Archive for the ‘Gene Therapy Research’ Category

Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 7 - Peanut Butter Poisoning
Stefan and Heather work hard on raising up Addison to the best of their abilities. A slight glitch brings question marks to the legitimacy of the Underwood m...

By: Llandros09

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Let's Play The Sims 3 - Perfect Genetics Challenge - Episode 7 - Peanut Butter Poisoning - Video

Life before genetics: autogenesis, and the outer solar system - Terrence Deacon (SETI Talks)
SETI Talks archive: http://seti.org/talks The investigation of the origins of life has been hindered by what we think we know about current living organisms....

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Life before genetics: autogenesis, and the outer solar system - Terrence Deacon (SETI Talks) - Video

Cancer genetics key to advancing treatment
Findings from two new cancer studies yield the best evidence yet that cancer may be better defined by its genetics than the organ in which it originates. The...

By: UMassMedicalSchool

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Cancer genetics key to advancing treatment - Video

2013 Edition of the PCB3063 Genetics Poster Presentation -Health Science Center Libraries

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2013 Edition of the PCB3063 Genetics Poster Presentation -Health Science Center Libraries - Video

SLU Genetics Expert on Angelina Jolie #39;s Double Mastectomy
Saint Louis University Cancer Center Genetics Expert, Dr. Suzanne Mahon talks about Angelina Jolie #39;s preventive double mastectomy to reduce her risk of breas...

By: SaintLouisUniversity

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SLU Genetics Expert on Angelina Jolie's Double Mastectomy - Video

Immunology Lecture 11 Part 9 (class switching) Genetics of Immunoglobulin Diversity
This video and its companions are uploaded on http://usmlestrategy99.com/usmle-step-1/immunology/itemlist/category/2-immunology-videos) Immunoglobulins are ...

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Immunology Lecture 11 Part 9 (class switching) Genetics of Immunoglobulin Diversity - Video

SEATTLE, May 17, 2013 /PRNewswire/ --Atossa Genetics, Inc. (ATOS), The Breast Health Company, announced today that Kyle Guse, Chief Financial Officer & General Counsel, will present at the Second Annual Marcum LLP MicroCap Conference on Thursday, May 30, 2013, in New York City at the Grand Hyatt Hotel.

The Company's presentation is scheduled to begin at 3:30 p.m. EDT and will be available via a live webcast. To access the webcast, go to http://www.atossagenetics.com.

For more information and registration, please visit the conference website: http://www.marcumllp.com/microcap.

About Atossa Genetics, Inc.

Atossa Genetics, Inc. (NASDAQ: ATOS; http://www.atossagenetics.com), The Breast Health Company, is based in Seattle, WA, and is focused on preventing breast cancer through the commercialization of patented diagnostic medical devices and patented laboratory developed tests that can detect precursors to breast cancer up to eight years before mammography, and through research and development that will permit it to commercialize treatments for pre-cancerous lesions.

The National Reference Laboratory for Breast Health (NRLBH), a wholly owned subsidiary of Atossa Genetics, Inc., is a CLIA-certified high-complexity molecular diagnostic laboratory located in Seattle, WA. The NRLBH provides the patented ForeCYTE Breast Health Test, a risk assessment test for women 18 to 73 years of age akin to the Pap Smear, and the ArgusCYTE Breast Health Test, a blood test for recurrence in breast cancer survivors that provides a "liquid biopsy" for circulating breast cancer cells and a tailored treatment plan for patients and their caregivers.

Forward-Looking Statements

Forward-looking statements in this press release are subject to risks and uncertainties that may cause actual results to differ materially from the anticipated or estimated future results, including the risks and uncertainties associated with actions by the FDA, regulatory clearances, responses to regulatory matters, Atossa's ability to continue to manufacture and sell its products, the efficacy of Atossa's products and services, the market demand for and acceptance of Atossa's products and services, performance of distributors and other risks detailed from time to time in Atossa's filings with the Securities and Exchange Commission, including without limitation its registration statement on Form S-1 filed April 5, 2013, and periodic reports on Form 10-K and 10-Q, each as amended and supplemented from time to time.

