Selling health care law tricky on campaign trail

President Obamas health care law has helped millions of Americans obtain insurance coverage, prescription-drug discounts and premium rebates but with only part of the overhaul in place and widespread confusion about what it does, the administration is still struggling to sell it to voters.

In the 2 years since Mr. Obama signed the Affordable Care Act, the administration has been frenetic in highlighting tangible benefits. On Tuesday, it announced that Americans saved $1 billion from rate increases that never happened but could have if the law didnt force companies to publicly justify any increases.

But the heftiest parts of the law, including a massive Medicaid expansion and the insurance exchanges estimated to cover 40 million uninsured, wont take effect until well after the November election, meaning most Americans arent seeing major changes.

Even when they are seeing benefits, they dont connect them with the law.

A lot of people may have noticed their flu shot was free this year, but might not have credited it to the Affordable Care Act, so I think a lot of the effects may have gotten unnoticed, said Tim Jost, a professor at Washington and Lee University who is a specialist on the health care law.

Meanwhile, health care costs continue to rise, complicating matters for the president, who promised that the law would bend the cost curve.

An annual survey released Tuesday by the Kaiser Family Foundation found that family insurance premiums cost $15,745 on average this year, 4 percent higher than last year. While the recession has slowed growth in recent years, premiums have nearly doubled since 2002.

The administration said the increases werent good but promised better news when the law is fully implemented.

We certainly arent happy to see any increase in health insurance premiums, and we look forward to when the provisions of the Affordable Care Act go into effect which will reduce premiums for American consumers and businesses, said Gary Cohen, who directs the Center for Consumer Information and Insurance Oversight at the Department of Health and Human Services.

Polls show that half the country opposes the law, and Mr. Obama didnt mention it in his speech last week at the Democratic National Convention in Charlotte, N.C.

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Selling health care law tricky on campaign trail

Care Connectivity Consortium Takes Care Coordination To New Levels For Patients And Providers

WASHINGTON, Sept. 11, 2012 /PRNewswire/ --Health care is better with the health information exchange among members of the Care Connectivity Consortium, according to providers and patients.

Carol McNair, 75, and her husband Steve, 81, live in Herron Island, Wash., and have experienced the benefits of health information exchange firsthand. They travel each December from their home to Desert Hot Springs, Calif., for several months of sunshine, and say this winter reprieve would not be possible without the collaboration between their primary care physician at Group Health Cooperative and their Kaiser Permanente physician in Palm Springs, Calif.

During a recent visit to California, Carol began feeling poorly and suspected it could be because of her medications. "I was helping my daughter pick out a wedding dress and just wasn't feeling right. My Kaiser Permanente physician, Dr. Kirk Pagel, was able to review my medications on my electronic medical record and adjust them right away. It's important to me that my doctors have this kind of connectivity and can communicate, so I know I'm always getting the best care."

The Care Connectivity Consortium was created in April 2011 by five health systemsKaiser Permanente, Mayo Clinic, Group Health Cooperative, Intermountain Healthcare and Geisinger Health Systemto connect doctors electronically, enabling them to have comprehensive access to patients' medical record information and provide better patient care.Since its formation, the Consortium has developed standards-based information technology to connect doctors across the country. Today, CCC partners can exchange information across all five organizations in select geographic and specialty areas.

By connecting seamlessly to another member of the Care Connectivity Consortium, Kirk Pagel, M.D., the McNairs' Kaiser Permanente physician in Palm Springs can view the McNairs' most recent Group Health Cooperative medical records.

"Dr. Pagel is able to care for us as if we were his year-round patients," said Steve McNair. "Even though we only see him three to four months out of the year, I feel like he's always up to date on our health and a large part of that is due to the data connectivity between Group Health Cooperative and Kaiser Permanente."

Through the work of the Care Connectivity Consortium, clinicians are finding that having access to their patients' comprehensive medical history makes them feel more equipped to provide high-quality, safe care.

"The health information exchange capability with other providers in the Care Connectivity Consortium gives me a more thorough picture of my patients' health before they even walk into the exam room," Dr. Pagel said. "Armed with the right information at the right time, I can give my patients the best care possible."

With patient privacy and security as overarching priorities, the CCC partners are taking the practical steps needed to link pertinent patient data between the separate care systems and medical records, therefore demonstrating the possibility of higher quality and safer care with improved data availability.

Leaders of the five health systems believe that achieving electronic health information interoperability and connectivity will be a critical next step in the United States moving toward 21st century, information-enabled health care.

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Care Connectivity Consortium Takes Care Coordination To New Levels For Patients And Providers

How Much Savings Is Left in U.S. Medicine? Lots.

By Peter Orszag 2012-09-11T22:30:47Z

Last week, two important reports underscored the potential for improving the value of health care in the U.S.

The first of these, Best Care at Lower Cost: The Path to Continuously Learning Health Care in America, issued by the Institute of Medicine, highlights two crucial facts. The first is that the health system provides a great volume of care that doesnt help patients. The authors write there is evidence that a substantial proportion of health care expenditures is wasted, leading to little improvement in health or in the quality of care. Estimates vary on waste and excess health care costs, but they are large -- possibly amounting to more than $750 billion in a single year.

As the report notes, that is enough to pay the full salaries of all the nations firefighters, police officers, and emergency medical technicians for more than a decade.

Second, medicine is becoming so complex that it is virtually impossible for an individual doctor to keep pace -- especially without help from computers, the institute says. Consider that the number of medical journal articles has risen to more than 750,000 a year, from 200,000 in 1970. Diagnostic and treatment options are expanding and changing at an accelerating rate, placing new stresses on clinicians and patients, as well as potentially impacting the effectiveness and efficiency of care delivery, the report concludes.

This report reaches well beyond diagnosis, however. It recommends sensible steps to move us toward a continuously learning health system. One of these is to give doctors and other providers expanded real-time access to the latest knowledge through the widespread use of clinical-decision- support computer software, bolstered by continuously updated data on clinical experience.

