Stem Cell Therapy Treatment for Limb Girdle Muscular Dystrophy by Dr Alok Sharma, Mumbai, India.
Stem Cell Therapy Treatment for Limb Girdle Muscular Dystrophy by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy 1. Power and movements in the finger...

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Stem Cell Therapy Treatment for Polymyositis by Dr Alok Sharma, Mumbai, India.
Stem Cell Therapy Treatment for Polymyositis by Dr Alok Sharma, Mumbai, India. After Stem Cell Therapy 1) Patient had a fall on 31st December 2012 due to whi...

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Stem Cell Therapy Treatment for Inclusive Body Myopathy by Dr Alok Sharma, Mumbai, India. Part 2

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Black people with a certain genetic variant may face a doubled risk of late-developing Alzheimers disease, a study found.

The gene, dubbed ABCA7, is not as important for white patients, according to the study published today in the Journal of the American Medical Association. The DNAs involvement in processing cholesterol and lipids, though, is consistent with a higher prevalence in blacks of heart disease and strokes, the researchers wrote.

The study included almost 6,000 black people ages 60 or older who were mostly volunteers from 18 Alzheimers disease centers funded by the U.S. National Institutes of Health. The scope of the trial makes it unique because blacks are only 10 percent of the elderly population, said Richard Mayeux, the study author.

This is a big part of the population thats really understudied, said Mayeux, who is chairman of neurology at Columbia University Medical Center in New York. Most of the gene discoveries have been in white populations, and if the goal is to identify potential treatments, then to not look at an African American population is a big mistake.

More than 5 million Americans have Alzheimers, which is the most-common type of dementia, according to the Alzheimers Association. Global dementia cases are expected to double within 20 years to as many as 65.7 million people, the Geneva-based World Health Organization has said.

The research, funded by the National Institute on Aging, found that ABCA7 boosted the risk of Alzheimers about 1.8-fold in blacks compared with about 1.1-fold in those of European descent. About a third of those studied had been diagnosed with Alzheimers and two-thirds were cognitively normal, according to the study.

Late-onset Alzheimers is more common among blacks than in whites living in the same community. This finding may help explain why, Mayeux said in a telephone interview.

We found a gene that was just under the radar screen in most studies of whites, he said. Its a major player in this group.

To contact the reporter on this story: Elizabeth Lopatto in San Francisco at elopatto@bloomberg.net

To contact the editor responsible for this story: Reg Gale at rgale5@bloomberg.net

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Gene Doubles Risk of Late-Onset Alzheimer’s in Blacks

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Research rats showed a propensity toward genetic laziness. Can humans develop it too?

By LiveScience

New research might help explain why some people have trouble getting off the couch. Experiments on rats suggest there could be a genetic predisposition to laziness.

A group of scientists put rats in cages with running wheels a subtle suggestion for them to start exercising and recorded how much time each spent running during a six-day period. They then bred the top 26 runners with each other and paired up the 26 laziest rats. This selective breeding process was repeated through 10 generations, and researchers found that rats in the more active line were 10 times more likely to run than rats in the couch potato line.

To try to explain why, the researchers compared the two groups' levels of mitochondria, or cells' energy-making structures, in muscle cells (which can be boosted by exercise), physical characteristics and genetic profile.

"While we found minor differences in the body composition and levels of mitochondria in muscle cells of the rats, the most important thing we identified were the genetic differences between the two lines of rats," study researcher Michael Roberts, a post-doctoral fellow at the University of Missouri's College of Veterinary Medicine, said in a statement. "Out of more than 17,000 different genes in one part of the brain, we identified 36 genes that may play a role in predisposition to physical activity motivation."

Past research identified two genes in mice that, when turned off, turned the active rodents into couch potatoes.

In that study, detailed in 2011 in the journal Proceedings of the National Academies of Sciences, scientists turned off genes that enable the muscles to make energy from sugars. "Mice love to run," said researcher Gregory Steinberg of McMaster University at the time. "While the normal mice could run for miles, those without the genes in their muscle could only run the same distance as down the hall and back. It was remarkable." [Don't Sit Tight: 6 Ways to Make a Deadly Activity Healthier]

Roberts and his colleagues are now trying to zero in on which genes might play a role in the motivation to exercise. And if the research proves to be relevant to human biology, it could help identify causes for obesity, a growing problem, especially among children, in the United States, Roberts' colleague Frank Booth said.

