Consumers armed with genetic testing information from the likes of 23andMe and a whole host of gene testing companies are showing up at the emergency room or their primary care physicians offices looking for answers.

The problem is that those physicians dont know enough about the emerging field of personalized medicine, said Dr. Jennifer Lowry, a pediatrician at Childrens Mercy Hospital, Kansas City, Missouri. Lowry, who works at the hospitals Center for Personalized Medicine and Therapeutic Innovation, was speaking at MedCity CONVERGE Tuesday in Philadelphia.

Personalized medicine may be routine at Mayo Clinic but when parents show up with their childs genetic test results in the doctors office, many physicians are asking what this all means, Lowry said. They are like Whaaaat?

Later in an interview, Lowry said that personalized medicine was not even taught when she was in medical school and she had to learn it by herself.

She and others on the panel which included James Burn, president and CEO of genetic testing firm AssureRx, and Mike Scott, patient advocate, chairman of National Organization for Rare Disorders agreed that physician education was essential.

Burns said that AssureRx is exploring ways to educate patients simultaneously with those in the medical profession.

However, Lowry later said that she does not believe that companies developing the tests should be the entities managing this communication.Lowry said that the education will have to come from physicians who are unconnected to organizations that do the testing. She added that the Center for Personalized Medicine and Therapeutic Innovation holds conferences to educate the primary care physician or the ER physician, but many times people who show up are mainly researchers.

There is a good reason for why Lowry doesnt want the education to come from the companies doing the testing. She doesnt think these tests are that accurate.

Mayo is the best that we have, but I sometimes override even their interpretation of the test results, Lowry declared.

Read more:
Physicians need more education on personalized medicine

Recommendation and review posted by Bethany Smith

For Immediate Release

Chicago, IL July 10, 2012 Zacks.com announces the list of stocks featured in the Analyst Blog. Every day the Zacks Equity Research analysts discuss the latest news and events impacting stocks and the financial markets. Stocks recently featured in the blog include Qiagen (QGEN), Bristol-Myers Squibb Co. (BMY), Eli Lilly & Co. (LLY), Quest Diagnostics (DGX) and Myriad Genetics (MYGN).

Get the most recent insight from Zacks Equity Research with the free Profit from the Pros newsletter: http://at.zacks.com/?id=5513

Here are highlights from Mondays Analyst Blog:

FDA Approves Qiagens KRAS Test

Molecular diagnostics solutions provider, Qiagen (QGEN) recently got the nod of the U.S. Food and Drug Administration (FDA) to market the therascreen KRAS RGQ PCR Kit (therascreen KRAS test), which helps in determining the responsiveness of the metastatic colorectal cancer patients to the drug Erbitux (cetuximab). Qiagen considers this FDA approval of the therascreen KRAS test as a major breakthrough in the companys international expansion of its Personalized Healthcare franchise that comprises a huge portfolio of molecular companion diagnostics to guide treatments in oncology.

The drug Erbitux is an epidermal growth factor receptor (:EGFR) inhibitor and is used to treat colon and rectum cancer. It is also beneficial for head and neck cancer treatment. Currently, this drug is marketed in the U.S. by Bristol-Myers Squibb Co. (BMY) and Eli Lilly & Co. (LLY).

Excerpt from:
The Zacks Analyst Blog Highlights: Qiagen, Bristol-Myers Squibb, Eli Lilly, Quest Diagnostics and Myriad Genetics

Recommendation and review posted by Bethany Smith

MOUNTAIN VIEW, Calif., July 10, 2012 /PRNewswire/ --23andMe, a leading personal genetics company, today announced its first acquisition with the purchase of CureTogether, Inc.The addition of CureTogether provides technology and talent that will improve 23andMe's ability to gather data for research while also providing customers with engaging and meaningful interactions in 23andMe's online community. Specific terms of the transaction were not disclosed.

"A driving force for the acquisition is the alignment of core values we share with CureTogether," 23andMe CEO and Co-Founder Anne Wojcicki. "It underscores 23andMe's commitment to helping individuals understand their own genetic information through proven DNA analysis technologies and web-based interactive tools; and generating patient-driven, informed-consent research as well as empowering our customers to use their personal genetic information to find connections and establish communities based on their DNA."

23andMe's Personal Genome Service enables individuals to explore their own DNA and currently provides more than 200 health and traits reports as well as genetic ancestry information. 23andMe's customer communities currently cover a wide range of topics from Relative Finder matches provided through the company's ancestry analysis, to disease-specific research communities such as Parkinson's Disease, Sarcoma, Myleoproliferative Neoplasms and the Roots Into The Future research community for African-Americans.

CureTogether brings to 23andMe additional tools and systems for gathering data from health-based communities that are complementary to the existing 23andMe platforms, allowing customers to share quantitative information on more than 500 medical conditions, talk about sensitive symptoms and compare which treatments work best for them as they track their health. CureTogether's platform includes more than 4 million phenotypic data points across those different health conditions that could help inform future genetic discoveries. "There are tremendous opportunities for our members and for future research by integrating the 23andMe and the CureTogether platforms and phenotypic data," explained CureTogether Co-Founder Daniel Reda, who joins 23andMe as senior product manager.

CureTogether was launched in 2008 initially to help people who live in daily chronic pain. Starting with three conditions, it quickly expanded as people wrote in to request that their conditions be added to their ongoing study. CureTogether, like 23andMe, is supported by social web-based platforms and is committed to patient-driven research, having partnered with researchers at leading universities and research institutions including Carnegie Mellon University, Cornell University, Drexel University, MIT Media Laboratory and Stanford University.

"We encourage our CureTogether members to join us in the 23andMe community," added CureTogether Co-Founder Alexandra Carmichael who joins 23andMe as senior product manager, "to help accelerate research discoveries enabled by this unprecedented compilation of community-contributed genetic and phenotypic data."

An ongoing service, 23andMe's Personal Genome Service provides a wealth of information about an individual's DNA and updates about new research. Customers can also choose to participate in the company's unique research programs. By completing online surveys, customers contribute directly to genetic research that can potentially lead to better understanding of and new treatments for a variety of health conditions. To learn more, visit http://www.23andMe.com.

About 23andMe 23andMe, Inc. is a leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company's Personal Genome Service enables individuals to gain deeper insights into their ancestry and inherited traits. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. 23andMe, Inc., was founded in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. More information is available at http://www.23andme.com.

More here:
23andMe Acquires CureTogether, Inc.

Recommendation and review posted by Bethany Smith

IRVINE, Calif. and AMSTERDAM, July 10, 2012 /PRNewswire/ -- Agendia, an innovative molecular cancer diagnostics company and leader in personalized medicine, today announced that Dr. Mark Gittleman, Medical Director of Breast Care Specialists and Advanced Breast Care Imaging, has joined the company's Medical Advisory Board. The board will play a key role in advising Agendia on the clinical application of its extensive product pipeline, including its Symphony suite of tests for breast cancer and its ColoPrint test for colon cancer.

(Photo: http://photos.prnewswire.com/prnh/20120710/NY37010 )

"I have been impressed by the science and methodologies behind Agendia's product development, the conversion of their tests to an FFPE format and the numerous validation studies that have been published to date," said Dr. Gittleman. "These tests have been extremely useful in appropriately directing targeted systemic therapy for my breast cancer patients. For these reasons, I am pleased to have been asked to join Agendia's Medical Advisory Board, and I look forward to contributing and sharing new ideas to reach our common goals."

As a breast cancer specialist, Dr. Gittleman has a vested interest in new technologies that enable medical professionals to better understand the biology of breast cancer, thereby helping patients attain better outcomes through the application of validated, clinically useful technologies such as Agendia's MammaPrint, BluePrint, TargetPrint and TheraPrint gene profiling tests. He is a past president of the American Society of Breast Surgeons. Dr. Gittleman currently serves on the ASBS Coding and Reimbursement and Breast Imaging Technology committees and is a reviewer for Ultrasound and Stereotactic certification applicants.

