24-05-2012 17:00 Obesity has continued to be a growing epidemic in America. The centers for Disease Control and Prevention estimates by the year 2030 obesity could affect over 42% of Americans. Many Americans have tried to lose the pounds by eating healthy and exercising but still cannot find a solution. Could the secret to weight gain or therefore lack of weight loss be answer in our genetics? WSPA 7 on Your Side Weekend Morning News Anchor and Weekday Reporter Laura Thomas tests the theory of The Weight Loss Gene. One simple test could change the overall health outlook for millions of Americans struggling with obesity!

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WSPA 7 On Your Side Medical Investigation: The Weight Loss Gene - Video

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

Vertex Pharmaceuticals Incorporated (VRTX) announced today that the European Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion by consensus recommending the approval of KALYDECO (ivacaftor) for people with cystic fibrosis (CF) ages 6 and older who have at least one copy of the G551D mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. KALYDECO is the first medicine to treat the underlying cause of CF, a rare, genetic disease caused by defective or missing CFTR proteins resulting from mutations in the CFTR gene. In people with the G551D mutation, KALYDECO helps the defective CFTR protein function more normally. An estimated 1,100 people in Europe have this mutation.

The CHMP opinion was based on positive findings from two global Phase 3 studies in which KALYDECO demonstrated unprecedented improvements in breathing and other measures of disease for people ages 6 and older with this specific genetic mutation. People treated with KALYDECO experienced significant and sustained improvements in lung function, weight gain and certain quality of life measurements compared to those on placebo. In addition, people who took KALYDECO were 55 percent less likely to have pulmonary exacerbations, or periods of worsening in the signs and symptoms of the disease that often require treatment with antibiotics and hospital visits, than those who received placebo. Fewer people in the KALYDECO treatment groups discontinued treatment due to adverse events than in the placebo groups. The majority of adverse events associated with KALYDECO were mild to moderate. Adverse events most commonly observed in those taking KALYDECO included headache, upper respiratory tract infection (common cold), stomach pain and diarrhea.

While there has been great progress in cystic fibrosis treatment during the last few decades, we are still only treating the symptoms and complications of the disease, said Stuart Elborn, M.D., KALYDECO investigator and President of the European Cystic Fibrosis Society. KALYDECO is a fundamentally different approach to the way we treat cystic fibrosis because it targets the underlying cause of the disease. In clinical trials, KALYDECO helped people with a specific genetic mutation breathe more easily, gain weight and generally feel better.

The CHMPs positive opinion will now be reviewed by the European Commission, which has the authority to approve medicines for the European Union. The European Commission generally follows the recommendation of the CHMP and typically issues marketing approval within three to four months.

Since 1998, Vertex has been committed to developing new medicines to treat the underlying cause of cystic fibrosis, said Peter Mueller, Ph.D., Chief Scientific Officer and Executive Vice President of Global Research and Development at Vertex. KALYDECO represents an important achievement in this ongoing effort. We look forward to working with the European Medicines Agency to bring KALYDECO, our first new medicine in Europe, to people with CF as quickly as possible.

KALYDECO was discovered as part of a collaboration with Cystic Fibrosis Foundation Therapeutics, Inc., the nonprofit drug discovery and development affiliate of the Cystic Fibrosis Foundation.

About Cystic Fibrosis

Cystic fibrosis is a rare, life-threatening genetic disease affecting approximately 35,000 people in Europe and 70,000 people worldwide. Today, the median predicted age of survival for a person with CF is approximately 38 years but the median age of death remains in the mid-20s. There are more than 1,800 known mutations in the CFTR gene. Some of these mutations, which can be determined by a genetic, or genotyping test, lead to CF by creating non-working or too few CFTR proteins at the cell surface. The absence of working CFTR proteins results in poor flow of salt and water into and out of the cell in a number of organs, including the lungs. This leads to the buildup of abnormally thick, sticky mucus that can cause chronic lung infections and progressive lung damage.

In some people, CFTR proteins are present at the cell surface but do not work properly. One type of this dysfunction is known as the G551D mutation.

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Vertex Receives European CHMP Positive Opinion for KALYDECO™ (ivacaftor), the First Medicine to Treat the Underlying ...

Public release date: 25-May-2012 [ | E-mail | Share ]

Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego

Five scientists from the University of California, San Diego and its School of Medicine have been awarded almost $12 million in new grants from the California Institute for Regenerative Medicine (CIRM) to conduct stem cell-based research into regenerating spinal cord injuries, repairing gene mutations that cause amyotrophic lateral sclerosis and finding new drugs to treat heart failure and Alzheimer's disease.

The awards mark the third round of funding in CIRM's Early Translational Awards program, which supports projects that are in the initial stages of identifying drugs or cell types that could become disease therapies. More than $69 million in awards were announced yesterday, including funding for first-ever collaboratively funded research projects with China and the federal government of Australia.

