WRT 205 - Evolution of Genetic Engineering
New Project 1.

By: Amber C

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WRT 205 - Evolution of Genetic Engineering - Video

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Mini Seminar (5.c)-Genetic Engineering

By: kobrienSPS

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Mini Seminar (5.c)-Genetic Engineering - Video

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Biotechnology - Cloning Genetic Engineering
Video notes on cloning genetic engineering.

By: Vanita Vance

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Biotechnology - Cloning

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Public release date: 3-May-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, May 2, 2013Tumor repressor genes, which inhibit tumor formation, can be "turned off" due to undesirable molecular changes affecting the chromosomes on which the genes reside. Understanding and being able to control these alterations could lead to new approaches for activating or inactivating genes linked to cancer. A novel, high-throughput screening method used to identify agents that can block one chemical modifier that plays a key role in some forms of cancer is described in ASSAY and Drug Development Technologies, a peer-reviewed journal published from Mary Ann Liebert, Inc., publishers (http://www.liebertpub.com). The article is available on the ASSAY and Drug Development Technologies website (http://www.liebertpub.com/adt).

Jeffrey Simard, Matthew Plant, Renee Emkey, and Violeta Yu, Amgen, Inc. (Cambridge, MA) present an optimized, robust assay for screening large numbers of chemical compounds against EZH2 methyltransferase. This enzyme is part of a multi-protein complex which can alter the methylation state of chromosomal proteins. Increased EZH2 methyltransferase activity has been associated with reduced expression of tumor repressor genes.

In the article "Development and Implementation of a High-Throughput AlphaLISA Assay for Identifying Inhibitors of EZH2 Methyltransferase" (http://online.liebertpub.com/doi/full/10.1089/adt.2012.481) the authors describe the use of AlphaLisa technology to detect methylation by EZH2 and emphasize that this approach should accelerate the identification of small molecule inhibitors for use as research tools and for development as novel anti-cancer therapeutics.

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About the Journal

Assay and Drug Development Technologies is an authoritative peer-reviewed journal published 10 times a year in print and online. It provides early-stage screening techniques and tools that enable identification and optimization of novel targets and lead compounds for new drug development. Complete tables of content and a complementary sample issue may be viewed on the ASSAY and Drug Development Technologies website ((http://www.liebertpub.com/adt).

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including OMICS: A Journal of Integrative Biology and Genetic Testing and Molecular Biomarkers. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 70 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website (http://www.liebertpub.com).

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Identifying inhibitors of human proteins that promote tumor formation

Recommendation and review posted by Bethany Smith

Public release date: 3-May-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, May 1, 2013Congestive heart failure affects more than 5.3 million Americans, is increasing in prevalence, and is ultimately fatal, but the duration and quality of life leading up to death can be unpredictable and vary greatly. Patients and caregivers could better plan for this difficult time if they knew what to expect. Five of the most common scenarios for the last 12 months of life in end-stage heart failure are clearly described in the article "Trajectory of Illness for Patients with Congestive Heart Failure," published in Journal of Palliative Medicine, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. Journal of Palliative Medicine is the Official Journal of the Center to Advance Palliative Care (CAPC). The article is available on the Journal of Palliative Medicine website (http://www.liebertpub.com/jpm).

Authors R. Kheirbek, et al. from Washington DC Veterans Affairs Medical Center and George Washington University School of Medicine, and Bay Pines Veteran Administration Healthcare System and University of South Florida Morsani College of Medicine, modeled the path to death over the preceding 12 months of 744 patients with progressive congestive heart failure. They found that about 20% of patients had an unexpected death, whereas the remaining had a gradual progression toward death.

From these models the authors identified five different trajectories, in an effort to help bring some degree of predictability to the last 12 months of life for these patients, and help them gain some control over their illness. For example, the authors concluded that it may be possible to use progression towards death over three consecutive months as a predictor of need for Hospice consults.

"Death from heart failure is the leading cause of death in the United States," says Charles F. von Gunten, MD, PhD, Editor-in-Chief of Journal of Palliative Medicine and Clinical Professor of Medicine, University of California, San Diego. "It is high time that, like death from cancer, we plan for the future rather than being surprised when it happens."