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Do you have the lazy gene? Some rats do

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ABCA7, a minor gene variant in whites, is major player in African-Americans

Newswise NEW YORK African-Americans with a variant of the ABCA7 gene have almost double the risk of developing late-onset Alzheimers disease compared with African-Americans who lack the variant. The largest genome-wide search for Alzheimers genes in the African-American community, the study was undertaken by the Alzheimers Disease Genetics Consortium and led by neurologists from Columbia University Medical Center. It will be published in the April 10 issue of the Journal of the American Medical Association. The study was primarily funded by the National Institutes of Health (NIH).

Our findings strongly suggest that ABCA7 is a definitive genetic risk factor for Alzheimers disease among African-Americans, said study senior author, Richard Mayeux, MD, MS, professor and chair of Neurology at CUMC. Until now, data on the genetics of Alzheimers in this patient population have been extremely limited.

The ABCA7 gene is involved in the production of cholesterol and lipids, which suggests that lipid metabolism may be a more important pathway in Alzheimers disease in African-Americans than in whites. Because cholesterol and lipid imbalances (which eventually lead to vascular disease and heart attacks and strokes) are more common in African-Americans, treatments that reduce cholesterol and vascular disease may potentially be an effective way to reduce or delay Alzheimers in this population.

While we need to conduct research to determine whether reducing cholesterol will lower the chance of Alzheimers in African-Americans, maintaining healthy cholesterol levels always has the benefit of lowering ones risk of heart attack and stroke, said Dr. Mayeux.

The study involved nearly 6,000 African-American participants, most of whom are volunteers from 18 NIH-funded Alzheimers Disease Centers. The Centers and other researchers contributed samples to the Alzheimers Disease Genetics Consortium, an NIH-supported research program led by Gerard D. Schellenberg, PhD, at the University of Pennsylvania. Approximately 2,000 of the volunteers were diagnosed with probable Alzheimers disease and 4,000 were cognitively normal. The purpose of the study was to look for genetic variants among African-Americans, who are known to have a higher incidence of late-onset Alzheimers than whites living in the same community. Ninety percent of all cases of Alzheimers, which affect an estimated 5 million Americans aged 65 and older, are described as having the late-onset form of the disease.

ABCA7 is the first major gene implicated in late-onset Alzheimers among African Americans, and it has an effect on disease risk comparable to that of APOE-e4which has been known for two decades to be a major genetic risk factor in whites, said Christiane Reitz, MD, PhD, assistant professor of neurology, who conducted the studys genetic analyses as first author on the paper. Both genes raise the risk of Alzheimers in this population twofold. The extent of the role of APOE-e4 in African-Americans had been uncertain because of inconsistent results from previous, smaller studies.

Based on these results, we now know that both APOE-e4 and ABCA7 are major genetic risk factors for African-Americans, whereas for whites, only one of the twoAPOE-e4confers a similar degree of risk, said Dr. Mayeux, who is also co-director of the Taub Institute for Research on Alzheimers Disease and the Aging Brain and the Gertrude H. Sergievsky Center at CUMC. He is the Gertrude H. Sergievsky Professor of Neurology, Psychiatry and Epidemiology.

Several other genes that had recently been linked to Alzheimers in white populations were also confirmed in the current study to play a role in African-Americans. Because they cross ethnic groups, the likelihood increases that these genes are very important in the development of Alzheimers, said Dr. Reitz, who is a member of both the Sergievsky Center and the Taub Institute. And that gives us clues in our search for the cellular pathways associated with the disease.

These findings suggest that the genetic underpinnings of Alzheimers disease may vary among different populationsand so should not be treated homogeneously, said Dr. Reitz.

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Gene Linked to Nearly 2x Alzheimer's Risk in African-Americans

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African-Americans with a certain gene variant have nearly double the risk of developing late-onset Alzheimer's disease than those without it, a new study out Tuesday found.

But the gene doesn't seem to be affiliated with higher incidence of Alzheimer's among white populations, the scientists said in the report in the Journal of the American Medical Association.

"These findings suggest that the genetic underpinnings of Alzheimer's disease may vary among different populations -- and so should not be treated homogeneously," said first author Christiane Reitz of Columbia University Medical Center.

African-Americans have much higher rates of late-onset Alzheimer's -- by far the most common form of the disease -- than whites. But "until now, data on the genetics of Alzheimer's in this patient population have been extremely limited," said senior author Richard Mayeux, also of Columbia.

The new study analyzed genetic data from nearly 6,000 African-American participants, the largest genome-wide search for Alzheimer's genes among the population group.

The study helped scientists confirm that the ABCA7 gene variant is linked to a higher incidence of late-onset Alzheimer's among African Americans. The gene is involved in the production of cholesterol and lipids.

