Public release date: 11-Apr-2013 [ | E-mail | Share ]

Contact: Jenny Eriksen jenny.eriksen@bmc.org 617-638-6841 Boston University Medical Center

(Boston) Researchers from Boston University School of Medicine (BUSM) have pinpointed a genetic signature for chronic obstructive pulmonary disease (COPD) from airway cells harvested utilizing a minimally invasive procedure. The findings provide a novel way to study COPD and could lead to new treatments and ways to monitor patient's response to those treatments. The study is published online in the American Journal of Respiratory and Critical Care Medicine.

Chronic obstructive pulmonary disease (COPD) is a progressive lung disease that leads to the loss of lung function primarily caused by cigarette smoking. It causes coughing, wheezing, shortness of breath, chest tightness and other symptoms that make it difficult to breathe. While there are treatments and lifestyle changes that can help people cope with COPD, there currently is no cure and there are no effective therapies to reduce the rate of lung function decline. According to the National Institutes of Health's National Heart, Lung, and Blood Institute (NHLBI), which partially funded the study, COPD is the third leading cause of death in the United States, resulting in approximately 135,000 deaths each year.

"There have been limited molecular studies of COPD given the inaccessibility and invasiveness of obtaining lung tissue," said Katrina Steiling, MD, MSc, assistant professor of medicine at BUSM who served as the study's first author. The researchers hypothesized that while COPD primarily affects the tissue deep within the lung, the effects of COPD might be detectable in relatively accessible tissue throughout the respiratory tract. This echoes previous work they had done that found that cancer found deep in the lung could be detected by cancer-specific patterns of gene expression in the largest airways connected to the windpipe, far from the tumor.

To examine their hypothesis, the research team used airway cells obtained during a bronchoscopy, a procedure that involves putting a small camera into the airway through the nose or mouth. During the procedure, which can be done while a patient is awake under local anesthesia or moderate sedation, a cytology brush is used to gently scrape the sides of airways to collect cells.

They examined 238 samples from current and former smokers that had been collected by Stephen Lam, MD, a collaborator from the University of British Columbia. Eighty seven of the samples were from patients who had been diagnosed with mild to moderate COPD based on their lung function. The other 151 samples represented patients who did not have COPD based on these criteria.

When the researchers compared the airway samples from both groups, they found that 98 genes were expressed at different levels in those diagnosed with COPD compared to those without COPD. In order to determine how similar the airway cell changes were to lung tissue cells, the researchers compared their results with previously published findings on the gene expression changes associated with COPD in lung tissue. The results of the comparison demonstrate that the changes that occur in the airway cell samples in those diagnosed with COPD were similar to the changes in lung tissue cells of individuals with the disease despite the airway cells coming from regions of the lung not thought to be altered by disease.

"Our data shows that there are consistent gene-expression changes that occur in both airway and lung tissue cells in individuals with COPD," said Avrum Spira, MD, MSc, Alexander Graham Bell professor of medicine and chief of the division of computational biomedicine at BUSM who served as one of the senior co-authors of the study.

To investigate the effects of treatment on the COPD-associated gene expression changes, the researchers collaborated with a team led by Maarten van den Berge, MD, PhD, from the University of Groningen Medical Center in the Netherlands that had collected airway cells from COPD patients before and after they started steroid therapy. They found that the expression of some genes that changed due to COPD reversed their expression after treatment and started to look more like the levels seen in current or former smokers without COPD.

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Each cancer patients response to chemotherapy is unique. Some may experience nausea and immune deficiency, while others can experience a more severe adverse condition known as chemotherapy-induced peripheral neuropathy (CIPN) a form of nerve damage that can be so debilitating, it often prompts patients to stop treatment early.

Doctors have had a hard time predicting which patients will ultimately develop CIPN, making it difficult to tailor treatment so that it is most effective for each individual. But now, new research has revealed seemingly benign genetic mutations that may influence who develops this painful side effect.

In a study from the Mayo Clinic Cancer Center, researchers have implicated the genes EPHA5, ARHGEF10 and PRX as playing significant roles in the development of CIPN. This discovery can ultimately help doctors to have a better understanding of CIPN and whether or not their patients should move forward with certain cancer treatments.

Chemotherapy-induced peripheral neuropathy is one of the most important, unmitigated side effects of chemotherapy, lead author Dr. Andreas Beutler, an oncologist at the Mayo Clinic Cancer Center, told FoxNews.com. You have some other side effects that used to be very important such as nausea and immune deficiency but special medications have been developed. With CIPN, it has actually become the most prominent and troubling side effect for many chemotherapy patients, because there is no medication for it.

