Archive for the ‘Gene Therapy Research’ Category

SALT LAKE CITY, July 24, 2012 (GLOBE NEWSWIRE) -- Myriad Genetics, Inc. (MYGN) today announced that it will issue financial results for the fourth fiscal quarter and fiscal year 2012 following the close of market on Tuesday, August 14, 2012.

The Company will also host a conference call on Tuesday, August 14, 2012 at 4:30 P.M. Eastern to review the financial results. Participating on the call will be: Peter Meldrum, President and Chief Executive Officer, Mark Capone, President of Myriad Genetic Laboratories, Inc. and Jim Evans, Chief Financial Officer.

To listen to the call, interested parties may dial 800-403-7802 or 303-223-2680. All callers will be asked to reference reservation number 21600202.

The conference call will also be available through a live webcast at http://www.myriad.com.

A replay of the call will be available two hours after the end of the call for seven days and may be accessed by dialing 800-633-8284 or 402-977-9140 and entering reservation number 21600202.

About Myriad Genetics

Myriad Genetics is a leading molecular diagnostic company dedicated to making a difference in patient's lives through the discovery and commercialization of transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. Myriad's portfolio of molecular diagnostic tests are based on an understanding of the role genes play in human disease and were developed with a commitment to improving an individual's decision making process for monitoring and treating disease. Myriad is focused on strategic directives to introduce new products, including companion diagnostics, as well as expanding internationally. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com

Myriad, the Myriad logo, BRACAnalysis, Colaris, Colaris AP, Melaris, TheraGuide, Prezeon, OnDose, Panexia and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and foreign countries. MYGN-F, MYGN-G

See the rest here:
Myriad Genetics to Announce Fiscal Fourth Quarter and Fiscal Year 2012 Results on Tuesday, August 14, 2012

Europes drugs regulator has for the first time recommended a gene therapy for approval.

Glybera, a treatment for patients who cannot produce enough of an enzyme that is crucial for breaking down fat, was backed by the European Medicines Agency's (EMA) Committee for Medicinal Products for Human Use (CHMP). This recommendation must be endorsed by the European Commission before the treatment becomes available, but it would be unusual for the commission to reject the recommendation.

Gene therapy involves transferring genes into patients to treat disease. Glybera uses a virus that is injected into the patient to deliver a working copy of a gene for producing lipoprotein lipase (LPL). LPL deficiency is very rare, affecting no more than one or two people in every million.

Back in 2004, China became the first country to approve a gene-therapy product for commercial use, with a treatment for cancer. But Europe and the United States have yet to endorse any gene therapies, and the field has been plagued by safety issues, including carcinogenicity.

Jrn Aldag, chief executive of UniQure, the Amsterdam-based company that owns Glybera, says that the announcement from the EMA is an overdue signal to the gene-therapy community that things are changing. It unlocks the potential, he told Nature. You will see more investment coming.

Timothy Cot, former head of the Office of Orphan Products Development at the US Food and Drug Administration, and who is now an independent consultant, says that the approval is "astounding, fantastic news. It puts Europe at the forefront.

Glybera had previously received negative opinions from both the CHMP and the EMA Committee for Advanced Therapies (CAT), which advises on cutting-edge treatments. However, after re-evaluating the treatment in just those patients who experience severe or multiple attacks of pancreatitis as a result of LPL deficiency, the CAT gave a positive opinion in June, and this has now been endorsed by the CHMP.

Tomas Salmonson, acting chairman of the CHMP, said in a statement that the established ways of assessing the risks and benefits of Glybera had been challenged by the rarity of the condition and uncertainties in the data.

The evaluation of this application has been a very complex process, but the use of Glybera in a more restricted indication than initially applied for, which targets the patient population with greatest need for treatment, and additional analyses by the [CAT] committee have added to the robustness of the data provided and allowed the CHMP to conclude that the benefits of Glybera are greater than its known risks, he said.

The CHMP recommendation was eventually given only under an exceptional circumstances designation. This allows a treatment to be approved in the absence of large-scale clinical trials, and is used for therapies targeting diseases that affect only small numbers of patients for which large-scale trials are almost impossible. Glybera has been tested on 27 patients in three studies. UniQure will have to set up a registry to monitor what happens to patients taking the treatment, and this will be reviewed by the EMA.

Follow this link:
Europe nears first approval for gene therapy

Cambridge gene therapy developer bluebird bio said today it has completed a $60 million Series D financing round, which will be used to advance the companys clinical programs in severe genetic disorders, including childhood cerebral adrenoleukodystrophy, beta-thalassemia and sickle cell disease.

In this round, new investors Deerfield Partners, RA Capital, Ramius Capital Group and two undisclosed blue chip public investment funds joined existing investors ARCH Venture Partners, Third Rock Ventures, TVM Capital and Forbion Capital Partners. In addition, Shire PLC joined the round as a strategic investor.

With the proceeds from this funding and based on early clinical proof of concept results, bluebird bio said it will initiate a Phase 2/3 clinical study in CCALD in both the United States and Europe in 2012, as well as a second U.S.-based Phase 1/2 study in beta-thalassemia in 2013.

In addition, the company expects to initiate a more extensive sickle cell disease development program and invest in manufacturing, clinical and commercial infrastructure to support the upcoming clinical trials and pre-commercial launch activities.

More:
Gene therapy co. bluebird bio raises $60M

THE multiple-birth Booroola gene has been around a long time.

And while it might be named after a property near Cooma, NSW, where it was identified in 1959, its origins are far away.

In the Indian province of West Bengal, where the tiny Garole, a veritable micro sheep (up to 15kg adult ewe), endowed this remarkable quirk in its DNA strand on the rest of the sheep world.

Of course, once DNA becomes involved, the story quickly becomes mired in scientific gobbledegook.

But in a nutshell, the Booroola, or Fec B gene, can, in one generation, fast track your flock from lambing anywhere between the Merino average (75-80 per cent) and prime-lamb averages of 100-plus per cent to 200 per cent.

And more.

At Booroola, near Cooma, lambing rates have touched 270 per cent.

CSIRO researchers in 1959 quickly realised it was one major gene doing all the good work and the race to isolate the Booroola gene was on.

Jump forward 50 years to Cavendish in southwest Victoria, where former DPI researcher and veterinarian Leo Cummins and his wife, Liz, have achieved 202 per cent in their May scanning results.

Leo said he first came across the Booroola gene when he was doing his PhD at Armidale in NSW in the 1970s. It has fascinated him since for its ability to produce more without needing more land, more sheep and more expense.