###

About the Journal

Journal of Palliative Medicine (http://www.liebertpub.com/jpm), published monthly in print and online, is an interdisciplinary journal that reports on the clinical, educational, legal, and ethical aspects of care for seriously ill and dying patients. The Journal includes coverage of the latest developments in drug and non-drug treatments for patients with life-threatening diseases including cancer, AIDS, cardiac disease, pulmonary, neurological, and respiratory conditions, and other diseases. The Journal reports on the development of palliative care programs around the United States and the world and on innovations in palliative care education.

About the Publisher

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Predicting the path to death and helping patients cope with end-stage heart failure

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May 3, 2013

redOrbit Staff & Wire Reports Your Universe Online

Researchers have discovered a link between nearsightedness and mutations in a gene partially responsible for the regulation of copper and oxygen levels in eye tissues, according to a paper published in Thursdays edition of the American Journal of Human Genetics.

Nearsightedness, which is also known as myopia, is a condition which results when a persons eye is too long or there is too much curvature in their cornea, which keeps light entering the eye from focusing properly.

A more severe form of the condition, which affects up to two percent of people in the US and is particularly common in Asian population, is known as high-grade myopia and can result in an increased risk of other serious eye conditions such as retinal detachment, cataracts and glaucoma.

Previous research has suggested that nearsightedness is caused by a combination of genetics and environmental influences, such as an overabundance of reading. While the condition has been known to be inherited in families, the specific genetic factors involved have remained unclear leading a team of experts from Duke University Medical Center to further explore the issue by studying families suffering from high-grade myopia.

This is the first time a gene mutation for autosomal dominant nonsyndromic high-grade myopia in Caucasians has been discovered, senior author Terri Young, a professor of ophthalmology, pediatrics and medicine at the Duke Eye Center, Duke Center for Human Genetics and the Duke-National University of Singapore Graduate Medical School (Duke-NUS), said in a statement. Our findings reflect the hard work and collaboration of our international research team.

Young and her colleagues performed next-generation deep sequencing on four members of an 11-member American family of European descent. By analyzing DNA extracted from their blood and saliva, Youngs team identified that mutations in the SCO2 gene were common in family members with high-grade myopia, but absent in those that did not suffer from the condition.

They went on to identify four mutations in the SCO2 gene in an additional 140 people with high-grade myopia, and once those mutations were identified, the researchers examined human eye tissue. In doing so, they verified that this particular gene was expressed in areas of the eye linked to being nearsighted. They then performed experiments on mice which provided further evidence that the gene could play a role in the development of myopia.

Our findings, plus information from the literature, suggest that copper deficiency could predispose people to develop myopia, Young explained. While this wasnt directly tested in this study, its possible that our diets which are deficient in a number of minerals and vitamins play a role, and it may be something as easy as taking a supplement with copper that helps thwart the development of myopia.

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Genetic Mutation's Role In High-Grade Myopia Examined

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Flipping a genetic switch in tumour cells can halt the spread of cancer, scientists have shown.

The discovery raises the possibility of stopping deadly disease in its tracks by blocking the gene, thought to be active in all aggressive cancers.

HGMA1 operates like an orchestra conductor, regulating a range of biological processes tumours need to grow and spread around the body.

Its usual role is to drive cell growth during embryonic development. In healthy adult cells, it is turned off, but the gene is reactivated in cancers.

In laboratory tests, scientists found that suppressing HGMA1 in highly aggressive breast cancer caused the tumour cells to look much more normal and healthy. Their growth was greatly slowed and they stopped migrating and invading new territory.

Breast tumours implanted into mice were far less likely to grow and spread when HGMA1 was blocked.

Dr Linda Resar, from Johns Hopkins University School of Medicine in Baltimore, US, said : "This master regulator is normally turned off in adult cells, but it is very active during embryonic development and in all highly aggressive tumors studied to date.

"Our work shows for the first time that switching this gene off in aggressive cancer cells dramatically changes their appearance and behavior."

HGMA1 plays a role in reprogramming ordinary mature cells into stem cells that can transform themselves into any kind of tissue. One of the major hurdles facing stem cell scientists is the risk of generating tumours by triggering out-of-control cell growth.

The new work developed from research investigating the behaviour of HGMA1 in stem cells.

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Could This Genetic Switch Halt Spread Of Cancer?

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PROVO -- Emily Bates used to suffer from migraines. She hasn't had one recently, but still has a passion for helping those who are afflicted with them.

