the transaction.

"We are extremely pleased by the vote of confidence this transaction demonstrates by our current strategic partner Delta Dental Plan of Michigan," said Lewis H. Bender, Chief Executive Officer of Interleukin Genetics, Inc. Delta Dental of Michigan has supported the companys efforts to advance our unique periodontal disease susceptibility risk test, PST. We believe this financing makes a strong statement about our companys value to our partners and to our future potential. As new members to our Board of Directors, we are looking forward to our new investors input on our strategic objectives and business planning.

About Interleukin Genetics

Interleukin Genetics, Inc. (ILIU) develops and markets a line of genetic tests under the Inherent Health and PST brands. The products empower individuals to prevent certain chronic conditions and manage their existing health and wellness through genetic-based insights with actionable guidance. Interleukin Genetics leverages its research, intellectual property and genetic panel development expertise in metabolism and inflammation to facilitate the emerging personalized healthcare market. The Company markets its tests through partnerships with health and wellness companies, healthcare professionals and other distribution channels. Interleukin Genetics flagship products include its proprietary PST genetic risk panel for periodontal disease and tooth loss susceptibility sold through dentists, and the Inherent Health Weight Management Genetic Test that identifies the most effective diet and exercise program for an individual based on genetics. Interleukin Genetics is headquartered in Waltham, Mass. and operates an on-site, state-of-the-art DNA testing laboratory certified under the Clinical Laboratories Improvements Act (CLIA). For more information please visit http://www.ilgenetics.com.

Dental Plan of Michigan

Delta Dental of Michigan is a leader in the dental insurance industry. The Company is part of a group of affiliated companies that collectively is among the largest and oldest group dental benefits providers in the United States, covering 8.6 million people and paying out $2.2 billion in dental benefits as of the end of 2011.

Certain statements contained herein are forward-looking statements.Because such statements include risks and uncertainties, actual results may differ materially from those expressed or implied by such forward-looking statements.Factors that could cause actual results to differ materially from those expressed or implied by such forward-looking statements include, but are not limited to, those risks and uncertainties described in the Companys annual report on Form 10-K for the year ended December 31, 2011 and other filings with the Securities and Exchange Commission. The Company disclaims any obligation or intention to update these forward-looking statements.

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Interleukin Genetics Completes $3,000,000 Private Placement with Its Strategic Partner, Delta Dental Plan of Michigan

NEW YORK, July 2, 2012 /PRNewswire/ --Reportlinker.com announces that a new market research report is available in its catalogue:

http://www.reportlinker.com/p0922674/Gene-Therapy-Market-to-2018---Product-Development-Slowed-by-Clinical-Failures-Close-Regulatory-Surveillance-and-High-Compliance-Standards.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Biological_Therapy

Gene Therapy Market to 2018 - Product Development Slowed by Clinical Failures, Close Regulatory Surveillance and High Compliance Standards

This report is built using data and information sourced from proprietary databases, primary and secondary research, and in-house analysis by GBI Research's team of industry experts.

Gene therapies are biological compounds, which modify or replace disease-causing genes. These therapies are the new therapeutic class aimed at treating diseases associated with genetic mutations. Gene therapy promises to provide new treatments for a large number of inherited and acquired diseases. The basic concept of gene therapy is to introduce a piece of genetic material into target cells, which will result in either a cure for the disease or a slowdown in the progression of the disease. It involves the transfer of a functional gene copy into specific cells of an individual in order to repair a faulty gene copy. It may be used to replace a defective gene, or to introduce a new gene to cure a condition.

For example, mutations in genes on the X chromosome lead to X chromosome-linked genetic diseases such as Duchenne muscular dystrophy and hemophilia. Since males have only one copy of the genes from this chromosome, there is no other normal copy available to fulfill a defective gene's function which is present on the X chromosome. If the normal copy of the mutated gene is delivered in the nucleus externally through a delivery agent, the cells can produce the normal gene products and the disease would be treated.

From a commercial perspective, there is a huge unmet need in oncology and autoimmune diseases, amongst others, that could further drive growth of the pharmaceutical and biotech industry. The unmet need is largely driven by the lack of efficacious and safe therapeutic products based on conventional pharmaceutical and biotech research. Gene therapy is a new therapeutic category that has the potential to satisfy this unmet need, especially considering how efficacious and safe this therapeutic category is expected to be.