Peripheral neuropathy is caused by damage to the peripheral nerves, which are furthest away from the brain and spinal cord. When chemotherapy damages these nerves, the condition becomes CIPN. Symptoms vary in type and intensity depending on which peripheral nerves are damaged, but they typically include shooting pain, burning, tingling or electric shock-like pain, loss of feeling, balance issues and muscle weakness. The symptoms can become so severe that patients lose the ability to walk normally and are left with permanent numbness in their extremities.

CIPN affects an estimated 30 to 40 percent of patients, but there is no current way to determine who will experience it or how severe it will be.

Beutler and his colleagues decided to analyze the genetics of cancer patients through exome sequencing - a form of DNA analysis that selectively sequences the parts of the genome responsible for coding functional proteins. Known as the exonic region, this area is estimated to house 85 percent of all disease-causing genetic mutations.

The researchers performed exome sequencing on 20,794 genes from 119 cancer patients. Half of the patients were experiencing CIPN during their chemotherapy trial.

The genome is three billion nucleotides, meaning the whole genome has three billion different positions, Beutler said. Out of those, we assessed 60 million of each patient that are best understood the exome. Thereby, we could get a very good view of the part of the genome that is most important and most relevant to our question.

Exome sequencing of the more than 20,000 genes lead the researchers to EPHA5 a previously implicated gene in hereditary peripheral neuropathy as well as two new genes ARHGEF10 and PRX. Genetic mutation in all three areas was associated with a predisposition to CIPN.

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Genetic mutations may predict who will develop chemotherapy side effects

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Public release date: 11-Apr-2013 [ | E-mail | Share ]

Contact: Matt Fearer fearer@wi.mit.edu 617-452-4630 Whitehead Institute for Biomedical Research

CAMBRIDGE, Mass. (April 11, 2013) In a surprising finding that helps explain fundamental behaviors of normal and diseased cells, Whitehead Institute scientists have discovered a set of powerful gene regulators dubbed "super-enhancers" that control cell state and identity. Healthy cells employ these super-enhancers to control genes responsible for cellular functions and developmental transitionssuch as that from embryonic stem cell to nerve cellbut cancer cells are able to assemble their own insidious super-enhancers to overproduce harmful oncogenes that lead to aggressive tumors.

"We have been marveling at the complexity of cellular control, with millions of enhancers controlling tens of thousands of genes in the vast array of cells that comprise human beings," says Whitehead Member Richard Young. "So it was a surprise to find that only a few hundred super-enhancers control most key genes that give each cell its special properties and functions, and furthermore, that these special controls are hijacked in cancer and other diseases."

The findings are described in dual papers from Young and collaborators at Dana-Farber Cancer Institute published together in the April 11 edition of the journal Cell.

In the first work, the Young lab establishes a model of gene regulation in normal cells that appears to be dramatically less complex and more solvable than previously thought. To date, a vast body of researchincluding that of the recently described ENCODE (Encyclopedia of DNA Elements) projecthas identified more than one million enhancers or "switches" that control gene expression in mammalian cells. Deciphering the precise function and target gene for each of these switches will be a daunting task, but Young and colleagues have found something of a shortcut to solving the core gene control circuitry. They show that only a few hundred special switchesthat is, super-enhancerscontrol the key genes that actually make each cell different.

"What is fantastic about this concept is its simplicity," notes Denes Hnisz, a Young lab postdoctoral scientist and a co-author of the first Cell paper. "We found that genes that are especially important for each cell are regulated by these specialized enhancers. But we also discovered that the super-enhancers are especially quick to change during development, and thus loss of old super-enhancers and establishment of new ones drives cell identity changes during development."

Young says such changes in cell identity probably begin and end with the super-enhancers, which, though powerful, are also exquisitely sensitive to alterations in their environment. In fact, as differentiation begins, active super-enhancers are decommissioned, leading to changes in gene expression programs that fall under the control of newly established super-enhancers. It's a process that adds remarkable insight to our understanding of how a fertilized egg eventually gives rise to the more than one trillion cells of the human body.

"The discovery of super-enhancers promises to help us solve the regulatory circuitry of all human cells," Young says. That includes cancer cells.

While mapping the locations of super-enhancers along the genome of multiple myeloma (MM) cells, which are especially aggressive blood cancer cells, Young lab scientists found them in areas associated with known cancer-causing genes, including the notorious MYC oncogene. It turns out these MM cells were forming their own super-enhancers to drive dangerous overexpression of their oncogenes. Moreover, this phenomenon was not limited to MM cells, as the researchers identified super-enhancers at key tumor genes in small-cell lung cancer and the brain cancer glioblastoma multiforme.

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Genetic master controls expose cancers' Achilles' heel

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Is the Human Mind Unique?--Archaeological Evidence;Desperately Seeking Explanation;Moral Sense
Visit: http://www.uctv.tv/) Cognitive abilities often regarded as unique to humans include humor, morality, symbolism, creativity, and preoccupation with th...