A second set of recommendations involves health-care payment policies, which, as the institute argues, strongly influence how care is delivered. The U.S. needs to move faster away from paying providers a fee for each service and instead pay for what they accomplish toward helping patients. The report also calls on health-care leaders to promote and develop a culture of learning among doctors, while also empowering patients by giving them more information about their own medical decisions.

The second important health-care report last week, published in Health Affairs, is based on a comparison of health- care costs and quality among various regions. Although a vast body of previous research has explored the wide variance within Medicare -- and has shown that there is no apparent correlation between cost and quality -- this analysis used data from the private insurer UnitedHealth.

The private-insurance data also show tremendous variation. For common chronic conditions, for example, the least-expensive costs per medical episode (those at the 10th percentile of all episodes) were about one fifth to one third less than the median, while the most expensive costs per episode (at the 90th percentile) were three to five times the median. In other words, the highest costs are more than 10 times the lowest -- for treating the same condition. The team also found significant variation both within and across regions.

This variation might be understandable if the higher spending bought better results. However, according to the researchers, for the conditions that we analyzed, we found essentially no correlation between average costs and the measured level of care quality across markets.

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How Much Savings Is Left in U.S. Medicine? Lots.

Eight Tips for Participants of Employer Sponsored Health Insurance During Open Enrollment

BOSTON--(BUSINESS WIRE)--

HighRoads, the industry leader in employer health care regulation compliance and benefits management, today shared eight tips for employees as they navigate their annual employer benefits open enrollment period. Following these simple steps may save employees hundreds of dollars on their health care costs while ensuring that they make the most of their benefit plan programs.

Employers are making more changes than ever to their benefits plan designs and as a result employees need to take extra precautions to assure that they have the benefits coverage they expect, for a price they can afford, during this years open enrollment period, said Cynthia Weidner, vice president H&W consulting, HighRoads. This is the time for employees, retirees and their families to consider all of their options, including health savings accounts and wellness programs, to make the most of their benefits while minimizing out of pocket costs for the year to come.

Now that the Supreme Court has upheld the Affordable Care Act (ACA), employees will see some changes in their annual open enrollment benefits materials. For many employees this will include the addition of a Summary of Benefits and Coverage (SBC) document. SBCs are benefit plan summaries that are intended to benefit employees by creating clear, understandable and straightforward information on what health plans will cover, what limitations or conditions will apply, and what they will pay for, according to the U.S. Department of Health and Human Services.

However, reading the SBC alone may not provide employees with everything they need to make informed decisions during open enrollment. Following these eight tips can help to eliminate an employees risk of unexpected plan changes or cost increases:

1. Get your plan materials Pay attention to how your employer is making your SBCs and the traditional Summary Plan Descriptions (SPDs) available to you. Many are making them more accessible online, via mobile apps as well as on paper. Its good to know how you can access this information during open enrollment and throughout the year, in case you want to review it again when you are in need of a particular medical service.

2. Do your homework Take the time during open enrollment to truly read through your plan materials, including the SBCs and SPDs, to make yourself familiar with each of your plan options. Reading each of these materials will give you the detailed plan descriptions you need to decide on the best plan for you and your family in the coming year.

3. Calculate your costs Many employers provide cost calculators to help project your total cost for the coming plan year. The total cost includes the premium you pay as well as your share of the deductible and coinsurance. Take the time during open enrollment to think through your potential medical needs and calculate your anticipated expenses before selecting a plan. It may save you hundreds in the long run.

4. Consider an account If your employer offers you the option of a healthcare account, whether it is a flexible spending account (FSA), a health reimbursement account (HRA) or a health savings account (HSA), take a good look at it. These accounts can help you save money on qualified medical expenses that arent covered by your health care plan, such as deductibles and coinsurance. Each account has a different set of rules about how and when you can spend the money, but each are worth considering because the savings youll see can add up quickly.

5. Ask if you have a grandfathered plan. One of the benefits of health care reform is an extended list of preventive care benefits that must be offered by new health care plans for free. Preventive services such as colonoscopy screenings for colon cancer, Pap smears and mammograms for women, well-child visits, and flu shots for all children and adults must be offered without out-of-pocket costs. However, these benefits are only for new health plans and dont apply to grandfathered plans that havent significantly changed in a few years. Find out if your plan is considered to be grandfathered and identify exactly what preventive services are covered for free.

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Eight Tips for Participants of Employer Sponsored Health Insurance During Open Enrollment

Vanderbilt's BioVU Databank Now World's Largest Human DNA Repository Linked to Searchable, Electronic Health Information

Newswise African-Americans dont get kidney stones as frequently as Caucasians.

Are they protected genetically? If so, identifying the genetic factors that retard kidney stone formation could lead to new ways to treat or even prevent this painful condition, according to Vanderbilt University researcher Todd Edwards, Ph.D.

Kidney stones afflict one of every 11 Americans and cost the country more than $2 billion annually. Avoiding them could really make a difference for a lot of people, and could cut health costs dramatically, he said.

Until recently, teasing out complicated kidney stone genetics would have required years of study, tens of thousands of patients and hundreds of millions of dollars. Now thanks to BioVU, Vanderbilts massive DNA databank, the mother lode is within reach.

This month BioVU logged in its 150,000th unique genetic sample. It is now the worlds largest collection of human DNA linked to searchable, electronic health information, said Dan Roden, M.D., assistant vice chancellor for Personalized Medicine at Vanderbilt and BioVUs principal investigator.

BioVU began collecting DNA in 2007. Discarded blood specimens from Vanderbilt patients are sent to the DNA Resources Core, where the genetic material is extracted and stored. If patients check a box on a consent form, their leftover blood will not be used, but few choose to opt out.

The DNA samples are bar-coded and, along with their matching electronic health records, scrubbed of information that could identify individual patients.

The resulting genetic gold mine enables Vanderbilt researchers to quickly pull and analyze the DNA of hundreds of people with particular health conditions or responses to medication.

