In Controversial Health Care Bills, Some Agreement On Transparency

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Jean Rexford likes to point out that when she buys a car, she knows the cost, the quality and what to do if something goes wrong.

"There's nothing in health care, where I'm spending a lot more money, that I can do that," said Rexford, executive director of the Connecticut Center for Patient Safety.

In fact, Connecticut earned grades of "F" on two recent national scorecards that ranked states by the availability of information on health care price and quality for consumers.

This year, some top legislators have their sights set on addressing what they see as troubling changes in the state's health care landscape.

Senate President Pro Tem Martin M. Looney and Minority Leader Len Fasano teamed up to develop a series of proposals focused on the growth of large hospital systems, hospitals' acquisitions of physician practices and what the two lawmakers warn are the increased costs that result from both.

The proposals have been criticized by hospital officials and some others in health care, and are likely to undergo changes before a final version emerges.

But there's a less controversial thread in some of their proposals, one that has backing, at least in concept, from health care industry groups that don't always agree: increasing transparency about health care costs.

As Rexford noted, the basic tools most people are used to having when shopping are still largely unavailable or underused in health care. It can be difficult for patients to find out in advance what medical care will cost, or to compare price and quality options when picking a doctor or a facility to have a test done.

And yet, many people have insurance plans that increasingly require them to pay a larger share of their medical expenses.

"We cannot vest consumers with these responsibilities without being fully committed to providing them with all the information they need," the Connecticut Association of Health Plans said in written testimony on the proposals.

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In Controversial Health Care Bills, Some Agreement On Transparency

$9 million boost for Indigenous health care in Mackay

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INDIGENOUS health care in Mackay has received a $9 million boost.

The Liberal National Government announced funding into primary and preventable health care as part of its ongoing commitment to closing the gap.

Federal Member for Dawson George Christensen said the Aboriginal and Torres Strait Islander Community Health Service Mackay Ltd (ATSICHS Mackay) would have its funding extended for another three years to ensure it could deliver important health care and treatment in local communities.

"Although there has been improvement, we all know there is much work to be done with indigenous health outcomes," Mr Christensen said.

"This funding reaffirms the Abbott Government's commitment to closing the gap and to meeting the Government's priorities of assisting indigenous Australians in the areas of work, education and health.

"Overall this Government is investing $3.1billion over the next four financial years on indigenous health, an increase of over $500million when compared with the previous four years."

Mr Christensen said ATSI Community Health Service Mackay Ltd was one of 112 Aboriginal Community Controlled Organisations across Australia that would share in $1.4billion.

"The Aboriginal Community Controlled Health Organisations play a vital role in our efforts to close the gap in health outcomes through working with communities to improve access for indigenous families to primary or preventative health care," Mr Christensen said.

The funding will be delivered over three years - from 2015-16 to 2017-18 - to ACCHOs to continue delivering essential primary health care to Indigenous communities.

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$9 million boost for Indigenous health care in Mackay

American Health Worker With Ebola Heading to U.S. for Treatment

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TIME Health ebola American Health Worker With Ebola Heading to U.S. for Treatment National Institute of Health The National Institute of Health Clinical Center in Bethesda, Md. A health care worker with Ebola is headed to Maryland for treatment.

An American health care worker who was infected with Ebola while working in Sierra Leone is heading home to the U.S. for treatment.

The patient is being flown from Sierra Leone to a specialized treatment unit at the National Institutes of Health in Bethesda, Md. The staff is expecting to admit the patient on Friday.

MORE: TIME Person of the Year: Ebola Fighters

This is not the first patient with Ebola the NIH has treated during the recent outbreak. The staff also treated Nina Pham, one of the infected Dallas nurses who treated the first person diagnosed with Ebola in the United States, Thomas Eric Duncan. The NIH unit is one of only a handful in the U.S. designed to treat serious communicable diseases like Ebola. You can see a video of the unit here.

NIH is taking every precaution to ensure the safety of our patients, NIH staff, and the public, the NIH said in a statement.