A professor in the department of chemistry and biochemistry at BYU, she and a team were featured in a cover article of Journal of Science Translational Medicine on Wednesday for research that discovered a genetic link to migraines.

She was quick to explain that not everyone who gets migraines is susceptible because of their genes. Nor is discovering the genetic link a cure for those who do.

"It is kind of a hopeful thing," she said. "It is a hope that we get to understand what is going on. It is really a bizarre disorder. It is kind of a first clue what is going on for a migraine, what makes a person more susceptible."

Migraines can affect anyone, she said.

"You can be taking care of your health in every way and go from a very healthy person to being very incapacitated," she said.

That's how Seth Hawkins feels when a migraine strikes.

"It's pretty miserable," he said. "For me, there's headaches and there's migraines. The pain is excruciating. It's hard to focus on anything. My vision will start to blur, then I get intense nausea, then the headache itself. I become extremely sensitive to light. I have to go into a really dark room. It should be a cool room as well. Heat makes the nausea even worse. I was also sensitive to sound as well.

"It's one of those that you can take stuff, sometimes it helps, sometimes it doesn't. I get them, depending on how stressed I am, an average of two or three times a month. I used to be a schoolteacher and I got them a whole lot more. For me, the biggest help has been understanding what my triggers are and making sure I don't engage those. My two biggest are not getting enough water, and stress. If I can keep my stress level down I usually don't get migraines."

"A lot of times I will get them in the middle of the day," he said. "I will think I can tough it out. It makes it worse. Unless I'm lying down waiting for medication to kick in, it doesn't help. Sometimes it lasts three, four or five hours on end. If I take the medication, from the time I take it to the time the migraine actually starts to wear off, is usually one or two hours.

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BYU professor helps discover genetic link to migraines

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Some of the most devastating forms of cancer have genetic similarities even though they strike different body parts, according to new studies out Thursday.

The new research -- one study focused on a form of leukemia, in the New England Journal of Medicine, and a second on endometrial cancer, in Nature -- could offer a pathway to new, more effective treatments.

The new findings challenge the previous approach of classifying tumors based on the body part where they are first observed, and add fuel to the growing trend of differentiating tumors based on their genetic profile.

The research came as part of a vast program undertaken by the National Institutes of Health called the "Cancer Genome Atlas Project," which aims to decode the genetic pattern of 10,000 tumors from 20 different cancers.

Thanks to that analysis, scientists had already found genetic relationships between certain forms of breast, lung, and colon cancers.

For example, one type of breast cancer presents genetic mutations very similar to the ones found in ovarian cancer, and colon cancers often have mutations found in breast cancer.

The researchers said around half of all lung cancers could respond to treatments used against other kinds of tumors.

The latest study found the most aggressive form of endometrial cancer, which affects the uterine lining, is similar to more grave forms of breast and ovarian cancer.

"The clinical and pathologic features of uterine serous carcinoma and high-grade serous ovarian carcinoma, or HGSOC, are quite similar," wrote the authors of the study published in Nature, which analyzed more than 370 tumors.

Likewise, "HGSOC shares many similar molecular features with basal-like breast carcinoma," added the team, which was directed by Douglas Levine of Memorial Sloan Kettering Cancer Center, in New York.

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US studies find genetic links in aggressive cancers

Recommendation and review posted by Bethany Smith

SOME of the most devastating forms of cancer have genetic similarities even though they strike different body parts.

The new research - one study focused on a form of leukaemia, in the New England Journal of Medicine, and a second on endometrial cancer, in Nature - could provide a pathway to new, more effective treatments.

The findings, released on Thursday, challenge the previous approach of classifying tumours based on the body part where they are first observed, and add to the growing trend of differentiating tumours based on their genetic profile.

The research is part of a vast program by the National Institutes of Health known as the Cancer Genome Atlas Project, which aims to decode the genetic pattern of 10,000 tumours from 20 different cancers.

Scientists have already found genetic relationships between certain forms of breast, lung, and colon cancers.

For example, one type of breast cancer presents genetic mutations very similar to the ones found in ovarian cancer, and colon cancers often have mutations found in breast cancer.

The researchers said about half of all lung cancers could respond to treatments used against other kinds of tumours.

The latest study found the most aggressive form of endometrial cancer, which affects the uterine lining, is similar to more grave forms of breast and ovarian cancer.