About Marcum LLP

Marcum LLP is one of the largest independent public accounting and advisory services firms in the nation. Ranked among the top 15, Marcum LLP offers the resources of 1,000 professionals, including over 125 partners, in more than 20 offices throughout New York, New Jersey, Massachusetts, Connecticut, Pennsylvania, California, Florida, Grand Cayman and China. Headquartered in New York City, the Firm's presence runs deep with full-service offices strategically located in major business markets. Marcum is a member of the Marcum Group, an organization providing a comprehensive range of professional services spanning accounting and advisory, technology solutions, wealth management, and executive and professional recruiting. The Marcum Group companies include Marcum LLP; Marcum Technology LLC; Marcum Search LLC; Marcum Financial Services LLC; Marcum Bernstein & Pinchuk LLP; MarcumBuchanan Associates LLC; and Marcum Cronus Partners LLC.

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Atossa Genetics to Present at the Second Annual Marcum LLP MicroCap Conference

Dr. Eric Pierce on Gene Therapy
http://www.fightblindness.org | Eric Peirce M.D., Ph.D., of Mass Eye and Ear and Harvard Medical School, discusses how gene therapy is making waves as a promising a...

By: FndFightingBlindness

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Dr. Eric Pierce on Gene Therapy - Video

Dr. Jean Bennett on Gene Therapy
http://www.fightblindness.org | Jean Bennett M.D., Ph.D., of the University of Pennsylvania School Of Medicine, discusses how gene therapy is making waves as a prom...

By: FndFightingBlindness

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Dr. Jean Bennett on Gene Therapy - Video

Dr. Bill Hauswirth on Gene Therapy
http://www.fightblindness.org | William Hauswirth, Ph.D., of the University of Florida College of Medicine, discusses how gene therapy is making waves as a promisin...

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Dr. Bill Hauswirth on Gene Therapy - Video

Dr. Jeff Chulay on Gene Therapy
http://www.fightblindness.org | Jeff Chulay, M.D., of the Applied Genetics Technologies Corporation, discusses how gene therapy is making waves as a promising area ...

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Dr. Jeff Chulay on Gene Therapy - Video

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/hw9hf4/cardiovascular) has announced the addition of Jain PharmaBiotech's new report "Cardiovascular Drug Delivery - Technologies, Markets and Companies" to their offering.

Drug delivery to the cardiovascular system is different from delivery to other systems because of the anatomy and physiology of the vascular system; it supplies blood and nutrients to all organs of the body. Drugs can be introduced into the vascular system for systemic effects or targeted to an organ via the regional blood supply. In addition to the usual formulations of drugs such as controlled release, devices are used as well. This report starts with an introduction to molecular cardiology and discusses its relationship to biotechnology and drug delivery systems.

Drug delivery to the cardiovascular system is approached at three levels: (1) routes of drug delivery; (2) formulations; and finally (3) applications to various diseases. Formulations for drug delivery to the cardiovascular system range from controlled release preparations to delivery of proteins and peptides. Cell and gene therapies, including antisense and RNA interference, are described in full chapters as they are the most innovative methods of delivery of therapeutics. Various methods of improving systemic administration of drugs for cardiovascular disorders are described including use of nanotechnology.

Cell-selective targeted drug delivery has emerged as one of the most significant areas of biomedical engineering research, to optimize the therapeutic efficacy of a drug by strictly localizing its pharmacological activity to a pathophysiologically relevant tissue system. These concepts have been applied to targeted drug delivery to the cardiovascular system. Devices for drug delivery to the cardiovascular system are also described.

Role of drug delivery in various cardiovascular disorders such as myocardial ischemia, hypertension and hypercholesterolemia is discussed. Cardioprotection is also discussed. Some of the preparations and technologies are also applicable to peripheral arterial diseases. Controlled release systems are based on chronopharmacology, which deals with the effects of circadian biological rhythms on drug actions. A full chapter is devoted to drug-eluting stents as treatment for restenosis following stenting of coronary arteries. Fifteen companies are involved in drug-eluting stents.

New cell-based therapeutic strategies are being developed in response to the shortcomings of available treatments for heart disease. Potential repair by cell grafting or mobilizing endogenous cells holds particular attraction in heart disease, where the meager capacity for cardiomyocyte proliferation likely contributes to the irreversibility of heart failure. Cell therapy approaches include attempts to reinitiate cardiomyocyte proliferation in the adult, conversion of fibroblasts to contractile myocytes, conversion of bone marrow stem cells into cardiomyocytes, and transplantation of myocytes or other cells into injured myocardium.