Sierra Leone, where the American volunteer was working, is the West African country hardest hit by Ebola. Despite overall declines in Ebola cases in West Africa, the country had a small outbreak of the disease in February among a local community of fishermen, and has reported 11,677 cases to date. On Thursday, the World Health Organization released new numbers showing Ebola deaths have topped 10,000 and the number of cases in Sierra Leone, Liberia and Guinea has reached 24,350.

Though the region has experienced some good news, with Liberia releasing its last patient with confirmed Ebola in March, groups like Doctors Without Borders have warned the international community against getting complacent, telling TIME more coordinated contact tracing and surveillance is still needed.

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American Health Worker With Ebola Heading to U.S. for Treatment

Leading National Genetics Foundation to Present Adapted Bikes to Salt Lake City-area Children at Heartwarming "Day of …

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SALT LAKE CITY, March 12, 2015 /PRNewswire-USNewswire/ -- The ACMG Foundation for Genetic and Genomic Medicine and genetics professionals from around the world will be on hand to present bicycles to 19 local Salt Lake City-area children from the Shriners Hospitals for Children in Salt Lake City and Wasatch Adaptive Sports of Snowbird, Utah as part of the ACMG's 2015 Annual Clinical Genetics Meeting and Conference in the Salt Palace Convention Center, Exhibit Hall ABC, Friday, March 27 at 10:30 a.m.

The annual ACMG Foundation Day of Caring is sponsored by the ACMG Foundation for Genetic and Genomic Medicine, a prominent non-profit genetics foundation based in Bethesda, Maryland.

"It's supporters like the ACMG Foundation that help set Shriners Hospitals for Children apart, and for that we're truly grateful," said Dawn Wright, Public Relations Manager at Shriners Hospitals for Children, Salt Lake City said. "We go to great lengths to enrich our patients' lives beyond their medical care and equipment and encourage them to live life without limits."

"We would like to thank the ACMG Foundation and their supporters for providing bikes and helmets to children with special needs in our community. We strongly believe in the promotion of independence and well-being through recreation and are excited to see the dream of owning a bike become a reality for our families" said Peter Mandler, Executive Director of Wasatch Adaptive Sports, which is based out of Snowbird, Utah.

"The medical genetics community is dedicated to improving the lives of children and adults with genetic conditions," said Bruce R. Korf, MD, PhD, FACMG, President of the ACMG Foundation. "We are delighted that we can play a role in helping children with genetic conditions in the Salt Lake City area. What better way to demonstrate caring than by supporting children with a special surprise that helps them have some of the same experiences that their peers have."

The ACMG Foundation for Genetic and Genomic Medicine, whose theme is Better Health Through Genetics, supports education, research and a variety of other programs to translate genetic research into better health for all individuals.

The ACMG Foundation 2015 Day of Caring is supported by PerkinElmer, Shire, members of the American College of Medical Genetics and the ACMG Foundation for Genetic and Genomic Medicine.

The ACMG Foundation for Genetic and Genomic Medicine, a 501(c)(3) nonprofit organization, is a community of supporters and contributors who understand the importance of medical genetics in healthcare. Established in 1992, the ACMG Foundation for Genetic and Genomic Medicine supports the American College of Medical Genetics and Genomics; mission to "translate genes into health" by raising funds to attract the next generation of medical geneticists and genetic counselors, to sponsor important research, to promote information about medical genetics, and much more.

To learn more about the important mission and projects of the ACMG Foundation for Genetic and Genomic Medicine and how you too can support this great cause, please visit http://www.acmgfoundation.org or contact us at acmgf@acmgfoundation.org or 301/718-2014.

Media Alert Kathy Beal kbeal@acmg.net 301-238-4582

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Leading National Genetics Foundation to Present Adapted Bikes to Salt Lake City-area Children at Heartwarming "Day of ...

Case Western Reserve scientists find hidden meaning and 'speed limits' within genetic code

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Case Western Reserve scientists have discovered that speed matters when it comes to how messenger RNA (mRNA) deciphers critical information within the genetic code -- the complex chain of instructions critical to sustaining life. The investigators' findings, which appear in the March 12 journal Cell, give scientists critical new information in determining how best to engage cells to treat illness -- and, ultimately, keep them from emerging in the first place.