Imbalances in these two molecules can lead to vascular disease and strokes -- and, thanks to this new research, may be related to the development of dementia.

This suggests that treatments that fight high cholesterol and vascular disease may also prove effective at warding off Alzheimer's disease among African-Americans.

The research also confirmed that a second gene variant, long known to be a risk factor for Alzheimer's among whites, is also affiliated with higher risk among African-Americans.

"Both genes raise the risk of Alzheimer's in this population twofold," said Reitz, who noted that previous results from smaller studies had been inconsistent.

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New gene linked with double Alzheimer's risk for blacks

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Featured Article Academic Journal Main Category: Prostate / Prostate Cancer Also Included In: Cancer / Oncology;Men's Health;Genetics Article Date: 10 Apr 2013 - 3:00 PDT

Current ratings for: Prostate Cancer With Faulty BRCA2 Gene Spreads More Quickly

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Research has already established that men who inherit a faulty BRCA2 gene have a higher risk of developing prostate cancer, but this, the largest study of its kind, is the first to show that the faulty gene also means carriers are more likely to experience more rapid spread of the disease and poorer survival.

The study, reported this week in the Journal of Clinical Oncology, poses a potential challenge to health systems like the UK's NHS where carriers of the faulty gene are offered the same prostate cancer treatment options as non-carriers.

Senior author Ros Eeles, Professor of Oncogenetics at The Institute of Cancer Research (ICR) in the UK, says in a statement that the study clearly shows prostate cancers linked to inheritance of the faulty BRCA2 cancer gene are more deadly than other types.

"It must make sense to start offering affected men immediate surgery or radiotherapy, even for early-stage cases that would otherwise be classified as low-risk," says Eeles, who is also Honorary Consultant in Clinical Oncology at The Royal Marsden in London.

However, she also cautions that:

"We won't be able to tell for certain that earlier treatment can benefit men with inherited cancer genes until we've tested it in a clinical trial, but the hope is that our study will ultimately save lives by directing treatment at those who most need it."

Mutations in BRCA1 and BRCA2 genes were originally spotted in patients with breast cancer. We now know that these faulty genes not only raise the risk of developing breast cancer, but also of ovarian and prostate cancers.

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Prostate Cancer With Faulty BRCA2 Gene Spreads More Quickly

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The largest study to date looking for genetic causes of Alzheimer's in African Americans may offer new clues about why blacks in the United States are twice as likely as whites to develop the deadly, brain-wasting disease.

The findings, published in the Journal of the American Medical Association on Tuesday, show that mutations in two genes that play a role in whites also contribute to Alzheimer's risk in blacks. One of those, known as ABCA7, may double the risk in blacks who have the mutation versus those who don't.

Although many genes have been found to raise the risk of Alzheimer's, most studies have been conducted in largely white populations, and few studies have looked specifically at genes that drive Alzheimer's in blacks. Part of that is because very few African Americans take part in gene studies looking at Alzheimer's risk.

The latest findings will need to be confirmed by other research teams, and critics say the study is incomplete until that work is done.

To get enough participants for the newly published study, researchers combined genetic information from 18 different Alzheimer's Disease Centers funded by the U.S. National Institutes of Health. They gathered information on 6,000 African Americans, 2,000 of whom had late-onset Alzheimer's disease, the most common form that occurs in older people.

The team then looked for genes that were most strongly associated with Alzheimer's. The strongest link was with a variant of a gene called apolipoprotein E or APOE, a gene that contains instructions for making a protein that carries cholesterol and is well-known risk factor for Alzheimer's.

The team found that a variant of this gene called APOE-e4 doubled the risk of Alzheimer's in blacks, in much the same way it does in whites.

But the study also turned up another gene that has only been weakly associated with Alzheimer's in whites. This gene, called ABCA7, which also plays a role in the production of cholesterol and fats, appears to have a much stronger effect in blacks.

"In whites, it increases risk by 10 to 20 percent, but in African Americans, it increases risk by about 70 to 80 percent. It has a way larger effect size in African Americans," said Dr. Christiane Reitz of Columbia University Medical Center, who conducted the genetic analyses on the study.

ABCA7 is also involved in cholesterol metabolism, as are several of the genes which have been found in the past five years or so to be linked with Alzheimer's in whites.

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Study finds gene that may raise Alzheimer's risk in blacks

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Errors Of The Human Body US Release TRAILER 1 (2013) - Michael Eklund Thriller HD
Subscribe to TRAILERS: http://bit.ly/sxaw6h Subscribe to COMING SOON: http://bit.ly/H2vZUn Like us on FACEBOOK: http://goo.gl/dHs73 Errors Of The Human Body ...

