Monthly Archives: February 2014

Down's syndrome discovery dispute resurfaces in France

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An extra copy of chromosome 21 causes Down's syndrome but there is a dispute over who discovered it.

A disagreement over the discovery of the cause of Downs syndrome has resurfaced in France more than 50 years after the findings were published.

The dispute erupted again at the French Federation of Human Genetics' (FFGH) seventh biennial congress on human and medical genetics in Bordeaux at the end of last month.

Paediatric cardiologist Marthe Gautier, who was involved in the experiments that led to the identification of the extra copy of chromosome 21 the cause of the syndrome was due to relate her role in the discovery when two bailiffs arrived with a court authorization to record the session. The FFGH then decided at the last minute to cancel Gautier's presentation.

The bailiffs were representing the Paris-based Jrme Lejeune Foundation, which finances a large proportion of current Down's syndrome research in France. The foundation does not deny Gautiers contribution to the work leading to the discovery, but it credits the late Lejeune for the discovery itself.

Lejeune, a geneticist, was first author of the key paper reporting1 the finding, published by the French Academy of Sciences in January 1959. Gautier was listed as second author, and Raymond Turpin, a paediatric geneticist and Gautiers and Lejeunes boss at the Trousseau Hospital in Paris, was listed as third author.

The FFGH says that it wanted to honour Gautiers role in the discovery by giving her the floor and awarding her the federation's grand prize. Without questioning Jrme Lejeunes very important contribution to French genetics through the article on trisomy 21 and other work, we simply wanted to make a gesture in recognition of the determinant character of Marthe Gautiers contribution, the federation said in a statement.

But when the bailiffs walked in, we realized the recording might be used in a court case, FFGH treasurer and former president Dominique Bonneau told Nature. Not only do we not have the funds to fight a libel suit, but we felt it was inappropriate to hold the presentation under such strong legal pressure. Gautier received her prize discreetly and nine eminent geneticists signed a statement endorsing the decision to cancel the presentation.

Jean-Marie Le Mn, president of the Jrme Lejeune Foundation, says that the bailiffs were sent because the foundation wanted an official recording of the talk so that there could be no dispute over what was said. We needed to know what was said in case Jrme Lejeunes memory was smeared, he says.

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Down's syndrome discovery dispute resurfaces in France

Health care tweak: Big companies get wiggle room

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WASHINGTON (AP) Big retail stores, hotels, restaurants and other companies with lots of low-wage and part-time workers are among the main beneficiaries of the Obama administration's latest tweak to health care rules.

Companies with 100 or more workers will be able to avoid the biggest of two potential employer penalties in the Affordable Care Act by offering coverage to 70 percent of their full-timers.

That target is considerably easier to hit than the administration's previous requirement of 95 percent, but the wiggle room is only good for next year.

"It will be very helpful to employers," said Bill O'Malley, a tax expert with McGladrey, a consulting firm focused on medium-size businesses. "This gives them a bit of a transition period to begin expanding coverage on a gradual basis. There would be some cost savings to employers who otherwise were nowhere near meeting the standard for 2015."

It means that big companies, not only medium-sized firms, can benefit from the new employer coverage rules that the Treasury Department announced Monday. Under those rules, companies with 50 to 99 workers were given an extra year, until 2016, to comply with the health care law's requirement to offer coverage.

"I think it's pretty significant because the vast majority of the workforce is in large firms," said Larry Levitt, a health insurance expert with the nonpartisan Kaiser Family Foundation. "It affects a much bigger swath of the economy."

President Barack Obama's health care law requires companies with 50 or more employees working 30 or more hours a week to offer them suitable coverage or pay fines.

The so-called employer mandate was written into the law as a guardrail to discourage employers from shifting workers into taxpayer-subsidized coverage. Small businesses with fewer than 50 workers are exempt. And more than 90 percent of the larger firms already offer health care.

But even if it directly impacts a relatively small share of companies, the mandate still represents a major new government requirement on businesses. At a time when the economy remains weak, implementation has been fraught with political overtones. The requirement was originally supposed to take effect in 2014, but last summer the White House delayed it for a year. Then came this week's additional delay for medium-size companies.

Treasury officials say the lower coverage standard for bigger companies should help employers struggling with the health care law's definition of a full-time worker as someone who averages 30 hours a week. Many firms have traditionally set a 35-hour week as the threshold for offering health care benefits.