"Our discovery is that the genetic code is more complex than we knew," said senior researcher Jeff Coller, PhD, associate professor, Division of General Medical Sciences, and associate director, The Center for RNA Molecular Biology, Case Western Reserve University School of Medicine. "With this information, researchers can manipulate the genetic code to achieve more predictable outcomes in an exquisite fashion."

The genetic code is a system of instructions embedded within DNA. The code tells a cell how to generate proteins that control cellular functions. mRNA transmits the instructions from DNA to ribosomes. Ribosomes translate the information contained within the mRNA and produce the instructed protein. The genetic code comprises 61 words, called "codons," and a single codon, a sequence of three nucleotides, instructs the ribosome how to build proteins.

The code not only dictates what amino acids are incorporated into proteins, it also tells the cell how fast they should be incorporated. With this information, researchers can manipulate the genetic code to achieve predictable protein levels in an exquisite fashion."

The most significant breakthrough in the Case Western Reserve work is that all of the words, or codons, in the genetic code are deciphered at different rates; some are deciphered rapidly while others are deciphered slowly. The speed of how mRNA decodes its information is the sum of all the codons it contains. This imposed speed limit then ultimately affects the amount of protein produced. Sometimes faster is better to express a high level of protein. Sometimes slower is better to limit the amount protein. Importantly, codons are redundant -- many of these words mean the same thing.

Coller and colleagues found that each of the codons is recognized differently by a ribosome. Some codons are recognized faster than others, but these differences in speed are tiny. Over the entire span of an mRNA, however, each tiny difference in speed is powerfully additive.

"Many codons mean the same thing, but they influence decoding rate differently. Because of this, we can change an mRNA without changing its protein sequence and cause it to be highly expressed or poorly expressed and anywhere in between," he said. "We can literally dial up or down protein levels any way we want now that we know this information."

During their research, investigators measured the mRNA decay rate for every transcript within the cell. They were seeking answers for why different RNAs had different stabilities. With statistical analysis, investigators compared the half-lives of mRNAs to the codons used within these messages. A strong correlation emerged between codon identity and mRNA message stability. They ultimately linked these observations back to the process of mRNA translation.

"mRNA translation and mRNA decay are intimately connected. This can be very beneficial to scientists. If you would like a gene to be expressed really well, you simply change the protein sequence to be derived by all optimal codons. This will both stabilize the mRNA and cause it to be translated more efficiently," Coller said. "If you need an mRNA to express at a low level, you fill it with non-optimal codons. The mRNA will be poorly translated and thus unstable. Evolution has used codon optimization to shape the expression of the proteome. Genes of similar function use similar codons; therefore, they are expressed at similar levels."

His discovery has a variety of practical implications for medicine. From a bioengineering perspective, molecular biology techniques can be applied to manipulate the gene to contain ideal codons and obtain the gene expression pattern that is most beneficial to the application. From a human physiological standpoint, it's possible to learn the speed limit for each and every mRNA and then determine if this changes in specific pathologies such as cancer. Currently, it is unknown whether codons convey different speeds in disease states. A future direction for research will be to link codon speeds to specific illnesses. The potential is also there to develop drugs that can manipulate higher or lower gene expression by changing the decoding rate.

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Case Western Reserve scientists find hidden meaning and 'speed limits' within genetic code

Hidden meaning and 'speed limits' found within genetic code

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Case Western Reserve scientists have discovered that speed matters when it comes to how messenger RNA (mRNA) deciphers critical information within the genetic code -- the complex chain of instructions critical to sustaining life. The investigators' findings, which appear in the March 12 journal Cell, give scientists critical new information in determining how best to engage cells to treat illness -- and, ultimately, keep them from emerging in the first place.

"Our discovery is that the genetic code is more complex than we knew," said senior researcher Jeff Coller, PhD, associate professor, Division of General Medical Sciences, and associate director, The Center for RNA Molecular Biology, Case Western Reserve University School of Medicine. "With this information, researchers can manipulate the genetic code to achieve more predictable outcomes in an exquisite fashion."