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Genetic engineering THE SEQUEL
cabbages comes back for discussion.

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Genetic engineering THE SEQUEL - Video

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Public release date: 9-Apr-2013 [ | E-mail | Share ]

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

New Rochelle, NY, April 9, 2013The decision to perform an invasive procedure to open clogged arteries in the heart instead of first trying medication and lifestyle changes may not reduce a patient's risk of death or of a major cardiac event. Unnecessary procedures to treat chronic, stable heart disease contribute to rising health care costs. A targeted approach to avoiding this kind of overutilization by instead relying on evidence-based decision-making is presented in Population Health Management, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Population Health Management website at http://www.liebertpub.com/bari.

Lisa Behnke, MD, MHA, BSN and coauthors from OptumHealth Care Solutions (Fort Myers, FL and Golden Valley, MN) and Jefferson School of Population Health (Philadelphia, PA) emphasize that whereas percutaneous coronary intervention (PCI) may be a lifesaving procedure for patients with an acute coronary event, it may not be more beneficial in stable coronary artery disease than more conservative treatment approaches, yet it has become increasingly common over the past 30 years.

In the article "A Targeted Approach to Reducing Overutilization: Use of Percutaneous Coronary Intervention in Stable Coronary Artery Disease," the authors present a model for shared decision-making in which physicians and patients together consider the various treatment options, what each involves, their risks, and a comparison of the outcomes associated with each according to the latest evidence published in the medical literature.

"This study is a prime example of how comparative effectiveness research offers the promise of improved quality and safety, as well as lower cost," says Editor-in-Chief David B. Nash, MD, MBA, Dean and Dr. Raymond C. and Doris N. Grandon Professor, Jefferson School of Population Health, Philadelphia, PA. "Better informed decisions means the right treatments will be given to the right patients. This means fewer complications and shorter hospitalizations."

###

About the Journal

Population Health Management is an authoritative peer-reviewed journal published bimonthly in print and online that reflects the expanding scope of health care management and quality. The Journal delivers a comprehensive, integrated approach to the field of population health and provides information designed to improve the systems and policies that affect health care quality, access, and outcomes. Comprised of peer-reviewed original research papers, clinical research, and case studies, the content encompasses a broad range of chronic diseases (such as cardiovascular disease, cancer, chronic pain, diabetes, depression, and obesity) in addition to focusing on various aspects of prevention and wellness. Tables of content and a sample issue may be viewed on the Population Health Management website at http://www.liebertpub.com/bari. Population Health Management is the Official Journal of the Care Continuum Alliance.

About the Publisher

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Is medical therapy a better and safer choice than angioplasty

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Public release date: 9-Apr-2013 [ | E-mail | Share ]

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

New Rochelle, NY, April 9, 2013One of the main obstacles that stands in the way of using human hematopoietic stem cells (hHSCs) to treat a variety of diseases is the difficulty growing them in culturethey quickly die or differentiate into other cell types. A series of experiments that demonstrate the successful use of fat cells as part of a feeder layer to support prolonged growth of hHSCs in culture is reported in an article in BioResearch Open Access, a bimonthly peer-reviewed open access journal from Mary Ann Liebert, Inc., publishers. The article is available on the BioResearch Open Access website.

In the article "Extending Human Hematopoietic Stem Cell Survival In Vitro with Adipocytes" Dean Liang Glettig and David Kaplan, Tufts University, Medford, MA included adipocytes (fat cells) in varying amounts and locations in the feeder layers of hHSCs being grown in the laboratory. They varied the concentrations of different cell types including adipocytes in the feeder layer, comparing different amounts of adipocytes, and evaluated the effect of direct cell-to-cell contact between the hHSCs and the adipocytes in the feeder layer on the survival rate of the hHSCs.

"The ability to prolong hHSC culture in vitro not only benefits basic stem cell research, it is also an important step towards developing advanced cell therapies for future clinical use," says BioResearch Open Access Editor Jane Taylor, PhD, MRC Centre for Regenerative Medicine, University of Edinburgh, Scotland.