Advances in molecular pathophysiology of cardiovascular diseases have brought gene therapy within the realm of possibility as a novel approach to treatment of these diseases. It is hoped that gene therapy will be less expensive and affordable because the techniques involved are simpler than those involved in cardiac bypass surgery, heart transplantation and stent implantation. Gene therapy would be a more physiologic approach to deliver vasoprotective molecules to the site of vascular lesion. Gene therapy is not only a sophisticated method of drug delivery; it may at time need drug delivery devices such as catheters for transfer of genes to various parts of the cardiovascular system.

The cardiovascular drug delivery markets are estimated for the years 2012 to 2022 on the basis of epidemiology and total markets for cardiovascular therapeutics. The estimates take into consideration the anticipated advances and availability of various technologies, particularly drug delivery devices in the future. Markets for drug-eluting stents are calculated separately. Role of drug delivery in developing cardiovascular markets is defined and unmet needs in cardiovascular drug delivery technologies are identified.

Selected 81 companies that either develop technologies for drug delivery to the cardiovascular system or products using these technologies are profiled and 78 collaborations between companies are tabulated. The bibliography includes 200 selected references from recent literature on this topic. The report is supplemented with 28 tables and 7 figures.

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Research and Markets: Cardiovascular Drug Delivery - Technologies, Markets and Companies - Updated 2013 Edition

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/c9dmp5/rnai) has announced the addition of Jain PharmaBiotech's new report "RNAi - Technologies, Markets and Companies" to their offering.

RNA interference (RNAi) or gene silencing involves the use of double stranded RNA (dsRNA). Once inside the cell, this material is processed into short 21-23 nucleotide RNAs termed siRNAs that are used in a sequence-specific manner to recognize and destroy complementary RNA. The report compares RNAi with other antisense approaches using oligonucleotides, aptamers, ribozymes, peptide nucleic acid and locked nucleic acid.

Various RNAi technologies are described, along with design and methods of manufacture of siRNA reagents. These include chemical synthesis by in vitro transcription and use of plasmid or viral vectors. Other approaches to RNAi include DNA-directed RNAi (ddRNAi) that is used to produce dsRNA inside the cell, which is cleaved into siRNA by the action of Dicer, a specific type of RNAse III. MicroRNAs are derived by processing of short hairpins that can inhibit the mRNAs. Expressed interfering RNA (eiRNA) is used to express dsRNA intracellularly from DNA plasmids.

Delivery of therapeutics to the target tissues is an important consideration. siRNAs can be delivered to cells in culture by electroporation or by transfection using plasmid or viral vectors. In vivo delivery of siRNAs can be carried out by injection into tissues or blood vessels or use of synthetic and viral vectors.

Because of its ability to silence any gene once the sequence is known, RNAi has been adopted as the research tool to discriminate gene function. After the genome of an organism is sequenced, RNAi can be designed to target every gene in the genome and target for specific phenotypes. Several methods of gene expression analysis are available and there is still need for sensitive methods of detection of gene expression as a baseline and measurement after gene silencing. RNAi microarray has been devised and can be tailored to meet the needs for high throughput screens for identifying appropriate RNAi probes. RNAi is an important method for analyzing gene function and identifying new drug targets that uses double-stranded RNA to knock down or silence specific genes. With the advent of vector-mediated siRNA delivery methods it is now possible to make transgenic animals that can silence gene expression stably. These technologies point to the usefulness of RNAi for drug discovery.

RNAi can be rationally designed to block the expression of any target gene, including genes for which traditional small molecule inhibitors cannot be found. Areas of therapeutic applications include virus infections, cancer, genetic disorders and neurological diseases. Research at academic centers that is relevant to RNAi-based therapeutics is mentioned.

Regulatory, safety and patent issues are discussed. Side effects can result from unintended interaction between an siRNA compound and an unrelated host gene. If RNAi compounds are designed poorly, there is an increased chance for non-specific interaction with host genes that may cause adverse effects in the host. However, there are no major safety concerns and regulations are in preliminary stages as the clinical trials are still ongoing and there are no marketed products. Many of the patents are still pending.

The markets for RNAi are difficult to define as no RNAi-based product is approved yet but several are in clinical trials. The major use of RNAi reagents is in research but it partially overlaps that of drug discovery and therapeutic development. Various markets relevant to RNAi are analyzed from 2012 to 2022. Markets are also analyzed according to technologies and use of siRNAs, miRNAs, etc.