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Health care tweak: Big companies get wiggle room

Religion shouldnt dictate health care; dont impose beliefs on others

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Religion shouldnt dictate health care

Kathleen Parker, like many religious people, seems to believe that religious liberty means the freedom of those who are religious to impose their beliefs on everyone else with whom they interact, especially those people over whom they have some control, such as employees and also customers [Obama, practice what you preach, Opinion, Feb. 9].

This interpretation of religious liberty fails to acknowledge that religion should be private and every person should have the right to her or his own religious beliefs and practices. I believe that any state or country that imposes, legalizes or allows the imposition of any religious belief of one person onto another is taking away the religious liberty of the other person.

With that reasoning, when employers are allowed to not provide contraceptive health coverage because of their own religious beliefs, they are taking away their employees religious freedom. To borrow an observation by Jon Stewart, religious employers are already providing the means to obtain contraception it is called a paycheck. Why do so few people talk about this other side of religious liberty?

Margaret Garber, Seattle

Dont impose beliefs on others

Kathleen Parker seems to intentionally ignore that President Obama does practice what he preaches in regard to religious freedom. She just doesnt want to acknowledge what he is actually preaching.

By requiring that employers provide contraception as part of preventive insurance coverage, the president is relying on the First Amendment clause against the establishment of religion in his position that church-related groups or private employers cannot utilize the government as leverage to force their particular religious beliefs on their employees.

Would Parker be as sanguine if an Orthodox Jewish employer refused to hire any males who werent circumcised into the Covenant of Abraham? Or if a Muslim charity required all employees not to drink or eat pork? Or if a fundamentalist Christian hired only those attesting to a belief in creationism? An employers freedom of religion does not include curtailing that same freedom for their employees.

Philip L. Bereano, professor emeritus, University of Washington

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Religion shouldnt dictate health care; dont impose beliefs on others

Genetic Subtypes of Bladder Cancer Reflect Breast Cancer Biology

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Newswise A comprehensive genetic analysis of invasive bladder cancer tumors has found that the disease shares genetic similarities with two forms of breast cancer, according to researchers at the University of North Carolina Lineberger Cancer Center. Bladder cancer, which is the fourth most common malignancy in men and ninth most common in women in the United States, claimed more than 15,000 patients last year.

The analysis of 262 bladder cancer tumors, published online by the Proceedings of the National Academy of Sciences, reveals that the invasive form of the disease can be classified into two distinct genetic subtypes basal-like and luminal which were shown to be highly similar to the basal and luminal subtypes of breast cancer first described by Charles Perou, PhD, May Goldman Shaw Distinguished Professor of Molecular Oncology at UNC Lineberger. A greater understanding of the genetic basis of cancers such as breast cancer has led to the development of new therapies and diagnostic aids.

It will be particularly interesting to see whether the bladder subtypes, like the breast subtypes, are useful in stratification for therapy, said lead author William Kim, MD, associate professor with the UNC School of Medicine.

The mapping of the genetic signaling pathways of the breast cancer subtypes has led to development of drugs and diagnostic aids that aid physicians in determining the best course of therapy for patients with that disease. As the identified bladder cancer subtypes share many of the same genetic signaling pathways of breast cancer, researchers hope that the identification of the genetic subtypes can lead to similar advances.

Currently there are no approved targeted therapies for bladder cancer. Our hope is that the identification of these subtypes will aid in the discovery of targetable pathways that will advance bladder cancer treatment, said lead author Jeffrey Damrauer, graduate student in the Curriculum of Genetics and Molecular Biology.

The study also revealed a possible answer to why women diagnosed with bladder cancer have overall poorer outcomes compared to males. Analysis from female patients showed a significantly higher incidence of the deadlier, basal-like tumors, but researchers said that more research is needed before a definite link between the subtype and survival can be confirmed.

Dr. Kims lab has developed a gene map, BASE47, that proved successful as a prognostic aid when applied to the tumor samples in the study. The PAM50 genetic test, a similar genetic map developed in the Perou lab, was recently approved as a clinical diagnostic tool by the FDA.