###

About the Journal

BioResearch Open Access is a bimonthly peer-reviewed open access journal led by Editor-in-Chief Robert Lanza, MD, Chief Scientific Officer, Advanced Cell Technology, Inc. and Editor Jane Taylor, PhD. The Journal provides a new rapid-publication forum for a broad range of scientific topics including molecular and cellular biology, tissue engineering and biomaterials, bioengineering, regenerative medicine, stem cells, gene therapy, systems biology, genetics, biochemistry, virology, microbiology, and neuroscience. All articles are published within 4 weeks of acceptance and are fully open access and posted on PubMed Central. All journal content is available on the BioResearch Open Access 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 Tissue Engineering, Stem Cells and Development, Human Gene Therapy and HGT Methods, and AIDS Research and Human Retroviruses. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 70 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website (https://www.liebertpub.com).

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Fat cells prolong survival of human stem cells grown in vitro

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Genetic engineering is in the news again. I say, bring it on.

When they passed out the genes that give women a sense of style, skill with a curling iron, artistry with the paint pots, I drew blanks. Genetic engineering might be the answer.

A church committee chairperson called and invited me to participate in a church fashion show. I agreed, thinking I might give other glamour-challenged women hope.

Besides, I thought my pastor/hero and role model would be a good sport and say yes too. Ha. They didnt even ask her, in respect for her dignity. I guess I dont have much of that either.

Ever since I can remember, Ive never enjoyed primping and powdering, clothes-shopping and hairdos. The reason Im sure this is a genetic deficiency is that my Mom was the same. We shared genes for fine straight hair and lack of style.

Youre so nice and tall, Mom always said of me. Her 5-foot-2 saw my 5-foot-6 as elegant, and she thought I looked swell no matter what I wore.

She also said, Whats wrong with the dress you have? a lot. AndWhy do you need another one? You can only wear one at a time. So I never had much chance to develop my under-endowed femininity.

In retrospect, Im beginning to think my denominational sisters invited me in a well-intentioned demonstration of pity. A charity case, as it were.

I said yes, assuming I had committed to one hour, one evening, a month away.

Again, ha.

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Fashionista, Part 1

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April 9, 2013

Rayshell Clapper for redOrbit.com Your Universe Online

What, Why and How?

What exactly is human genetic engineering (HGE or HGM)? Its a simple question with a complex answer. According to the Association of Reproductive Health Professionals (ARHP), HGM is a process by which scientists and medical professionals alter the genetic makeup, or DNA, in a living human cell. Ideally, HGM would be used to fix defective genes that cause diseases and other genetic complications.

In one method of altering the genes of living cells, scientists insert a new gene into a virus-like organism. This organism is then allowed to enter the cells and insert the new gene into the genome. Human genetic engineering uses two applications to do this: somatic and germline. It is important to note the distinction between these two applications.

Somatic engineering (from the Greek word soma, which means body) targets specific genes in specific organs and tissues without affecting the genes in the eggs or sperm (depending upon the gender of the person). The aim of this type of human genetic engineering is to treat or cure an existing condition. It does not alter the individuals entire genetic makeup as a report for the Genetics and Public Policy Center explains.

The other type of human genetic engineering is germline, which targets the genes in eggs, sperm, or embryos in very early stages of development. This means that the genetic modifications that take place affect every cell created afterwards in the developing embryos body. Germline HGM also means that the modifications are passed on to all future generations if the individual goes on to have offspring. Obviously, germline HGM tends to be more controversial because the introduction of the gene alters future reproduction, whereas somatic HGM only affects the individual on which it is performed.

Finally, cloning can be considered as a third method of HGM. The US Department of Energys genomics website explains that there are three main types of cloning: recombinant DNA technology or DNA cloning, reproductive cloning, and therapeutic cloning. DNA cloning is the transfer of a DNA fragment from one organism to a self-replicating genetic element in order for the DNA to replicate itself in a foreign host cell. Reproductive cloning, on the other hand, is used to generate an organism that has the same nuclear DNA as another currently or previously existing organism (think of Dolly the sheep). Finally, therapeutic cloning also known as embryo cloning involves the production of human embryos for use in research.

The Controversy

On February 13, 2013, experts debated whether the US should ban specifically prenatal engineering. Livescience.com reported about this debate over HGM as the concern turned from empowering parents to give their children the best start possible to creating designer babies who may encounter genetic problems as a result of the genetic engineering of humans.

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Human Genetic Engineering: A Very Brief Introduction

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Obama Says FULLY Automatic Weapons at Sandy Hook
How many people really don #39;t know the difference between Semi-Automatic and Fully Automatic weapons? Tag Cloud: NwoSatire Illuminati NWO Alien Invasion "New ...