Read this article:
Booroola gene lifts lambing rates

In my last post,Doing the Undoable, I discussed the rapid development of genetics, particularly genetic engineering. Having the video presentation of Juan Enriquez available helped get the point across. Today, Im going to look at a related area that also raises the possibility of sudden and unexpected change in the not-so-distant future (anytime from tomorrow on).

Once again, Im assisted by the work of another commentator who, like Mr. Enriquez, provides a good overview of other changes that are already underway, but whose impact has yet to be felt by most of us, at least knowingly.

I am referring to an article in Foreign Policy magazine by Dr. Vivek Wadhwa, director of research at the Center for Entrepreneurship and Research Commercialization at Duke University and fellow at the Arthur and Toni Rembe Rock Center for Corporate Governance at Stanford University.

Published on July 17th of this year, it is titled, The Future of Manufacturing Is in America, Not China. Thats a nice provocative title. I will provide a link to the full article (its not that long and free of most technical jargon), but first Ill use his words to briefly summarize four important areas where advances have led him to choose that title.

It all sounds very exciting, full of potential for good things. Dr. Wadhwas summarizes his argument reflected in his articles title when he says, All of these advances play well into Americas ability to innovate, demolish old industries, and continually reinvent itself. The Chinese are still busy copying technologies we built over the past few decades. They havent cracked the nut on how to innovate yet.

Yes, it sounds great, but hold on a minute. Like all things human, the potentially good comes coupled with the potentially bad. I have two very basic concerns.

The first is true of so much that I read these days, including a lot that is written on what the Eurozone has to do to deal with its problems. Oddly enough, those varied European solutions have something in common with the idea that Foxconn plans to install one million robots within three years to do the work that its workers in China presently do. It has found even low-cost Chinese labor to be too expensive and demanding. Too many commentators on the Eurozone today forget that all the zones nations are functioning democracies.

China obviously is not, but even casually following Chinas internal political and economic trends provides plenty of evidence that non-democratic states also have to consider the feelings and fears of their citizens. We are continuously told that the Chinese Communist Party fears uprisings among the people. There is more than one way to vote and get your voice heard.

So Foxconn will replace Chinese workers with robots. Great. That ought to make folks happy in China. But hold on, theres good news. We can do the same in the US! Wonderful, now we have a means of massively increasing US unemployment too! Pardon the sarcasm. Im sure Dr. Wadhwa is well aware that robots will replace human workers who may not be able to find replacement jobs easily or at all. His relatively short article is focused on the good news, so he doesnt try to address problems that might result.

But one sentence stands out as unacceptable to me.The Chinese are still busy copying technologies we built over the past few decades.They havent cracked the nut on how to innovate yet.

Go here to read the rest:
Debunking The Myth That Chinese Can't Innovate

Public release date: 24-Jul-2012 [ | E-mail | Share ]

Contact: Cathia Falvey cfalvey@liebertpub.com 914-740-2165 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, July 24, 2012Hundreds of colleges and universities around the world are offering courses and even graduate degrees in ecopsychology and other forms of environmentally focused psychology. Ecopsychology examines the psychological, spiritual, and therapeutic aspects of human-nature relationships, concern about environmental issues, and responsibility for protecting natural places and other species. Educators are increasingly recognizing the value of integrating psychology and environmental content to help students appreciate the link between their own well-being and that of the natural world around them. Innovative strategies and techniques for exploring the intersection of these disciplines in the classroom are featured in a special issue of Ecopsychology, a peer-reviewed, online journal from Mary Ann Liebert, Inc., publishers. (http://www.liebertpub.com), the issue is available free online at Ecopsychology (http://www.liebertpub.com/eco) website.

As an introduction to the special focus issue of the Journal, the editorial entitled "Teaching Environmentally Focused Psychology (http://online.liebertpub.com/doi/full/10.1089/eco.2012.0062)" says that "so-called 'environmental problems' are really human behavioral problems." Numerous resources are now available to help teachers introduce students to the concept of the interdependence between their physical and psychological health and that of the planet, including the subdisciplines of ecopsychology, environmental psychology, and conservation psychology.

This special issue of Ecopsychology highlights a variety of approaches that incorporate traditional classroom instruction, inquiry-based learning, experiential learning, and teaching in field settings. It describes unique stand-alone courses and recommendations of activities and assignments that educators can incorporate into existing psychology and environmental science curricula.

"Our special issue, 'Teaching Ecopsychology and Environmentally-focused Psychology (http://online.liebertpub.com/toc/eco/4/2),' is one of the first surveys of its kind, and its examples of timely and innovative environmental psychology pedagogy will be a resource and inspiration for educators and students worldwide," says Editor-in-Chief Thomas Joseph Doherty, PsyD, Graduate School of Counseling, Lewis & Clark College (Portland, OR).

###

About the Journal

Ecopsychology (http://www.liebertpub.com/eco) is a peer-reviewed journal that explores the relationship between environmental issues and mental health and well-being. The Journal examines the psychological, spiritual, and therapeutic aspects of human-nature relationships, concern about environmental issues, and responsibility for protecting natural places and other species. It provides a forum for international dialogue among experts from a range of disciplines: psychology and healthcare; environmental conservation, sociology, anthropology, and environmental studies; and related areas such as ecology, landscape restoration, eco-spirituality, and social and environmental justice movements. Complete tables of content and a sample issue may be viewed at the Ecopsychology (http://www.liebertpub.com/eco) website.

About the Publisher

Read the original:
Ecopsychology -- a major new area of study

Public release date: 24-Jul-2012 [ | E-mail | Share ]

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

New Rochelle, NY, July 24, 2012A naturally occurring line of immunodeficient pigs can support the growth of human tumors injected under their skin, offering a promising new large animal model for studying human cancers and testing new drugs and treatment strategies. The ability of human melanoma cells and pancreatic carcinoma cells to grow in these pig models is described in an article in BioResearch Open Access, a new bimonthly peer-reviewed open access journal from Mary Ann Liebert, Inc. (http://www.liebertpub.com). The article is available free online at the BioResearch Open Access website (http://www.liebertpub.com/biores).

Mathew Basel and colleagues, Kansas State University (Manhattan, KS) and Iowa State University (Ames), highlight the advantages that pig disease models offer, as they are anatomically and physiologically more closely related to humans than traditional rodent animal models. As a result, findings from studies in large animal models such as pigs are more likely to translate into similar outcomes in humans. The authors present their findings in the article "Human Xenografts Are Not Rejected in a Naturally Occurring Immunodeficient Porcine Line: A Human Tumor Model in Pigs" (http://online.liebertpub.com/doi/full/10.1089/biores.2012.9902).