"With his vast knowledge and experience in breast imaging and minimally invasive biopsy techniques, Dr. Gittleman brings a unique perspective to our growing Medical Advisory Board," said David Macdonald, CEO of Agendia. "As Agendia invests significantly in clinical research studies to support the use of new diagnostic tests, our Medical Advisory Board will be an integral part of our clinical trial development. We look forward to working with Dr. Gittleman in our efforts to advance the future of healthcare and bring personalized medicine to breast and colon cancer patients."

About Agendia:

Agendia is a leading molecular diagnostic company that develops and markets genomic-based diagnostic products, which help support physicians with their complex treatment decisions. Agendia's breast cancer Symphony suite was developed using unbiased gene selection, analyzing the complete human genome, ensuring 100% definitive results for cancer patients. Symphony includes MammaPrint, the first and only FDA-cleared IVDMIA breast cancer recurrence assay, as well as BluePrint, a molecular subtyping assay, TargetPrint, an ER/PR/HER2 expression assay, and TheraPrint, an alternative therapy selection assay. Together, these tests help physicians determine a patient's individual risk for metastasis, which patients will benefit from chemo, hormonal, or combination therapy, and which patients do not require these treatments and can instead be treated with other less arduous and less costly methods.

In addition to the Symphony suite of tests, Agendia has a rich pipeline of genomic products in development. The company collaborates with pharmaceutical companies, leading cancer centers and academic groups to develop companion diagnostic tests in the area of oncology and is a critical partner in the ISPY-2 and MINDACT trials.

For more information, please visit http://www.agendia.com.

For further information, please contact: Post+Beam Melissa Hurley Tel: +1 646 442 2773 E-mail: hurley@postandbeam.is

See original here:
Agendia Welcomes Dr. Mark Gittleman to Expanding Medical Advisory Board

Recommendation and review posted by sam

SAN DIEGOand ANN ARBOR, Mich., July 10, 2012 /PRNewswire/ --Everist Genomics (EGI), a privately held personalized medicine company developing innovative diagnostics for oncology and cardiovascular disease, announced today that it will open a new lab at Johnson and Johnson's Janssen Labs, a new life science innovation center, based in San Diego. Out of the more than 300 companies that have applied for space at the state-of-the-art facility, only 15 companies, including EGI, have been selected to date by Janssen Labs.

Janssen Labs, which opened in January 2012, provides its resident life science companies access to world-class infrastructure, equipment and resources to help advance research and development aimed at advancing medical care. Resident companies are chosen by a selection committee consisting of senior Johnson and Johnson management based on a comprehensive review that includes the prospective companies' business plans and financial projections. The companies are evaluated across a number of criteria, including:

"In the biotechnology sector, San Diego is seen as one of the world's biggest hotbeds of innovation, and Johnson and Johnson stands in a class of its own with regards to innovation in research and development," said Alex Charlton, Executive Vice Chairman of EGI Charlton. "The expansion of EGI into Janssen Labs represents an exciting opportunity for us to showcase the unique capabilities of our diagnostics, prognostics and therapeutic selection technologies, which are underpinned by the company's strong IP position. Ultimately, we expect this initiative to support our entire business strategy, from new product development to marketing and sales, catalyzing both short-term and long-term growth opportunities."

EGI plans to open its Janssen Labs satellite laboratory in Q3 2012, enabling the company to achieve greater cost efficiencies across its business by sharing resources such as equipment and administrative support services with other companies at the facility. By locating the company's new laboratory in one of the world's top global biotechnology hubs, the company can evaluate opportunities for partnerships with other life science companies. EGI also sees tremendous added value by having close proximity to Silicon Valley.

Charlton added that while the terms of the Janssen Labs program does not require resident companies to contract with Johnson and Johnson on any research and development or commercialization plans, it ensures that EGI is on the radar screen of the multinational life sciences leader. "There is no obligation for companies operating at Janssen Labs to work or partner with Johnson and Johnson," Charlton said. "But as a natural result of our proximity to Johnson and Johnson, there is a potential to develop such relationships with the company in the future."

EGI has already begun marketing a number of products in areas such as colorectal cancer and cardiovascular disease through its ongoing R&D programs and industry partnerships. The company launched its first companion diagnostic test, OncoDefender-CRC, in June 2011 and has already distributed more than 6,000 OncoDefender-CRC test kits to hospitals around the country. In March 2012, the company expanded its companion diagnostics portfolio and began marketing three new testsOncoSelector, OncoDefender-MMR and OncoDefender-Lynch Syndrome. Through several strategic product acquisitions, the company has also entered the cardiovascular space, launching two new mobile health diagnostics, CardioDefender and AngioDefender. These devices integrate novel sensor technology with mobile digital services, smartphones and other mobile devices to provide flexible monitoring and diagnosis of cardiovascular conditions that traditionally have been limited to observation through legacy hospital diagnostic systems.

At the company's new laboratory at Janssen Labs, EGI will focus on continuing to build out its colorectal cancer and cardiovascular disease portfolios, leveraging its proprietary machine learning algorithm, Evolver, to identify and assess new biomarkers that are relevant to disease prognosis and treatment. EGI is also exploring new technologies and platforms designed to advance treatment planning in other indications, such as metabolic disease

(Photo: http://photos.prnewswire.com/prnh/20120710/NY36911) CardioDefender The world's first hospital quality ECG on a smartphone

About Everist Genomics

Everist Genomics, Inc. (EGI) is a personalized medicine company, which develops and commercializes medically unique diagnostics, prognostics and therapeutic selection technologies. EGI is focused on rapidly growing disease areas with major unmet needs, including cancer, cardiovascular disease and metabolic disease (e.g. diabetes). EGI's innovative products successfully integrate with mobile digital services, smartphones and tablet computers resulting in advanced medical technology, which until now has been confined to the hospital setting. For online information about Everist Genomics, please visit http://www.everistgenomics.com.

Original post:
Everist Genomics Awarded Admission to Johnson and Johnson's Life Science Innovation Center

Recommendation and review posted by sam

"Janne's Next Step" is a Unique Documentary that Chronicles a Man's Fight to Walk Again After a Devastating Spinal Cord Injury

WASHINGTON, July 10, 2012 /PRNewswire-USNewswire/ --

"The basis of Locomotor Training is the discovery that the spinal cord has a complicated circuitry that can control locomotor," said Dr. V. Reggie Edgerton, Distinguished Professor of Integrative Biology and Physiology and of Neurology at UCLA. "Our research has proven that the spinal cord can actually re-learn how to walk after a spinal cord injury, without input from the brain."

After Janne Kouri suffered a tragic diving accident that nearly cost him his life, he was told he would never walk again. He underwent an experimental activity-based rehabilitation treatment called Locomotor Training that was developed by Dr. Reggie Edgerton (UCLA) and Dr. Susan Harkema (University of Louisville) in partnership with the Christopher and Dana Reeve Foundation. Locomotor Training re-teaches the spinal cord how to control motor functions, like walking, through repetitive motion. It was developed and perfected with the help of lab animals and brave people, like Janne. After months of intensive training, Janne began to regain function in his feet, then in his legs, and today Janne can take steps with a walker.

Janne is now helping hundreds of others living with spinal cord injuries through his nonprofit organization, NextStep Fitness -- the first community facility in the U.S. to offer Locomotor and activity-based training at its state-of-the-art facility in Los Angeles. With this optimistic story of human triumph over tragedy, "Janne's Next Step" shows viewers how dedicated experts at UCLA, University of Louisville and the Christopher and Dana Reeve Foundation are developing incredible, cutting-edge treatments to help those living with spinal cord injuries walk again. For more information about the film or screening event, please email info@fbrmedia.com.

FBR Media is an award-winning production studio that creates striking digital content across multiple platforms. Its latest TV series, Bench to Bedside, tells inspirational true stories about people and animals living with serious illnesses and the incredible biomedical research that could save their lives. FBR Media is a registered trademark of the Foundation for Biomedical Research.