"The clinical and pathologic features of uterine serous carcinoma and high-grade serous ovarian carcinoma, or HGSOC, are quite similar," wrote the authors of the study published in Nature, which analysed more than 370 tumours.

Likewise, "HGSOC shares many similar molecular features with basal-like breast carcinoma," added the team, which was directed by Douglas Levine of Memorial Sloan Kettering Cancer Center, in New York.

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Genetic links in aggressive cancer

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Young Engineer of the Year builds his own genetics lab
Young Engineer of the Year builds his own genetics lab Subscribe to the Guardian HERE: http://bitly.com/UvkFpD Fred Turner, Young Engineer of the Year 2013, ...

By: TheGuardian

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Young Engineer of the Year builds his own genetics lab - Video

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Bone Marrow Stem Cell Transplantation and Gene Therapy for Cystinosis
A presentation by Stephanie Cherqui, PhD, University of California, San Diego at the 2013 Day of Hope Cystinosis Research Foundation Family Conference, Balbo...

By: Natalieswish

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Bone Marrow Stem Cell Transplantation and Gene Therapy for Cystinosis - Video

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Hope - It #39;s In Our Genes: Dr. Barry Byrne at TEDxUF 2013
Over the past 20 years, a revolution in medicine has been developing. Since the discovery of DNA, scientists have be a decoding the origins of human disease ...

By: TEDxTalks

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Hope - It's In Our Genes: Dr. Barry Byrne at TEDxUF 2013 - Video

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The State of Personalized Medicine for Breast Cancer
Dr. Alana Welm of the Huntsman Cancer Institute, Utah, although a young investigator, has made a significant impact on the study-particularly the metastasis-...

By: Lynn Marquis

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The State of Personalized Medicine for Breast Cancer - Video

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Denis Nogueira - Reabilitao/Musculao (Leso Medular C5) - (recovery - spinal cord injury)
Treino na academia Kcond #39;s Fitness (Marcos Navarro) e preparador fsico Beto. Sou lesado medular desde 02/11/2009, e tenho sempre evoludo. "These are some e...

By: DenisNogueiraOficial

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Denis Nogueira - Reabilitação/Musculação (Lesão Medular C5) - (recovery - spinal cord injury) - Video

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Stem Cell Treatments for Spinal Cord Injury: Theo K. - Stem Cell Institute Panama
Theo Kostoulas is a T-6 complete spinal cord injury patient. He received a course of 16 stem cell therapy injections using umbilical cord-derived stem cells ...

By: cellmedicine

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Stem Cell Treatments for Spinal Cord Injury: Theo K. - Stem Cell Institute Panama - Video

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Poor funding for spinal cord injury independent living
in the 3 1/2 years I have been fighting to live at home independently I have learned that in the United States is nearly impossible for someone with a severe...

By: Jesse Collens

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Poor funding for spinal cord injury independent living - Video

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67 WALL STREET, New York - May 1, 2013 - The Wall Street Transcript has just published its Biotechnology and Pharmaceuticals Report offering a timely review of the sector to serious investors and industry executives. This special feature contains expert industry commentary through in-depth interviews with public company CEOs and Equity Analysts. The full issue is available by calling (212) 952-7433 or via The Wall Street Transcript Online.

Topics covered: Health Care - Biotechnology and Pharmaceuticals - Executive Officer Interviews - Biotechnology and Pharmaceutical Investing - Orphan Drug and Biologics Manufacturing - Biotechnology and Pharmaceutical Companies Valuation

Companies include: Celgene Corporation (CELG), Amgen Inc. (AMGN), Celldex Therapeutics, Inc. (CLDX), Aastrom Biosciences, Inc. (ASTM), Pluristem Therapeutics, Inc. (PSTI), Arena Pharmaceuticals, Inc. (ARNA), Immunogen Inc. (IMGN) and many more.

In the following excerpt from the Biotechnology and Pharmaceuticals Report, an expert analyst discusses the outlook for the sector for investors:

TWST: What have been some of the biggest successes and which have been the companies with the biggest successes?

Mr. Peaker: In terms of successes in the oncology space, on the larger-cap side we've had some positive news from Celgene (CELG) for this drug called Pomalyst in myeloma. It's a relatively limited market in our view at this point, but still a novel compound for a high-profile indication.