The genetic code is a system of instructions embedded within DNA. The code tells a cell how to generate proteins that control cellular functions. mRNA transmits the instructions from DNA to ribosomes. Ribosomes translate the information contained within the mRNA and produce the instructed protein. The genetic code comprises 61 words, called "codons," and a single codon, a sequence of three nucleotides, instructs the ribosome how to build proteins.

The code not only dictates what amino acids are incorporated into proteins, it also tells the cell how fast they should be incorporated. With this information, researchers can manipulate the genetic code to achieve predictable protein levels in an exquisite fashion."

The most significant breakthrough in the Case Western Reserve work is that all of the words, or codons, in the genetic code are deciphered at different rates; some are deciphered rapidly while others are deciphered slowly. The speed of how mRNA decodes its information is the sum of all the codons it contains. This imposed speed limit then ultimately affects the amount of protein produced. Sometimes faster is better to express a high level of protein. Sometimes slower is better to limit the amount protein. Importantly, codons are redundant -- many of these words mean the same thing.

Coller and colleagues found that each of the codons is recognized differently by a ribosome. Some codons are recognized faster than others, but these differences in speed are tiny. Over the entire span of an mRNA, however, each tiny difference in speed is powerfully additive.

"Many codons mean the same thing, but they influence decoding rate differently. Because of this, we can change an mRNA without changing its protein sequence and cause it to be highly expressed or poorly expressed and anywhere in between," he said. "We can literally dial up or down protein levels any way we want now that we know this information."

During their research, investigators measured the mRNA decay rate for every transcript within the cell. They were seeking answers for why different RNAs had different stabilities. With statistical analysis, investigators compared the half-lives of mRNAs to the codons used within these messages. A strong correlation emerged between codon identity and mRNA message stability. They ultimately linked these observations back to the process of mRNA translation.

"mRNA translation and mRNA decay are intimately connected. This can be very beneficial to scientists. If you would like a gene to be expressed really well, you simply change the protein sequence to be derived by all optimal codons. This will both stabilize the mRNA and cause it to be translated more efficiently," Coller said. "If you need an mRNA to express at a low level, you fill it with non-optimal codons. The mRNA will be poorly translated and thus unstable. Evolution has used codon optimization to shape the expression of the proteome. Genes of similar function use similar codons; therefore, they are expressed at similar levels."

His discovery has a variety of practical implications for medicine. From a bioengineering perspective, molecular biology techniques can be applied to manipulate the gene to contain ideal codons and obtain the gene expression pattern that is most beneficial to the application. From a human physiological standpoint, it's possible to learn the speed limit for each and every mRNA and then determine if this changes in specific pathologies such as cancer. Currently, it is unknown whether codons convey different speeds in disease states. A future direction for research will be to link codon speeds to specific illnesses. The potential is also there to develop drugs that can manipulate higher or lower gene expression by changing the decoding rate.

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Hidden meaning and 'speed limits' found within genetic code

Case Western Reserve Scientists Discover Hidden Meaning and 'Speed Limits' within the Genetic Code

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Newswise Case Western Reserve scientists have discovered that speed matters when it comes to how messenger RNA (mRNA) deciphers critical information within the genetic code the complex chain of instructions critical to sustaining life. The investigators findings, which appear in the March 12 journal Cell, give scientists critical new information in determining how best to engage cells to treat illness and, ultimately, keep them from emerging in the first place.

Our discovery is that the genetic code is more complex than we knew, said senior researcher Jeff Coller, PhD, associate professor, Division of General Medical Sciences, and associate director, The Center for RNA Molecular Biology, Case Western Reserve University School of Medicine. With this information, researchers can manipulate the genetic code to achieve more predictable outcomes in an exquisite fashion.

The genetic code is a system of instructions embedded within DNA. The code tells a cell how to generate proteins that control cellular functions. mRNA transmits the instructions from DNA to ribosomes. Ribosomes translate the information contained within the mRNA and produce the instructed protein. The genetic code comprises 61 words, called codons, and a single codon, a sequence of three nucleotides, instructs the ribosome how to build proteins.

The code not only dictates what amino acids are incorporated into proteins, it also tells the cell how fast they should be incorporated. With this information, researchers can manipulate the genetic code to achieve predictable protein levels in an exquisite fashion.