GBI Research's analysis suggests that therapies developed using gene therapy technology can address the majority of the unmet needs prevailing in the current pharmaceutical market. The inherent structure of gene therapies and their potential to replace the functions of defective genes make them highly effective to knockdown any gene that was previously unapproachable by conventional therapies. Gene therapies are poised to become the next most promising class of drugs in the pharmaceutical industry. Currently there are only three approved products, namely Gendicine, Oncorine and Rexin-G, with a collective market little above $2.8m. Since first movers always have the competitive edge, many large pharmaceutical and biotechnology companies have already commenced their R&D activities on gene therapies.

This report provides insights into the major unmet needs prevailing in the current pharmaceutical industry, and points to gene therapies as the solution to these unmet needs. The report also elucidates the promising late-stage gene therapy pipeline, and provides insights into the gene therapeutics R&D pipeline and funding opportunities.

- Analysis of the leading therapeutic segments for which clinical development in gene therapy is being conducted.

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Gene Therapy Market to 2018 - Product Development Slowed by Clinical Failures, Close Regulatory Surveillance and High ...

The Irish Times - Monday, July 2, 2012

LORNA SIGGINS

WORLD leaders in stem-cell technology are due to exchange knowledge of potential treatments at a conference opening in NUI Galway today.

Researchers from NUIG, University College Cork and NUI Maynooth will participate in the event, which has been billed as the first major conference on stem-cell therapy in Ireland.

Prof Anthony Hollander of the University of Bristol, England who was one of a team which successful created and then transplanted the first tissue-engineered trachea or windpipe is among a number of international speakers presenting findings.

The gathering will focus on the realities of stem-cell treatment, Prof Frank Barry, director of NUIGs National Centre for Biomedical Engineering Science has said.

The therapy is complex and controversial, and sometimes exaggerated claims are made, he said.

The researchers are specialists in Mesenchymal, or adult, stem cells, and will be concentrating on what is likely in the future, he added.

The list of conditions which could be treated successfully by stem cells is small, but growing, Prof Barry said.

Leukaemia and other diseases of the blood appear to respond best.

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Stem-cell research leaders to meet in NUIG

Halfway around the world in India, Sivaprakash Ramalingam had heard of Johns Hopkins researchers using a promising new technique for gene therapy that he hoped to integrate with stem cells to cure diseases.

After getting a doctorate in biochemistry in his native country, he came to Baltimore four years ago to study under the technique's pioneer, Srinivasan Chandrasegaran, at Hopkins' Bloomberg School of Public Health. Ramalingam's research has led him down the path of seeking a cure for sickle cell anemia, a painful, life-shortening blood disorder that afflicts many in his home region in southern India. In the United States, the disease affects 70,000-100,000 people, mostly African-Americans, according to the National Heart Lung and Blood Institute.

"I couldn't have done this type of research in India," said Ramalingam. "I wanted to use this technique with stem cells to treat disease."

Ramalingam's research was given a lift last month by the state. He was one of 17 researchers who was funded by the Maryland Stem Cell Research Commission, a state entity that has doled out roughly $10 million to $12 million a year in taxpayer funds since its founding in 2006.

The program helps keep Maryland competitive in stem cell research when other states have instituted similar ones to lure scientists and biotechnology companies. More than 100 researchers applied for funding from the program, many from Johns Hopkins and the University of Maryland.

"There's definitely a great demand for the awards," said Dan Gincel, the commission's director. "We're trying to figure out how to fund so many researchers."

Gincel said Ramalingam's work is interesting because his approach could have applications beyond sickle cell anemia. It could be used to treat other diseases and, for instance, modify plants and crops to make them resistant to pests.

Ramalingam received a $110,000 award two years ago from the commission to help fund his post-doctoral fellowship; the commission invested more money in his work this year because he was continuing to progress with it, Gincel said.

"The approach can be translated to many other diseases, which is what we want to see with stem cells," said Gincel.

Ramalingam is applying a relatively new technique called zinc finger nuclease, or ZFN, to try to cure sickle cell anemia. With ZFN, Ramalingam is able to target and replace specific, problem-causing sequences of the human genome with healthier genetic material.

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Researcher hunts for sickle cell anemia cure

By Laura Pullman

PUBLISHED: 14:40 EST, 30 June 2012 | UPDATED: 03:20 EST, 1 July 2012

With a ferocious heat wave sweeping across the nation, millions of Americans are taking extra measures to keep cool.