Recently, Amgen (AMGN) reported very interesting topline results from a melanoma drug, which is also very exciting. We don't know the details, but at least the top line sounds encouraging. My top pick has been and remains at this time, Celldex (CLDX). I think that their targeted antibody-drug conjugate drug is highly innovative and showed very encouraging data.

In cell therapy, I follow several cell therapy companies. Recently there was some negative development for Aastrom (ASTM), which was not surprising. Basically, what it comes down to, and it's something that's always been our thesis, is that while cell therapy may seem attractive because it tends to be very safe and not really have the side effects of traditional oncology drugs, it also has to be relatively easy for the patient and have a pretty broad-based indication. So the reason Aastrom discontinued clinical development wasn't because of failure of outcome for its therapy. It's simply they couldn't get the patient into the study.

It's always been our concern about their particular situation because the actual harvesting of the cell is pretty inconvenient for the patient, and they have such a narrow recruiting criteria that when you put those two together, they couldn't even run a study realistically getting those patients. So cell therapy remains a very interesting area, but I think that there's still a lot...

For more of this interview and many others visit the Wall Street Transcript - a unique service for investors and industry researchers - providing fresh commentary and insight through verbatim interviews with CEOs, portfolio managers and research analysts. This special issue is available by calling (212) 952-7433 or via The Wall Street Transcript Online.

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A Cautious Outlook on the Cell Therapy Space: Expert Analyst Boris Peaker Interviews with The Wall Street Transcript ...

Recommendation and review posted by Bethany Smith

67 WALL STREET, New York - May 1, 2013 - The Wall Street Transcript has just published its Biotechnology and Pharmaceuticals Report offering a timely review of the sector to serious investors and industry executives. This special feature contains expert industry commentary through in-depth interviews with public company CEOs and Equity Analysts. The full issue is available by calling (212) 952-7433 or via The Wall Street Transcript Online.

Topics covered: Health Care - Biotechnology and Pharmaceuticals - Executive Officer Interviews - Biotechnology and Pharmaceutical Investing - Orphan Drug and Biologics Manufacturing - Biotechnology and Pharmaceutical Companies Valuation

Companies include: Celgene Corporation (CELG), Amgen Inc. (AMGN), Celldex Therapeutics, Inc. (CLDX), Aastrom Biosciences, Inc. (ASTM), Pluristem Therapeutics, Inc. (PSTI), Arena Pharmaceuticals, Inc. (ARNA), Immunogen Inc. (IMGN) and many more.

In the following excerpt from the Biotechnology and Pharmaceuticals Report, an expert analyst discusses the outlook for the sector for investors:

TWST: What have been some of the biggest successes and which have been the companies with the biggest successes?

Mr. Peaker: In terms of successes in the oncology space, on the larger-cap side we've had some positive news from Celgene (CELG) for this drug called Pomalyst in myeloma. It's a relatively limited market in our view at this point, but still a novel compound for a high-profile indication.

Recently, Amgen (AMGN) reported very interesting topline results from a melanoma drug, which is also very exciting. We don't know the details, but at least the top line sounds encouraging. My top pick has been and remains at this time, Celldex (CLDX). I think that their targeted antibody-drug conjugate drug is highly innovative and showed very encouraging data.

In cell therapy, I follow several cell therapy companies. Recently there was some negative development for Aastrom (ASTM), which was not surprising. Basically, what it comes down to, and it's something that's always been our thesis, is that while cell therapy may seem attractive because it tends to be very safe and not really have the side effects of traditional oncology drugs, it also has to be relatively easy for the patient and have a pretty broad-based indication. So the reason Aastrom discontinued clinical development wasn't because of failure of outcome for its therapy. It's simply they couldn't get the patient into the study.

It's always been our concern about their particular situation because the actual harvesting of the cell is pretty inconvenient for the patient, and they have such a narrow recruiting criteria that when you put those two together, they couldn't even run a study realistically getting those patients. So cell therapy remains a very interesting area, but I think that there's still a lot...

For more of this interview and many others visit the Wall Street Transcript - a unique service for investors and industry researchers - providing fresh commentary and insight through verbatim interviews with CEOs, portfolio managers and research analysts. This special issue is available by calling (212) 952-7433 or via The Wall Street Transcript Online.

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Finding Innovation in Biotechnology for Cell Therapy, Oncology and Orphan Drugs: A Wall Street Transcript Interview ...