The most significant breakthrough in the Case Western Reserve work is that all of the words, or codons, in the genetic code are deciphered at different rates; some are deciphered rapidly while others are deciphered slowly. The speed of how mRNA decodes its information is the sum of all the codons it contains. This imposed speed limit then ultimately affects the amount of protein produced. Sometimes faster is better to express a high level of protein. Sometimes slower is better to limit the amount protein. Importantly, codons are redundant many of these words mean the same thing.

Coller and colleagues found that each of the codons is recognized differently by a ribosome. Some codons are recognized faster than others, but these differences in speed are tiny. Over the entire span of an mRNA, however, each tiny difference in speed is powerfully additive.

Many codons mean the same thing, but they influence decoding rate differently. Because of this, we can change an mRNA without changing its protein sequence and cause it to be highly expressed or poorly expressed and anywhere in between, he said. We can literally dial up or down protein levels any way we want now that we know this information.

During their research, investigators measured the mRNA decay rate for every transcript within the cell. They were seeking answers for why different RNAs had different stabilities. With statistical analysis, investigators compared the half-lives of mRNAs to the codons used within these messages. A strong correlation emerged between codon identity and mRNA message stability. They ultimately linked these observations back to the process of mRNA translation.

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Case Western Reserve Scientists Discover Hidden Meaning and 'Speed Limits' within the Genetic Code

Can breastfeeding women have menopause-like symptoms?

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IMAGE:Breastfeeding Medicine, the official journal of the Academy of Breastfeeding Medicine, is an authoritative, peer-reviewed, multidisciplinary journal published 10 times per year in print and online. The Journal publishes original... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, March 12, 2015-- After giving birth, a woman's estrogen levels drop to lower than usual levels, and while they return to the normal range relatively quickly among women who are not breastfeeding, this hypoestrogenic state may continue in lactating women and cause menopause-like symptoms. The results of a new study comparing vaginal dryness, hot flashes, and mood changes in women who are or are not breastfeeding 3 and 6 weeks after giving birth are reported in Breastfeeding Medicine, the official journal of the Academy of Breastfeeding Medicine published by Mary Ann Liebert, Inc., publishers. The article is available free on the Breastfeeding Medicine website until April 12, 2015.

The article "Application of the Estrogen Threshold Hypothesis to the Physiologic Hypoestrogenemia of Lactation" provides evidence of the impact of breastfeeding on symptoms related to low estrogen levels during the postpartum period. Whereas lactating women showed no differences in the prevalence of hot flashes than non-breastfeeding women, they were significantly more likely to have vaginal dryness, report coauthors Sanjay Agarwal, MD, (University of California, San Diego School of Medicine), Julie Kim, MD (Cedars-Sinai Medical Center, Los Angeles, CA), Lisa Korst, MD, PhD (Childbirth Research Associates, North Hollywood, CA), and Claude Hughes, MD, PhD (Quintiles, Inc., Morrisville, NC).

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"The changes in vaginal lubrication secondary to low estrogen levels that can affect breastfeeding mothers may lead to discomfort on sexual intercourse," says Arthur I. Eidelman, MD, Editor-in-Chief of Breastfeeding Medicine. "Physicians should be aware of this problem, which may too often be minimized, and provide appropriate treatment, such as vaginal estrogen cream."

About the Journal

Breastfeeding Medicine, the official journal of the Academy of Breastfeeding Medicine, is an authoritative, peer-reviewed, multidisciplinary journal published 10 times per year in print and online. The Journal publishes original scientific papers, reviews, and case studies on a broad spectrum of topics in lactation medicine. It presents evidence-based research advances and explores the immediate and long-term outcomes of breastfeeding, including the epidemiologic, physiologic, and psychological benefits of breastfeeding. Tables of content and a sample issue may be viewed on the Breastfeeding Medicine website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Journal of Women's Health, Childhood Obesity, and Pediatric Allergy, Immunology, and Pulmonology. 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 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Can breastfeeding women have menopause-like symptoms?