Before proceeding, BioVU investigators must be approved by Vanderbilts Institutional Review Board, sign a data use agreement, and determine, with the help of a BioVU project manager, the feasibility of their idea. Their proposals are then considered by separate pre-review and full review committees consisting of Vanderbilt faculty members.

To date, more than 50 BioVU studies have been approved and are under way.

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Vanderbilt's BioVU Databank Now World's Largest Human DNA Repository Linked to Searchable, Electronic Health Information

UCLA stem cell researchers use gene therapy to restore immune systems in 'bubble babies'

Public release date: 11-Sep-2012 [ | E-mail | Share ]

Contact: Kim Irwin kirwin@mednet.ucla.edu 310-435-9457 University of California - Los Angeles Health Sciences

UCLA stem cell researchers have found that a gene therapy regimen can safely restore immune systems to children with so-called "Bubble Boy" disease, a life threatening condition that if left untreated can be fatal within one to two years.

In the 11-year study, researchers were able to test two therapy regimens for 10 children with ADA-deficient severe combined immunodeficiency (SCID). During the study, they refined their approach to include a light dose of chemotherapy to help remove many of the blood stem cells in the bone marrow that are not creating an enzyme called adenosine deaminase (ADA), which is critical for the production and survival of healthy white blood cells, said study senior Dr. Donald Kohn, a professor of pediatrics and of microbiology, immunology, and molecular genetics in Life Sciences and a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.

The refined gene therapy and chemotherapy regimen proved superior to the other method tested in the study, restoring immune function to three of the six children who received it, Kohn said. Going forward, an even further refined regimen using a different type of virus delivery system will be studied in the next phase of the study, which already has enrolled eight of the 10 patients needed.

The study appears Aug. 30 in the advance online issue of the peer-reviewed journal Blood.

"We were very happy that in the human trials we were able to see a benefit in the patients after we modified the protocol," Kohn said. "Doctors treating ADA-deficient SCID have had too few options for too long, and we hope this will provide them with an efficient and effective treatment for this devastating disease."

Children born with SCID, an inherited immunodeficiency, are generally diagnosed at about six months. They are extremely vulnerable to infectious diseases and don't grow well. Chronic diarrhea, ear infections, recurrent pneumonia and profuse oral candidiasis commonly occur in these children. SCID cases occur in about 1 of 100,000 births

Currently, the only treatment for ADA-deficient SCID calls for injecting the patients twice a week with the necessary enzyme, Kohn said, a life-long process that is very expensive and often doesn't return the immune system to optimal levels. These patients also can undergo bone marrow transplants from matched siblings, but matches can be very rare.

About 15 percent of all SCID patients are ADA-deficient. Kohn and his team used a virus delivery system that he had developed in his lab in the 1990s to restore the gene that produces the missing enzyme necessary for a healthy immune system. To date, about 40 children with SCID have received gene therapy in clinical trials around the world, Kohn said.

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UCLA stem cell researchers use gene therapy to restore immune systems in 'bubble babies'

Stem cell researchers use gene therapy to restore immune systems in 'Bubble Boy' disease

ScienceDaily (Sep. 11, 2012) UCLA stem cell researchers have found that a gene therapy regimen can safely restore immune systems to children with so-called "Bubble Boy" disease, a life threatening condition that if left untreated can be fatal within one to two years.

In the 11-year study, researchers were able to test two therapy regimens for 10 children with ADA-deficient severe combined immunodeficiency (SCID). During the study, they refined their approach to include a light dose of chemotherapy to help remove many of the blood stem cells in the bone marrow that are not creating an enzyme called adenosine deaminase (ADA), which is critical for the production and survival of healthy white blood cells, said study senior Dr. Donald Kohn, a professor of pediatrics and of microbiology, immunology, and molecular genetics in Life Sciences and a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.

The refined gene therapy and chemotherapy regimen proved superior to the other method tested in the study, restoring immune function to three of the six children who received it, Kohn said. Going forward, an even further refined regimen using a different type of virus delivery system will be studied in the next phase of the study, which already has enrolled eight of the 10 patients needed.

The study appears Aug. 30 in the advance online issue of the peer-reviewed journal Blood.

"We were very happy that in the human trials we were able to see a benefit in the patients after we modified the protocol," Kohn said. "Doctors treating ADA-deficient SCID have had too few options for too long, and we hope this will provide them with an efficient and effective treatment for this devastating disease."

Children born with SCID, an inherited immunodeficiency, are generally diagnosed at about six months. They are extremely vulnerable to infectious diseases and don't grow well. Chronic diarrhea, ear infections, recurrent pneumonia and profuse oral candidiasis commonly occur in these children. SCID cases occur in about 1 of 100,000 births

Currently, the only treatment for ADA-deficient SCID calls for injecting the patients twice a week with the necessary enzyme, Kohn said, a life-long process that is very expensive and often doesn't return the immune system to optimal levels. These patients also can undergo bone marrow transplants from matched siblings, but matches can be very rare.

About 15 percent of all SCID patients are ADA-deficient. Kohn and his team used a virus delivery system that he had developed in his lab in the 1990s to restore the gene that produces the missing enzyme necessary for a healthy immune system. To date, about 40 children with SCID have received gene therapy in clinical trials around the world, Kohn said.

Two slightly different viral vectors were tested in the study, each modified to deliver healthy ADA genes into the bone marrow cells of the patients so the needed enzyme could be produced and make up for the cells that don't have the gene. Four of the 10 patients in the study remained on their enzyme replacement therapy during the gene therapy study. There were no side effects, but their immune systems were not sufficiently restored, Kohn said.

In the next six patients, the enzyme therapy was stopped and a small dose of chemotherapy was given before starting the gene therapy to deplete the ADA-deficient stem cells in their bone marrow. Of those patients, half had their immune systems restored. The human findings confirmed another study, also published recently in Blood by Kohn and UCLA colleague Dr. Denise Carbonaro-Sarracino, which tested the techniques in parallel, using a mouse model of ADA-deficient SCID.