Recommendation and review posted by Bethany Smith

CARLSBAD, CA--(Marketwired - May 1, 2013) - International Stem Cell Corporation (OTCQB: ISCO) (www.internationalstemcell.com) a California-based biotechnology company developing novel stem cell based therapies announced that Dr. Ruslan Semechkin, VP of Research and Development, will present additional data from the primate study of the use of neuronal cells for the treatment of Parkinson's disease at the 16th Annual Meeting of American Society of Gene and Cell Therapy, May 15-18, 2013 at the Salt Palace Convention Center in Salt Lake City, UT.

The results, including more detailed analysis of the safety and functional activity of the cells, will be presented orally at the following session:

Session: Stem Cell Engineering and Therapy Date: Thursday, May 16, 2013 Time: 2:00 PM Room: Ballroom D Title: Cell Replacement Therapy for Parkinson's Disease with Neuronal Cells Derived from Human Parthenogenetic Stem Cells

In addition ISCO will present two posters detailing progress in our pre-clinical metabolic liver disease program and recent achievements with our "safe" iPS cells, induced pluripotent stem cells that do not rely on viral vectors for the genetic reprogramming. The posters will be presented on Thursday, May 16, 2013 between 4:00 pm and 6:00 pm in Exhibit Hall C/D.

About International Stem Cell Corporation

International Stem Cell Corporation is focused on the therapeutic applications of human parthenogenetic stem cells (hpSCs) and the development and commercialization of cell-based research and cosmetic products. ISCO's core technology, parthenogenesis, results in the creation of pluripotent human stem cells from unfertilized oocytes (eggs) hence avoiding ethical issues associated with the use or destruction of viable human embryos. ISCO scientists have created the first parthenogenetic, homozygous stem cell line that can be a source of therapeutic cells for hundreds of millions of individuals of differing genders, ages and racial background with minimal immune rejection after transplantation. hpSCs offer the potential to create the first true stem cell bank, UniStemCell. ISCO also produces and markets specialized cells and growth media for therapeutic research worldwide through its subsidiary Lifeline Cell Technology (www.lifelinecelltech.com), and stem cell-based skin care products through its subsidiary Lifeline Skin Care (www.lifelineskincare.com). More information is available at http://www.internationalstemcell.com.

To receive ongoing corporate communications via email, visit: http://www.b2i.us/irpass.asp?BzID=1468&to=ea&s=0

To like our Facebook page or follow us on Twitter for company updates and industry related news, visit: http://www.facebook.com/InternationalStemCellCorporation and http://www.twitter.com/intlstemcell

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International Stem Cell Corporation to Present at American Society of Gene and Cell Therapy 16th Annual Meeting

Recommendation and review posted by Bethany Smith

Geneticist Emily Bates of Brigham Young University was on a team studying the link between sleep patterns and migraine.

Geneticist Emily Bates of Brigham Young University was on a team studying the link between sleep patterns and migraine.

Bates experienced migraines as a child. She made this painting to depict how they felt to her.

Bates experienced migraines as a child. She made this painting to depict how they felt to her.

Mutations on a single gene appear to increase the risk for both an unusual sleep disorder and migraines, a team reports in Science Translational Medicine.

The finding could help explain the links between sleep problems and migraines. It also should make it easier to find new drugs to treat migraines, researchers say.

And for one member of the research team, Emily Bates, the discovery represents a personal victory.

Bates remembers getting a lot of migraines in elementary school. They would start with nausea and changes in vision, she says. Then came the pain.

"Loud sounds and light kind of hurt my eyes and my ears and my head," she says. Moving or applying any sort of pressure to her skin also hurt.

The problem was embarrassing and caused her to miss a lot of school, Bates says. It also was frustrating, she says, because back then, in the 1990s, no one could tell her much about what was causing her migraines or how to stop them.

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A Sleep Gene Has A Surprising Role In Migraines

Recommendation and review posted by Bethany Smith

Public release date: 2-May-2013 [ | E-mail | Share ]

Contact: Vanessa Pavinato media@esmo.org European Society for Medical Oncology

Lugano-CH, Brussels-BE, 2 May 2013 -- A test that measures the expression levels of 58 genes in oestrogen receptor-positive breast cancers can effectively differentiate between patients who are at higher and lower risk for having their cancer recur elsewhere in the body more than five years after diagnosis, researchers report.