Additional LCCC members contributing to this work are Katherine Hoadley, PhD; David Chism, MD; Cheng Fan; Christopher Tiganelli, MD; Sara Wobker, MD; Jen Jen Yeh, MD; Matthew Milowsky, MD; and Joel Parker, PhD. This work was supported by National Institutes of Health Grant R01 CA142794 and Integrative Vascular Biology Training Grant T32-HL069768. Dr. Kim is a Damon Runyon Merck Clinical Investigator. Dr. Kim and Damrauer are inventors on the patent for the BASE47.

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Genetic Subtypes of Bladder Cancer Reflect Breast Cancer Biology

Penn Medicine and CHOP Study: New Genetic Analysis Confirms Connection Between Cholesterol and Heart Disease

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PHILADELPHIA New research is adding to a growing body of evidence showing the effects that genetics, cholesterol and other lipids in the blood have on coronary heart disease (CHD). Previous research has shown elevated levels of low-density lipoprotein cholesterol (LDLc, commonly known as bad cholesterol) are known to cause heart disease, but the effects of other lipids such as high-density lipoprotein cholesterol (HDLc, or good cholesterol) and triglycerides (TG) have been less clear. In a new study, published online in the European Heart Journal, an international team led by researchers at the Perelman School of Medicine at the University of Pennsylvania and the Childrens Hospital of Philadelphia, used a novel genetics approach integrated with cardiovascular outcomes and lipid data taken fromblood samples from study participants to target specific lipids in the blood. The approach allowed the team to rule out other behavioral or environmental factors that may contribute to heart disease. The results are lending support to existing evidence showing that levels of TG are likely associated with risk of heart disease, while elevated levels of HDLc alone do not provide protection against CHD.

These results contribute to our current understanding of which blood lipids cause heart disease and which ones dont, said Michael Holmes, MD, PhD, research assistant professor of Surgery in the division of Transplant at Penn Medicine. Knowing that LDLc and TG contribute to an increased CHD risk allows health care providers to better offer individualized treatment plans with drugs that specifically target those lipids.

Results of the new study were gathered using a recently developed tool called Mendelian randomization (MR), which identifies genes responsible for particular diseases and analyzes genetic variations, while ruling out other behavioral or environmental variables that can be difficult to adjust for in study design. Using genetic risk scores, researchers analyzed genetic data from 62,199 participants in 12 previous studies. More than 12,000 of the participants were found to have experienced an event related to coronary heart disease (CHD).

After analyzing the genetic data, the results of the new study not only confirm that higher levels of LDLc are more likely to cause heart disease, but also show that high levels of TG also cause a higher risk of heart disease, a finding that has previously only been speculated upon. At the same time, there was little evidence to suggest that higher levels of HDLc provided protective effects against heart disease.

While the findings provide an important contribution to existing knowledge on blood lipid traits and risk of CHD, the authors suggest further studies using emerging technologies in the genomics arena are needed to precisely understand the role specific lipids and genetic predispositions play in a patients risk of CHD.

Its still not clear exactly what role HDLc plays in a patients risk of heart disease, or to what extent said senior author Brendan Keating, PhD, research assistant professor of Pediatrics and Surgery at Penn Medicine and lead clinical data analyst in the Center for Applied Genomics at The Childrens Hospital of Philadelphia. This requires further testing with new methods like Mendelian randomizing that can account for behavioral or environmental factors and focus specifically on the effects of those cholesterol subtypes.

Funding for the study came was provided by multiple sources, including the National Institutes of Health (grants N01-HC-65226, HL36310 and NHLBI33014), the UK Medical Research Council and the British Heart Foundation.

For more information on the study design and results, please see the full press release.

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Penn Medicine and CHOP Study: New Genetic Analysis Confirms Connection Between Cholesterol and Heart Disease

Mount Sinai Genetic Testing Laboratory Launches More Accurate Carrier Screening Test for Spinal Muscular Atrophy

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New York, NY (PRWEB) February 11, 2014

The Icahn School of Medicine at Mount Sinai today announced the launch of a more accurate carrier screening test for spinal muscular atrophy (SMA), one of the most common and severe autosomal recessive disorders. This new test will help prospective parents more effectively identify whether they carry the mutation that will affect their offspring. The test screens for genetic variation discovered by Mount Sinai researchers, which has been demonstrated to identify silent carriers of SMA in certain populations with higher accuracy and offers more accurate risk estimates than existing tests in all ethnic groups tested. Mount Sinai will be licensing the new test to other clinical laboratories to facilitate access to more accurate SMA carrier screening for as many people as possible.