SOURCE FBR Media

Back to top

Read the original post:
World Premiere of "Janne's Next Step" on Los Angeles' KTTV on July 29

Recommendation and review posted by sam

Sugarland, TEXAS (PRWEB) July 10, 2012

Sugarland cosmetic dentist Dr. Lance Jue from A Beautiful Smile at Lake Pointe has become the first provider of dental stem cell therapy in Fort Bend County.

Dental stem cell therapy saves stem cells from baby teeth, teeth removed for orthodontic reasons and wisdom teeth to help with future infections, injuries or diseases.

Dr. Jue works with Store-A-Tooth, which provides a Tooth Transport Kit, collects and validates the stems cells that are collected from the tooth. The cells are kept frozen until the day they are needed, at which time they are sent to the patients healthcare provider.

Dental stem cells have been used to treat periodontal disease, diabetes, spinal cord injury, stroke and liver disease. Stem cells are different from other cells because they can transform into many different cell types and divide more than other types of cells.

Dental stem cells are particularly effective because they replicate faster than stem cells take from other body tissues.

The initial cost of the Store-A-Tooth service is one-third to one-half the initial cost of storing umbilical cord blood, another source of stem cells.

A Beautiful Smile at Lake Pointe is the dental practice of Dr. Lance Jue. It has served the Houston area's restorative, cosmetic and general dentistry needs for 19 years. Dr. Jue makes an effort to listen to every patient to give him or her the appropriate treatment.

Read the original here:
Dr. Jue Brings Store-A-Tooth Dental Stem Cell Therapy Service to Sugarland

Recommendation and review posted by Bethany Smith

NEW YORK, July 10, 2012 (GLOBE NEWSWIRE) -- NeoStem, Inc. (NYSE MKT:NBS) ("NeoStem" or the "Company"), a cell therapy company, today announced that its CEO will present at the Seventh Annual JMP Securities Healthcare Conference on July 12, 2012.

The presentation will be webcast live and available to view at the following web address: http://wsw.com/webcast/jmp18/nbs/. The webcast will be archived for 90 days following the live presentation.

The Seventh Annual JMP Securities Healthcare Conference

About NeoStem, Inc.

NeoStem, Inc. ("we," "NeoStem" or the "Company") continues to develop and build on its core capabilities in cell therapy to capitalize on the paradigm shift that we see occurring in medicine. In particular, we anticipate that cell therapy will have a large role in the fight against chronic disease and in lessening the economic burden that these diseases pose to modern society. Our January 2011 acquisition of Progenitor Cell Therapy, LLC ("PCT") provides NeoStem with a foundation in both manufacturing and regulatory affairs expertise. We believe this expertise, coupled with our existing research capabilities and collaborations, will allow us to achieve our mission of becoming a premier cell therapy company. Our PCT subsidiary's manufacturing base is one of the few current Good Manufacturing Practices ("cGMP") facilities available for contracting in the burgeoning cell therapy industry. Amorcyte, LLC ("Amorcyte"), which we acquired in October 2011, is developing a cell therapy for the treatment of cardiovascular disease. Amorcyte's lead compound, AMR-001, represents NeoStem's most clinically advanced therapeutic and Amorcyte is enrolling patients for a Phase 2 trial to investigate AMR-001's efficacy in preserving heart function after a heart attack. We also expect to begin a Phase 1 clinical trial by 2012/2013 to investigate AMR-001's utility in arresting the progression of congestive heart failure and the associated comorbidities of that disease. Athelos Corporation ("Athelos"), which is approximately 80%-owned by our subsidiary, PCT, is engaged in collaboration with Becton-Dickinson that is exploring the earlier stage clinical development of a T-cell therapy for autoimmune conditions. In addition, our pre-clinical assets include our VSELTM Technology platform as well as our MSC (mesenchymal stem cells) product candidate for regenerative medicine.

For more information on NeoStem, please visit http://www.neostem.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Forward-looking statements reflect management's current expectations, as of the date of this press release, and involve certain risks and uncertainties. Forward-looking statements include statements herein with respect to the successful execution of the Company's business strategy, including with respect to the Company's successful development of cell therapeutics, as well as the future of the cell therapeutics industry. The Company's actual results could differ materially from those anticipated in these forward- looking statements as a result of various factors. Factors that could cause future results to materially differ from the recent results or those projected in forward-looking statements include the "Risk Factors" described in the Company's Annual Report on Form 10-K filed with the Securities and Exchange Commission on March 20, 2012 and in the Company's periodic filings with the Securities and Exchange Commission. The Company's further development is highly dependent on future medical and research developments and market acceptance, which is outside its control.

Read more:
NeoStem to Present at the Seventh Annual JMP Securities Healthcare Conference

Recommendation and review posted by Bethany Smith

Tuloy na ang stem cell therapy ni Annabelle Rama dahil naka-schedule na siyang pumunta sa Germany sa first week ng September.

Kasama ni Annabelle sa Germany trip ang kanyang anak na si Ruffa Gutierrez. Hindi ako sure kung may plano rin si Ruffa na magpa-stem cell therapy dahil walang age limit ang procedure na pinag-uusapan na ngayon sa apat na sulok ng showbiz.

Tinutukso si Annabelle Rama na may kinalaman sa kanyang pagkandidato sa Cebu ang desisyon niya na sumailalim sa stem cell therapy.

Tumawa lang si Bisaya na mukhang seryoso na sa pagkandidato bilang kongresista ng North Cebu sa eleksiyon sa susunod na taon.

Binibiro si Bisaya na magpapa-stem cell therapy siya para kundisyon na kundisyon ang katawan niya habang nangangampanya sa North Cebu.

Ayaw kumpirmahin ni Bisaya ang political plans niya. Hintayin na lamang daw ng mga tao ang kanyang bonggang announcement sa October.

Asawa ni Jose nag-iba ng abogado matapos matalo

How true na iba na raw ang lawyers ni Analyn Manalo kaya tumanggi nang magsalita ang kanyang mga dating abogado?

Si Analyn ang kontrobersiyal na dyowa ni Jose Manalo. Ilang buwan nang nasa news ang mag-asawa dahil sa kanilang paghihiwalay.

News noong weekend na natalo si Analyn sa kaso na isinampa niya laban kay Jose.

See the article here:
Bibiyahe sa Germany kasama si Ruffa, Annabelle magpapakondisyon sa kampanya kaya magpapa-stem cell therapy

Recommendation and review posted by Bethany Smith

ScienceDaily (July 10, 2012) Black skin cancer, also known as melanoma, is particularly aggressive and becoming increasingly common in Switzerland. Despite intensive research, however, there is still no treatment. Researchers from the University of Zurich have now discovered a gene that plays a central role in black skin cancer. Suppressing this gene in mice inhibits the development of melanoma and its proliferation -- a discovery that could pave the way for new forms of therapy.

Until recently, it was assumed that a tumor was composed of many equivalent cells that all multiply malignantly and can thus contribute towards tumor growth. According to a more recent hypothesis, however, a tumor might also consist of malignant cancer stem cells and other less aggressive tumor cells. Normally, stem cells are responsible for the formation of organs. Cancer stem cells can divide in a very similar way and develop into other tumor cells to form the tumor. Efficient tumor therapy thus primarily needs to fight cancer stem cells. Consequently, a team of stem-cell researchers from the University of Zurich headed by Professor Sommer decided to find out whether mechanisms that are important for normal stem cells also play a role in cancer stem cells.

Regulating gene discovered in tumor

Melanoma cells are rogue skin-pigment cells formed by so-called neural crest stem cells during embryonic development. Professor Sommer's group teamed up with dermatologists and pathologists to investigate whether cells with characteristics of these specific stem cells are present in human tumor tissue. "This was indeed the case, as we were able to prove based on numerous biopsies performed on melanoma patients," says Sommer. In particular, one gene that effectively controls the stem-cell program was highly active in all the tumor tissue studied. This gene, which is known as "Sox10," is essential for cell division and the survival of stem cells.