New gene therapy for hemophilia shows potential as safe treatment

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A multi-year, ongoing study suggests that a new kind of gene therapy for hemophilia B could be safe and effective for human patients. Published in the journal Science Translational Medicine, the research showed that a reprogrammed retrovirus could successfully transfer new factor IX (clotting) genes into animals with hemophilia B to dramatically decrease spontaneous bleeding. Thus far, the new therapy has proven safe.

"The result was stunning," said Timothy Nichols, MD, director of the Francis Owen Blood Research Laboratory at the University of North Carolina School of Medicine and co-senior author of the paper. "Just a small amount of new factor IX necessary for proper clotting produced a major reduction in bleeding events. It was extraordinarily powerful."

The idea behind gene therapy is that doctors could give hemophilia patients a one-time dose of new clotting genes instead of a lifetime of multiple injections of recombinant factor IX that until very recently had to be given several times a week. A new FDA-approved hemophilia treatment lasts longer than a few days but patients still require injections at least once or twice a month indefinitely.

This new gene therapy approach, like other gene therapy approaches, would involve a single injection and could potentially save money while providing a long-term solution to a life-long condition. A major potential advantage of this new gene therapy approach is that it uses lentiviral vectors, to which most people do not have antibodies that would reject the vectors and make the therapy less effective.

In human clinical studies, approximately 40 percent of the potential participants screened for a different kind of viral vector -- called adeno-associated viral vectors -- have antibodies that preclude them from entering AAV trials for hemophilia gene therapy treatment. This means that more people could potentially benefit from the lentivirus gene therapy approach.

Hemophilia is a bleeding disorder in which people lack a clotting factor, which means they bleed much more easily than people without the disease. Often, people with hemophilia bleed spontaneously into joints, which can be extremely painful and crippling. Spontaneous bleeds into soft tissues are also common and can be fatal if not treated promptly. Hemophilia A affects about one in 5,000 male births. These patients do not produce enough factor VIII in the liver. This leads to an inability to clot. Hemophilia B affects about one in 35,000 births; these patients lack factor IX.

This new method was spearheaded by Luigi Naldini, PhD, director of the San Raffaele Telethon Institute for Gene Therapy and co-senior author on the Science Translational Medicine paper.

For this study, Naldini and Nichols developed a way to use a lentivirus, which is a large retrovirus, to deliver factor IX genes to the livers of three dogs that have naturally occurring hemophilia. The researchers removed the genes involved in viral replication. "Essentially, this molecular engineering rendered the virus inert," Nichols said. "It had the ability to get into the body but not cause disease." This process turned the virus into a vector -- simply a vehicle to carry genetic cargo.

Unlike some other viral vectors that have been used for gene therapy experiments, the lentiviral vector is so large that it can carry a lot of payload -- namely, the factor IX genes that people with hemophilia B lack. (This approach could also be used for hemophilia A where the FVIII gene is considerably larger.)

These viral vectors were then injected directly into the liver or intravenously. After more than three years, the three dogs in the study experienced zero or one serious bleeding event each year. Before the therapy, the dogs experienced an average of five spontaneous bleeding events that required clinical treatment. Importantly, the researchers detected no harmful effects.

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New gene therapy for hemophilia shows potential as safe treatment

Study bolsters 'turbocharged' protein as a promising tool in hemophilia gene therapy

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Using mutant protein, CHOP hematologist safely removes unwanted antibodies, reverses hemophilia in dog model of bleeding disease

Using gene therapy to produce a mutant human protein with unusually high blood-clotting power, scientists have successfully treated dogs with the bleeding disorder hemophilia, without triggering an unwanted immune response. In addition, the "turbocharged" clotting factor protein eliminated pre-existing antibodies that often weaken conventional treatments for people with hemophilia.

"Our findings may provide a new approach to gene therapy for hemophilia and perhaps other genetic diseases that have similar complications from inhibiting antibodies," said the study leader, Valder R. Arruda, M.D., Ph.D., a hematology researcher at The Children's Hospital of Philadelphia (CHOP).

Arruda and colleagues published their animal study results in the print edition of Blood on March 5.