But one St Louis family have to go even further to protect themselves from the scorching sun as they have a rare condition which means they physically cannot sweat.

Virginia Higgins and her four-year-old son Zane both have a form of ectodermal dysplasias, a genetic condition that affects sweat glands and causes defects in hair, nails and teeth.

Scroll down for video

Keeping it cool: Virginia Higgins and her 4year-old son Zane, right, both have a form of ectodermal dysplasias which stops their ability to sweat, meaning they need to be extra careful in hot weather

Extra careful: Zane's parents use ice blankets and jackets to make sure the 4-year-old doesn't overheat when playing outside; he is pictured here with his dad Brian

Diagnosed with the condition as a child, Ms Higgins has become an expert in forward planning for the hot weather.

The ectodermal dysplasias are inherited disorders that involve defects in the hair, nails, sweat glands and teeth.

Excerpt from:
Keeping it cool! Mom and son, 4, who cannot sweat during holiday heatwave because of rare genetic condition

Researchers are hoping to solve more indigenous health problems by overcoming barriers to genetic research in Aboriginal communities.

IT comes as the first research in almost a decade investigating genetic causes of disease in Aboriginal people is set to be released, after widespread opposition to the practice stymied research projects for years.

Melbourne University anthropologist Emma Kowal said research into genetic associations between diabetes and middle-ear infections would shortly be published, while studies into heart disease, kidney disease and vulval cancer started in the past two years.

Dr Kowal, writing in the Medical Journal of Australia on Monday, said ethical concerns around indigenous genetic research internationally - such as its potential to inadvertently reinforce racial stereotypes - had contributed to Australian projects losing or being rejected funding.

"What we've seen in the past couple of years is that tide of opinion start to reverse," Dr Kowal told AAP.

Dr Kowal, from the university's School of Social and Political Sciences, said Australian guidelines needed to be developed for ethical genetic research in indigenous communities.

Similar guidelines had been developed in Canada, including specific guidance on how biospecimens should be collected, stored and used, Dr Kowal said.

Guidelines should also include how to effectively communicate genetic concepts to Aboriginal communities.

Australia's national research body for Aboriginal and Torres Strait Islander health, the Lowitja Institute, hosted discussions between the research and indigenous communities in the past two years.

As a result, a team of indigenous and non-indigenous researchers and geneticists formed a group to develop the Australian guidelines.

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Genetics 'could improve' Aboriginal health

Public release date: 1-Jul-2012 [ | E-mail | Share ]

Contact: Mika OnoScripps Research Institute scientists develop alternative to gene therapy mikaono@scripps.edu 858-784-2052 Scripps Research Institute

LA JOLLA, CA July 1, 2012 Scientists at The Scripps Research Institute have discovered a surprisingly simple and safe method to disrupt specific genes within cells. The scientists highlighted the medical potential of the new technique by demonstrating its use as a safer alternative to an experimental gene therapy against HIV infection.

"We showed that we can modify the genomes of cells without the troubles that have long been linked to traditional gene therapy techniques," said the study's senior author Carlos F. Barbas III, who is the Janet and Keith Kellogg II Professor of Molecular Biology and Chemistry at The Scripps Research Institute.

The new technique, reported in Nature Methods on July 1, 2012, employs zinc finger nuclease (ZFN) proteins, which can bind and cut DNA at precisely defined locations in the genome. ZFNs are coming into widespread use in scientific experiments and potential disease treatments, but typically are delivered into cells using potentially risky gene therapy methods.

The Scripps Research scientists simply added ZFN proteins directly to cells in a lab dish and found that the proteins crossed into the cells and performed their gene-cutting functions with high efficiency and minimal collateral damage.

"This work removes a major bottleneck in the efficient use of ZFN proteins as a gene therapy tool in humans," said Michael K. Reddy, who oversees transcription mechanism grants at the National Institutes of Health's (NIH) National Institute of General Medical Sciences, which helped fund the work, along with an NIH Director's Pioneer Award. "The directness of Dr. Barbas's approach of 'simply' testing the notion that ZFNs could possess an intrinsic cell-penetrating ability is a testament to his highly creative nature and further validates his selection as a 2010 recipient of an NIH Director's Pioneer Award."