Profiles of 161 companies involved in developing RNAi technologies are presented along with 229 collaborations. They are a mix of companies that supply reagents and technologies (nearly half of all) and companies that use the technologies for drug discovery. Out of these, 33 are developing RNAi-based therapeutics and 35 are involved in microRNAs. The bibliography contains selected 600 publications that are cited in the report. The text is supplemented with 37 tables and 11 figures.

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Research and Markets: RNAi - Technologies, Markets and Companies - Updated 2013 Edition

By Sharon Cotliar

05/16/2013 at 07:00 AM EDT

The announcement not only made headlines around the world, but prompted questions of whether other women need to be concerned if they too carry the mutated gene.

Here are seven things to know:

1. What is BRCA1 and BRCA 2? They're genes everyone has. But those who have a bad copy or mutation are at increased risk for developing breast and ovarian cancer.

2. How common is it? Less than 1 percent of people in the U.S. have one of these mutated genes, but the prevalence is higher among Ashkenazi Jews and among those with a personal or family history of breast or ovarian cancer. Still, only 5 percent of the 220,000 cases of breast cancer diagnosed in the U.S. each year are related to the defective genes.

3. What are the odds of inheriting the mutated gene? If one parent has the gene mutation, there's a 50-50 chance of getting a bad copy of the gene. "Both your mother and father's side matters," says Dr. Susan Domchek, director of the Basser Research Center at the University of Pennsylvania.

4. What are the odds of developing breast or ovarian cancer if you have one of the mutated genes? "They're dramatically higher than the general population," says Dr. Mehra Golshan, director of breast surgical services at Brigham and Women's Hospital in Boston.

Between 60 percent to 85 percent develop breast cancer and between 20 percent to 50 percent develop ovarian cancer. "That's why it's important to consider genetic testing if you have a family history," says Dr. Golshan.

5. What can you do about it if you're a carrier? More women are choosing to undergo preventive mastectomies, as Jolie did. Women can also opt to be monitored closely for signs of cancer or precancerous red flags, undergoing more frequent mammograms and MRIs.

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Angelina Jolie's Double Mastectomy: What to Know About the 'Faulty' Gene

Topics: genetics, obesity, women's health

WOMEN battling the bulge may be fighting more than just sweet temptation, according to new research showing a fat gene could be to blame.

Almost a third of women are believed to be affected by a mutated gene that leads to the development of fatty tissue, researchers at Maastricht University in Holland have discovered.

Women who have the gender-specific impaired DNA, called MMP2, are more than two-and-a-half times more likely to gain 15kg or more, the Daily Mail reported.

The researchers traced the weight gains and losses of more than 5000 men and women for 10 years, and analysed the participants' DNA for genes implicated in obesity.

Researcher Dr Freek Bouwman said while MMP2 was common in women who had gained weight, it wasn't in men, the Daily Mail reported.

However, if a woman had MMP2 it did not mean they were doomed to put on weight, said Waitemata specialist in endocrinology, diabetes and general medicine Dr Steven Miller.

>>More Health News

"The investigators also observed women with the MMP2 mutation who did not gain excess weight, and excess weight gain in women without the MMP2 mutation.

"There are also numerous other factors that influence body weight to a greater or lesser degree," he said.

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Junk food gene could be making women fat

MANILA, Philippines - The world-renowned IBM Blue Gene supercomputer has been picked to support the Philippine government's research and development projects.

In a statement, the Department of Science and Technology (DOST), the University of the Philippines (UP) and IBM said this is a milestone among government-private-academe endeavors.

IBM Blue Gene supercomputer will be the platform for select R&D projects focused on reducing poverty, improving government processes and enabling smarter weather management. The supercomputer is expected to arrive soon in the country.

"This is a direct result from the agreement between the DOST and IBM in May 2012, to jointly build a Philippine Systems and Technology R&D Lab to help accelerate national economic growth," said Mariels Almeda Winhoffer, President and Country General Manager, IBM Philippines.

"It is IBMs response to President Aquinos call for help to support research and development projects to enable transformation and progress in the country. The IBM Blue Gene supercomputer is our concrete contribution to advance R&D initiatives in the country," she added.