Gene suppression inhibits cancer

The next step for the Zurich researchers was to test how Sox10 works in human melanoma cells. They determined that the gene also controls a stem-cell program in cancer cells and is necessary for cell division. In order to corroborate these findings in a living organism, the researchers ultimately used a mouse which carried similar genetic mutations to those found in human melanoma and thus developed black skin cancer spontaneously. Astonishingly, the suppression of Sox10 in this animal model completely inhibited the formation and spread of cancer.

"Our research demonstrates that a tumor could probably be treated by attacking its stem cells," concludes Sommer. The results also illustrate that such studies can primarily be successful through the close collaboration and conscious use of synergies between basic researchers and clinicians.

Share this story on Facebook, Twitter, and Google:

Other social bookmarking and sharing tools:

Story Source:

Read the original here:
Melanoma-promoting gene discovered

Recommendation and review posted by Bethany Smith

Some doctors are asking if athletes should be genetically tested to see if they are at a greater risk for developing Alzheimer's disease or dementia.

Dr. Steven DeKosky is the dean of the University of Virginia School of Medicine. He says there is more evidence that suggests repeated head injuries can cause memory loss later in life, and genes could play a role in increasing the risk.

According to Dr. DeKosky, there are ethical concerns about telling people what their genetic makeup is because it doesn't necessarily confirm they will develop memory loss diseases.

"We have a difficult habit of thinking that if I have this particular variant of a gene that I'm going to get the disease and if I don't have it I'm not going to get the disease and they're not that predictive," Dr. DeKosky said.

An informal poll taken of experts in Alzheimer's disease and traumatic brain injury revealed 45% thought it was too early to introduce genetic testing in schools, and that more information is needed to discuss how the genetic testing would be useful.

There are more than five million Americans living with Alzheimer's disease. This year alone caring for those patients will cost an estimated $200 billion.

Dr. DeKosky said efforts need to be made to find a way to delay or stop the progression of the disease in hopes of reducing those costs.

"If we could delay the disease by five years, several decades down the line we would have 50% fewer cases," says Dr. DeKosky.

See the rest here:
Genetic Testing for Athletes

Recommendation and review posted by Bethany Smith

Editor's Choice Main Category: Genetics Article Date: 09 Jul 2012 - 12:00 PDT

Current ratings for: Gene Discovered By Scientists Linked To Facial Abnormalities

The finding was published in The American Journal of Human Genetics and was conducted by Dr. Hyung-Goo Kim, molecular geneticist at the Medical College of Georgia at Georgia Health Sciences University and his team.

The researchers discovered the PHG21A mutated gene in patients with Potocki-Shaffer syndrome, a rare disorder that can result in significant abnormalities, like a small head and chin as well as intellectual disability.

The researchers conducted experiments in zebrafish, which developed similar head and brain abnormalities to those found in humans and discovered that their findings were confirmed when they suppressed the PHF21A gene in zebrafish.

Dr. Kim explained:"With less PHF21A, brain cells died, so this gene must play a big role in neuron survival."

To reconfirm their finding, the team inserted the gene back into the malformed fish, which subsequently became normal. The gene was also found in the craniofacial area of normal mice. Even though it is impossible to cure humans just by re-inserting the normal gene as is possible in zebrafish, the researchers believe that their finding will, in the future, allow genetic screening and possibly early intervention during fetal development, as well as treatments to increase PHF21A levels. In addition, the finding provides more insight into a better understanding of face, skull and brain formation.

The team focused on the gene when they used a distinctive chromosomal break found in patients with Potocki-Shaffer syndrome as a starting point. Chromosomes, i.e. packages of DNA and protein, are not supposed to break. However, when they do, they can damage nearby genes. Co-author of the study, Dr. Lawrence C. Layman, who is Chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics, explained: "We call this breakpoint mapping and the breakpoint is where the trouble is."

Damaged genes can no longer retain their optimum function. In PHF21A's case for instance the functionality is reduced to about half of the norm.

Layman continues: "When you see the chromosome translocation, you don't know which gene is disrupted. You use the break as a focus then use a bunch of molecular techniques to zoom in on the gene."

Go here to read the rest:
Gene Discovered By Scientists Linked To Facial Abnormalities

Recommendation and review posted by Bethany Smith

CLARENCE, N.Y.--(BUSINESS WIRE)--

22nd Century Group, Inc. (OTCBB: XXII), a company that has developed groundbreaking technology for tobacco harm reduction and smoking cessation products, today announced that the State Intellectual Property Office of the People's Republic of China issued a Notice of Allowance and IP Australia issued a patent to the company for the NBB gene, a gene responsible for nicotine production in the tobacco plant.

International Patent Application PCT/IB2006/001741, from which the Chinese and Australian national-phase patents were derived, covers methods for producing tobacco plants with reduced nicotine levels and tobacco products produced therefrom. Besides nicotine, NBB is also responsible for the production of other nicotinic alkaloids, such as anatabine and anabasine.

The NBB gene encodes a protein involved in the final step of nicotine biosynthesis, nicotine synthase, which has eluded scientists for decades. This protein can either be down-regulated or up-regulated to produce tobacco varieties with a wide range of nicotine levels. Dr. Takashi Hashimoto of the Nara Institute of Science and Technology (NAIST), a world-renowned plant molecular biologist, is an inventor of the NBB technology. 22nd Century funded research and development at NAIST from 2005 to 2009 and NAIST assigned various related patent families to 22nd Century in 2010, including the NBB technology. International Patent Application PCT/IB2006/004043 covers methods utilizing NBB for producing tobacco plants and products with increased nicotine levels.

The companys vice president of research and development, Dr. Michael Moynihan stated, The NBB gene technology is one of the keystones of 22nd Centurys intellectual property and represents our second-generation gene technology that has significant advantages over our earlier technology. Specifically, the sole function of NBB is to produce nicotine and other nicotinic alkaloids.

22nd Century expects the NBB gene technology to play an important role in reducing the harm caused by smoking. The company announced on April 10, 2012 that it will file applications with the U.S. Food and Drug Administration (FDA) for two types of modified risk cigarettes in accordance with the FDAs Modified Risk Tobacco Product Applications Draft Guidance. A presentation titled, Effect of Smoking Low Tar-to-Nicotine Ratio Cigarettes on Smoke Exposure, will be given by 22nd Century Group at the 66th Tobacco Science Research Conference being held in Concord, North Carolina on September 9-12. The presentation will summarize 22nd Centurys planned exposure study on one of its two modified-risk cigarette candidates.

22nd Century owns or is the exclusive licensee of 102 issued patents in 78 countries plus an additional 37 pending patent applications mainly related to all of the key nicotine biosynthesis genes and the potential modified risk tobacco products produced therefrom. 22nd Century owns or is the exclusive licensee of 6 patents in China plus 2 pending patent applications and 5 patents in Australia. Additional patent applications will be filed by the company in both countries. China is the largest tobacco market in the world that consumes more than 2 trillion cigarettes per year.

For additional information, please visit: http://www.xxiicentury.com

Cautionary Note Regarding Forward-Looking Statements: This press release contains forward-looking information, including all statements that are not statements of historical fact regarding the intent, belief or current expectations of 22nd Century Group, Inc., its directors or its officers with respect to the contents of this press release. The words may, would, will, expect, estimate, anticipate, believe, intend and similar expressions and variations thereof are intended to identify forward-looking statements. We cannot guarantee future results, levels of activity or performance. You should not place undue reliance on these forward-looking statements, which speak only as of the date that they were made. These cautionary statements should be considered with any written or oral forward-looking statements that we may issue in the future. Except as required by applicable law, including the securities laws of the United States, we do not intend to update any of the forward-looking statements to conform these statements to reflect actual results, later events or circumstances or to reflect the occurrence of unanticipated events. You should carefully review and consider the various disclosures made by us in our annual report on Form 10-K for the fiscal year ended December 31, 2011, filed on April 16, 2012, including the section entitled Risk Factors, and our other reports filed with the U.S. Securities and Exchange Commission which attempt to advise interested parties of the risks and factors that may affect our business, financial condition, results of operation and cash flows. If one or more of these risks or uncertainties materialize, or if the underlying assumptions prove incorrect, our actual results may vary materially from those expected or projected.