Questioning Assumptions

ZFNs, invented in the mid-1990s, are artificial constructs made of two types of protein: a "zinc-finger" structure that can be designed to bind to a specific short DNA sequence, and a nuclease enzyme that will cut DNA at that binding site in a way that cells can't repair easily. The original technology to make designer zinc finger proteins that are used to direct nucleases to their target genes was first invented by Barbas in the early 1990s.

Scientists had assumed that ZFN proteins cannot cross cell membranes, so the standard ZFN delivery method has been a gene-therapy technique employing a relatively harmless virus to carry a designer ZFN gene into cells. Once inside, the ZFN gene starts producing ZFN proteins, which seek and destroy their target gene within the cellular DNA.

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Scripps Research Institute Scientists Develop Alternative to Gene Therapy

ScienceDaily (July 1, 2012) Scientists at The Scripps Research Institute have discovered a surprisingly simple and safe method to disrupt specific genes within cells. The scientists highlighted the medical potential of the new technique by demonstrating its use as a safer alternative to an experimental gene therapy against HIV infection.

"We showed that we can modify the genomes of cells without the troubles that have long been linked to traditional gene therapy techniques," said the study's senior author Carlos F. Barbas III, who is the Janet and Keith Kellogg II Professor of Molecular Biology and Chemistry at The Scripps Research Institute.

The new technique, reported in Nature Methods on July 1, 2012, employs zinc finger nuclease (ZFN) proteins, which can bind and cut DNA at precisely defined locations in the genome. ZFNs are coming into widespread use in scientific experiments and potential disease treatments, but typically are delivered into cells using potentially risky gene therapy methods.

The Scripps Research scientists simply added ZFN proteins directly to cells in a lab dish and found that the proteins crossed into the cells and performed their gene-cutting functions with high efficiency and minimal collateral damage.

"This work removes a major bottleneck in the efficient use of ZFN proteins as a gene therapy tool in humans," said Michael K. Reddy, who oversees transcription mechanism grants at the National Institutes of Health's (NIH) National Institute of General Medical Sciences, which helped fund the work, along with an NIH Director's Pioneer Award.

Questioning Assumptions

ZFNs, invented in the mid-1990s, are artificial constructs made of two types of protein: a "zinc-finger" structure that can be designed to bind to a specific short DNA sequence, and a nuclease enzyme that will cut DNA at that binding site in a way that cells can't repair easily. The original technology to make designer zinc finger proteins that are used to direct nucleases to their target genes was first invented by Barbas in the early 1990s.

Scientists had assumed that ZFN proteins cannot cross cell membranes, so the standard ZFN delivery method has been a gene-therapy technique employing a relatively harmless virus to carry a designer ZFN gene into cells. Once inside, the ZFN gene starts producing ZFN proteins, which seek and destroy their target gene within the cellular DNA.

One risk of the gene-therapy approach is that viral DNA -- even if the virus is not a retrovirus -- may end up being incorporated randomly into cellular DNA, disrupting a valuable gene such as a tumor-suppressor gene. Another risk with this delivery method is that ZFN genes will end up producing too many ZFN proteins, resulting in a high number of "off-target" DNA cuts. "The viral delivery approach involves a lot of off-target damage," said Barbas.

In the new study, Barbas and his colleagues set out to find a safer ZFN delivery method that didn't involve the introduction of viruses or other genetic material into cells. They experimented initially with ZFN proteins that carry extra protein segments to help them penetrate cell membranes, but found these modified ZFNs hard to produce in useful quantities. Eventually, the scientists recognized that the zinc-finger segments of ordinary ZFNs have properties that might enable the proteins to get through cell membranes on their own.

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29-06-2012 19:46 Clip 4. GENETIC CHILE "Benefitting the Farmer" and "Feeding the Hungry" are two false statements about GMOs. *** GENETIC CHILE, An eye-opening look at the world of genetically modified foods through the lens of New Mexico's iconic chile pepper. The chile pepper defines New Mexican cuisine and is considered a sacred plant by many cultures. Despite overwhelming evidence of gene flow, persistent safety questions, predatory multinational agribusiness corporations and potential economic damage, the State of New Mexico funded research to produce a GMO chile, which is the first time a US state has done so. Because the funding is public, filmmaker Chris Dudley, was able to force a rare interview with a genetic researcher at NMSU. This film is packed with information about the harmful use of GMO technology and the ignorance shown by the proponents of GMO crops. Documentary, by Chris Dudley. In English | 60 minutes. |

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ScienceDaily (June 29, 2012) A recent study led by researchers at Boston University School of Medicine (BUSM) revealed that the FOXO1 gene may play an important role in the pathological mechanisms of Parkinson's disease.