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Stem cell researchers use gene therapy to restore immune systems in 'Bubble Boy' disease

Gene therapy technique for children with immune disorder improved

ScienceDaily (Sep. 11, 2012) By including chemotherapy as a conditioning regimen prior to treatment, researchers have developed a refined gene therapy approach that safely and effectively restores the immune system of children with a form of severe combined immunodeficiency (SCID), according to a study published online September 11 in Blood, the Journal of the American Society of Hematology (ASH).

SCID is a group of rare and debilitating genetic disorders that affect the normal development of the immune system in newborns. Infants with SCID are prone to serious, life-threatening infections within the first few months of life and require extensive treatment for survival beyond infancy.

Adenosine deaminase (ADA) deficiency, which accounts for approximately 15 percent of all SCID cases, develops when a gene mutation prohibits the production of ADA, an enzyme that breaks down toxic molecules that can accumulate to harmful levels and kill lymphocytes, the specialized white blood cells that help make up the immune system. In its absence, infants with ADA-deficient SCID lack almost all immune defenses and their condition is almost always fatal within two years if left untreated. Standard treatment for ADA-deficient SCID is a hematopoietic stem cell transplant (HSCT) from a sibling or related donor; however, finding a matched donor can be difficult and transplants can carry significant risks. An alternate treatment method, enzyme replacement therapy (ERT), involves regular injections of the ADA enzyme to maintain the immune system and can help restore immune function; however, the treatments are extremely expensive and painful for the young patients and the effects are often only temporary.

Given the limitations of HSCT and ERT, in the 1990s researchers began investigating the efficacy of gene therapy for ADA-deficient SCID. They discovered that they could "correct" the function of a mutated gene by adding a healthy copy into the cells of the body that help fight infectious diseases. Since then, there have been significant advances in gene therapy for SCID, yet successful gene therapy in patients with ADA-deficient SCID has been seen in only a small series of children due to the difficulty of introducing a healthy ADA gene into bone marrow stem cells and to engraft these cells back into the patients.

"Although the basic steps of gene therapy for patients with SCID have been known for a while, technical and clinical challenges still exist and we wanted to find an optimized gene therapy protocol to restore immunity for young children with ADA-deficient SCID," said Fabio Candotti, MD, one of the study's senior authors, senior investigator in the Genetics and Molecular Biology Branch of the National Human Genome Research Institute at the National Institutes of Health, and chair of the ASH Scientific Committee on Immunology and Host Defense.

To determine whether an enhanced gene therapy approach would improve immunity in children with ADA-deficient SCID, the teams of Dr. Candotti and Donald B. Kohn, MD, director of the Human Gene Medicine Program at the University of California, Los Angeles (UCLA), Professor of Pediatrics and of Microbiology, Immunology, and Molecular Genetics, and a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, conducted a clinical trial in 10 patients with the disorder. For the first time, Drs. Candotti and Kohn and their team of investigators compared two different retroviral vectors, MND-ADA and GCsapM-ADA, to transport normal ADA genes into the young patients' bone marrow stem cells as well as two different treatment plans in preparation for receiving gene therapy. Following therapy, investigators found that more bone marrow stem cells were marked with the MND-ADA vector, demonstrating its superiority over the GCsapM-ADA vector.

The investigators also sought to determine whether providing a low dose of chemotherapy prior to gene therapy, known as a pre-transplant conditioning regimen, would successfully deplete the young patients' bone marrow stem cells and make room for gene-corrected stem cells. In four patients, gene therapy was performed without chemotherapy, and the patients remained on ERT throughout the entire procedure to evaluate the efficiency of ERT combined with gene therapy. While these patients did not experience any adverse effects, they also did not experience a significant increase in their levels of the ADA enzyme. They also maintained low absolute lymphocyte counts (ALC) and minimal immune system function, leading the researchers to believe that ERT may weaken the therapy's effect by diluting the number of gene-corrected lymphocytes.

The remaining six patients were treated with the chemotherapy drug busulfan prior to gene therapy and ERT was discontinued prior to the gene therapy procedure. A significant increase in ADA was observed in all six patients; half of them remain off of ERT with partial immune reconstitution -- findings that support results from prior trials in Italy and the United Kingdom using chemotherapy prior to gene therapy and discontinuting ERT. While the ALC of all six patients declined sharply in the first few months due to combined effects of busulfan administration and ERT withdrawal, their counts increased from six to 24 months, even in the three patients that remained off of ERT. After adjusting the chemotherapy dosage, investigators were able to determine an optimal level for enhancing the efficacy of the gene-therapy-corrected cells with minimal toxicity.

This study is the first to detail comparisons of ADA-deficient SCID patient outcomes between those treated with gene therapy who have not received pre-transplant conditioning while continuing to receive ERT with those receiving pre-transplant conditioning without the administration of ERT. This study is also the first to compare two different viral vectors to transport normal ADA genes into patient bone marrow.

"We were very happy that in this trial we were able to see a benefit in the patients after we modified the protocol," said Dr. Kohn. "Doctors treating ADA-deficient SCID have had too few options for too long, and we hope this will provide them with an efficient and effective treatment for this devastating disease."

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Gene therapy technique for children with immune disorder improved

NIH researchers restore children's immune systems with refinements in gene therapy

Public release date: 11-Sep-2012 [ | E-mail | Share ]

Contact: Raymond MacDougall macdougallr@mail.nih.gov 301-402-0911 NIH/National Human Genome Research Institute

Researchers have demonstrated that a refined gene therapy approach safely restores the immune systems of some children with severe combined immunodeficiency (SCID). The rare condition blocks the normal development of a newborn's immune system, leaving the child susceptible to every passing microbe. Children with SCID experience chronic infections, which usually triggers the diagnosis. Their lifespan is two years if doctors cannot restore their immunity.

The findings from facilities including the National Institutes of Health, the University of California, Los Angeles (UCLA), and the Children's Hospital Los Angeles, are reported in the Sept. 11, 2012, advanced online issue of the journal Blood, the official journal of the American Society of Hematology.

In the 11-year study, the researchers tested a combination of techniques for gene therapy, arriving at one that produced normal levels of immune function for three patients.