"This novel animal model has the potential to become a highly useful model in cancer research studies, in addition to providing significant opportunities for drug discovery and other translational applications," says Editor-in-Chief Jane Taylor, PhD, MRC Centre for Regenerative Medicine, University of Edinburgh, Scotland.

###

About the Journal

BioResearch Open Access (http://www.liebertpub.com/biores) is a bimonthly peer-reviewed open access journal that provides a new rapid-publication forum for a broad range of scientific topics including molecular and cellular biology, tissue engineering and biomaterials, bioengineering, regenerative medicine, stem cells, gene therapy, systems biology, genetics, biochemistry, virology, microbiology, and neuroscience. All articles are published within 4 weeks of acceptance and are fully open access and posted on PubMedCentral. All journal content is available online at the BioResearch Open Access website (http://www.liebertpub.com/biores).

About the Publisher

Mary Ann Liebert, Inc., publishers (http://www.liebertpub.com) 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 Tissue Engineering, Stem Cells and Development, Human Gene Therapy and HGT Methods, and AIDS Research and Human Retroviruses. 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. website (http://www.liebertpub.com).

See the original post here:
Novel pig model may be useful for human cancer studies

Public release date: 24-Jul-2012 [ | E-mail | Share ]

Contact: Jia Liu liujia@genomics.cn BGI Shenzhen

Research in the growing field of genomics which could lead to a new generation of personalised medical treatments will be boosted by an initiative that brings together scientific expertise from China and Edinburgh.

A memorandum of understanding signed between the University of Edinburgh and BGI, the world's largest genomics organisation, will aim to build on both institutions' strengths in genomics.

It will aim to enhance researchers' scientific understanding of the building blocks with which people and other living organisms are made.

The partnership will lead to an expansion of genomics research in Edinburgh, including analysing hereditary information encoded in our DNA, which could help assess risks for particular diseases.

It comes at a time of increasing interest in how better understanding of genes, through DNA sequencing facilities, will help to develop personalised medicines.

Genomics also plays an important role in looking at how livestock can be bred with resistance to diseases to help produce food sustainably for a growing global population.

The agreement between the University of Edinburgh and BGI will explore how research at three genomics facilities in Edinburgh GenePool Genomics Facility in the School of Biological Sciences, ARK Genomics at the Roslin Institute and the Genetics Core at the Wellcome Trust Clinical Research Facility and the Institute of Genetics and Molecular Medicine could be enhanced through collaboration with BGI.

As one of the world's largest genomics organisations, BGI has developed an integrative structure of research innovation, platform development and industrial application. BGI is actively building links with research leaders all over the world, with the aim of promoting the advancement of innovative biology research, molecular breeding, healthcare and related fields.

See the rest here:
Scots link-up with China to boost genetic research

OMAHA, Neb.--(BUSINESS WIRE)--

Transgenomic, Inc. (TBIO) today announced that National Government Services, the designated Medicare fiscal intermediary in Connecticut, has confirmed coverage for its proprietary Clopidogrel Genetic Absorption Activation Panel (C-GAAP, formerly PGxPREDICT:Clopidogrel). As a result of this coverage, the 48 million Americans currently covered by Medicare will have access to this genetic test. The C-GAAP is a clinically validated diagnostic test that identifies patients with genetic variations in CYP2C19, a gene whose effect is described in clopidogrels label, and ABCB1, a gene that is unique to Transgenomics panel and is covered by issued and pending patents owned by Transgenomic.

The effectiveness of clopidogrel, the most widely prescribed antiplatelet drug used to reduce the risks of heart attack, stroke and death, is dependent on a patients ability to absorb the drug through their intestine and then activate the drug by enzymes produced in the liver. Two genes, ABCB1 and CYP2C19, encode proteins critical for this absorption and activation. Patients with dysfunctional CYP2C19 and ABCB1 genes treated with clopidogrel exhibit a 50% increase in major adverse cardiovascular event rates than do patients with normal CYP2C19 and ABCB1 genetic function. The seriousness of this problem prompted the FDA to add a black box warning to clopidogrels label in 2010 to alert physicians and patients about this cardiac risk and the usefulness of genetic testing in guiding treatment strategies. Subsequently, professional medical societies, including the American College of Cardiology and the American Heart Association, have issued practice guidelines recommending the consideration of genetic testing for patients at high-risk for poor clinical outcomes.

Transgenomics C-GAAP is a simple saliva test that identifies patients who cannot completely absorb or activate clopidogrel due to reduced function of CYP2C19 or ABCB1. C-GAAP analyzes markers in both genes to identify patients who are at a genetically increased risk of major adverse cardiovascular events due to diminished effectiveness of clopidogrel. Approximately 50% of patients taking clopidogrel have markers in CYP2C19 or ABCB1 indicative of reduced absorption or reduced activation of clopidogrel.

Confirmation of Medicare coverage is a major commercial milestone for Transgenomic and an important step toward widespread use of C-GAAP, said Craig Tuttle, Chief Executive Officer of Transgenomic. Medicare is the largest U.S. payor and currently covers approximately 75% of the patients for whom the C-GAAP test would be ordered. Acceptance by Medicare removes a significant barrier for physicians and allows for a more rapid adoption of this important genetic test. There are approximately 6 million new patients that are prescribed clopidogrel each year. Half of those patients have genetic variations in CYP2C19 or ABCB1 which will limit the effectiveness of clopidogrel therapy. C-GAAP provides their physicians the additional clinical information that can help them choose the most effective treatment alternative to reduce their patients risk of a major adverse cardiac event. It will also help patients feel comfortable with their physicians therapy selection.

About Transgenomic, Inc.

Transgenomic, Inc. (www.transgenomic.com) is a global biotechnology company advancing personalized medicine in cancer and inherited diseases through its proprietary molecular technologies and world-class clinical and research services. The Company has three complementary business divisions: Transgenomic Pharmacogenomic Services is a contract research laboratory that specializes in supporting all phases of pre-clinical and clinical trials for oncology drugs in development; Transgenomic Clinical Laboratories which specializes in molecular diagnostics for cardiology, neurology, mitochondrial disorders, and oncology; and Transgenomic Diagnostic Tools which produces equipment, reagents, and other consumables that empower clinical and research applications in molecular testing and cytogenetics. Transgenomic believes there is significant opportunity for continued growth across all three businesses by leveraging their synergistic capabilities, technologies, and expertise. The Company actively develops and acquires new technology and other intellectual property that strengthens its leadership in personalized medicine.