Read more here:
Chinese and Australian Patents Allowed for 22nd Century’s NBB Nicotine Biosynthesis Gene

Recommendation and review posted by Bethany Smith

Public release date: 9-Jul-2012 [ | E-mail | Share ]

Contact: Deborah Mann Lake deborah.m.lake@uth.tmc.edu 713-500-3030 University of Texas Health Science Center at Houston

HOUSTON (July 9, 2012) Research teams from The University of Texas Health Science Center at Houston (UTHealth) and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms. The new syndrome is similar, but distinct from known syndromes such as Marfan and Loeys-Dietz syndrome.

Genome-wide analysis of two unrelated families, one in the United States and one in France, identified mutations in transforming growth factor beta-2 (TGFB2), which plays a key role in the formation of cells in the walls of arteries. These changes can affect the ability of these cells that line the aorta and other blood vessels to function properly, leading to aortic aneurysms and dissections and intracranial aneurysms. Other systemic signs of the new syndrome include groin hernias, pectus deformities, joint hyperflexibility, mitral valve prolapse and skin stretch marks.

The findings were published in the July 8 online of the journal Nature Genetics. The French team included researchers from the Assistance Publique Hopitaux de Paris and the Institut National de la Sante et de la Recherche Medicle (INSERM).

"Identifying this gene as a cause of aortic and intracranial aneurysms can tell us who is at risk in a family before these aneurysms cause an acute aortic dissection or stroke," said Dianna Milewicz, M.D., Ph.D., professor, the President George H.W. Bush Chair in Cardiovascular Research and director of the Division of Medical Genetics at the UTHealth Medical School. "If we know who is at risk, we can prevent these life-threatening complications of these aneurysms before they occur and prevent premature death or disability."

Milewicz is the senior author of the paper, a multi-institutional collaboration. The lead author is Catherine Boileau of INSERM.

Incorrect function of the cells can cause a weakness in the wall of the thoracic aorta, which carries blood from the heart to the rest of the body. The result can be an aneurysm which can lead to a dissection and cause sudden death. An estimated 8,000 people die annually from thoracic aortic aneurysms and dissections (TAAD). Intracranial aneurysms occur in up to 6 percent of adults and are more common in women. Both types of aneurysms are typically asymptomatic and often undetected until a dissection or rupture occurs. Intracranial aneurysms that rupture and bleed into the brain, known as hemorrhagic stroke, have a mortality rate of up to 50 percent, according to the American Heart Association.

For the UTHealth research team, this is the fifth gene defect discovery for thoracic aortic aneurysms and the second with a link to both thoracic aortic aneurysms and intracranial aneurysms.

The researchers found that although the defect caused half of the normal amount of TGFB2 protein, called TGF-beta2, at the cellular level, the actual diseased arteries showed a large increase in TGF-beta2. "So we believe the body responds to less TGF-beta2 by overcompensating and producing more, causing the disease," said Milewicz, who is also director of the John Ritter Research Program Aortic and Vascular Diseases at UTHealth. "The primary defect is less TGF-beta2 with a secondary response to make more."

See the original post here:
UTHealth, French researchers discover gene defect for new syndrome

Recommendation and review posted by Bethany Smith

Two postings back, I promised a commenter called Sierkovitz that I would discuss epigenetics. This is an important subject with major implications for understanding natural genetic engineering in evolution. So here is the first of at least three related blogs.

"Epigenetics" literally means "over or above genetics." It refers to hereditary changes in genome expression that do not involve alteration of DNA sequences.

Contemporary ideas about epigenetics have two independent historical sources that have subsequently merged in a remarkably satisfying way. The first source was theorizing about cell differentiation and morphogenesis by Conrad "Hal" Waddington, one of the most imaginative and penetrating mid-20th-century geneticists. Waddington realized that a heritable control process was necessary for cells with the same genome to form tissues containing different kinds of cells. In 1942 he called this the "epigenotype," meaning a higher-level regime placed over the genome during development so that different sequences could be expressed in distinct cell types.

The second source of epigenetic ideas came from observations on DNA packaging in the cell. The DNA in our cells would be over 6 feet in length if stretched out, but the nucleus is only about 1 ten-thousandth of an inch across. Clearly, our genomes are densely compacted to fit in such a small volume. Moreover, the packing has to be highly organized so that replication, transcription, chromosome movements, and all other genome functions proceed smoothly.

The historical reality is that cytogeneticists (literally, cell geneticists) had been observing DNA compaction since the 19th century through their microscopes. They described various forms of "chromatin" (i.e., colored material) along the length of chromosomes. The prefix "chroma-" refers to the coloration of chromosomes by various stains used to make them visible. Normal staining was called "euchromatin" (i.e., "true" chromatin), and darker staining was called "heterochromatin" (i.e., "different" chromatin).

Using distinguishable chromatin regions in her maize stocks, the pioneer cytogeneticist Barbara McClintock and her student Harriet Creighton were the first to demonstrate that chromosome physical structure corresponds to a genetic linkage map. From studying what was initially considered a marginal phenomenon in genetics, "position effect variegation," geneticists came to understand that differences between eu- and heterochromatin had a profound impact on genome expression.

Today, we understand that the molecular basis of DNA compaction into chromatin provides the epigenetic control system that Waddington first postulated in the 1940s. The way the chromatin forms regulates how accessible the chromosomal DNA is to proteins and RNA molecules that carry out replication, transcription, repair, recombination, natural genetic engineering, and attachment of protein motors and filaments for moving the genome within the nucleus.

During cell differentiation and development, distinct cell types "index" different regions of the genome into expressed and unexpressed chromatin domains. Thus, the set of encoded functions can be "canalised" (Waddington's term, with British spelling) into those appropriate for each specialized cell type. There are special signals and processes that punctuate the genome for formation into chromatin domains that may span a significant number of separate coding regions.

DNA in chromatin is modified chemically and compacted in two ways:

Cells control chromatin structure exquisitely. They have a chromatin formatting and reformatting system that is a wonder of molecular signaling and control. There are arrays of specialized "chromatin-formatting" enzymes that add or remove methyl groups from the DNA and other enzymes that add or remove various chemical groups from specific amino acids in the "tails" of the histones that peak out from the nucleosomes. These covalent (stable) chemical modifications of the DNA and the histones constitute an intricate code that the cell can read to determine the accessibility status of the underlying DNA, independently of its sequence.

Read more from the original source:
James A. Shapiro: Epigenetics I: Turning a DNA Packaging Problem Into a Developmental Control System

Recommendation and review posted by Bethany Smith

(Phys.org) -- The purple sea urchin could help develop cures for diseases such as Alzheimers and cancer, scientists at the University of St Andrews have discovered.

Creatures, such as the sea urchin and sponge, have been discovered to have a special genetic sequence previously only thought to be used by certain viruses.

Now these sea creatures could inform scientists how to produce a therapeutic response in our own cells.

This latest finding builds on the earlier discovery of a short genetic sequence (2A) caused by viruses which can be used to return cells to a stem-cell like state allowing them to be manipulated and used for special treatments.

Martin Ryan, Professor of Translational Virology at the University of St Andrews, was the key researcher in that discovery.

He said: You could put two or more different genes into one cell, but each individual gene would be expressed at very different levels.

This process allows you to daisy-chain multiple genes into a single gene, but the different proteins made from each part of the new gene are expressed at the same level and within the same cell - which is a massive step forward.

This sequence was first discovered in Foot-and-Mouth Disease Virus, but we now know it is found in many other types of virus. This sequence has been used (by other researchers) in human gene therapy clinical trials to treat a number of cancers: metastatic melanoma, for example. It has also been used to produce human pluripotent stem cells a very important step in regenerative medicine, a treatment in which damaged tissues can be replaced.