"Doctors who treat patients with SCID have had limited treatment options for too long," said Dan Kastner, M.D., Ph.D., scientific director of the National Human Genome Research Institute (NHGRI), part of the NIH. "The research teams and the patients who have participated in the studies have together achieved an impressive advance toward a cure that is welcome news for both the scientific and patient communities."

Gene therapy is an experimental method for treating patients with genetic diseases. It is intended to integrate functioning genes among those naturally existing in the cells of the body to make up for faulty genes. Researchers in the current study tested a set of methods to improve outcomes for children with a particular form of SCID.

"This is a highly rewarding study for those of us in the clinic and lab," said Fabio Candotti, M.D., a senior author and a senior investigator in NHGRI's Genetics and Molecular Biology Branch. "Not only have we realized an important advancement in gene therapy, but we have seen a renewal of health in our patients."

While rare, SCID became widely known because of the remarkable boy-in-the-bubble story of the 1970s. The story was based in part on a boy named David Vetter, who lived for 13 years in a plastic isolation unit to protect him from infections. He died following an unsuccessful bone marrow transplant that doctors had hoped would repair his immune system.

SCID has many causes. In one type, a gene that produces the adenosine deaminase (ADA) enzyme becomes mutated and fails to produce the normal enzyme. Without ADA, a chemically altered form of adenosine, one of DNA's building blocks, accumulates in rapidly dividing bone marrow cells, killing them and destroying the immune system in the process. Normal bone marrow makes healthy white blood cells, or lymphocytes, which are the key players in the immune response that reacts against harmful bacteria and destroys cells infected by viruses. ADA deficiency accounts for some 15 percent of SCID cases.

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NIH researchers restore children's immune systems with refinements in gene therapy

Researchers improve gene therapy technique for children with immune disorder

Public release date: 11-Sep-2012 [ | E-mail | Share ]

Contact: Claire Gwayi-Chore cgwayi-chore@hematology.org 202-776-0544 American Society of Hematology

By including chemotherapy as a conditioning regimen prior to treatment, researchers have developed a refined gene therapy approach that safely and effectively restores the immune system of children with a form of severe combined immunodeficiency (SCID), according to a study published online today in Blood, the Journal of the American Society of Hematology (ASH).

SCID is a group of rare and debilitating genetic disorders that affect the normal development of the immune system in newborns. Infants with SCID are prone to serious, life-threatening infections within the first few months of life and require extensive treatment for survival beyond infancy.

Adenosine deaminase (ADA) deficiency, which accounts for approximately 15 percent of all SCID cases, develops when a gene mutation prohibits the production of ADA, an enzyme that breaks down toxic molecules that can accumulate to harmful levels and kill lymphocytes, the specialized white blood cells that help make up the immune system. In its absence, infants with ADA-deficient SCID lack almost all immune defenses and their condition is almost always fatal within two years if left untreated. Standard treatment for ADA-deficient SCID is a hematopoietic stem cell transplant (HSCT) from a sibling or related donor; however, finding a matched donor can be difficult and transplants can carry significant risks. An alternate treatment method, enzyme replacement therapy (ERT), involves regular injections of the ADA enzyme to maintain the immune system and can help restore immune function; however, the treatments are extremely expensive and painful for the young patients and the effects are often only temporary.

Given the limitations of HSCT and ERT, in the 1990s researchers began investigating the efficacy of gene therapy for ADA-deficient SCID. They discovered that they could "correct" the function of a mutated gene by adding a healthy copy into the cells of the body that help fight infectious diseases. Since then, there have been significant advances in gene therapy for SCID, yet successful gene therapy in patients with ADA-deficient SCID has been seen in only a small series of children due to the difficulty of introducing a healthy ADA gene into bone marrow stem cells and to engraft these cells back into the patients.

"Although the basic steps of gene therapy for patients with SCID have been known for a while, technical and clinical challenges still exist and we wanted to find an optimized gene therapy protocol to restore immunity for young children with ADA-deficient SCID," said Fabio Candotti, MD, one of the study's senior authors, senior investigator in the Genetics and Molecular Biology Branch of the National Human Genome Research Institute at the National Institutes of Health, and chair of the ASH Scientific Committee on Immunology and Host Defense.

To determine whether an enhanced gene therapy approach would improve immunity in children with ADA-deficient SCID, the teams of Dr. Candotti and Donald B. Kohn, MD, director of the Human Gene Medicine Program at the University of California, Los Angeles (UCLA), Professor of Pediatrics and of Microbiology, Immunology, and Molecular Genetics, and a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, conducted a clinical trial in 10 patients with the disorder. For the first time, Drs. Candotti and Kohn and their team of investigators compared two different retroviral vectors, MND-ADA and GCsapM-ADA, to transport normal ADA genes into the young patients' bone marrow stem cells as well as two different treatment plans in preparation for receiving gene therapy. Following therapy, investigators found that more bone marrow stem cells were marked with the MND-ADA vector, demonstrating its superiority over the GCsapM-ADA vector.

The investigators also sought to determine whether providing a low dose of chemotherapy prior to gene therapy, known as a pre-transplant conditioning regimen, would successfully deplete the young patients' bone marrow stem cells and make room for gene-corrected stem cells. In four patients, gene therapy was performed without chemotherapy, and the patients remained on ERT throughout the entire procedure to evaluate the efficiency of ERT combined with gene therapy. While these patients did not experience any adverse effects, they also did not experience a significant increase in their levels of the ADA enzyme. They also maintained low absolute lymphocyte counts (ALC) and minimal immune system function, leading the researchers to believe that ERT may weaken the therapy's effect by diluting the number of gene-corrected lymphocytes.

The remaining six patients were treated with the chemotherapy drug busulfan prior to gene therapy and ERT was discontinued prior to the gene therapy procedure. A significant increase in ADA was observed in all six patients; half of them remain off of ERT with partial immune reconstitution findings that support results from prior trials in Italy and the United Kingdom using chemotherapy prior to gene therapy and discontinuting ERT. While the ALC of all six patients declined sharply in the first few months due to combined effects of busulfan administration and ERT withdrawal, their counts increased from six to 24 months, even in the three patients that remained off of ERT. After adjusting the chemotherapy dosage, investigators were able to determine an optimal level for enhancing the efficacy of the gene-therapy-corrected cells with minimal toxicity.