These findings are published online in PLoS Genetics, a peer-reviewed open-access journal published by the Public Library of Science.

The study was led by Alexandra Dumitriu, PhD, a postdoctoral associate in the department of neurology at BUSM. Richard Myers, PhD, professor of neurology at BUSM, is the study's senior author.

According to the Parkinson's Disease Foundation, 60,000 Americans are diagnosed with Parkinson's disease each year and approximately one million Americans are currently living with the disease.

Parkinson's disease is a complex neurodegenerative disorder characterized by a buildup of proteins in nerve cells that lead to their inability to communicate with one another, causing motor function issues, including tremors and slowness in movement, as well as dementia. The substantia nigra is an area of the midbrain that helps control movement, and previous research has shown that this area of the brain loses neurons as Parkinson's disease progresses.

The researchers analyzed gene expression differences in brain tissue between 27 samples with known Parkinson's disease and 26 samples from neurologically healthy controls. This data set represents the largest number of brain samples used in a whole-genome expression study of Parkinson's disease to date. The novel aspect of this study is represented by the researchers' emphasis on removing possible sources of variation by minimizing the differences among samples. They used only male brain tissue samples that showed no significant marks of Alzheimer's disease pathology, one of the frequently co-occurring neurological diseases in Parkinson's disease patients. The samples also had similar tissue quality and were from the brain's prefrontal cortex, one of the less studied areas for the disease. The prefrontal cortex does not show neuronal death to the same extent as the substantia nigra, although it displays molecular and pathological modifications during the disease process, while also being responsible for the dementia present in a large proportion of Parkinson's disease patients.

Results of the expression experiment showed that the gene FOXO1 had increased expression in the brain tissue samples with known Parkinson's disease. FOXO1 is a transcriptional regulator that can modify the expression of other genes. Further examination of the FOXO1 gene showed that two single-nucleotide polymorphisms (SNPs), or DNA sequence variations, were significantly associated with age at onset of Parkinson's disease.

"Our hypothesis is that FOXO1 acts in a protective manner by activating genes and pathways that fight the neurodegeneration processes," said Dumitriu. "If this is correct, there could be potential to explore FOXO1 as a therapeutic drug target for Parkinson's disease."

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FOXO1 gene may play important role in Parkinson's disease

ScienceDaily (June 29, 2012) A research team led by Seattle Children's Research Institute has discovered new gene mutations associated with markedly enlarged brain size, or megalencephaly. Mutations in three genes, AKT3, PIK3R2 and PIK3CA, were also found to be associated with a constellation of disorders including cancer, hydrocephalus, epilepsy, autism, vascular anomalies and skin growth disorders.

The study was published online June 24 in Nature Genetics.

The discovery offers several important lessons and hope for the future in medicine. First, the research team discovered additional proof that the genetic make-up of a person is not completely determined at the moment of conception. Researchers previously recognized that genetic changes may occur after conception, but this was believed to be quite rare. Second, discovery of the genetic causes of these human diseases, including developmental disorders, may also lead directly to new possibilities for treatment.

AKT3, PIK3R2 and PIK3CA are present in all humans, but mutations in the genes are what lead to conditions including megalencephaly, cancer and other disorders. PIK3CA is a known cancer-related gene, and appears able to make cancer more aggressive. Scientists at Boston Children's Hospital recently published similar findings related to PIK3CA and a rare condition known as CLOVES syndrome in the American Journal of Human Genetics.

Physician researcher James Olson, MD, PhD, a pediatric cancer expert at Seattle Children's and Fred Hutchinson Cancer Research Center who was not affiliated with the study, acknowledged the two decades-worth of work that led to the findings. "This study represents ideal integration of clinical medicine and cutting-edge genomics," he said. "I hope and believe that the research will establish a foundation for successfully using drugs that were originally developed to treat cancer in a way that helps normalize intellectual and physical development of affected children. The team 'knocked it out of the park' by deep sequencing exceptionally rare familial cases and unrelated cases to identify the culprit pathway." The genes -- AKT3, PIK3R2 and PIK3CA -- all encode core components of the phosphatidylinositol-3-kinase (P13K)/AKT pathway, the "culprit pathway" referenced by Olson.