SMA is an autosomal recessive disease that affects about 1 in 10,000 people and is one of the most deadly genetic diseases among infants and toddlers. It is transmitted by carrier parents who have no symptoms themselves; as many as 1 in 35 people may carry an SMN1 gene mutation, which is the gene that is defective in SMA. The disease kills nerve cells in the spinal cord, causing progressive degeneration among patients and diminishing capacity for walking, breathing, and swallowing. Severe forms of SMA are fatal, and there is currently no cure for the disease.

Scientists at the Mount Sinai Genetic Testing Laboratory recently used next-generation DNA sequencing to discover a new SMN1 genetic pattern that more accurately predicts the risk of having children with this disease. Current SMA carrier screening tests may result in false negative results due to their inability to detect silent carriers with two copies of the SMN1 gene on one chromosome and no copies on the other. The Mount Sinai Genetic Testing Laboratorys patent-pending enhanced SMA test identifies a novel haplotype that successfully distinguishes those duplicated genes. This work, which was conducted by Mount Sinai scientists and published in Genetics in Medicine in June 2013, significantly improves detection rates in the Ashkenazi Jewish population and improves risk estimates after a negative carrier screen for SMA in all ethnic groups.

People who choose to undergo carrier screening for spinal muscular atrophy do so to ensure that their future children will not suffer from this debilitating disease. It is important to provide patients with the most accurate risk estimates possible, said Lisa Edelmann, PhD, Director of the Mount Sinai Genetic Testing Laboratory. Launching this enhanced test based on our recent scientific findings on SMN1 will provide more meaningful answers to these prospective parents, and it can also provide new information to people who have previously been screened with existing SMA carrier tests.

The new test will be performed by the Genetic Testing Laboratory for all patients undergoing carrier screening for SMA. In addition, Mount Sinai will actively license the test to as many third-party clinical laboratories as possible.

This enhanced SMA carrier screening test shows the tremendous value in Mount Sinais approach to translational research, said Robert Desnick, MD, PhD, Dean for Genetics and Genomic Medicine, Professor and Chairman Emeritus of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. What began as a basic research project to identify founder alleles for Ashkenazi Jewish SMA carriers has resulted in a test that outperforms existing screening methods and offers real clinical benefit to the hundreds of thousands of people who will be screened by Mount Sinai or any of our licensees around the world.

About the Mount Sinai Health System The Mount Sinai Health System is an integrated health system committed to providing distinguished care, conducting transformative research, and advancing biomedical education. Structured around seven member hospital campuses and a single medical school, the Health System has an extensive ambulatory network and a range of inpatient and outpatient servicesfrom community-based facilities to tertiary and quaternary care.

The System includes approximately 6,600 primary and specialty care physicians, 12-minority-owned free-standing ambulatory surgery centers, over 45 ambulatory practices throughout the five boroughs of New York City, Westchester, and Long Island, as well as 31 affiliated community health centers. Physicians are affiliated with the Icahn School of Medicine at Mount Sinai, which is ranked among the top 20 medical schools both in National Institutes of Health funding and by U.S. News & World Report.

For more information, visit http://www.mountsinai.org, or find Mount Sinai on Facebook, Twitter and YouTube.

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Mount Sinai Genetic Testing Laboratory Launches More Accurate Carrier Screening Test for Spinal Muscular Atrophy

Marsden Medal for Barry Scott

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From protecting New Zealand from the mad cow disease to guiding legislation around genetic engineering, Professor Barry Scott has been at the forefront of some of the most important scientific discussions over the past 30 years.

Now his lifes work has been recognised with the New Zealands Association of Scientists top honour, the Marsden Medal.

"Sometimes I think scientists are maniacs with the hours we work, so its nice to be recognised," Professor Scott says. "Im really delighted."

His work has taken him far from the laboratory. He has sat on world-leading boards, spoken at international conferences and helped guide government policy-makers dealing with international dilemmas.

In 1996, he was a member of a committee that advised the New Zealand Government on how to protect agriculture and human health after the outbreak of mad cow disease in Britain. As part of an expert panel, he looked at the implications for New Zealand, its agricultural sector and New Zealanders living in Britain at the time.