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Public release date: 9-Apr-2013 [ | E-mail | Share ]

Contact: Vanessa Wasta wasta@jhmi.edu 410-614-2916 The JAMA Network Journals

Presence of the genetic mutation BRAF V600E was significantly associated with increased cancer-related death among patients with papillary thyroid cancer (PTC); however, because overall mortality in PTC is low and the association was not independent of tumor characteristics, how to use this information to manage mortality risk in patients with PTC is unclear, according to a study in the April 10 issue of JAMA, a Genomics theme issue.

"Papillary thyroid cancer is the most common endocrine malignancy and accounts for 85 percent to 90 percent of all thyroid cancers," according to background information in the article. "The overall 5-year patient survival rate for PTC is 95 percent to 97 percent. A major clinical challenge is how to reliably distinguish patients who need aggressive treatments to reduce mortality from those who do not. This represents a widely controversial issue in thyroid cancer medicine, particularly because of the low overall mortality of this cancer. The issue has become even more challenging given the high annual incidence of PTC." BRAF V600E is a prominent oncogene [ a gene, one or more forms of which is associated with cancer] in PTC and "has drawn considerable attention as a potential prognostic factor for PTC. However, the clinical significance of this mutation in PTC-related mortality has not been established."

Mingzhao Xing, M.D., Ph.D., of the Johns Hopkins University School of Medicine, Baltimore, and colleagues conducted a study to examine and define the association between the BRAF V600E mutation and PTC-related mortality. The study included 1,849 patients (1,411 women and 438 men) with a median (midpoint) age of 46 years and an overall median follow-up time of 33 months after initial treatment at 13 centers in 7 countries between 1978 and 2011.

The overall prevalence of BRAF V600E was 45.7 percent (845/1,849). There were 56 PTC-related deaths among the 1,849 patients, representing an overall mortality of 3.0 percent. Among these deaths, 45 cases (80.4 percent) were positive for BRAF V600E. The overall mortality of all PTC cases was 5.3 percent (45/845) in BRAF V600E-positive patients vs. 1.1 percent (11/1,004) in mutation-negative patients.

When the aggressive tumor features of lymph node metastasis, extrathyroidal invasion, and distant metastasis were also included in the model, the association of BRAF V600E with mortality for all PTC was no longer significant, the authors write. "A higher BRAF V600E-associated patient mortality was also observed in several clinicopathological subcategories, but statistical significance was lost with adjustment for patient age, sex, and medical center."

"In summary, in this multicenter study, the presence of the BRAF V600E mutation was significantly associated with increased cancer-related mortality among patients with PTC. However, overall mortality in PTC is low, and the association was not independent of tumor behaviors. Therefore, how to use BRAF V600E for the management of mortality risk among patients with PTC is not clear. These findings support further investigation of the prognostic and therapeutic implications of BRAF V600E status in PTC."

(JAMA. 2013;309(14):1493-1501; Available pre-embargo to the media at http://media.jamanetwork.com)

Editor's Note: Please see the article for additional information, including other authors, author contributions and affiliations, financial disclosures, funding and support, etc.

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Association between genetic mutation and risk of death for patients with thyroid cancer

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Contact: Kim Menard kim.menard@uphs.upenn.edu 215-662-6183 University of Pennsylvania School of Medicine

PHILADELPHIA - A variation in the gene ABCA7 causes a twofold increase in the risk of late onset Alzheimer disease among African Americans, according to a meta-analysis by a team of researchers including experts from the Perelman School of Medicine at the University of Pennsylvania. This is the largest analysis to date to determine genetic risk associated with late-onset Alzheimer disease (LOAD) specifically in African American individuals. The study appears in the April 10 issue of JAMA, a genomics theme issue.

The Alzheimer Disease Genetics Consortium (ADGC) led by Gerard Schellenberg, PhD, professor of Pathology and Laboratory Medicine in the Perelman School of Medicine compared genetic data from nearly 6,000 African Americans over 60 years of age, with and without Alzheimer disease. The researchers found that the genotypes with the strongest association with the risk of LOAD among African Americans were ABCA7 (odds ratio, 1.8) and APOE (odds ratio, 2.3), genotypes also associated with increased risk among individuals of European ancestry. The association with ABCA7 was 60 percent stronger among African Americans than it had been observed among individuals of European ancestry.

"While the genotypes are similar between groups, the strength of risk is significantly different," said Schellenberg. "ABCA7 was previously identified to be weakly involved in the risk of Alzheimer disease among non-hispanics of European ancestry. Among African Americans, however, the gene is associated with a much stronger risk of late-onset Alzheimer disease."

African Americans have a higher incidence of late-onset AD, which affects 1 percent of people at age 65 years to more than 30 percent of people older than 80 years. As much as 20 percent of the disease-attributable risk is related to the APOe4 gene variation.