It is now possible to take cells from a patient and drive them back into a stem cell state. These patient-specific stem cells could be used to treat a very wide range of diseases - Parkinsons Disease, Alzheimers, heart disease among others.

Prof Ryan added: Since our initial discovery, over the last four or five years the use of this sequence has gone through the roof. There have been more than 560 academic papers published using this new biotechnology.

Read more:
Sea urchins could contain the genetic key to curing some diseases

Recommendation and review posted by Bethany Smith

Newswise ST. LOUIS -- In research funded by the National Institutes of Health and the American Heart Association and published in EMBO Molecular Medicine, Saint Louis University investigator ngel Baldn, Ph.D., found that the microRNA miR-33 plays a key role in regulating bile metabolism. Further, the research suggests that, in an animal model, the manipulation of this microRNA can improve the liver toxicity that can be caused by statins.

As we learn more about the way cholesterol is moved and metabolized through the body, we have more tools at our disposal to try to limit potential side effects of cholesterol-managing drugs like statins, said Baldn, who is assistant professor of biochemistry and molecular biology at Saint Louis University.

This study continues Baldns exploration of the microRNA miR-33, which is expressed from within SREBP-2, an important gene in the body that previously had been shown to regulate cholesterol metabolism. In earlier research, the Baldn laboratory found that miR-33 plays a key role in regulating cholesterol. In particular, his team found that decreasing the levels of the microRNA (which is a piece of genetic coding) helped to raise HDL, or good cholesterol, in an animal model. Five laboratories, including Baldans, simultaneously reported these results in 2010.

Now, as Baldn continues to study the role of miR-33, he has examined two particular bile transporters, ABCB11 and ATP8B1, and found that miR-33 directly regulates these transporters. The research team found that when they silenced miR-33, turning off the microRNAs signal, they caused increases in bile secretion from the liver, so more bile was recovered in the gallbladder.

Further confirming the suspicion that this pathway was responsible for regulating the flow of bile, researchers treated two groups of mice with an anti-miR-33 drug and tracked radioactively labeled cholesterol as it moved through and was eliminated by these animals.

We hypothesized we should see changes in the amount of radioactivity in the cholesterol that was eliminated in the mices feces, depending on whether they were given placebo or anti-miR-33, Baldn said. That is in fact what we found. When the microRNA is silenced, the pathway is enhanced and more cholesterol is passed through.

Bile is produced by the liver to help the body digest dietary lipids. Bile is itself made up, in part, of cholesterol and cholesterol-derived bile acids, and it also serves a key function in controlling the bodys balance of cholesterol.

When the body doesnt secrete and transport bile well, due to an obstruction like a gallstone, or, as examined in this study, because of a genetic variation or medication side effect, bile cannot flow from the liver to the small intestine. The resulting blockage causes cholestasis, a kind of liver damage.

In the final segment of the study, researchers took note of a genetic condition, called progressive familial intrahepatic cholestasis (PFIC), an inherited disease that causes cholestasis and can lead to liver failure. PFIC is caused by defects in the biliary transporters, such as ABCB11 and ATP8B1, the very genes that are regulated by miR-33. Interestingly, the same group of symptoms can occur in a less severe form, called benign recurrent intrahepatic cholestasis (BRIC) in some people with less severe genetic mutations.

Intriguingly, a very small number of patients who take statins develop a syndrome identical to BRIC, a milder version of the same illness experienced by people who have the genetic disease PFIC, Baldn said. In this case, though, statins caused the condition pharmacologically.

More here:
Turning Off Key Piece of Genetic Coding Eliminates Toxic Effect of Statins

Recommendation and review posted by Bethany Smith

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

Knome Inc., the human genome interpretation company, announced today that a leading clinical geneticist, Heidi Rehm, PhD, has joined the companys scientific advisory board.

Dr. Rehm is highly respected and influential figure in clinical genomics, said Martin Tolar, MD, PhD, Chief Executive Officer of Knome. We are very pleased to welcome Dr. Rehm to our scientific advisory board and look forward to her guidance as we deploy our informatics and interpretation technology into the clinic.

Dr. Rehm is a board-certified clinical geneticist who is currently Chief Laboratory Director of theLaboratory for Molecular Medicine at Partners HealthCare Center for Personalized Genetic Medicine as well as Assistant Professor of Pathology and Director of the Clinical Molecular Genetics Training Program at Harvard Medical School. Her research focuses on the rapid translation of new genetic discoveries into clinical tests and on bringing novel technologies and software systems into molecular diagnostics to support the integration of genetics into clinical use. Dr. Rehm also conducts research on hearing loss, Usher syndrome, cardiomyopathy and the use of information technology in enabling personalized medicine. She received a PhD in Genetics from Harvard University and conducted postdoctoral work in Neurobiology, followed by a fellowship at Harvard Medical School in Clinical Molecular Genetics.

Knome has assembled a first-class team of scientific, engineering, and business leadersall focused on tackling a challenging but critically important missionthe interpretation of human genomes for medical and biological relevance, said Dr. Rehm. I am pleased to join Knomes scientific advisory board and look forward to guiding the company as it pursues this mission.

Heidi Rehm joins other members of Knomes scientific advisory board:

About Knome

Knome Inc. (www.knome.com) is a leading provider of human genome interpretation software and services. Clients use our innovative solutions to identify the genetic basis of disease, tumor growth, and drug response. Designed to accelerate the process of interpreting whole genomes and enable the clinical application of genomic findings, Knomes technologies are helping to pave the healthcare industrys transition to molecular-based, personalized medicine.

Excerpt from:
Knome Appoints Heidi L. Rehm, PhD, to Scientific Advisory Board

Recommendation and review posted by Bethany Smith

Public release date: 9-Jul-2012 [ | E-mail | Share ]

Contact: Carrie Bebermeyer bebermcl@slu.edu 314-977-8015 Saint Louis University

ST. LOUIS -- In research funded by the National Institutes of Health and the American Heart Association and published in EMBO Molecular Medicine, Saint Louis University investigator ngel Baldn, Ph.D., found that the microRNA miR-33 plays a key role in regulating bile metabolism. Further, the research suggests that, in an animal model, the manipulation of this microRNA can improve the liver toxicity that can be caused by statins.

"As we learn more about the way cholesterol is moved and metabolized through the body, we have more tools at our disposal to try to limit potential side effects of cholesterol-managing drugs like statins," said Baldn, who is assistant professor of biochemistry and molecular biology at Saint Louis University.

This study continues Baldn's exploration of the microRNA miR-33, which is expressed from within SREBP-2, an important gene in the body that previously had been shown to regulate cholesterol metabolism. In earlier research, the Baldn laboratory found that miR-33 plays a key role in regulating cholesterol. In particular, his team found that decreasing the levels of the microRNA (which is a piece of genetic coding) helped to raise HDL, or "good cholesterol," in an animal model. Five laboratories, including Baldan's, simultaneously reported these results in 2010.

Now, as Baldn continues to study the role of miR-33, he has examined two particular bile transporters, ABCB11 and ATP8B1, and found that miR-33 directly regulates these transporters. The research team found that when they silenced miR-33, turning off the microRNA's signal, they caused increases in bile secretion from the liver, so more bile was recovered in the gallbladder.

Further confirming the suspicion that this pathway was responsible for regulating the flow of bile, researchers treated two groups of mice with an anti-miR-33 drug and tracked radioactively labeled cholesterol as it moved through and was eliminated by these animals.

"We hypothesized we should see changes in the amount of radioactivity in the cholesterol that was eliminated in the mice's feces, depending on whether they were given placebo or anti-miR-33," Baldn said. "That is in fact what we found. When the microRNA is silenced, the pathway is enhanced and more cholesterol is passed through."

Bile is produced by the liver to help the body digest dietary lipids. Bile is itself made up, in part, of cholesterol and cholesterol-derived bile acids, and it also serves a key function in controlling the body's balance of cholesterol.

When the body doesn't secrete and transport bile well, due to an obstruction like a gallstone, or, as examined in this study, because of a genetic variation or medication side effect, bile cannot flow from the liver to the small intestine. The resulting blockage causes cholestasis, a kind of liver damage.