Forward-Looking Statements

Certain statements in this press release constitute forward-looking statements of Transgenomic within the meaning of the Private Securities Litigation Reform Act of 1995, which involve known and unknown risks, uncertainties and other factors that may cause actual results to be materially different from any future results, performance or achievements expressed or implied by such statements. Forward-looking statements include, but are not limited to, those with respect to management's current views and estimates of future economic circumstances, industry conditions, company performance and financial results, including the ability of the Company to grow its involvement in the diagnostic products and services markets. The known risks, uncertainties and other factors affecting these forward-looking statements are described from time to time in Transgenomic's filings with the Securities and Exchange Commission. Any change in such factors, risks and uncertainties may cause the actual results, events and performance to differ materially from those referred to in such statements. Accordingly, the Company claims the protection of the safe harbor for forward-looking statements contained in the Private Securities Litigation Reform Act of 1995 with respect to all statements contained in this press release. All information in this press release is as of the date of the release and Transgenomic does not undertake any duty to update this information, including any forward-looking statements, unless required by law.

Continue reading here:
Transgenomic Announces Medicare Coverage for Clopidogrel (Plavix®) Response Test

July 24, 2012

- Dr Craig Venter Genetic entrepreneur

His team - and any other contenders - will be given 30 days to work out the full DNA code of 100 centenarians at a cost of no more than $1,000 per genome.

The race will start in September 2013.

Under the rules of the Archon Genomics X Prize, teams have until next May to register for the competition.

Dr Rothberg's team from Life Technologies Corporation in California is the first to formally enter the race.

Being able to sequence the full human genome at a cost of $1,000 or less is regarded as a milestone in science.

It is seen as the threshold at which DNA sequencing technology becomes cheap enough to be used widely in medicine, helping in diagnosis and in matching drugs to a patient's genetic make-up.

One hundred people aged 100 have donated their DNA for the project.

Original post:
Genetic entrepreneur to compete in Genomics X Prize

LAMB producers can increase profit by greater use of genetics without downgrading eating quality.

That's the view of Kangaroo Island lamb producer and Nuffield scholar, Andrew Heinrich.

"I was concerned that we were going too lean, but now I am very confident we are going down the right track," Mr Heinrich said.

The Parndana producer will present the findings of his Nuffield scholarship study into the future of lamb production at the annual conference of the Grassland Society of Southern Australia in Launceston this Friday, July 27.

He said the study, into how more efficient genetics could achieve improved carcass quality in sheep, was prompted by his worry about pushing too hard in genetics.

But an international review has convinced him the prime lamb industry can become more profitable through measurement without changing eating quality.

Mr Heinrich runs a wool, prime lamb and cattle operation along with a White Suffolk stud on 820ha near the centre of Kangaroo Island.

The property supports about 6000 grown sheep, including a self-replacing Merino flock of 1400 ewes along with 1200 wethers.

Mr Heinrich said his main aim was to lower micron while increasing wool cut; breeding sheep to be worm resistant and measuring carcass traits to increasing carcass yields.

The farm uses rotational grazing of perennial grasses and sub clover and matches livestock feed demand to pasture production.

Go here to read the rest:
Focus on lamb genetics

What a milestone. After three decades of development, European regulators have recommended approval for the first commercial gene therapy in Europe and the US.

The therapy is for a rare genetic condition called lipoprotein lipase deficiency (LPLD). People with the disorder can't break down globules of fat in the bloodstream called chylomicrons. As a result, these clog up blood vessels in the gut and pancreas, often resulting in agonising visits to intensive care. The only existing treatment is for those with LPLD to avoid fat in food altogether.

In healthy people, muscle cells make an enzyme called lipoprotein lipase, which breaks down chylomicrons. People with LPLD lack the enzyme because of defects in the gene that makes it. The new treatment, called Glybera, works by replacing this gene with a healthy copy. Doctors inject into patients' upper leg muscles a harmless virus that permanently implants a working gene into muscle cells, theoretically enabling patients to make the enzyme indefinitely.

"Patients with LPLD are afraid of eating a normal meal because it can lead to acute and extremely painful inflammation of the pancreas," says Jrn Aldag, the chief executive officer of uniQure BV, the company that has developed the therapy in Naarden, the Netherlands. "Now, for the first time, a treatment exists for these patients that not only reduces this risk, but also has a multi-year beneficial effect after just one treatment," he says.

Aldag says that although the treated people can't risk eating lots of fatty food, they are likely to make around 5 to 10 per cent of the enzyme that a healthy person would make, which is enough to clear the fat they take in from a healthy diet. The treatment is still effective in people who trialled the injections six years ago.

Aldag also said the news was good for gene therapy generally. "This is phenomenal, because the promise of gene therapy is clear," he says. "It allows you to restore the natural function of the body and bring a long-term effect to patients, many of them with very severe diseases."

Although several experimental trials of gene therapy are under way, some of them for more than a decade, uniQure is the first in the West to win regulatory approval for a commercial treatment.

The only other gene therapy available commercially is Gendicine, which was approved in China in 2004 to treat cancer.

On 20 July, experts at the European Medicines Agency recommended that Glybera be approved. The European Commission will have the final say within three months however, it usually follows the EMA's advice.

Although the disease affects only one or two people in every million, the treatment is valuable because no other options exist. When the company tested the treatment in 27 patients, it reduced fat concentrations in blood within one to three months, and reduced the frequency of pancreatic pain attacks by 50 to 60 per cent.

See the original post here:
Europe's first gene therapy approval anticipated

24 July 2012 Last updated at 02:28 ET By Helen Briggs BBC News

A race to unlock genetic clues behind living to 100 is set to begin next year, after a US team announced it will compete for the $10m Genomics X Prize.

Genetic entrepreneur Dr Jonathan Rothberg is entering the challenge to identify genes linked to a long, healthy life.

His team - and any other contenders - will be given 30 days to work out the full DNA code of 100 centenarians at a cost of no more than $1,000 per genome.

The race will start in September 2013.

Under the rules of the Archon Genomics X Prize, teams have until next May to register for the competition.

Dr Rothberg's team from Life Technologies Corporation in California is the first to formally enter the race.

Being able to sequence the full human genome at a cost of $1,000 or less is regarded as a milestone in science.

It is seen as the threshold at which DNA sequencing technology becomes cheap enough to be used widely in medicine, helping in diagnosis and in matching drugs to a patient's genetic make-up.

If they can do a human genome in two hours with one little machine, it's just stunning. We have come a long way.

See original here:
DNA race to unlock ageing secrets

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/bvnrbc/rna_mirna_rnai_a) has announced the addition of the "RNA (Mirna, Rnai & Sirna) Therapy in Oncology Drug Pipeline Update 2012" report to their offering.

Potentially any disease-causing gene, cell type or tissue can be targeted with miRNA, RNAi or siRNA, including those not 'druggable' with small molecules or protein-based therapies.