"With these new awards, the agency now has 52 projects in 33 diseases at varying stages of working toward clinical trials," said Jonathan Thomas, JD, PhD and CIRM governing board chair. "Californians should take pride in being at the center of this worldwide research leading toward new cures. These projects represent the best of California stem cell science and the best international experts who, together, will bring new therapies for patients."

The five new UC San Diego awards are:

With a $1.8 million award, Lawrence Goldstein, PhD, professor in the Department of Cellular and Molecular Medicine, Howard Hughes Medical Institute Investigator and director of the UC San Diego Stem Cell Program, and colleagues will continue their work developing new methods to find and test drug candidates for Alzheimer's disease (AD). Currently, there is no effective treatment for AD. The researchers screen novel candidates using purified human brain cells made from human reprogrammed stem cells. Already, they have discovered that these human brain cells exhibit a unique biochemical behavior that indicates early development of AD in a dish.

Mark H. Tuszynski, MD, PhD, professor of neurosciences and director of the Center for Neural Repair at UC San Diego, and colleagues seek to develop more potent stem cell-based treatments for spinal cord injuries. By combining grafts of neural stem cells with scaffolds placed at injury sites, the researchers have reported substantial progress in restoring functional improvement in impaired animal models. The new $4.6 million grant will fund work to identify the optimal human neural stem cells for preclinical development and, in an unprecedented step, test this treatment in appropriate preclinical models of spinal cord injury, providing the strongest validation for human translation.

Amyotrophic lateral sclerosis or ALS (Lou Gehrig's disease) is a progressive neurological condition that is currently incurable. Gene Yeo, PhD, assistant professor in the Department of Cellular and Molecular Medicine, and colleagues will use a $1.6 million grant to exploit recent discoveries that specific mutations in RNA-binding proteins cause neuronal dysfunction and death. They will use neurons generated from patient cells containing the mutations to identify the unique RNA "signature" of these doomed neurons and screen for drug-like compounds that bypass the mutations to correct the RNA signature to obtain healthy neurons.

Eric David Adler, MD, an associate clinical professor of medicine and cardiologist, studies heart failure, including the use of stem cells to treat it. His $1.7 million award will fund research into Danon disease, a type of inherited heart failure that frequently kills patients by their 20s. Adler and colleagues will turn stem cells created from skin cells of patients with Danon disease into heart cells, then screen hundreds of thousands of drug candidates for beneficial effects. The most promising drugs will subsequently be tested on mice with a genetic defect similar to Danon disease, with the ultimate goal of identifying a suitable candidate for human clinical trials. The research may have broader applications for other conditions with similar pathogenesis, such as cancer and Parkinson's disease.

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UC San Diego researchers receive new CIRM funding

By Fiona Macrae

PUBLISHED: 16:09 EST, 24 May 2012 | UPDATED: 11:15 EST, 25 May 2012

A breakthrough by British fertility experts could lead to a male pill and even a 'genetic vasectomy'.

Edinburgh University scientists have discovered a gene that is key to the production of sperm.

A drug that blocks the gene from working could be used as a contraceptive, liberating women from the burden of family planning.

Scientists from Edinburgh University say they have discovered a gene that is key to the production of sperm

The research could also lead to a 'genetic vasectomy' - a jab of genes that would leave a man permanently sterile.

Ultimately, within just five to ten years, it could even mean new treatments for infertile men, allowing them to achieve their dream of fatherhood.

The hopes come from an early-stage study in which scientists bred mice in which a gene called Katnal1 didn't work.

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Found: The breakthrough discovery of the gene that is key to the production of sperm and the male Pill

Dr Lee Smith, from the university, said if the gene was blocked the testes would continue to produce sperm, only releasing immature, ineffective sperm which had not developed into the final stages.

"The important thing is that the effects of such a drug would be reversible because Katnal1 only affects sperm cells in the later stages of development, so it would not hinder the early stages of sperm production and the overall ability to produce sperm.

He added it would be "relatively difficult" to do as the protein lives inside cells, but there was "potential" to find another substance that protein worked with as an easier target.

The research, funded by the Medical Research Council, was based on altering the genetic code of mice to discover mutations which led to infertility.

Dr Allan Pacey, senior lecturer in andrology at the University of Sheffield, told the BBC there was "certainly a need" for a non-hormonal contraceptive for men and that this had been a "Holy Grail" of research for many years.

"The gene described by the research group in Edinburgh sounds like an exciting new possible target for a new male contraceptive, but it may also shed light on why some men are sub-fertile and why their sperm does not work properly, he said.

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Male contraceptive pill hopes after gene discovery

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

Contact: Sarah Jackson press_releases@the-jci.org Journal of Clinical Investigation

Severe combined immunodeficiency is defect in the immune system that results in a loss of the adaptive immune cells known as B cells and T cells. Mutations in several different genes can lead to the development of severe combined immunodeficiency, including mutation of the adenosine deaminase (ADA) gene. Traditional treatment options, such as enzyme replacement therapy, are of limited efficacy, but bone marrow transplant from a compatible donor leads to a better response. A recent clinical trial indicated that gene therapy to insert the correct ADA gene in the patient's own bone marrow cells can also lead to a good response.