See more here:
Turning off key piece of genetic coding eliminates toxic effect of statins, SLU research finds

Recommendation and review posted by Bethany Smith

ScienceDaily (July 9, 2012) In research funded by the National Institutes of Health and the American Heart Association and published in EMBO Molecular Medicine, Saint Louis University investigator ngel Baldn, Ph.D., found that the microRNA miR-33 plays a key role in regulating bile metabolism. Further, the research suggests that, in an animal model, the manipulation of this microRNA can improve the liver toxicity that can be caused by statins.

"As we learn more about the way cholesterol is moved and metabolized through the body, we have more tools at our disposal to try to limit potential side effects of cholesterol-managing drugs like statins," said Baldn, who is assistant professor of biochemistry and molecular biology at Saint Louis University.

This study continues Baldn's exploration of the microRNA miR-33, which is expressed from within SREBP-2, an important gene in the body that previously had been shown to regulate cholesterol metabolism. In earlier research, the Baldn laboratory found that miR-33 plays a key role in regulating cholesterol. In particular, his team found that decreasing the levels of the microRNA (which is a piece of genetic coding) helped to raise HDL, or "good cholesterol," in an animal model. Five laboratories, including Baldan's, simultaneously reported these results in 2010.

Now, as Baldn continues to study the role of miR-33, he has examined two particular bile transporters, ABCB11 and ATP8B1, and found that miR-33 directly regulates these transporters. The research team found that when they silenced miR-33, turning off the microRNA's signal, they caused increases in bile secretion from the liver, so more bile was recovered in the gallbladder.

Further confirming the suspicion that this pathway was responsible for regulating the flow of bile, researchers treated two groups of mice with an anti-miR-33 drug and tracked radioactively labeled cholesterol as it moved through and was eliminated by these animals.

"We hypothesized we should see changes in the amount of radioactivity in the cholesterol that was eliminated in the mice's feces, depending on whether they were given placebo or anti-miR-33," Baldn said. "That is in fact what we found. When the microRNA is silenced, the pathway is enhanced and more cholesterol is passed through."

Bile is produced by the liver to help the body digest dietary lipids. Bile is itself made up, in part, of cholesterol and cholesterol-derived bile acids, and it also serves a key function in controlling the body's balance of cholesterol.

When the body doesn't secrete and transport bile well, due to an obstruction like a gallstone, or, as examined in this study, because of a genetic variation or medication side effect, bile cannot flow from the liver to the small intestine. The resulting blockage causes cholestasis, a kind of liver damage.

In the final segment of the study, researchers took note of a genetic condition, called progressive familial intrahepatic cholestasis (PFIC), an inherited disease that causes cholestasis and can lead to liver failure. PFIC is caused by defects in the biliary transporters, such as ABCB11 and ATP8B1, the very genes that are regulated by miR-33. Interestingly, the same group of symptoms can occur in a less severe form, called benign recurrent intrahepatic cholestasis (BRIC) in some people with less severe genetic mutations.

"Intriguingly, a very small number of patients who take statins develop a syndrome identical to BRIC, a milder version of the same illness experienced by people who have the genetic disease PFIC," Baldn said. "In this case, though, statins caused the condition pharmacologically.

Read more:
Turning off key piece of genetic coding eliminates toxic effect of statins, study suggests

Recommendation and review posted by Bethany Smith

23andMe has named Andy Page to its board of directors. He currently serves as president of Gilt Group. Previously he served as chief operating and financial officer at PlayPhone; chief financial officer and senior vice president of business strategy at StubHub; and has held senior executive positions at Panasas, ONI Systems, and Robertson Stephens & Company.

Sera Prognostics has named Sherree Frazier to be VP of sales and marketing. Frazier will head the company's commercial activities, including development and launch of the ProNid diagnostic test to predict preterm birth risk. Frazier formerly was senior director of molecular diagnostics and head of North American clinical sales at Qiagen, and prior to that she was women's health manager at Adeza Biomedical, before it was acquired by Cytyc.

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.

See the original post:
Population Genetics, Autism Research Centre to Study Asperger Variants

Recommendation and review posted by Bethany Smith

ScienceDaily (July 9, 2012) The challenge of treating patients with genetic disorders in which a single mutated gene is simply too large to be replaced using traditional gene therapy techniques may soon be a thing of the past. A Nationwide Children's Hospital study describes a new gene therapy approach capable of delivering full-length versions of large genes and improving skeletal muscle function. The strategy may hold new hope for treating dysferlinopathies and other muscular dystrophies.

A group of untreatable muscle disorders known as dysferlinopathies are caused by mutations in the dysferlin gene. Patients with these disorders, including limb girdle muscular dystrophy type 2B, are typically diagnosed in their early twenties. Approximately one-third will become wheelchair dependent by their mid-30s.

Gene therapy using adeno-associated virus (AAV) to deliver genes to cells has been pursued as an option for some patients with muscular dystrophy. However, AAV's packaging limitations have served as obstacles in using gene therapy to deliver large genes like dysferlin. Scientists in the past have attempted to work around AAV's packaging limitations by inserting a small version of large genes into the viral vector to induce gene expression. Some have also used more than one viral vector at a time to deliver a large gene. However, micro and mini versions of large genes don't always have the power of full-length gene expression and an increased viral load can lead to negative side effects.

"We have had success in the clinic using AAV gene therapy with limb girdle muscular dystrophy type 2D, which is caused by mutations in the alpha-sarcoglycan gene," said Louise Rodino-Klapac, PhD, principal investigator in the Center for Gene Therapy at The Research Institute of Nationwide Children's Hospital. "However, the dysferlin gene is very large, about six times larger than the alpha-sarcoglycan gene and can't fit into a traditional AAV vector."

A 2008 study identified AAV5, an AAV serotype that could package large transcripts. "This made us wonder whether it could be used for gene replacement requiring inserts as large as the dysferlin gene," said Dr. Rodino-Klapac.

In their 2012 study appearing in PLoS ONE, Dr. Rodino-Klapac's team used AAV5 to package a full-length, intact dysferlin gene and directly deliver it to the diaphragm of dysferlin-deficient mice. They also injected the leg muscles of dysferlin-deficient mice using both intramuscular and vascular approaches to further evaluate whether the gene delivery could improve skeletal muscle function.

They found that both the intravascular and intramuscular delivery approaches led to full-length, intact dysferlin gene expression in the leg and diaphragm muscle cells of the mice. More importantly, they saw that the newly-restored dysferlin repaired membrane deficits previously seen in the dysferlin-deficient mice.

"Our findings demonstrate highly favorable results with full restoration of dysferlin without compromise in function," said Dr. Rodino-Klapac. "With regard to neuromuscular diseases, these studies provide new perspective for conditions caused by mutations of large genes. Duchenne muscular dystrophy is the most common severe childhood muscular dystrophy and would seem to benefit from expression of the larger transcripts than mini- and micro-dystrophins that only partially restore physiologic function in mouse models of the disease."

Dr. Rodino-Klapac and her team are currently defining a path for a dysferlin clinical gene therapy trial. "We have shown that AAV5-dysferlin delivery is a very promising therapeutic approach that could restore functional deficits in dysferlinopathy patients," she says.

Share this story on Facebook, Twitter, and Google:

The rest is here:
New gene transfer strategy shows promise for limb girdle and other muscular dystrophies

Recommendation and review posted by Bethany Smith

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/kxltqj/gene_therapy_marke) has announced the addition of the "Gene Therapy Market to 2018 - Product Development Slowed by Clinical Failures, Close Regulatory Surveillance and High Compliance Standards" report to their offering.

Gene Therapy: the Next Big Step in Cancer Treatments.

The fight against cancer is leading a new movement in gene therapy, as the failure of conventional cancer therapies is fuelling demand for new treatments, according to a new report by healthcare experts GBI Research.