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Researchers improve gene therapy technique for children with immune disorder

Kirskey, Freedom capture county's opening girls golf match

Credit: Tommy Fleming | The News Herald

East Burke junior Elizabeth Abee watches her tee shot on the fourth hole during Mondays county-opening match at Pine Mountain Golf Course.

The Freedom High girls golf team scorched the falls opening-day, nine-hole round Monday at Pine Mountain Golf Course.

Led by medalist Megan Kirkseys 45, the Lady Patriots (139) posted three finishers in the 40s en route to a 10-stroke victory over host East Burke (149) on Monday. Patton (157) finished third while Draughn (176) took fourth.

Kirksey, a 3A state qualifier in 2011, made par at the 150-yard third hole with a lengthy putt.

Im happy with my score because I usually have problems on this course. I have started out this senior season well and am excited to see what else I can do, Kirksey said. I dont think anyone on our team broke 50 last year ... so it was exciting to see three players on our team shoot in the 40s.

Freedom senior Paula Davis and junior Annie Dehart each carded rounds of 47 to help pace the team, while Kayla Roether posted a 56 in her first high school round.

EB was paced by juniors Lauren Arney and Elizabeth Abees rounds of 49. Senior Jordan Moore turned in a 51 while freshman Morgan Byles tallied a 54.

Seniors Ali Stephens (51) and Emma Miller (52), along with sophomore Katie LeCroy (54), led the Lady Panthers scoring. Brittany Kimmer carded a 55 while the trio of Kaitlin Berry, Elizabeth Fisher and Caroline Smith fired rounds of 57.

Draughn, the defending county champs with only one returning starter in their lineup, battled the mountainous terrain with some obstacles but tamed other goals in the opening round. Sophomore Rachel Farley led the Lady Wildcats with a 58. Lindsey Lawson (59), Kailey Humphries (59) and Ashley Brittain (61) rounded out the DHS scoring.

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Kirskey, Freedom capture county's opening girls golf match

Murray offered freedom of city

11 September 2012 Last updated at 14:27 ET

US Open champion Andy Murray has been offered the freedom of Stirling after his grand slam victory.

Stirling Council has been in touch with Murray's management team to discuss an appropriate tribute to what it called "the local hero".

The 25-year-old from Dunblane, near Stirling, beat Serbia's Novak Djokovic in five sets.

Murray's mother Judy told BBC Scotland that watching her son's match in New York had been "absolute torture".

She said the "momentum" had been with Djokovic after Murray had lost a two-set lead.

"But at the start of the fifth I had a feeling," she said.

"I could see from Andy's face and his mannerisms that he wasn't going to let it get away from him and he did an incredible job.

"It was just an incredible experience and I'm so delighted for him that he's got his first Grand Slam at last."

Murray's triumph at Flushing Meadows followed his gold medal at the Olympics last month.

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Murray offered freedom of city

Paramus Freedom Walk honors victims

Despite the threat of rain the sixth annual Paramus Freedom Walk was held without any problems, continuing the borough's annual tradition of honoring the victims of Sept. 11, 2001 and the nation's first responders.

PHOTOS/SCOTT GILROY

Paramus Freedom Walk Committee members lead the walk.

Event organizer Joey Rizzolo thanks the attendees and volunteers as Paramus Mayor Richard LaBarbiera looks on.

While smaller than last year's event, this year's walk was no less successful, according to Freedom Walk Committee founder and chair Joey Rizzolo, a Paramus High School Student. He estimated taht between 300 and 400 attendees came to the Paramus Library Bandshell for the event, and noted that they ran out of their 200 free t-shirts for participants well before the even began.

"It wasn't really about how many people were here, it was more about why they are here," Rizzolo said. "Everyone came out for the right cause, and it was a great day."

A moment of silence was held for all 2,977 victims who died in the attack, with special mention given to Paramus residents. Among the walk's special guests were members of the Navas and Pandolfo families, who each lost a family member on 9/11. "Paramus felt this loss close with the passing of seven members of our community," Rizzolo said.

The walk made a brief stop by Howland Memorial Grove, the park where seven plaques reside in the memory of each Paramus resident who died that day. Rizzolo and committee members placed flowers at each plaque as a tribute to the victims and their families.

After returning from the walk, participants were greeted by hamburgers and popcorn provided by the Boy Scouts and the Elk's Club.

Mayor Richard LaBarbiera commended the Freedom Walk Committee's "perseverance and hard work," citing them as the reason Paramus residents will never forget.

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Paramus Freedom Walk honors victims

BP proposes deep cleaning of Louisiana beaches in aftermath of Hurricane Isaac

BP Gulf Coast Restoration Organization President Mike Utsleron Tuesday announced thatthe company has requested permission to "deep clean" beaches on Grand Isle, Grand Terre Island, Fourchon Beach and Elmer's Island to remove oil that was uncovered during Hurricane Isaac. The plan would be aimed at weathered oil deposited in the aftermath of the 2010 Deepwater Horizon oil spill and covered by sand during Tropical Storm Bonnie later that year.

The deep cleaning process is a beach equivalent of steam cleaning a home's carpet, but would wash sand deeper along the beach than had occurred in earlier removal efforts along those beaches. The process was used extensively along "amenity" beaches used by tourists in Mississippi, Alabama and the Florida panhandle.

Utsler said the plan would have to be approved by the Deepwater Horizon Incident Management Team led by the U.S. Coast Guard. Such a plan was rejected in the immediate aftermath of the spill as too dangerous to the environment along those beaches, as the process kills microorganisms and small animals that live in the sand.

Utsler said initial indications are that there has been no additional oiling of inland wetlands in Louisiana, but that high water remaining in the wetlands continues to slow checks. He also said that the tar balls and tar mats found in the aftermath of Isaac was in areas where oil was known to have been onshore, and no new areas have been oiled.