The DOST and IBM will work on how the supercomputer can complement DOSTs Nationwide Operational Assessment of Hazards (Project NOAH), the governments flagship program and integrated information system for disaster mitigation and climate change.

The IBM supercomputer will enable local scientists to process and gain insights from the massive data collected, to produce faster, more accurate forecasts and improve localized weather prediction for the country.

"The IBM Blue Gene supercomputer will be most applicable to DOSTs major programs such as NOAH and Smart Agriculture. First we will work toward Blue Genes integration to Project NOAH to provide more advanced seven-day local weather forecasts. We can also use it to run various weather models and validate the accuracy of results almost real-time," said Science Secretary Mario G. Montejo.

"Smart Agriculture, the newest flagship program of the DOST, will also gain from our newest supercomputing capability in modeling climate change scenarios, building database for agricultural land use, and computing for monthly irrigation requirements per province," he added.

The IBM Blue Gene supercomputer can also be used for other projects for flood management and genomics.

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DOST taps IBM Blue Gene supercomputer

Public release date: 16-May-2013 [ | E-mail | Share ]

Contact: Kathryn Ruehle kruehle@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, May 16, 2013As scientists learn more about processing bodies (PBs), granules present within normal cells, they are unraveling the complex role PBs play in maintaining cellular homeostasis by regulating RNA metabolism and cell signaling. Emerging research is revealing how virus infection alters PBs to enhance viral replication and how, in turn, PBs are able respond and limit a virus's ability to reproduce. This novel mechanism allows PBs to contribute to the body's immune defenses, as described in an article in DNA and Cell Biology, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the DNA and Cell Biology website at http://www.liebertpub.com/dna.

Asit Pattnaik and Phat Dinh, University of Nebraska-Lincoln, explore the growing knowledge base on PBs and their components, and how they interact with viruses. The authors review the literature and discuss the positive and negative consequences of PB-virus interactions and the potential implications of the role of PBs in RNA processing, cell signaling and survival, and immune function.

In the article "Manipulation of Cellular Processing Bodies and Their Constituents by Viruses," Pattnaik and Dinh describe the mechanism by which viruses may alter the composition of the PBs to benefit viral RNA replication at the expense of host cell homeostasis.

"This brief review highlights one of many important cellular processes that are subverted by viral infection," says Carol Shoshkes Reiss, PhD, Editor-in-Chief, Departments of Biology and Neural Science, New York University, NY. "The sequestration of RNA in the cytoplasm is an under-appreciated regulatory pathway."

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About the Journal

DNA and Cell Biology is the trusted source for authoritative, peer-reviewed reporting on the latest research in the field of molecular biology. By combining mechanistic and clinical studies from multiple systems in a single journal, DNA and Cell Biology facilitates communication among biological sub-disciplines. Coverage includes gene structure, function, and regulation; molecular medicine; cellular organelles; protein biosynthesis and degradation; and cell-autonomous inflammation and host cell response to infection. Complete tables of content and a sample issue may be viewed on the DNA and Cell Biology website at http://www.liebertpub.com/dna.

About the Publisher

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What role do processing bodies play in cell survival and protection against viral infection?

Public release date: 16-May-2013 [ | E-mail | Share ]

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

New Rochelle, May 16, 2013Lethal and rescuer genes are defined as genes that when inactivated result in cell death or enhanced cell growth, respectively. The ability to identify these genes in large-scale automated screening campaigns could lead to the discovery of valuable new drug targets. A genome-wide lethality screen that relies on RNA interference technology and led to the validation of 239 gene candidates essential for cell survival is described in ASSAY and Drug Development Technologies, a peer-reviewed journal published from Mary Ann Liebert, Inc., publishers. The article is available free on the ASSAY and Drug Development Technologies website.

A team of researchers led by Bhavneet Bhinder and Hakim Djaballah, Memorial Sloan-Kettering Cancer Center, New York, NY, present their work in the article "An Arrayed Genome-Scale Lentiviral-Enabled Short Hairpin RNA Screen Identifies Lethal and Rescuer Gene Candidates."

The authors developed a high-stringency analysis method used to determine which genes result in cell death when they are "knocked down." Gene knockdown is achieved via an RNA interference approach, using double-stranded RNA molecules called short hairpin RNAs, or shRNAs. A shRNA binds to a target gene, blocking gene expression. The high-throughput screen is carried out in cells in 384-well microtiter plates.