As a founding member of Environmental Risk Management Authority, Professor Scott was also been heavily involved in shaping New Zealands policy and decision-making around the introduction of genetically-modified organisms in the 1990s. He was regularly called upon to front public debates on the issue and to help educate people about the underlying science.

Much his work has helped the advancement of New Zealands agricultural sector, including his world-leading research into how an endophyte fungus protects ryegrass from drought, disease and insects.

He is particularly proud of the successes of students he taught and supervised, including more than 20 PhD students now employed in major organisations throughout the world.

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Marsden Medal for Barry Scott

Futurist Jack Uldrich to Deliver Two Presentations at the Million Dollar Round Table Experience in Kuala Lampur …

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Los Angeles, CA (PRWEB) February 12, 2014

The 2014 Million Dollar Round Table (MDRT) Experience being held in Kuala Lumpur, Malaysia will feature futurist Jack Uldrich as a guest speaker on February 13th and 14th. (The MDRT Experience offers one-of-a-kind information, as well as opportunities to share innovative ideas and exclusive strategies with a diverse group of the world's leading life insurance and financial services professionals from more than 450 companies in 74 countries.)

In order to enhance their mission of being "a valued, member-driven, international network of leading insurance and investment financial services professionals/advisors who serve their clients by exemplary performance and the highest standards of ethics, knowledge, service and productivity," MDRT has chosen business trends expert Jack Uldrich as a double-heading keynote speaker. Uldrich will namely be tackling the issue of how those in the life insurance and financial services industries can begin future-proofing their businesses. Other notable speakers at the event include Bill Cates, Duncan McPherson, Colleen Francis and Eric Feng.

Uldrichs particular focus on the notion of "future-proofing" will serve as a diving board for MDRT members who will be swimming amidst a sea of technological changes in the coming years. The goal of Uldrichs sessions is to deliver cutting-edge ideas, technologically savvy information and invigorating new concepts for the 6,500 members who attend his talks.

Throughout his presentations Uldrich will cover various aspects of his popular and Bellwether Award-winning new book, "Foresight 2020: A Futurist Explores the Trends Transforming Tomorrow," and draw on his work in the field of change management. Uldrich will also draw upon ideas from his 2011 best-seller "Higher Unlearning: 39 Post Requisite Lessons for Achieving a Successful Future."

Another goal of Uldrichs, while at MDRT, is to explain how business leaders must let go andunlearnmany of their assumptions about their fields of insurance and finance, their current business models and customers, in order to grasp the full potential within their industries in the years ahead. Additionally, Uldrich will highlight why these trends demand unlearning and discuss how participants need to embrace the concept of future-proofing in order to achieve future success. Uldrich will conclude his presentations in Malaysia by reviewing specific habits, customs, beliefs and ideas that MRDT members and leaders canand must adoptin order to fully future-proof their organizations, and thrive.

An overview of some of Uldrichs ideas can be found in this YouTube clip of his presentation, "Why Future Trends Demand Unlearning", which aired on WFYI in Indianapolis. And a synopsis of some of Uldrichs written work on information technologies can be found in this article, 10 Future Mobile Trends for CIOs to Consider Today.

In the past year, Uldrich has addressed hundreds of business and trade groups from around the world, including delivering customized keynote presentations at ten McGladrey Emerging Technology Summits across the United States, Case IH, Emerson, the Womens Food Forum, PepsiCo, United Healthcare, Boston Scientific, Southern Company, Cisco, IBM, WiPro, Parsons Brinckerhoff, and various private financial firms.

Parties interested in learning more about Jack Uldrich, his books, his daily blog or his speaking availability are encouraged to contact Catherine Glynn.

Jack Uldrich is a renowned global futurist, technology forecaster, best-selling author, editor of the quarterly newsletter, The Exponential Executive, and host of the award-winning website, http://www.jumpthecurve.net. He is currently represented by a number of professional speakers' bureaus, including Leading Authorities, Convention Connection, Gold Star Speakers Bureau and Executive Speakers Bureau.