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BP proposes deep cleaning of Louisiana beaches in aftermath of Hurricane Isaac

Kerry’s beaches still being monitored after wet summer reveals ‘elevated’ E.coli results

By Donal Hickey

Wednesday, September 12, 2012

Kerry County Council is continuing to monitor beaches where samples showed higher than acceptable levels of E.coli in the water during the summer.

Several of the countys 15 blue flag beaches had significantly elevated results after periods of exceptionally heavy rainfall in June and July, according to the council.

The beaches included Ballinskelligs, Derrynane, Inny Strand, Waterville, and White Strand, Caherciveen. However, the water had returned to good, or excellent, standard by Jul 5.

Other beaches where guidelines levels for water quality were exceeded because of E.coli contamination included Ballybunion, Banna and Ventry.

Similar contamination, exceeding mandatory EU levels, in important beaches in Co Cork received wide publicity last month, with information being provided by Cork County Council to the public, through the media.

Media statements were not issued by Kerry County Council, but information about some affected beaches and the results of water tests in individual beaches were posted on its website.

Contacted by the Irish Examiner yesterday, a council spokesman said they had done everything they were obliged to do in relation to informing the public.

Notices were placed on beaches and, in two instances in Ballinskelligs Beach, in late August, red flags were put up and the HSE informed, he said. "Because of the bad weather, there were very few people on the beaches, in any case, and the situation improved again in a few days."

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Kerry’s beaches still being monitored after wet summer reveals ‘elevated’ E.coli results

Global Telecoms – Smart Cities and Artificial Intelligence

NEW YORK, Sept. 11, 2012 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

http://www.reportlinker.com/p0964228/Global-Telecoms---Smart-Cities-and-Artificial-Intelligence.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=Internet_Business

Societies to be based on smart technologyBuddeComm's annual publication Global Telecoms Smart Societies and Artificial Intelligence, provides the key global trends and insights for these important and interesting sectors which will form the communities of the future.

In our complex societies, developments do not take place in isolation; they need to be looked at within a broader context and policies, strategies and activities need to be comprehensively linked. This is perhaps best described under the title 'smart city' or 'smart community'.

Making infrastructure smart basically means adding intelligence to the networks through sensors, devices, M2M, etc that generate reliable data that can be processed in real time to provide information to all those involved in making decisions about their energy use, transport movement, weather conditions, financial status, healthcare monitoring etc.

By combining these databases in a trans-sector way linking energy to traffic to healthcare, to weather, to economics we will be able to move from the current silo-based structure to a true trans-sector structure.In the context of the global crisis, we must now look at every opportunity to build smarter communities. The next stage of human evolution is going to depend on merging humans and machines, something that is becoming increasingly possible through artificial intelligence (AI).

Smart communities should incorporate cross-sector public safety, carbon neutral, state of the art communications networks, linked to a new generation of social services provided by government, such as e-government, e-health and e-education. Smart Transport systems are also integral to a smart society.

Smart Transport, better known as Intelligent Transport Systems (ITS), increase the safety and efficiency of transport networks from public bus, tram and train transport, to rail and road freight transport, and private and commercial road transport. ITS systems include the software and hardware for new electronic vehicle-to-vehicle and vehicle-to-infrastructure communication/information systems.

In 2012 there are now a number of countries around the world whose governments are actively investigating the social and economic benefits that can be achieved through the deployment of a mainly fibre-based broadband telecoms infrastructure.

The United Nations has also earmarked broadband as critical infrastructure in its Millennium Development Goals. ICT will not solve the problem of world hunger, but it cannot be solved without ICT, and this equally applies to all the other challenges.

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Global Telecoms - Smart Cities and Artificial Intelligence

LMI Aerospace expands its Savannah operation

LMI Aerospace, a leading supplier of structural components, assemblies and kits to the aerospace industry, is expanding its Savannah facility, which provides kits and assemblies to both Gulfstream Aerospace and Aviation Partners Boeing, general manager Phil Lajeunesse told the board and advisory council of the Savannah Economic Development Authority Tuesday."We started in 2003 with Gulfstream ...

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LMI Aerospace expands its Savannah operation

‘Bubble babies’ immune systems restored

LOS ANGELES UCLA stem cell researchers have found that a gene therapy regimen can safely restore immune systems to children with so-called "bubble boy" disease, a life-threatening condition that if left untreated can be fatal within one to two years.

In the 11-year study, researchers were able to test two therapy regimens for 10 children with ADA-deficient severe combined immunodeficiency (SCID), which has come to be known as "bubble boy" disease because some of its victims have been forced to live in sterile environments.

During that time, the researchers refined their approach to include a light dose of chemotherapy to help remove many of the blood stem cells in the bone marrow that were not creating the enzyme adenosine deaminase (ADA), which is critical for the production and survival of healthy white blood cells, said study senior Dr. Donald Kohn, a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.

The refined gene therapy and chemotherapy regimen proved superior to the other method tested in the study, restoring immune function to three of the six children who received it, said Kohn, who is also a professor of pediatrics and of microbiology, immunology and molecular genetics in UCLA Life Sciences Division. An even further-refined regimen using a different type of virus delivery system will be studied in the next phase of the study, which already has enrolled eight of the 10 patients needed.

The study appears today (Sept. 11) in the advance online issue of the peer-reviewed journal Blood.

"We were very happy that in the human trials we were able to see a benefit in the patients after we modified the protocol," Kohn said. "Doctors treating ADA-deficient SCID have had too few options for too long, and we hope this will provide them with an efficient and effective treatment for this devastating disease."

Children born with SCID, an inherited immunodeficiency, are generally diagnosed at about 6 months old. They are extremely vulnerable to infectious diseases and don't grow well. Chronic diarrhea, ear infections, recurrent pneumonia and profuse oral candidiasis commonly occur in these children. SCID occurs in about one of every 100,000 births.