However, patients were noted to have defects in B cell tolerance, meaning that some B cells that react to antigens from the body fail to be eliminated, leading to an autoimmune response. Dr. Eric Meffre and colleages at Yale University in New Haven, Connecticut and Alessandro Aiuti in Milan, Italy joined together to better understand why patients developed B cell tolerance problems. They found that loss of the ADA gene directly contributes to B cell tolerance problems and that these defects are mostly corrected after gene therapy. Their results point to a previously unknown role for ADA in B cell response and support the use of gene therapy as an effective treatment option for ADA-deficient severe combined immunodeficiency patients.

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TITLE:

Defective B cell tolerance in adenosine deaminase deficiency is corrected by gene therapy

AUTHOR CONTACT:

Eric Meffre Yale University School of Medicine, New Haven, CT, USA Phone: 1-203-737-4535; Fax: 1-203-785-7903; E-mail: eric.meffre@yale.edu

ACCOMPANYING COMMENTARY

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Gene therapy can correct forms of severe combined immunodeficiency

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

Transgenomic, Inc. (TBIO.OB) today announced it has entered into an agreement with Gene Logic, Inc., an Ocimum Biosolutions Company, to acquire its biorepository assets for $250,000 in cash. The biorepository contains thousands of human biological samples that can be used to validate diagnostic assays developed by Transgenomic. Transgenomic will use the samples to develop and validate its REVEAL family of proprietary ICE COLD-PCR-based oncology assays, as well as its WAVE MCE System and SURVEYOR Scan Mutation Detection Kits.

This transaction significantly strengthens Transgenomics position in translational medicine services, providing a deep source of clinical samples allowing us to validate new drug-associated genetic targets, said Craig Tuttle, Chief Executive Officer of Transgenomic. The biorepository provides not only strategic and operational benefits, but also long-term cost savings. Acquiring specimens on a case-by-case basis is expensive and time-consuming; such expenditure would quickly surpass the cost of acquiring this asset.

The Gene Logic biorepository consists of a high quality, diverse collection of human tissue samples and extracted DNA specimens with linked clinical information. The 60,000 samples and specimens cover multiple disease areas, including many thousands of cancer tissue specimens.

About Transgenomic

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 specializes in molecular diagnostics for cardiology, neurology, mitochondrial disorders, and oncology. Transgenomic Diagnostic Tools 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 strengthen 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.

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Transgenomic Acquires Clinical Sample Biorepository from Gene Logic

ScienceDaily (May 24, 2012) Researchers at NYU School of Medicine have, for the first time, identified a single gene that simultaneously controls inflammation, accelerated aging and cancer.

"This was certainly an unexpected finding," said principal investigator Robert J. Schneider, PhD, the Albert Sabin Professor of Molecular Pathogenesis, associate director for translational research and co-director of the Breast Cancer Program at NYU Langone Medical Center. "It is rather uncommon for one gene to have two very different and very significant functions that tie together control of aging and inflammation. The two, if not regulated properly, can eventually lead to cancer development. It's an exciting scientific find."

The study, funded by the National Institutes of Health, appears online ahead of print May 24 in Molecular Cell and is scheduled for the July 13 print issue.

For decades, the scientific community has known that inflammation, accelerated aging and cancer are somehow intertwined, but the connection between them has remained largely a mystery, Dr. Schneider said. What was known, due in part to past studies by Schneider and his team, was that a gene called AUF1 controls inflammation by turning off the inflammatory response to stop the onset of septic shock. But this finding, while significant, did not explain a connection to accelerated aging and cancer.

When the researchers deleted the AUF1 gene, accelerated aging occurred, so they continued to focus their research efforts on the gene. Now, more than a decade in the making, the mystery surrounding the connection between inflammation, advanced aging and cancer is finally being unraveled.

The current study reveals that AUF1, a family of four related genes, not only controls the inflammatory response, but also maintains the integrity of chromosomes by activating the enzyme telomerase to repair the ends of chromosomes, thereby simultaneously reducing inflammation, preventing rapid aging and the development of cancer, Dr. Schneider explained.

"AUF1 is a medical and scientific trinity," Dr. Schneider said. "Nature has designed a way to simultaneously turn off harmful inflammation and repair our chromosomes, thereby suppressing aging at the cellular level and in the whole animal."

With this new information, Dr. Schneider and colleagues are examining human populations for specific types of genetic alterations in the AUF1 gene that are associated with the co-development of certain immune diseases, increased rates of aging and higher cancer incidence in individuals to determine exactly how the alterations manifest and present themselves clinically.

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Key gene found responsible for chronic inflammation, accelerated aging and cancer