The research provides a first, critical step in solving the mystery behind chronic childhood conditions and diseases. At the bedside, children with these conditions could see new treatments in the next decade. "This is a huge finding that provides not only new insight for certain brain malformations, but also, and more importantly, provides clues for what to look for in less severe cases and in conditions that affect many children," said William Dobyns, MD, a geneticist at Seattle Children's Research Institute. "Kids with cancer, for example, do not have a brain malformation, but they may have subtle growth features that haven't yet been identified. Physicians and researchers can now take an additional look at these genes in the search for underlying causes and answers."

Researchers at Seattle Children's Research Institute will now delve more deeply into the findings, with an aim to uncover even more about the potential medical implications for children. "Based on what we've found, we believe that we can eventually reduce the burden of and need for surgery for kids with hydrocephalus and change the way we treat other conditions, including cancer, autism and epilepsy," said Jean-Baptiste Rivire, PhD, at Seattle Children's Research Institute. "This research truly helps advance the concept of personalized medicine."

Drs. Dobyns, Rivire and team made this discovery through exome sequencing, a strategy used to selectively sequence the coding regions of the genome as an inexpensive but effective alternative to whole genome sequencing. An exome is the most functionally relevant part of a genome, and is most likely to contribute to the phenotype, or observed traits and characteristics, of an organism.

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New gene mutations that lead to enlarged brain size, cancer, autism, epilepsy identified

FORT WAYNE Its like copying the blueprint of a blue ribbon pig.

Whiteshire Hamroc is an Albion swine genetics company that grows its herd through artificial insemination. Put another way, its a process that takes DNA from the best pigs with the goal of producing the highest-quality meat. These days, that means leaner cuts of pork.

After enduring the recession, the 30-year-old company has seen business start to pick up. The company posted $15 million in revenue in 2011, up about 5 percent from the previous year. This fall, the company expects to break ground on a multimillion-dollar research and development farm in Noble County a joint venture with a company in China.

Mike Platt is executive director of the Indiana Pork Association.

Platt said consumer demand is the reason behind Whiteshires growth. The public demands better quality food and it cant be left up to chance, Platt said.

People want their pork to be leaner, he said. So, how can you ensure that without (genetic farming)? You cant. The truth is that as science has improved over the last 30 years, it only makes sense to take advantage of it.

And Whiteshire figures to do just that.

The research project venture involves Tangrenshen Co., an integrated pork and feed firm in China. Whiteshire has been teaming with its Asian counterpart since 2007. Terms of the latest deal, announced June 7, were not disclosed. The development will create 25 permanent jobs and more than 100 temporary construction positions for northeast Indiana.

Whiteshire, which employs more than 40 workers, has three buildings over a five-acre site at 4728 N. 200 W. Besides its headquarters and genetic evaluation building, the company has two farms with 1,500 sows. Its main customers include meat packing plants, other pork farms and medical companies that harvest tissue or organs. About 40,000 pigs are sold annually.

Other companies in the state involved at the research center are Gentryville-based Tempel Genetics Inc. and Albany-based Shaffer Superior Genetics Inc. Cedar Ridge Farms of Redbud, Ill., also is participating.

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Lean pork: It's genetic

By Jon Bardin, Los Angeles Times / For the Booster Shots blog 7:01 p.m. EST, June 29, 2012

A new vaccine may help prevent the brain stimulation that keeps smokers from being able to quit. (Francine Orr / Los Angeles Times / Jun 29, 2012)

Cant kick cigarettes? A vaccine may one day help by preventing nicotine from reaching its target in the brain, according to research published this week.

Most smoking therapies do a poor job of stopping the habit 70% to 80% of smokers who use an approved drug therapy to quit relapse. Scientists say this is because the targets of existing therapies are imperfect, only slightly weakening nicotines ability to find its target in the brain.

So some scientists have been trying a different approach creation of a vaccine. It would work like this: People would inject the vaccine like a shot, and the vaccine would create nicotine antibodies, molecules that can snatch up nicotine from the bloodstream before it reaches the brain. The vaccine could be used by smokers who want to quit or people who are worried about getting addicted to cigarettes in the future.