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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.

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.

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Innovative screening method uses RNA interference technology to identify 'lethal' and 'rescuer' genes

Even celebrities are mortal. They share our genes and, like us, cannot escape their inheritance. Angelina Jolies graceful and dignified account of her encounter with her own mortality in The New York Times will inspire millions.

It will also shine a light on the developing science of genetic diagnosis and DNA profiling which is increasingly allowing patients at high risk of inherited diseases to be identified so that they can take preventive action.

The BRCA1 and BRCA2 genes were the first to be identified in breast and ovarian cancer more than 20 years ago. The presence of faulty versions of the genes increases the risk of the diseases by at least 50 per cent, the exact proportion depending on other factors. Just as the risk varies from woman to woman, so does the response.

In Ms Jolies case it was radical surgery to remove her breasts. About 3,000 women in the UK have done likewise. But for other women the decisions required may be less radical and distressing, involving modifying lifestyle, having regular mammograms or MRI scans or starting a course of preventive drugs.

Only last January, the UKs National Institute for Clinical Excellence recommended for the first time in draft guidance that women at high risk of breast cancer be prescribed the drug tamoxifen or a related drug as a preventive measure. Tamoxifen has been established as a treatment for the disease for decades.

Ms Jolie, however, opted for surgery with its more certain outcome. Doctors told her that her risk was raised by 87 per cent and reduced to 5 per cent by the removal of her breasts. Take away most of the tissue where the cancer develops and you take away most of the risk.

She chose nipple preserving surgery one of the toughest choices women in her position have to make. It meant that some breast tissue was left behind. But after reconstruction with implants, her breasts would look normal following the operation which was important to reassure her children.

They can see my small scars and thats it. Everything else is just Mommy, the same as she always was, she wrote.

The maximum protection from the surgery is achieved by removing the maximum amount of tissue. But removal of the nipple is a disfiguring operation and a step too far for many women.

Genetic testing of the kind Ms Jolie underwent is becoming increasingly common. Testing for the presence of specific mutations is already available for a range of cancers, including those of the womb, bowel, stomach and bladder, where the presence of an inherited faulty gene may increase the risk by between 10 and 60 per cent

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Angelina Jolie's double mastectomy puts genetic key to breast cancer in the spotlight

Public release date: 16-May-2013 [ | E-mail | Share ]

Contact: Martha Coventry coven002@umn.edu 612-625-2948 University of Minnesota

MINNEAPOLIS/ST. PAUL (05/15/2012)Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of genome sequencing, an enormous debate has erupted over whether patients' rights will continue in an era of medical genomics.

Recent recommendations from the American College of Medical Genetics and Genomics (ACMG) suggest no. On March 22, the ACMG released recommendations stating that when clinical sequencing is undertaken for any medical reason, laboratories must examine 57 other specific genes to look for incidental findings. These findings must then be reported to the clinician and the patient. In an April 25 "clarification," ACMG said that failure to report these findings would be considered "unethical." The patient has no opportunity to opt-out of the testing of the 57 genes, except to decline all sequencing. The recommendations also apply to children.

In a paper to be published in 'Science 'May 16 online ahead of print, authors Susan M. Wolf, J.D. (University of Minnesota), George J. Annas, J.D., M.P.H. (Boston University), and Sherman Elias, M.D. (Northwestern University) push back against these recommendations, and offer compelling reasons why patient autonomy must remain firmly in place as science advances. Their article on Patient Autonomy and Incidental Findings in Clinical Genomics urges ACMG to reconsider their recommendations. This article is published with a reply by Amy McGuire, J.D., Ph.D. (Baylor College of Medicine) and colleagues.

Wolf, Annas, and Elias argue that, "The ACMG's 'minimum list [of 57 genes]' includes mutations in genes that patients have long been able to refuse testing for, including cancer risk mutations (such as BRCA1) and cardiovascular risk mutations." They point out that "There are many circumstances in which a patient may decline such testing and information, even if the results could open avenues for intervention. The patient may already be battling another disease, such as advanced cancer, or be late in life and see more burden than benefit in added genetic information. The patient may also fear that 'extra' results in their medical record will invite risk of discrimination."