Currently, the only treatment for ADA-deficient SCID calls for injecting patients twice a week with the necessary enzyme, Kohn said, a lifelong process that is very expensive and often doesn't return the immune system to optimal levels. These patients also can undergo bone marrow transplants from matched siblings, but matches can be very rare.

About 15 percent of all SCID patients are ADA-deficient. Kohn and his team used a virus delivery system that he had developed in his lab in the 1990s to restore the gene that produces the missing enzyme necessary for a healthy immune system. To date, about 40 children with SCID have received gene therapy in clinical trials around the world, Kohn said.

Two slightly different viral vectors were tested in the study, each modified to deliver healthy ADA genes into the bone marrow cells of the patients so the needed enzyme could be produced and make up for the cells that don't have the gene. Four of the 10 patients in the study remained on their enzyme replacement therapy during the gene therapy study. There were no side effects, but their immune systems were not sufficiently restored, Kohn said.

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'Bubble babies' immune systems restored

UCLA stem cell researchers use gene therapy to restore immune systems in ‘bubble babies’

Public release date: 11-Sep-2012 [ | E-mail | Share ]

Contact: Kim Irwin kirwin@mednet.ucla.edu 310-435-9457 University of California - Los Angeles Health Sciences

UCLA stem cell researchers have found that a gene therapy regimen can safely restore immune systems to children with so-called "Bubble Boy" disease, a life threatening condition that if left untreated can be fatal within one to two years.

In the 11-year study, researchers were able to test two therapy regimens for 10 children with ADA-deficient severe combined immunodeficiency (SCID). During the study, they refined their approach to include a light dose of chemotherapy to help remove many of the blood stem cells in the bone marrow that are not creating an enzyme called adenosine deaminase (ADA), which is critical for the production and survival of healthy white blood cells, said study senior Dr. Donald Kohn, a professor of pediatrics and of microbiology, immunology, and molecular genetics in Life Sciences and a member of the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA.

The refined gene therapy and chemotherapy regimen proved superior to the other method tested in the study, restoring immune function to three of the six children who received it, Kohn said. Going forward, an even further refined regimen using a different type of virus delivery system will be studied in the next phase of the study, which already has enrolled eight of the 10 patients needed.

The study appears Aug. 30 in the advance online issue of the peer-reviewed journal Blood.

"We were very happy that in the human trials we were able to see a benefit in the patients after we modified the protocol," Kohn said. "Doctors treating ADA-deficient SCID have had too few options for too long, and we hope this will provide them with an efficient and effective treatment for this devastating disease."

Children born with SCID, an inherited immunodeficiency, are generally diagnosed at about six months. They are extremely vulnerable to infectious diseases and don't grow well. Chronic diarrhea, ear infections, recurrent pneumonia and profuse oral candidiasis commonly occur in these children. SCID cases occur in about 1 of 100,000 births

Currently, the only treatment for ADA-deficient SCID calls for injecting the patients twice a week with the necessary enzyme, Kohn said, a life-long process that is very expensive and often doesn't return the immune system to optimal levels. These patients also can undergo bone marrow transplants from matched siblings, but matches can be very rare.

About 15 percent of all SCID patients are ADA-deficient. Kohn and his team used a virus delivery system that he had developed in his lab in the 1990s to restore the gene that produces the missing enzyme necessary for a healthy immune system. To date, about 40 children with SCID have received gene therapy in clinical trials around the world, Kohn said.

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UCLA stem cell researchers use gene therapy to restore immune systems in 'bubble babies'

Enzymotec Presents Clinical Trials Strategy for Its Infant Nutrition Lipid Based Ingredients

KFAR BARUCH, Israel, September 11, 2012 /PRNewswire/ --

Enzymotec Ltd. reports today that clinical trials for its lipid-based ingredient line for infant nutrition yielded positive results. This plan is part of a comprehensive business development strategy to develop and market directly or through its affiliated companies a line of products mimicking the vital lipids found in mother's milk, such as triglyceride, phospholipids and long-chain polyunsaturated fatty acids (LCPUFA).

Enzymotec intends to publish four new scientific articles on its lipid-based ingredients for infant nutrition in peer-reviewed journals in the coming months. These large-scale clinical research trials were conducted on newborn term infants in several institutes worldwide. Clinical results already have been presented at leading professional conferences.

One of the studies recently completed was a controlled clinical trial on InFat. InFat is a beta-palmitate ingredient that successfully mimics the fat composition and properties of human milk fat. It enables easy digestion and optimized uptake of calcium, fat recovery and energy. InFat is marketed by Advanced Lipids, a joint venture of AAK and Enzymotec. The study was the first testing the positive effect of a commercial term-infant formula containing beta-palmitate on Chinese infants' well-being. It was conducted by Professor Chen Yu-Ming, the principle investigator at Sun Yat-Sen University and in collaboration with Enzymotec.

"The clinical trials plan represents Enzymotec's ongoing commitment to explore the special characteristics of human milk and demonstrate its lipid-based ingredients' health benefits on various infant populations," says Yael Lifshitz, PhD, Director of R&D, of Enzymotec Infant Nutrition. "We developed this innovative ingredient and educated the premium infant formula market over the last several years. Enzymotec invested 10% of its revenue in research and development-a percentage considered among the highest in the industry."

About Enzymotec

Enzymotec is a research-based biotech company that develops, manufactures and markets innovative lipid-based, bio-functional ingredients and final products. Enzymotec delivers innovative solutions under three divisions. The Enzymotec Infant Nutrition division develops lipid compositions that mimic human milk fat to facilitate healthy infant development.

About Advanced Lipids AB

Advanced Lipids is a joint venture between AAK and Enzymotec for the sales and marketing of InFat. Advanced Lipids offers InFat as a concentrate form or as any tailored oil blend enriched with beta-palmitate (high sn2). Advanced Lipids produces InFat at AAK's site in Karlshamn, Sweden, based on the enzymatic technology developed by Enzymotec.

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Enzymotec Presents Clinical Trials Strategy for Its Infant Nutrition Lipid Based Ingredients