Hemophilia is an inherited bleeding disorder that famously affected European royal families descended from Queen Victoria. Most commonly occurring in two types, hemophilia A and hemophilia B, the disease impairs the blood's ability to clot, sometimes fatally. When not fatal, severe hemophilia causes painful, often disabling internal bleeding and joint damage.

Doctors treat hemophilia with frequent intravenous infusions of blood clotting proteins called clotting factors, but these treatments are expensive and time-consuming. Moreover, some patients develop inhibiting antibodies that negate the effectiveness of the infusions.

For more than two decades, many research teams, including at CHOP, have investigated gene therapy strategies that deliver DNA sequences carrying genetic code to produce clotting factor in patients. However, this approach has been frustrated by the body's immune response against vectors--the non-disease-causing viruses used to carry the DNA. Those responses, which defeated initial benefits seen in experimental human gene therapy, were dose-dependent: higher amounts of vectors caused more powerful immune responses.

Arruda and colleagues therefore investigated gene therapy that used lower dosages of vector (adeno-associated viral-8 vector, or AAV-8 vector) to produce a more potent clotting factor--a variant protein called FIX-Padua.

Arruda was part of a scientific team in 2009 that discovered FIX-Padua in a young Italian man who had thrombosis, excessive clotting that can dangerously obstruct blood vessels. A mutation produced the mutant clotting factor, called FIX-Padua, named after the patient's city of residence. This was the first mutation in the factor IX gene found to cause thrombosis. All previously discovered FIX mutations lead to hemophilia, the opposite of thrombosis.

FIX-Padua is hyperfunctional--it clots blood 8 to 12 times more strongly than normal, wild-type factor IX. In the current study, the researchers thus needed to strike a balance--to relieve severe hemophilia in dogs, by using a dose strong enough to allow clotting, but not enough to cause thrombosis or stimulate immune reactions. "Our ultimate goal is to translate this approach to humans," said Arruda, "by adapting this variant protein found in one patient to benefit other patients with the opposite disease."

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Study bolsters 'turbocharged' protein as a promising tool in hemophilia gene therapy

Industry Body Calls for Gene-Editing Moratorium

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Gene-editing companies say research on altering the DNA of human reproductive cells is dangerous and unethical.

Officials of a biotechnology industry group have called for a voluntary moratorium on using new DNA-editing techniques to change the genetic characteristics of human embryos in laboratory research.

In an editorial published today by the journal Nature, Edward Lanphier, CEO of the biotechnology company Sangamo Biosciences, and four colleagues write that scientists should agree not to modify the DNA of human reproductive cells because it raises safety and ethical risks including the danger of unpredictable effects on future generations.

New gene-editing techniques, in particular one called CRISPR, have given scientists powerful and useful new ways to swap and change DNA letters inside of living cells for the first time (see Genome Surgery).

Recently, some scientific teams have started to study whether CRISPR would be able to correct disease genes in future generations of peoplefor instance, by repairing genes during in vitro fertilization, or in eggs or sperm. The idea of such germ line modification would be to install healthy versions of genes, which children would be born with.

The emergence of active research around germ-line editing, which is taking place in China, at Harvard University, and at a publicly traded biotechnology company called OvaScience, were described last week by MIT Technology Review (see Engineering the Perfect Baby).

But the idea of using editing technology to improve children is as controversial as it is medically powerful. In their editorial, Lanphier, whose coauthors include Fyodor Urnov, co-developer of a different gene-editing system, raise the concern that such techniques might be exploited for non-therapeutic modifications. That could mean, for instance, changing the physical traits of children.

The availability of technology to carry out genetic engineering in human germ-line cells is driving intense debate in scientific circles and may eventually become a legal issue in the United States and other countries.

The authors call for a cessation of basic research is unusual and likely to be opposed by scientists as an intrusion on the quest for scientific knowledge.

George Church, a professor at Harvard Medical School whose laboratory studies CRISPR and germ-line editing, says a voluntary moratorium would be weak compared with existing regulations that nearly all countries impose on the use of new medical technologies until they are proven safe and effective in animals or human [tests]. Church was referring to rules governing the birth of actual gene-edited children, not basic research.

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Industry Body Calls for Gene-Editing Moratorium