ACMG says that applying these recommendations to children may help adult family members understand their own health risks. However, Wolf et al. point out that "this is exactly what past recommendations have rightly rejected, in limiting genetic testing and disclosure of genetic information to what is medically necessary during childhood." The authors cite long-standing policy discouraging childhood testing for adult-onset conditions. "Delaying testing and return of genetic information not medically useful in childhood allows the child to reach adulthood and then make a choice based on his or her own values."

The ACMG indicates that their list of genes to test without consent will grow. Their report says that laboratories may look for variants in other genes, "as deemed appropriate," and that ACMG will review the roster of 57 genes annually. Wolf et al. voice concern that "As the list expands, so will the scope of testing without consent." The authors urge the importance of patients' rights, especially in an era of genome sequencing when extensive genetic information can be generated on any patient.

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Returning genetic incidental findings without patient consent violates basic rights

A Queensland researcher says actress Angelina Jolie is a great example of the potential benefits of genetic testing.

The Hollywood star revealed this week that she has undergone a preventative double mastectomy after discovering a genetic variation dramatically increased her risk of breast cancer.

Professor Matthew Brown from the University of Queensland has been awarded a Premier's Science Fellowship to research genetic testing for rheumatoid arthritis and tuberculosis.

He says DNA sequencing will be a routine part of medical care within four to five years.

"When you go to a GP or a specialist they will use that genetic information to say, 'well you've got this risk of getting the disease and these symptoms and I think it's likely that you've got a very early case of this'," he said.

"When it's early on we can often treat those diseases much more effectively than once they're established."

Court challenge

Meanwhile, a legal challenge is continuing in Brisbane over patents on genetic material associated with an increased risk of breast and ovarian cancer.

The BRCA1 and BRCA2 cancer genes are subject to commercial patent.

A Federal Court judge extended the patent in a landmark ruling in February, but lawyer Rebecca Gilsenan is working on an appeal against that decision.

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DNA sequencing set to become routine medicine

Public release date: 16-May-2013 [ | E-mail | Share ]

Contact: Rhiannon Bugno Biol.Psych@utsouthwestern.edu 214-648-0880 Elsevier

Philadelphia, PA, May 16, 2013 The relationship between the heritable risk for schizophrenia and low intelligence (IQ) has not been clear. Schizophrenia is commonly associated with cognitive impairments that may cause functional disability. There are clues that reduced IQ may be linked to the risk for developing schizophrenia. For example, reduced cognitive ability may precede the onset of schizophrenia symptoms. Also, these deficits may be present in healthy relatives of people diagnosed with schizophrenia.

In a remarkable new study published in Biological Psychiatry, Dr. Andrew McIntosh and his colleagues at the University of Edinburgh provide new evidence that the genetic risk for schizophrenia is associated with lower IQ among people who do not develop this disorder.

The authors analyzed data from 937 individuals in Scotland who first completed IQ testing in 1947, at age 11. Around age 70, they were retested and their DNA was analyzed to estimate their genetic risk for schizophrenia.

The researchers found that individuals with a higher genetic risk for schizophrenia had a lower IQ at age 70 but not at age 11. Having more schizophrenia risk-related gene variants was also associated with a greater decline in lifelong cognitive ability.

"If nature has loaded a person's genes towards schizophrenia, then there is a slight but detectable worsening in cognitive function between childhood and old age. With further research into how these genes affect the brain, it could become possible to understand how genes linked to schizophrenia affect people's cognitive function," said McIntosh.

These findings suggest that common genetic variants may underlie both cognitive aging and risk of schizophrenia.

"While this study does not show that these common gene variants produce schizophrenia per se, it elegantly suggests that these variants may contribute to declines in intelligence, a clinical feature associated with schizophrenia," commented Dr. John Krystal, Editor of Biological Psychiatry. "However, we have yet to understand the development of cognitive impairments that produce disability in young adulthood, the period when schizophrenia develops for many affected people."

Clearly, more research is necessary, but this new study adds to the growing and substantial effort to understand how the gene variants that contribute to the development of schizophrenia give rise to the cognitive disability commonly associated with it.

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Genetic risk for schizophrenia is connected to reduced IQ

May 16, 2013 Informed consent is the backbone of patient care. Genetic testing has long required patient consent and patients have had a "right not to know" the results. However, as 21st century medicine now begins to use the tools of genome sequencing, an enormous debate has erupted over whether patients' rights will continue in an era of medical genomics.