The new report* states that gene therapy technology is still in its nascent stage, and high levels of regulatory surveillance in clinical development is affecting progress. However, the increasing potential of upcoming treatments and shortcomings in traditional therapies is gradually leading to broader acceptance of gene therapy in medicine.

Therapies such as chemotherapy and hormone therapy control the progression of diseases, but are often associated with severe side effects, such as nausea, hair loss and abnormal blood cell counts. Once administered, the drugs induce systemic action throughout the body, and patients often die due to the side effects of treatment rather than the cancer itself. The inability of these conventional therapies to cure diseases has created a significant unmet need in the treatment of cancer, as well as Human Immunodeficiency Virus (HIV), autoimmune diseases, and viral infections.

Targeted therapies such as monoclonal antibodies, stem cell therapies, Ribonucliec Acid (RNA) therapies and gene therapies have initially shown better efficacy and safety profiles compared to chemotherapies.

Gene therapy has several promising drug candidates, which are likely to drive the growth of the gene therapy market if clinical trials are successful. Collategene by AnGes MG, Cardium Therapeutics' Generx, and Vical Incorporation's Allovectin-7 are in development for a wide range of cancer indications, and are expected to compete in the oncology therapeutics market as the market acceptance of gene therapy improves over time.

Companies Mentioned

- ReGenX Biosciences

Read the original:
Research and Markets: Gene Therapy Market to 2018 - Product Development Slowed by Clinical Failures, Close Regulatory ...

Recommendation and review posted by Bethany Smith

IRVINE, Calif. and AMSTERDAM, July 9, 2012 /PRNewswire/ -- Agendia, an innovative molecular cancer diagnostics company and leader in personalized medicine, today announced a key addition to their executive team with the appointment of Glen Fredenberg as CFO and Vice President of Finance.

"It is a very exciting time with the recent launch of Agendia's Symphony suite of tests in an FFPE format as well as the ColoPrint recurrence test for stage II colon cancer prognosis and prediction," said Fredenberg. "As a cohesive executive team, we are poised to bring Agendia to the next level."

Fredenberg has more than twenty years of experience with financial management and corporate governance, primarily in the clinical laboratory industry. Previously, Fredenberg was the CFO at US Labs in Irvine, California, which grew from $1 million in revenue to more than $80 million in revenue and was then successfully sold to LabCorp in 2005. Most recently, he has been the CFO at Clarient in Aliso Viejo, California, which has grown to $140 million in revenue and was successfully sold to GE Healthcare in late 2010. Fredenberg holds a Bachelor of Science in Business Administration from California State University, Fullerton, and is a licensed Certified Public Accountant.

"The addition of Glen Fredenberg to our executive team will have a tremendous impact on Agendia and will accelerate our progress in the molecular diagnostics industry," said David Macdonald, CEO of Agendia. "Our team is focused on the commercialization of our current breast and colon cancer Symphony suite of tests as well as the development of our personalized medicine pipeline."

About Agendia:

Agendia is a leading molecular diagnostic company that develops and markets genomic-based diagnostic products, which help support physicians with their complex treatment decisions. Agendia's breast cancer Symphony suite was developed using unbiased gene selection, analyzing the complete human genome, ensuring 100% definitive results for cancer patients. Symphony includes MammaPrint, the first and only FDA-cleared IVDMIA breast cancer recurrence assay, as well as BluePrint, a molecular subtyping assay, TargetPrint, an ER/PR/HER2 expression assay, and TheraPrint, an alternative therapy selection assay. Together, these tests help physicians determine a patient's individual risk for metastasis, which patients will benefit from chemo, hormonal, or combination therapy, and which patients do not require these treatments and can instead be treated with other less arduous and less costly methods.

In addition to the Symphony suite of tests, Agendia has a rich pipeline of genomic products in development. The company collaborates with pharmaceutical companies, leading cancer centers and academic groups to develop companion diagnostic tests in the area of oncology and is a critical partner in the ISPY-2 and MINDACT trials.

For more information, please visit http://www.agendia.com.

For further information, please contact: Post+Beam Melissa Hurley Tel: +1 646 442 2773 E-mail: hurley@postandbeam.is

Read more:
Agendia Names Industry Veteran Glen Fredenberg CFO and Vice President of Finance

Recommendation and review posted by sam

BETHLEHEM, Pa., July 9, 2012 /PRNewswire/ -- Saladax Biomedical, Inc., a privately held company developing and commercializing novel diagnostic assays to achieve the promise of personalized medicine for new and existing therapeutics, announced today the company has achieved CE mark registration for its MyPaclitaxel and MyDocetaxel therapeutic dose management (TDM) MyCare assays, enabling commercialization in the European Union (EU).

Saladax's MyCare technology platform offers automated, rapid, robust and cost-effective in vitro diagnostic tests for patient-specific chemotherapy dose optimization. These new tests enable a physician to determine the optimal treatment effectiveness/toxicity balance for each unique patient.

"We are gratified to expand our offering of MyCare tests to cancer patients in the EU," said Kevin M. Harter, president and CEO of Saladax. "There is a significant need to provide patients personalized drug dosing to achieve optimal therapeutic benefits while at the same time maintaining a high quality of life. Our MyCare tests, which measure the concentration of paclitaxel or docetaxel in patients' blood, give oncologists the objective information they need to adjust their patients' dose to their individual needs. Adding MyPaclitaxel and MyDocetaxel to the already available My5-FU assay will allow us to help an even broader segment of patients."

Approximately 225,000 cancer patients in the EU are treated with the taxane drugs annually. Paclitaxel is predominantly used to treat ovarian, breast, non-small cell lung (NSCLC) and uterine cancers. Similarly, docetaxel is used to treat breast cancer and NSCLC, but is also an important component of prostate and head and neck cancer treatment regimens. Both of these drugs cause serious toxic side effects, with upwards of 80% to 90% of patients suffering fromlow white blood cell counts that leave patients susceptible to serious and even life-threatening infections.

Both paclitaxel and docetaxel are typically dosed based on a body surface area (BSA) calculation, which does not account for how individuals absorb and clear medications from their bloodstream. Research has demonstrated that patients' reactions to receiving similar BSA-based doses of paclitaxel and docetaxel can vary dramatically. For example, patients receiving the same initial amount of these chemotherapy drugs have been found to metabolize them at very different rates resulting in different levels in the bloodstream. When a patient metabolizes the drug too quickly, there is not enough drug in the bloodstream to kill the cancer cells. Conversely, when a patient metabolizes the drug too slowly, the drug blood level can be very high and cause toxicity. This can compromise treatment benefits to patients and cause premature termination of treatment. Saladax developed the MyPaclitaxel and MyDocetaxel assays to enable oncologists to measure their patients' blood drug levels and adjust the dose for those who are at high risk of serious side effects.

Saladax Biomedical develops novel diagnostic assays for the practical delivery of personalized medicine. Our proprietary line of MyCare assays improves the efficacy of existing drugs by optimizing the dose administered for each individual patient. Saladax's initial focus is oncology, with a portfolio of 13 chemotherapy drug assays in various stages of development. Three MyCare assays, My5-FU, MyPaclitaxel and MyDocetaxel, are currently offered to the oncology community in some markets.

The company's MyCre technology platform is broad and flexible, enabling wide application in many therapeutic categories. This technology capability also enables Saladax to serve as a valuable partner to pharmaceutical and biotechnology companies in the development of companion diagnostics (CDx), addressing multiple risks and challenges encountered in drug development.

The company was founded in 2004 and is headquartered in Bethlehem, Pennsylvania. Saladax is ISO 13485:2003 certified.

Saladax Biomedical, Inc. Adrienne Choma, Esq. Sr. VP & Chief Marketing Officer achoma@saladax.com

Media Contact: Tiberend Strategic Advisors, Inc. 212-827-0020 Andrew Mielach amielach@tiberend.com or Claire Sojda csojda@tiberend.com

Continued here:
Saladax Biomedical, Inc. Extends Availability of its MyCare™ Portfolio in Europe

Recommendation and review posted by sam