There are today 49 companies plus partners developing 69 RNA (miRNA, RNAi & siRNA) drugs in 91 developmental projects in cancer. In addition, the accumulated number of ceased drugs over the last years amount to another 24 drugs. Rna (Mirna, Rnai & Sirna) Therapy In Oncology Drug Pipeline Update lists all drugs and gives you a progress analysis on each one of them. Identified drugs are linked to 49 different targets. These targets are further categorized on in the software application by 23 classifications of molecular function and with pathway referrals to BioCarta, KEGG and NetPath.

How May Drug Pipeline Update Be of Use?

- Show investors/board/management that you are right on top of drug development progress in your therapeutic area.

- Find competitors, collaborations partners, M&A candidates etc.

- Jump start competitive drug intelligence operations

- Excellent starting point for world wide benchmarking

- Compare portfolio and therapy focus with your peers

Read more here:
Research and Markets: RNA (Mirna, Rnai & Sirna) Therapy in Oncology Drug Pipeline Update 2012

ScienceDaily (July 23, 2012) New research conducted by neuroscientists from the Royal College of Surgeons in Ireland (RCSI) published in Nature Medicine has identified a new gene involved in epilepsy and could potentially provide a new treatment option for patients with epilepsy.

The research focussed on a new class of gene called a 'microRNA' which controls protein production inside cells. The research looked in detail at one particular microRNA called 'microRNA-134' and found that levels of microRNA-134 are much higher in the part of the brain that causes seizures in patients with epilepsy.

By using a new type of drug-like molecule called an antagomir which locks onto the 'microRNA-134' and removes it from the brain cell, the researchers found they could prevent epileptic seizures from occurring.

Professor David Henshall, Department of Physiology & Medical Physics, RCSI and senior author on the paper said 'We have been looking to find what goes wrong inside brain cells to trigger epilepsy. Our research has discovered a completely new gene linked to epilepsy and it shows how we can target this gene using drug-like molecules to reduce the brain's susceptibility to seizures and the frequency in which they occur."

Dr Eva Jimenez-Mateos, Department of Physiology & Medical Physics, RCSI and first author on the paper said "Our research found that the antagomir drug protects the brain cells from toxic effects of prolonged seizures and the effects of the treatment can last up to one month."

Epilepsy affects 37,000 in Ireland alone. For every two out of three people with epilepsy their seizures are controlled by medication, but one in three patients continues to have seizures despite being prescribed medication. This study could potentially offer new treatment methods for patients.

The research was supported by a grant from Science Foundation Ireland (SFI). Researchers in the Department of Physiology & Medical Physics and Molecular & Cellular Therapeutics, RCSI, clinicians at Beaumont Hospital and experts in brain structure from the Cajal Institute in Madrid were involved in the study.

Share this story on Facebook, Twitter, and Google:

Other social bookmarking and sharing tools:

Story Source:

More here:
New epilepsy gene identified; possible new treatment option

July 23, 2012

redOrbit Staff & Wire Reports Your Universe Online

Researchers from several prominent medical institutions claim that they have identified several genetic mutations responsible for medulloblastoma, the most common malignant type of childhood brain tumor.

There are four recognized subtypes of medulloblastomas, which occur in the part of the brain responsible for controlling balance and other complex motor functions (the cerebellum), Boston Childrens Hospital researchers explained in a recent statement.

These tumors are treated through a combination of surgery, chemotherapy, and radiation, and while survival rate for this form of cancer is approximately 70%, hospital officials note that those who overcome the disease are usually not able to live independently due to side-effects related both to the tumor and the treatment methods.

Doctors have historically classified medulloblastoma patients as either standard or high risk based on biopsy results, but have long suspected that what we call medulloblastoma could actually be several different diseases, they said. Over the last two years, studies by researchers have bolstered this view by dividing medulloblastoma into four molecular subtypes based on gene expression profiles and copy number variations. Each subtype has a distinct survival rate, ranging from 20 to 90 percent.

Now, Dr. Scott Pomeroy, Neurologist-in-Chief at Boston Childrens Hospital and a neuro-oncologist at the Dana-Farber/Childrens Hospital Cancer Center (DF/CHCC), and colleagues used advanced sequencing techniques to study the medulloblastoma tumors of 92 patients. They then compared that information with DNA obtained from matched blood samples from those same subjects and discovered 12 single-letter errors in the genetic code (also known as point mutations) that occurred frequently in all types of the cancer.

Functionally, the mutated genes fell into two broad categories: genes like Shh and Wnt that play direct roles in molecular pathways controlling cell growth, and genes like DDX3X and GPS2 that play more of a coaching role, modulating the activity of other genes, the researchers said. Taken as a whole, the studys results confirm the view of medulloblastoma as a family of tumors driven by disruptions in just a few common mechanisms. However, the form those disruptions take the actual mutations or genomic changes can vary from tumor to tumor.

We tend to treat all medulloblastomas as one disease without taking into account how heterogeneous the tumors are at the molecular level, Yoon-Jae Cho, an assistant professor of neurology and neurological sciences at the Stanford University School of Medicine and senior author of a report published by the journal Nature, said in a statement. This paper represents a finer-grained view of the genetic landscape of these tumors and provides us with some leads on how to develop new therapies.

While no single tumor in the study carried all 12 mutations, the researchers said that they were able to categorize the tumors according to which mutations they possessed, discovering that certain tumors can be resistant to standard treatments because of their genetic signatures. Cho said that treatment of the disease could be enhanced, and post-treatment side effects reduced, if doctors characterized the genetic signatures of medulloblastoma patients first.

Continued here:
Genetic Mutations Responsible For Childhood Brain Tumors

News | Health

China was the first country to approve a gene therapy product for commercial use, in 2004. The U.S. has yet to endorse any such treatments and the field has been plagued by carcinogenicity

By Daniel Cressey and Nature magazine | July 23, 2012

Image: Flickr/hermida

From Nature magazine

Europes drugs regulator has for the first time recommended a gene therapy medicine for approval.

Glybera, a treatment for patients who cannot produce enough of an enzyme crucial for breaking down fat, was backed by the European Medicines Agency's (EMA) Committee for Medicinal Products for Human Use (CHMP). This recommendation has to be endorsed by the European Commission before it becomes available, but it would be unusual for the Commission to reject the recommendation.

Gene therapy involves transferring genes into patients to treat their diseases. In this case Glybera uses a virus injected into a patient to deliver a working copy of a gene for producing lipoprotein lipase (LPL). LPL deficiency affect no more than one or two people in a million.

Back in 2004 China became the first country to approve a gene therapy product for commercial use, with a treatment for cancer. But Europe and the United States have yet to endorse any gene therapy treatments and the field has been plagued by issues such as carcinogenicity.