Researchers have tried to create vaccines in the past, but the ones theyve come up with have not been particularly effective. The authors of the new study say this may be because previous vaccines just didnt create enough antibodies to get rid of all the nicotine.

The new report, published in the journal Science Translational Medicine, attempts to solve this problem via gene therapy, in which a new gene is inserted into the body to do a particular job.

First the scientists at Weill Cornell Medical College in New York City put a gene that produces a nicotine antibody into mice. The gene was taken into the mices livers, and the liver started producing the antibody. Once produced, the antibody connected with nicotine, trapping it and preventing it from making its way to the brain, where it would otherwise have caused the pleasurable, addictive effects it is so known for.

Because of this trick, the researchers say that the new vaccine should only have to be injected once, and it will work for life, continuing to produce new antibodies in the liver.

The vaccine was effective: When mice were given nicotine intravenously, ones with the vaccine had a 47-fold drop in levels of nicotine in the blood compared with ones that hadnt received the vaccine. The antibody had successfully captured the nicotine in the bloodstream before it could reach the brain.

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Gene therapy for smoking kills pleasure of nicotine

28-06-2012 13:54 About 5 months ago, she came home from the beach with my husband limping on her right back leg. Now 8 weeks later after stem cell therapy... we were happy (well, maybe not so much...) to see her back to her old, wild, hyper self again.

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29-06-2012 14:27 Of all the methods of gene transfer, lentiviral transduction and retroviral transduction are ideal because they allow development of stably transduced mammalian cell lines. But traditional methods require adding cell-killing additives. Learn how cell-friendly RetroNectin Reagent can dramatically boost transduction efficiency - while keeping your cells happy!

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29-06-2012 19:25 Clip 1. GENETIC CHILE What is a GMO? Stephen Hanson, PhD from New Mexico State University defines GMO as a genetically modified organism, really refers to organisms that are created through genetic engineering. *** GENETIC CHILE, An eye-opening look at the world of genetically modified foods through the lens of New Mexico's iconic chile pepper. The chile pepper defines New Mexican cuisine and is considered a sacred plant by many cultures. Despite overwhelming evidence of gene flow, persistent safety questions, predatory multinational agribusiness corporations and potential economic damage, the State of New Mexico funded research to produce a GMO chile, which is the first time a US state has done so. Because the funding is public, filmmaker Chris Dudley, was able to force a rare interview with a genetic researcher at NMSU. This film is packed with information about the harmful use of GMO technology and the ignorance shown by the proponents of GMO crops. Documentary, by Chris Dudley. In English | 60 minutes. |

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29-06-2012 19:33 Clip 2. GENETIC CHILE Monsanto, the largest seed company in the world and NMSU working together to create and sell genetically manufactured seeds. *** GENETIC CHILE, An eye-opening look at the world of genetically modified foods through the lens of New Mexico's iconic chile pepper. The chile pepper defines New Mexican cuisine and is considered a sacred plant by many cultures. Despite overwhelming evidence of gene flow, persistent safety questions, predatory multinational agribusiness corporations and potential economic damage, the State of New Mexico funded research to produce a GMO chile, which is the first time a US state has done so. Because the funding is public, filmmaker Chris Dudley, was able to force a rare interview with a genetic researcher at NMSU. This film is packed with information about the harmful use of GMO technology and the ignorance shown by the proponents of GMO crops. Documentary, by Chris Dudley. In English | 60 minutes. |

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29-06-2012 19:42 Clip 3. GENETIC CHILE Are GMOs good for us? No one knows what the long term effects of GMOs will be, but during the first Bush Administration it was decided that GMOs would be "generally regarded as safe". *** GENETIC CHILE, An eye-opening look at the world of genetically modified foods through the lens of New Mexico's iconic chile pepper. The chile pepper defines New Mexican cuisine and is considered a sacred plant by many cultures. Despite overwhelming evidence of gene flow, persistent safety questions, predatory multinational agribusiness corporations and potential economic damage, the State of New Mexico funded research to produce a GMO chile, which is the first time a US state has done so. Because the funding is public, filmmaker Chris Dudley, was able to force a rare interview with a genetic researcher at NMSU. This film is packed with information about the harmful use of GMO technology and the ignorance shown by the proponents of GMO crops. Documentary, by Chris Dudley. In English | 60 minutes. |

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