The new findings show that better individual risk prediction for women with these cancers is getting nearer, says study author Prof Michael Gnant from the Medical University of Vienna, Austria.

Prof Gnant reported the findings at the 5th IMPAKT Breast Cancer Conference in Brussels, Belgium. The IMPAKT meeting presents cutting edge, 'translational' breast cancer research that is beginning to have an impact for patients.

Metastasis after 5 years of follow-up is an important research issue, particularly in hormone-receptor positive breast cancer, Prof Gnant explains.

"Despite all great progress we have made in the treatment of this most frequent subtype of breast cancer, some patients develop metastasis many years after their initial diagnosis. Extending adjuvant endocrine therapy to prevent this is an option, but comes with substantial side-effects and cost for society, and should therefore be reserved for those patients who really need it. Thus, better defining individual risk for late metastasis is an important medical and scientific need," Prof Gnant says.

The PAM50 Risk of Recurrence (ROR) score used by the researchers in this study directly measures the expression levels of 58 different genes (50 discriminator genes and 8 controls).

Prof Gnant and colleagues performed the PAM50 analysis on 1,478 patients who had taken part in the ABCSG-8 trial, which ran from 1996 to 2009. They found that the PAM50 ROR score provided significant prognostic information in addition to clinical factors with respect to late distant-relapse-free survival.

After 11 years of median follow-up, of patients who were classified by the test as having low risk, 98.7% had not had a late metastasis between 5 and 10 years of follow-up, compared to 91.5% of those with a high PAM50 ROR score. This was true both for node-positive and node-negative disease.

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Gene expression test distinguishes between breast cancer patients at high and low risk of late recurrence

Recommendation and review posted by Bethany Smith

Released: 5/1/2013 2:00 PM EDT Embargo expired: 5/2/2013 12:05 PM EDT Source Newsroom: Duke Medicine

Newswise DURHAM, N.C. -- People have long taken for granted that glasses and contact lenses improve vision for nearsightedness, but the genetic factors behind the common condition have remained blurry. Now researchers at Duke Medicine are closer to clearing this up.

Mutations in a gene that helps regulate copper and oxygen levels in eye tissue are associated with a severe form of nearsightedness, according to a study published in the American Journal of Human Genetics on May 2, 2013.

Nearsightedness also known as myopia is the most common human eye disease in the world. It occurs if the eye is too long or the cornea has too much curvature, which keeps light entering the eye from focusing correctly.

High-grade myopia, a more severe form of nearsightedness, affects up to two percent of Americans and is especially common in Asian populations. Individuals with high-grade myopia are at an increased risk for other serious eye problems, including retinal detachment, cataracts and glaucoma.

Studies suggest that myopia is caused by a combination of environmental factors, such as large amounts of reading, and genetics. Nearsightedness runs in families, but little is understood about genetic factors that cause it.

In recent years, researchers have reported several genes or locations of genes associated with myopia, and have continued to search for additional clues.

This is the first time a gene mutation for autosomal dominant nonsyndromic high-grade myopia in Caucasians has been discovered, said senior author Terri Young, M.D., MBA, professor of ophthalmology, pediatrics and medicine at the Duke Eye Center, Duke Center for Human Genetics and the Duke-National University of Singapore Graduate Medical School (Duke-NUS). Our findings reflect the hard work and collaboration of our international research team.

In this study, Young and her colleagues sought to identify these genetic factors by studying families with high-grade myopia. They performed next-generation deep sequencing on four relatives from an 11-member American family of European descent.

Analyzing DNA extracted from blood and saliva, the researchers identified mutations in the SCO2 gene in common among family members with high-grade myopia, but absent in those family members with no myopia. They confirmed four mutations in the SCO2 gene in an additional 140 people with high-grade myopia.

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Researchers Identify Gene Mutations Associated with Nearsightedness

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May 2, 2013 Massachusetts General Hospital researchers have identified a gene variant that helps predict how much weight an individual will lose after gastric bypass surgery, a finding with the potential both to guide treatment planning and to facilitate the development of new therapeutic approaches to treating obesity and related conditions like diabetes. The report, published online in The American Journal of Human Genetics, is the first to identify genetic predictors of weight loss after bariatric surgery.