Jrn Aldag, chief executive of uniQure, the Amsterdam-based company that owns Glybera, says todays announcement from the EMA is an overdue signal to the gene therapy community that things are changing. It unlocks the potential, he told Nature. You will see more investment coming.

Read more here:
Europe Nears First Approval for Gene Therapy Treatment

The European Medicines Agency has recommended the use of gene therapy for a rare genetic disease which leaves people unable to properly digest fats, BBC News reported. Before doctors can start treating the disease with gene therapy they must wait for it to be approved byThe European Commission.

According to the BBC, lipoprotein lipase deficiency affects one in a million people. People suffering from lipoprotein lipase deficiencyhave damaged copies of a gene which is essential for breaking down fat. It leads to fat building up in the blood, abdominal pain and life-threatening pancreatitis (inflammation of the pancreas). So much fat can accumulate that the blood looks white rather than red.

Dr. Daniel Gaudet, a professor of medicine at the University of Montreal, told The New York Times,Its the equivalent of having a 10 percent cream in your bloodstream."

With gene therapy, patients are provided with correct copies of defective genes that cause genetic disorders, according to the New York Times.

UniQure, a Dutch company, developed a new gene therapy called Glybera. According to the LA Times, the treatment is injected into the patient's legs in a series of shots at one sitting. Gaudet tested the gene therapy on 27 people in clinical trials. The trails showed that the injections are long-lasting and provide at least partial control of lipoprotein lipase deficiency with no apparent adverse effects.

The European Commission has rejected Glybera three times before due to insufficient evidence of its effectiveness.

More from GlobalPost:Scientists may have found the key to a longer life

http://www.globalpost.com/dispatch/news/health/120723/gene-therapy-lipoprotein-lipase-deficiency-close-approval-europe

Read this article:
Gene therapy for lipoprotein lipase deficiency close to approval in Europe

DEL MAR, Calif., July 23, 2012 /PRNewswire/ -- iDiverse announced that it has discovered a yeast gene that when inserted into yeast and properly modulated can increase ethanol production yield by up to 34%.

"The gene functions by protecting the yeast against some of the lethal stresses encountered in the bioproduction process," said John Serbin, Chief Business Officer at iDiverse. "In its current embodiment, it allows yeast to produce significantly more ethanol under the severe conditions of high concentrations of acetic acid and low pH. These critical conditions occur when fuel ethanol is produced from corn or sugarcane and are yet more severe in the newest generation of fermentation processes using lignocellulosic biomass as feedstock. Our constructs have been tested in several commercial yeasts. We believe that they can improve the performance of any yeast facing lethal bioproduction environments."

"The economic impact of this can be huge," said John Burr, president and CEO of iDiverse. "If our technology is effective at large-scale, it could increase the efficiency of installed fuel ethanol plants, enhance yields from corn and sugarcane feed stocks, and help manufacturers bridge the fuel ethanol production gap until the next generation biomass plants come on-line. In addition, we think we can help increase the manufacturing output of cellulosic biomass technologies under development.

"Also, our technology is ready to be used in applications beyond fuel ethanol. Those include the bioproduction of industrial enzymes, research reagents, and pharmaceuticals. Our technology will provide benefits to biomanufacturing cell types beyond yeast, such as CHO, insect, fungal, and algal cells."

About iDiverse iDiverse, Inc. is a privately-held biotechnology company dedicated to developing genetically enhanced cell lines for use in the bioproduction of fuel ethanol, industrial enzymes, and pharmaceuticals. It also provides genetic technology for creating plants that are resistant to a wide range of biological and environmental stresses.

See more here:
iDiverse Discovers Yeast Gene that Increases Fuel Ethanol Production Yield

A little over two years ago I put up some posts on Jewish genetics due to the publication of some really exciting research. Looking at the referrals I noticed two trends which together were relatively bizarre. People would look at the same PCA plot and conclude that:

First, some context. Most of these referrals were from websites with white nationalist or quasi-white nationalist sympathies. The non-Jews of this set tended toward the position that Jews were non-white, while the Jews felt that the genetic results vindicated the whiteness of Jews. In some cases the links were from Jews who were not necessarily white nationalists, but were also keen on making it clear that European Jews were not schwartza.

To me the whole issue was bizarre, and it entailed that I monitor the comments of those posts pretty strictly. But I believe that a much milder version of the question crops up whenever people ask if European Jews are more European or Middle Eastern. The main conundrum in the whole framing of the question is that both European and Middle Eastern are highly heterogeneous constructions, and there isnt a very good demarcation of which populations are which on the liminal margin. In contrast, the difference between East Asians or Sub-Saharan Africans and West Eurasians is more clear and distinct. In-between populations such as Uyghurs and Ethiopians seem to be relatively recent admixtures, suggesting that these three geographical races have had very low gene flow for long periods of time. Not so between Europeans and Middle Easterners.

Because of this issue it is very easy to prove that Jews are or are not white through a facile selection biasing of the results. When you have groups which overlap, or are ill-defined, does it surprise that the science itself produces results which are somewhat ill-defined and easily subject to disputation?

Here are two results from The genome-wide structure of the Jewish people. First, lets look a PCA, where the first (vertical) component explains the largest proportion of the variance, and the second component (horizontal) the second largest component of the variance:

Now lets look at a table which shows allele sharing distance between two pairs of populations. Ive taken the results from the supplements, and limited the population set. Additionally, Ive taken the value, and standardized it so that the smallest distance (Iraqi Jew to Iraqi Jew) is set to 0, and larger values indicate greater difference in allele values across two populations.*

Are there clear conclusions you can derive from this? If you have an ideological ax to grind you almost certainly can. Overall a major issue here is that were often looking at summaries, when some of these populations have undergone recent admixture. The Turks, Yemenis, Russians, and Palestinians, all have non-West Eurasian admixture (East Eurasian in the case of Turks and Russians, African in the case of Yemenis and Palestinians). This is going to elevate their distance from Ashkenazi Jews. I suspect that the Russian value would be the same as the Lithuanian if you only compared West Eurasian ancestry to West Eurasian ancestry. But this is recent admixture. I suspect ancient admixture matters too. In relation to Sardinians and North Italians the Tuscan populations seems particularly enriched in a West Asian element. Though I do not discount the ASD value being so low between Ashkehani Jews and Tuscans being a function of ancient Italian admixture with Western Jews, I think it may be that this West Asian admixture brings this group closer to Jews, and so may predate real admixture between Jews and non-Jews (because Jews did not exist when this West Asian element became prominent in Italy!).