Researchers note that, if the study can be validated and replicated in additional studies, these findings may have "major implications for developing targets for genetic testing, prevention, and treatment."

###

Richard Mayeux, MD, MSc, and Christine Reitz, MD, PhD, both from Columbia University Medical Center, led the study for the Alzheimer Disease Genetics Consortium. In addition to Dr. Schellenberg, collaborators from Penn's Department of Pathology and Laboratory Medicine include Li-San Wang, PhD; Otto Valladares, MS; Chiao-Feng Lin, PhD; and Laura B. Cantwell, MPH. The study was funded by numerous grants from the National Institute on Aging, within the National Institutes of Health. Additional information including a complete list of co-authors and funding sources is included in JAMA study.

Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise.

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Alzheimer gene ABCA7 significantly increases late-onset risk among African Americans

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NEW YORK Harold M. Schmeck Jr. a science writer for The New York Times for more than 30 years who specialized in covering medical research, from the space age to the era of genetic medicine died April 1 in Hyannis. He was 89.

He died after a heart attack, said his son, Peter.

Mr. Schmeck, who worked at The Times from 1957 to 1989, filed exclusive articles on the health of some of the first American astronauts in the 1960s, as well as on the beginning of the effort to map the human genome in the 1980s. He wrote extensively about organ transplants, AIDS, and the federal agencies involved with public health.

Mr. Schmeck wrote with conversational clarity on complicated subjects.

Two American astronauts are expected to come back to Earth tomorrow tired and badly in need of shaves and showers but carrying with them the answer to one of the most important questions facing the whole United States program of space exploration, he wrote in a 1965 article about the Gemini 5 space mission, at the time the longest manned spaceflight. The question is: What are the effects on a man of a spaceflight long enough to have taken him to the moon and back?

The answer: probably nothing serious.

In 1987, he described advances in identifying genetic markers on human chromosomes: Before the discovery of markers, chromosomes were like unnumbered avenues; the markers are like cross streets that enable a gene to be placed, say, between 15th Street and 16th Street along the avenue of the chromosome.

Harold Marshall Schmeck Jr. was born in Tonawanda, N.Y., near Buffalo. After serving in the US Army Air Corps during World War II, he graduated with a degree in English from Cornell in 1948 and quickly found work as an editor with the universitys Alumni News. He then worked briefly for a small paper in Illinois before joining The Rochester Times-Union.

It was there that he began his science writing career. Just three years later, he won a Nieman fellowship to Harvard. He joined The Times in 1957.

Mr. Schmeck, who lived on Cape Cod in Chatham, leaves his son and a grandson. His wife of 59 years, the former Lois Gallo, died in 2010.

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Harold M. Schmeck Jr., 89; science writer specialized in covering medical research for N.Y. Times

Recommendation and review posted by Bethany Smith

NEW YORK--(BUSINESS WIRE)--

Inova Translational Medicine Institute, a not-for-profit research initiative bringing personalized medicine to the public, has chosen a joint solution by Medidata Solutions (MDSO) and Digital Infuzion to support a unique observational study involving the correlation between a childs genetic profile, their development and their long-term health. Together, Medidata and Digital Infuzion will deliver a web-based portal and cloud technology for collecting patient data, reviewing study progress and providing subjects with access to surveys and study information.

In a unique combination of genomics and clinical research, Inova is studying 2,500 families to analyze and predict the relationship between genetics and childhood developmental issues. The study will follow the infants for the first 1,000 days, starting in utero, and identify any health and development issues. By comparing these with the genetic profile of each family (child, mother and father), Inova hopes to identify specific genomic information associated with the medical issues, ultimately leading to new treatment and prevention pathways.

The joint solution will bring together Medidata Ravethe industry-leading system for capturing, managing and reporting clinical research datawith Digital Infuzions N of 1 Health Research Platforma technology service that provides tools for physicians and other care team members to collect, monitor and report on data and medical knowledge related to observational research, chronic disease and patient outcomes. Through a computer single sign-on, researchers will enter data about subject health, monitor participants and track study progress. Participating parents will complete surveys every six months via the portal and will have access to study updates and a library of materials to guide them through the three-year trial. Researchers can also generate immediate ad hoc reports aggregating real-time data from multiple sources, including patient health data from Rave and surveys, and genomic sequencing stored in the Amazon Cloud.

To support efficient study execution and insightful analysis, Inova required an intuitive system that made it easy for parents and site staff alike to enter patient observations and access study information, while also offering robust reporting that could generate dynamic, data-rich reports to enable insightful analysis.