Recent recommendations from the American College of Medical Genetics and Genomics (ACMG) suggest no. On March 22, the ACMG released recommendations stating that when clinical sequencing is undertaken for any medical reason, laboratories must examine 57 other specific genes to look for incidental findings. These findings must then be reported to the clinician and the patient. In an April 25 "clarification," ACMG said that failure to report these findings would be considered "unethical." The patient has no opportunity to opt-out of the testing of the 57 genes, except to decline all sequencing. The recommendations also apply to children.

In a paper to be published in 'Science 'May 16 online ahead of print, authors Susan M. Wolf, J.D. (University of Minnesota), George J. Annas, J.D., M.P.H. (Boston University), and Sherman Elias, M.D. (Northwestern University) push back against these recommendations, and offer compelling reasons why patient autonomy must remain firmly in place as science advances. Their article on Patient Autonomy and Incidental Findings in Clinical Genomics urges ACMG to reconsider their recommendations. This article is published with a reply by Amy McGuire, J.D., Ph.D. (Baylor College of Medicine) and colleagues.

Wolf, Annas, and Elias argue that, "The ACMG's 'minimum list [of 57 genes]' includes mutations in genes that patients have long been able to refuse testing for, including cancer risk mutations (such as BRCA1) and cardiovascular risk mutations." They point out that "There are many circumstances in which a patient may decline such testing and information, even if the results could open avenues for intervention. The patient may already be battling another disease, such as advanced cancer, or be late in life and see more burden than benefit in added genetic information. The patient may also fear that 'extra' results in their medical record will invite risk of discrimination."

ACMG says that applying these recommendations to children may help adult family members understand their own health risks. However, Wolf et al. point out that "this is exactly what past recommendations have rightly rejected, in limiting genetic testing and disclosure of genetic information to what is medically necessary during childhood." The authors cite long-standing policy discouraging childhood testing for adult-onset conditions. "Delaying testing and return of genetic information not medically useful in childhood allows the child to reach adulthood and then make a choice based on his or her own values."

The ACMG indicates that their list of genes to test without consent will grow. Their report says that laboratories may look for variants in other genes, "as deemed appropriate," and that ACMG will review the roster of 57 genes annually. Wolf et al. voice concern that "As the list expands, so will the scope of testing without consent." The authors urge the importance of patients' rights, especially in an era of genome sequencing when extensive genetic information can be generated on any patient.

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Returning genetic incidental findings without patient consent violates basic rights, experts say

Genetic medicine unit now seeing 800 new cases a year in bid to prevent inherited cancers

6:00am Thursday 16th May 2013 in News By Barry Nelson, Health Editor

A GENETIC medicine expert has revealed that a regional breast and ovarian cancer prevention unit set up nearly a decade ago is now seeing 800 new referrals a year.

Dr Paul Brennan, director of the Northern Genetic Service, said referrals of women who have an increased risk of inherited breast or ovarian cancer had steadily increased since the service was established at James Cook University Hospital in Middlesbrough in 2004.

"It was a trickle at first but we are now getting 800 new referrals a year of women with a family history of mainly breast, ovarian and colon cancer," said Dr Brennan, who also works at the International Centre for Life in Newcastle.

Following the admission by actress Angelina Jolie that she has had a double mastectomy to reduce her chances of breast cancer, Dr Brennan said he now expected an increase in the number of North-East women with a family history of breast and ovarian cancer being referred to the Northern Genetic Service.

"When we started the cancer family history service on Teesside in 2004 we didnt know how many patients would be referred. I would have thought that after ten years we would have seen a decline but they are still coming in," he added.

"With around 500 referrals for a family history of breast cancer, this suggests that there are still many families out there."

Using the latest genetic science, specialists can track down family members who are at risk from inherited forms of cancer.

In the most extreme cases, for example where a woman may have a 50 per cent chance of inheriting breast cancer, patients may be advised to have their breasts removed to prevent cancer.

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Genetic medicine unit now seeing 800 new cases a year in bid to prevent inherited cancers

Professor Ting Wu on Harvard Personal Genetics Education Project
Harvard Medical School #39;s Genetics Department Faculty discussion in San Francisco on May 9, 2013 hosted by Reese Jones (here in video 3.3min) Professor Chao-T...

By: Reese Jones

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Professor Ting Wu on Harvard Personal Genetics Education Project - Video