I could say a lot more. This is complicated and not cut & dried. But I think the different statistics are not showing us whether Jews are white or not, because thats not fundamentally a question which relies purely on genetics. Being white is not totally uncoupled from genetics. Someone of Chinese of African appearance could never be white. Genetics is a necessary condition, but it is not a sufficient condition of whiteness. So, for example, Middle Eastern non-Muslim populations regularly assimilate to whiteness, while Muslims do not. To my knowledge no one thought of Jacques Derrida as a non-white intellectual, despite his Algerian Sephardic Jewish background. But if Jacques Derrida had converted to Islam, and passed himself off as an Algerian Arab or Berber, he would have become non-white.

Link:
Are Jews white? | Gene Expression

ScienceDaily (July 22, 2012) Researchers at the Stanford University School of Medicine and Lucile Packard Children's Hospital have identified several gene mutations responsible for the most common childhood brain tumor, called medulloblastoma, adding evidence to the theory that the diagnosis is a group of genetically distinct cancers with different prognoses. These and accompanying findings are likely to lead to less-toxic, better-targeted treatment approaches over the next two years, the researchers said.

"We tend to treat all medulloblastomas as one disease without taking into account how heterogeneous the tumors are at the molecular level," said Yoon-Jae Cho, MD, an assistant professor of neurology and neurological sciences at Stanford, a pediatric neurologist at Packard Children's and the senior author of the new research. "This paper represents a finer-grained view of the genetic landscape of these tumors and provides us with some leads on how to develop new therapies."

The research, which appeared online in Nature July 22, is part of a large, ongoing effort to characterize genetic errors in medulloblastoma. Two companion studies on which Cho is a co-author will be published simultaneously with his paper. The three papers came from a consortium that involves scientists at Stanford, Packard Children's, the Broad Institute, Children's Hospital Boston, the Dana-Farber Cancer Institute, the German Cancer Research Center, Brandeis University and the Hospital for Sick Children in Toronto.

Current treatment for medulloblastoma, which originates in the cerebellum and affects about 250 U.S. children each year, begins with surgery to remove as much of the tumor as possible. Patients then receive a combination of radiation and chemotherapy, but the treatments are not tailored to the tumor's genetic characteristics.

Cho's team extracted DNA from 92 medulloblastoma tumors and compared it with DNA from matched blood samples from the same patients, uncovering 12 significant "point mutations" -- single-letter errors in the genetic code -- that occurred frequently in the brain cancer. A handful of the mutations had been previously identified in smaller studies of medulloblastoma, but several mutations were novel in both medulloblastoma and in cancer.

Among the newly identified mutations was one in an RNA helicase gene, DDX3X, which Cho said is the second-most common mutation in medulloblastoma tumors. "Mutations in this gene have now also been identified in other tumor types, such as chronic lymphocytic leukemia, and head and neck tumors," he said.

However, the researchers found that it was rare for the same gene mutated in several different patients' tumors. More commonly, mutations involving a set of genes regulating a single biological pathway were found in the tumors -- a pattern that is emerging across cancer genome sequencing efforts.

Though no single tumor in the study carried all 12 mutations, the researchers were able to categorize the tumors according to which mutations they possessed. "We now understand that there are certain tumors with particular genetic signatures that are really resistant to standard treatments," Cho said. Children with medulloblastoma do not routinely have their tumors' genetic signatures characterized, but Cho believes that such characterization coupled with targeted therapies could greatly enhance tumor treatment.

About two-thirds of medulloblastoma patients now survive five years past diagnosis, but many survivors suffer lasting physical or intellectual side effects from their cancer treatments. Drugs tailored to a tumor's genetic profile have the potential to save more patients while reducing side effects, Cho said.

Several of the mutations discovered affect cellular signals that switch large groups of genes on and off. "The dysregulation of these 'epigenetic programs' is becoming a common theme not only in medulloblastoma but across cancer," Cho said. Such pathways may be good targets for cancer drugs; indeed, drugs targeting one such pathway (histone methyltransferases) are currently in pre-clinical development, while agents against another pathway (Hedgehog signaling pathway) are entering phase-2 clinical trials for medulloblastoma.

View original post here:
Genetic mutations that cause common childhood brain tumors identified

Disna Mudalige

Cutting edge medical technology known as gene therapy has been developed by Indian doctor Sunita Rana Agarwal along with her husband Punkaj Sondhi with positive results, to control all kinds of, eye related illnesses, arthritis, diabetes, cancer, trauma, congenital errors and HIV AIDS.

Gene therapy works as an anti- aging, regenerative and rejuvenating treatment which leads to a healthier life.

Dr Agrawal on a brief visit to Sri Lanka told the Daily News the technology was developed following extensive research for around 20 years and it had been tested on about 12,000 patients during the past eight years.

A drop of blood is taken from the patient through a needle and customised with the DNA activator, which is the proprietary formula, that in turn makes a young and healthy DNA which is customised to that particular patient.

It is a course of 10 injections through 10 days which is much affordable compared to conventional therapies, Dr Agarwal said explaining how the gene therapy is applied.

She said this is a simple technology for which the patient does not have to be hospitalised and that it does not have any side effects. Dr Agarwal said gene therapy is a molecular based therapy.

She said they are at present dealing with pharmaceutical companies to take this product, which would basically work as a panacea, to the next level.

Dr Agarwal provided her voluntary service in the North and East during the late 1980s as an eye surgeon. She said the people in that region at that time had not seen an eye doctor for decades since nobody was willing to work under those risky conditions.

Dr Agarwal also commended the tremendous change in Sri Lanka at present compared to her previous visit, adding there is a remarkable improvement in every sphere.

Excerpt from:
Gene therapy for range of illnesses

By Mark Long

The first gene-therapy drug in the Western world likely moved a step closer to the market Friday, as European regulators recommended approval of a medicine to treat a rare disease that causes fat to build up in the blood.

Dow Jones Newswires reports that a European Medicines Agency committee backed approval of Glybera, which was developed by Dutch biotech firm uniQure to treat patients with lipoprotein lipase deficiency, or LPLD.

The European Commission usually backs such recommendations from the drug regulator, which had rejected Glybera three times before.

In gene therapy, scientists try to correct a problem caused by a defective or non-functioning gene by replacing it with a functioning gene. Research efforts had faded for years amid concerns it was too risky and complex to be safe and effective. But findings from several studies rekindled interest in the approach, as WSJ reported in 2010.

No gene therapy drugs are on the market in the West, though one to treat cancer was approved in China in 2003, the Associated Press notes in its story on the thumbs up for Glybera. The AP says the agency recommended approval only with tough restrictions and uniQure will have to set up a registry to track patients.