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About Inova Translational Medicine Institute

Inova Translational Medicine Institute (ITMI) is a not-for-profit research institute delving into the genomics component of personalized medicine. ITMI is utilizing genomic and clinical information from patients to develop innovative methods for personalized patient care. Pilot studies at the Institute have generated a large genomic and clinical data set that can be used as pilot data in a variety of fields, from computational biology to psychology as well as more obvious biomedical research applications. ITMIs goal is to utilize information from its pilot studies to better understand and predict the onset of disease, leading to the implementation of preventive medicine based on the unique genomics of the individual patient.

About Digital Infuzion, Inc.

Digital Infuzion is a custom biomedical informatics solutions provider focused on developing and applying technology to empower decision making and accelerate insight for health, science and human understanding in the life sciences and clinical research industries. Working at the intersection of biology, medicine and technology, our deep understanding of these fields grants us the ability to offer the most innovative technology services and real-world solutions to the world's leading research centers and healthcare organizations, for the advancement of biomedical informatics.

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Groundbreaking Clinical Trial Research on Genetic Basis of Children’s Health Powered by Cloud Technology from Medidata ...

Recommendation and review posted by Bethany Smith

Newswise PHILADELPHIA - Late stage thyroid cancer patients with aggressive disease may benefit from a genetic test, but experts caution that use of this test in early stage patients is inappropriate because it is unlikely to lead to better outcomes. Testing for BRAF V600E-positive tumors should be reserved for patients older than 45 who have more advanced disease, according to an accompanying editorial in JAMA co-authored by two Perelman School of Medicine researchers at the University of Pennsylvania.

The most common form of thyroid cancer, papillary thyroid cancer (PTC), has an excellent prognosis when caught early, with five year survival rates of 98 percent. But 7 percent of people have an aggressive form of PTC that is more difficult to treat. A JAMA study looking at a test for a mutation in the BRAF gene (V600E) suggests that this gene mutation may be part of what makes the tumor so aggressive, suggesting that targeted treatments may be effective at inhibiting the BRAF function in PTC patients with advanced disease.

"While thyroid cancer is treatable and has a good prognosis in most cases, the aggressive cases of PTC can be unpredictable" said editorial co-author Anne Cappola, MD, ScM, associate professor of Medicine in Endocrinology in the Perelman School of Medicine at the University of Pennsylvania and a contributing editor at JAMA. "Genetic testing for these aggressive cases, but not for all cases, may help us match people's tumors with targeted treatments, when possible."

Co-author Susan Mandel, MD, MPH, director of the Penn Thyroid Center, professor of Medicine and Radiology, and incoming vice president of The Endocrine Society, noted that "patients with these aggressive forms of PTC may be eligible to participate in clinical trials testing drugs targeting BRAF and other targeted therapy trials."

The Penn-authored JAMA editorial is in reference to "Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer" by Xing et al, also in this week's genomics edition of JAMA.

# # #

Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $4.3 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 16 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $398 million awarded in the 2012 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital the nation's first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2012, Penn Medicine provided $827 million to benefit our community.

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Testing for BRAF Genetic Mutation Beneficial Only in Aggressive Thyroid Cancers

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Crafoord Vetenskapslunch - Mat som - eller istället för - medicin?
Emily Sonestedt, nutritionsepidemiolog vid Lunds universitet. Vetenskapslunch på Martas Café, Stadsbiblioteket i Lund den 3 april 2013.

By: Medicinska Fakulteten, LU

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Crafoord Vetenskapslunch - Mat som - eller istället för - medicin? - Video

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HORSE ROOM MASSACRE (The Hidden)
Enjoy the video? Subscribe! http://bit.ly/M0mU1V #9669; #9669; #9669; Want some gear? US Store: http://seananners.spreadshirt.com EU Store: http://seananners.spreadshirt....

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HORSE ROOM MASSACRE (The Hidden) - Video

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Reprogramming Breast Cancer Risk in Utero via Endocrine Disruptor and Dietary Fat Interaction
Visit: http://www.uctv.tv/) Shuk-mei Ho, Director of the Center for Environmental Genetics at the University of Cincinnati, is internationally recognized fo...

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Reprogramming Breast Cancer Risk in Utero via Endocrine Disruptor and Dietary Fat Interaction - Video

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Do Babies Matter? Gender and Family in the Ivory Tower
Visit: http://www.uctv.tv/) Women have achieved parity in obtaining doctoral degrees, but do not experience the same career trajectory as men. Is this discr...

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Do Babies Matter? Gender and Family in the Ivory Tower - Video

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