"We know now that bypass surgery works not by physically restricting food intake but primarily through physiological effects -- altering the regulation of appetite to decrease hunger and enhance satiety and increasing daily energy expenditure," said Lee Kaplan, HMS associate professor of medicine at Mass General and director of the hospital's Obesity, Metabolism and Nutrition Institute. He is a senior author of the report. "Genetic factors appear to determine a patient's response to gastric bypass, and the identification of markers that predict postoperative weight loss could provide important insight into those physiological mechanisms."

The research team conducted genome-wide association studies of more than 1,000 patients who had bypass surgery at Mass General from 2000 to 2011, analyzing almost 2 million gene sites for associations between specific variants and the percentage of weight lost after surgery. One specific variant at a site on chromosome 15 was most closely associated with weight loss. Individuals with two copies of the beneficial version of the gene lost an average of almost 40 percent of their presurgical weight, while those with only one copy lost around 33 percent. The single individual in the study group who had no copies of the beneficial variant lost less than 30 percent of presurgical weight.

Expression of one of the genes closest to the site of this variant was also able to predict the percentage of weight lost. In addition, experiments in a mouse model of gastric bypass indicated that expression of the corresponding version of that human gene, as well as another gene adjacent to the variant site, was altered by bypass surgery. Additional gene variants not as strongly associated with the response to bypass surgery are candidates for further study in larger groups of patients.

Two predictive models developed by Kaplan and his team have had promising initial results. One of these combines the chromosome 15 genetic variant with clinical factors such as age, gender, the presence of diabetes and exercise behaviors to predict surgical outcomes; the other includes 12 additional gene variants the investigators are studying to determine their usefulness in treatment planning.

Notably, none of the predictive gene sites identified in this study is involved in pathways previously known to influence the development of obesity, suggesting that different genes contribute to the benefits of bypass. Development of drugs that target the activity of those genes might produce some of the same benefits without the need for surgery, Kaplan said.

"The fact that genetics appears to play such an important role in how well bypass surgery works in an individual patient gives us even more evidence that obesity results from dysfunction of the biological mechanisms that regulate fat mass and body weight and not solely from aberrant behavior or limited willpower," he adds. "Identifying the involved genes opens up the potential for new classes of antiobesity therapies that mimic or exploit the molecular mechanisms so effectively used by gastric bypass."

The study was supported by National Institutes of Health grants DK093257, DK088661 and DK090956, along with grants from Merck Research Laboratories and Ethicon Endo-Surgery.

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Gene variant appears to predict weight loss after gastric bypass

Recommendation and review posted by Bethany Smith

Public release date: 2-May-2013 [ | E-mail | Share ]

Contact: Rachel Harrison rachel.harrison@duke.edu 919-419-5069 Duke University Medical Center

DURHAM, N.C. -- People have long taken for granted that glasses and contact lenses improve vision for nearsightedness, but the genetic factors behind the common condition have remained blurry. Now researchers at Duke Medicine are closer to clearing this up.

Mutations in a gene that helps regulate copper and oxygen levels in eye tissue are associated with a severe form of nearsightedness, according to a study published in the American Journal of Human Genetics on May 2, 2013.

Nearsightedness also known as myopia is the most common human eye disease in the world. It occurs if the eye is too long or the cornea has too much curvature, which keeps light entering the eye from focusing correctly.

High-grade myopia, a more severe form of nearsightedness, affects up to two percent of Americans and is especially common in Asian populations. Individuals with high-grade myopia are at an increased risk for other serious eye problems, including retinal detachment, cataracts and glaucoma.

Studies suggest that myopia is caused by a combination of environmental factors, such as large amounts of reading, and genetics. Nearsightedness runs in families, but little is understood about genetic factors that cause it.

In recent years, researchers have reported several genes or locations of genes associated with myopia, and have continued to search for additional clues.

"This is the first time a gene mutation for autosomal dominant nonsyndromic high-grade myopia in Caucasians has been discovered," said senior author Terri Young, M.D., MBA, professor of ophthalmology, pediatrics and medicine at the Duke Eye Center, Duke Center for Human Genetics and the Duke-National University of Singapore Graduate Medical School (Duke-NUS). "Our findings reflect the hard work and collaboration of our international research team."

In this study, Young and her colleagues sought to identify these genetic factors by studying families with high-grade myopia. They performed next-generation deep sequencing on four relatives from an 11-member American family of European descent.

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Duke researchers identify gene mutations associated with nearsightedness

Recommendation and review posted by Bethany Smith