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PH drops anew in press freedom rankings

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by Angela Casauay Posted on 02/12/2014 5:13 PM |Updated 02/12/2014 8:32 PM

AT A GLANCE. Reporters Without Borders ranks the state of press freedom across the world. Image by Reporters Without Borders

MANILA, Philippines For the 2nd year in a row and against the backdrop of unsolved media killings and the President's refusal to endorse the Freedom of Information bill, the Philippines dropped in press freedom rankings across the world.

Out of 180 countries surveyed by Paris-based organization Reporters Without Borders or Reporters Sans Frontieres (RSF), the Philippines ranked 149th in the 2014 World Press Freedom Index. It dropped even further from 147th in 2013 and 140th in 2012.

The results of the survey come two months after the killing of 3 media practitioners within just two weeks. (READ: Gov't probes media killings)

Presidential Communications Operations Office Secretary Herminio Coloma Jr said the government "acknowledges" the Philippines' "slight decline" in the rankings.

Coloma told reporters: "We are committed to pursue and prosecute assailants of slain journalists so that we may obtain justice for those who were killed in the practice of their profession. We will continue to ensure that there are no prior restraints to the exercise of press freedom. This is in keeping with the spirit of EDSA People Power as we commemorate this month the 28th anniversary of the struggle that ensured the triumph of democracy over dictatorship and martial rule."

Factors

In this year's press freedom index, armed conflicts and abusive surveillance practices were some of the major factors that contributed to the repression of press freedom.

Even countries known for being democratic suffered drops in rankings. The United States (46th) fell 13 places due its handling of the trial and conviction of Private Bradley Manning and the pursuit of NSA analyst Edward Snowden.

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PH drops anew in press freedom rankings

Sliding press freedom: Best democracy in the world?

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Malaysia hit an historic low in the World Press Freedom Index ranking 147 out of 180 countries in the latest index produced by Reporters Without Borders.

PETALING JAYA: DAP supremo Lim Kit Siang made a snide remark against Prime Minister Najib Tun Razaks best democracy in the world claim after Malaysia was ranked 147 in the World Press Freedom Index, out of a total of 180 countries.

Shame of shame! This is the worst setback to Prime Minister Najib Tun Razaks best democracy in the world claim with Malaysias 2014 Press Freedom Index falling to the lowest point in nations history, even below that of Myanmar, Lim said in a statement today.

In 2013, Malaysia was ranked 145 out of 179 countries, falling 23 rungs from the previous year.

Malaysia already plunged last year to a historic low of No 145 ranking out of 179 countries in the 2013 World Press Freedom Index the worst since the start of the annual index by Reporters Without Border (RSF) in 2002.

In the latest 2014 World Press Freedom Index just released, Malaysia fell further to 147 out of 180 countries, two places behind Myanmar which climbed from 151st ranking to 145th position this year, he added.

There are nine other South East Asian countries ranked higher than Malaysia in this latest index.

Asean nations which outperformed Malaysia include Brunei (117), Thailand (130), Indonesia (132), Cambodia (144), Myanmar (145), Philippines (149), Singapore (150), Laos (171) and Vietnam (174), Lim added.

Lim also stressed that the Malaysian ranking has plummeted ever since Najib took over the administration.

Malaysia was in a respectable ranking of 92nd position in 2006 but under Najibs premiership, Malaysia is now locked into the worst position, in the bottom quarter of 180 countries assessed.

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Sliding press freedom: Best democracy in the world?

Freedom campers flocking to reserves

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A sign at Ocean Grove. Photo by ODT.

Community boards in the trial area were this month asked by the council how they thought the trial was going.

Saddle Hill Community Board chairman Scott Weatherall said since the reserve had become a trial site it had become very popular and the car park was at its maximum.

On one day he had seen a dozen campervans, eight stationwagons and two tents sited there.

The sign which said a maximum of five campervans were allowed at any one time had been used to dry washing, Mr Weatherall said, and tents were pitched in the reserve about four days a week.

Dunedin City Council parks manager Lisa Wheeler said the council would move tents on if there was a complaint or any concerns about the activity. However, board member Keith McFadyen said he fully supported campers who pitched a tent.

''I think it's fantastic.''

A family struggling financially should be allowed to camp and not have to pay the expensive fees at a camping ground, he said.

Councillor representative Cr Andrew Whiley disagreed.

''Freedom camping to me is in a vehicle - it's not tents.''

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Freedom campers flocking to reserves