Patients with LPLD cant handle fat particles in their blood plasma. This leads to recurring, severe abdominal pain and pancreatitis. The disease affects one or two out of every million people.

Here is the original post:
West’s First Gene Therapy Gets European Backing

An ongoing legal battle over gene patents has led many scientists to ask whether such claims help or hinder research. That question will be debated once more on 20 July when Myriad Genetics, a diagnostic company in Salt Lake City, Utah, returns to the US courts to argue that its patents on theBRCA1 and BRCA2 gene variants linked to inherited breast and ovarian cancer are valid. Currently, the patents give Myriad exclusive rights to conduct diagnostic tests on the genes. The judges are expected to issue an opinion by late summer. The case is important because thousands of genes have been patented in the United States, and no one is sure what will happen if the judges rule Myriad's patents invalid. Natureexamines what the Myriad case means to biotechnology and genetic medicine.

An argument over whether isolated DNA is patentable is at the centre of a US court case on existing gene patents.

Alfred Pasieka/Getty Images

In the United States, 'laws of nature' are not able to be patented, along with abstract ideas. The argument against Myriad's patents centres on whether isolated DNA is the same as native DNA, which is defined as a law of nature. If the court decides that the patents are invalid, that ruling would reverse more than 20 years of precedent, during which companies and academic researchers have patented thousands of genes. Some of these genes form the basis of diagnostic tests that determine when someone might respond well to a given therapy, or whether theyre at risk of a disease or a drug side effect, for example.

Although the courtsupheld Myriads patents in July 2011, the Supreme Court ordered the Appellate Court to reconsider the case in light of a ruling in March 2012 against the diagnostics company Prometheus Laboratories in San Diego, California (see 'US Supreme Court upends diagnostics patents'). Prometheus held patents on a method of determining drug dosage for a patient on the basis of the amount of certain components in their blood. According to the judge, this test merely reiterated a law of nature the relationship between the concentration of blood components and the likelihood that a drug dosage will be harmful or ineffective. Legal briefs recently filed by the US Department of Justice urge the judges to consider whether Myriad's patents 'tie up' the future use of laws of nature, as decided in the case against Prometheus.

Yes, according to the American Civil Liberties Union (ACLU) in New York, a legal group that represents the plaintiffs in the case, who include researchers, scientific societies and women with cancer. By claiming a law of nature, they can stop every other lab from performing tests, even with different testing methods, says ACLU attorney Sandra Park. Although there are some 8,000 publications on BRCA genes, which testify to the fact that research on the genes is ongoing, Myriad prevented at least five researchers who are some of the plaintiffs in this case from testing women in-house as part of their academic studies. Its within [Myriads] power to give licences to scientists, Park says, but the way theyve exercised their rights shows that they are intent on maintaining a monopoly. Legal briefs filed by DNA co-discoverer James Watson urge the judges to consider whether the patent leaves the public free to study the genes encoding BRCA1 and BRCA2.

Venture capitalists would be reluctant to invest in a small biotechnology firm if there was no secure patent protection, says Hans Sauer, an intellectual-property lawyer at the Biotechnology Industry Organization in Washington DC, a trade association for biotech companies that has filed a brief in favour of Myriad. Its already quite hard to get good patent protection in the area of personalized medicine, and theMyriadcase adds another layer of complexity, he notes. Companies will still be able to patent genes if Myriad loses its case, but the patents might need to be more narrowly defined and so might not protect companies as effectively, he predicts. For example, a patent might protect a kit that detects specific mutations within a gene associated with causing colon cancer, the result of which helps physicians to tailor their patients treatment. The issue with narrower patents, however, is that other companies can design tests that detect different mutations, or they could develop kits that detect the same mutations using different reagents.

Scientists tend to ignore patent claims on genes or genetic diagnostic methods because the patent-holding companies generally reserve litigation for individuals who seek to profit from their product, Sauer says. Researchers have occaisonally been issued cease and desist letters to stop them working on patented genes but these cases rarely, if ever, result in lawsuits. One way to increase researchers security might be to explicitly allow experimental use exceptions, as occurs in European patent law. It works well in other countries, says Sauer, so I dont see why it wouldnt work here.

Read the original post:
The great gene-patent debate

ScienceDaily (July 20, 2012) A research study led by Boston University School of Medicine (BUSM) and the University of Exeter in the United Kingdom, in collaboration with a global consortium, has identified genetic markers that influence a protein involved in regulating estrogen and testosterone levels in the bloodstream. The results, published online in PLoS Genetics, also reveal that some of the genetic markers for this protein are near genes related to liver function, metabolism and type 2 diabetes, demonstrating an important genetic connection between the metabolic and reproductive systems in men and women.

Andrea D. Coviello, MD, assistant professor of medicine at BUSM and an endocrinologist at Boston Medical Center, is one of the paper's lead authors. This study was done in collaboration with the Framingham Heart Study and investigators from 15 international epidemiologic studies participating in the Cohorts for Heart and Aging Research in Genetic Epidemiology (CHARGE) consortium.

Sex hormone-binding globulin (SHBG) is the key protein that carries testosterone and estrogen in the bloodstream in both men and women. As the main carrier of these sex hormones, SHBG helps to regulate their effects in different tissues and organs in the body. In addition to effects on reproduction in men and women through regulation of sex hormones, SHBG has been linked to many chronic diseases including type 2 diabetes and hormone-sensitive cancers such as breast and prostate.

Previous family studies have demonstrated that approximately 50 percent of the variation in SHBG concentrations in the bloodstream is inherited from parents, suggesting that SHBG levels are under significant genetic control. However, little has been known about the specific genes that influence SHBG levels.

Investigators examined human genomes from 21,791 men and women to determine which genes influence SHBG levels and validated the results from this genome-wide association study (GWAS) in an additional 7,046 men and women. They identified 12 single-nucleotide polymorphisms (SNPs), or DNA sequence variations, associated with the concentration of SHBG circulating in the bloodstream. However, these SNPs combined explain only 16 percent of the variation of SHBG in men and eight percent in women, respectively, indicating that SHBG levels are affected by many other factors as well.

The results also showed that the SNPs that influence SHBG levels are near genes related to liver function, fat and carbohydrate metabolism and type 2 diabetes. In addition, there were genes that had stronger effects in one sex compared to the other.

"These findings underscore the connection between the reproductive system and metabolism in both men and women, and may help explain sex differences observed in some metabolic diseases, particularly type 2 diabetes," said Coviello.

Share this story on Facebook, Twitter, and Google:

Other social bookmarking and sharing tools:

Story Source:

See more here:
Genetic markers for testosterone, estrogen level regulation identified