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UNIVERSAL THEORY "Mystery Timeline" Album Promo Video
UNIVERSAL THEORY "Mystery Timeline" Full length album out on Metal Hell Records in May 2013 CD/ MP3 and Limited Edition vinyl LP.

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#1581; #1604; #1605; #1608; #1575; #1605; #1604;

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حلم وامل - Video

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Carlos Polo - por que te ame

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Debut Of DNA Genetics Exodus Kush
DNA Genetics Exodus Kush is looking great in the marijuana flowering space. Didn #39;t grow as much as I expected when thrown into flowering, but has turned into...

By: Matt Mernagh

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State of Decay Update, Release Date (Which there is none), Storyline, And Basic Overview
If you enjoyed this video please SUBSCRIBE. bull;Check me out on TWITTER @KOMODOMOJO for up to date uploads. bull;If you have any questions please do not be afraid ...

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How To Put Flat Bands On The PFS, Pickle Fork Shooter
This simple method for any forked shooter. Tex flat bands are the Best and give Raycarl #39;s pouches a try.

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The Kojaks - "Let #39;s let the flow flow"
Video de The Kojaks tocando en directo su tema "Let #39;s let flow flow" en la sala Loco Club de Valencia. Os mandamos un fuerte abrazo a toda la familia kojak, ...

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DNA Vergadering 09-04-2013

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Seattle Genetics Inc. ( SGEN ) recently presented data on its antibody-drug conjugate (ADC) candidates at the annual meeting of the American Association for Cancer Research (AACR).

Preclinical data on SGN-CD33A showed significant antitumor activity in acute myeloid leukemia (AML) models. Seattle Genetics intends to file an investigational new drug (IND) application and start a phase I study in 2013.

Another candidate, SGN-LIV1A, showed encouraging pre-clinical data for breast cancer. Seattle Genetics will file an IND application for SGN-LIV1A as well and start a phase I study in 2013 for breast cancer.

Seattle Genetics' sole marketed ADC product is Adcetris. Adcetris is used for the treatment of patients with Hodgkin's lymphoma (HL) after failure of autologous stem cell transplant (ASCT) or after failure of at least two prior multi-agent chemotherapy regimens in patients who are not suitable for ASCT. Adcetris is also approved for the treatment of systemic anaplastic large cell lymphoma (sALCL) after failure of at least one multi-agent chemotherapy regimen.

Adcetris was approved by the US Food and Drug Administration (FDA) in Aug 2011, got EU approval in Oct 2012 and marketing authorization in Canada in Feb 2013.

ADCs have been attracting a lot of interest of late with major companies entering into collaborations. Seattle Genetics has collaborations with companies like Roche Holding AG 's ( RHHBY ) Genentech for the development of ADCs.

A few days back, Astellas Pharma, Inc. ( ALPMY ) announced a deal with Ambrx Inc. for the discovery and development of novel ADCs.

Seattle Genetics carries a Zacks Rank #3 (Hold). Right now Cleveland BioLabs, Inc. ( CBLI ) looks more attractive with a Zacks Rank #1 (Strong Buy).

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Hawkes Bay paralympian, Gavin Foulsham has an exciting new challenge ahead of him as the new CEO of the worlds largest red meat genetics company, Focus Genetics.

For the past four years, Mr Foulsham has worked as the general manager of the Farmlands Card, where his focus has been to engage shareholders. During this time the turnover of the business increased by $100 million.

Mr Foulsham spent several years working as general manager of MoleMap, a high growth New Zealand technology company. He successfully ran the New Zealand business before launching the brand in Australia.

The new CEO also has a rural background, having grown up on a farm in the Nelson region.

"I am really excited about the opportunity to play a big role in shaping the future of New Zealands red meat genetics. I grew up on a farm so I have been around animals for a long time. I have connected with a lot of farmers during my time at Farmlands. I love dealing with the guys who work the land. They call a spade a spade and thats what heartland New Zealand is all about," said Mr Foulsham.

Focus Genetics Chairman, Andy Pearce says Mr Foulshams rural background, combined with his experience working in science and technology sets him up well to lead Focus Genetics into the future.

"Gavins technical sales and distribution experience will be highly valued. He is also well connected with farmers so we look forward to working with him."

Mr Foulshams a former Paralympian wheelchair racer, having represented New Zealand at the 1992 Barcelona Paralympics and Sydney in 2000 where he finished fifth in the 800m and ninth in the marathon. He is the New Zealand title holder for Para Rowing and has also completed the Boston Marathon and Coast to Coast.

Last year, Mr Foulsham missed out on selection for the London Paralympics. He had aimed to be part of the NZ Double Scull Para Rowing Crew.

"My involvement in sport has taught me a great deal that I use in business. I know how important planning is for success, and Im looking forward to learning more about genetics and helping Focus Genetics implement a plan to drive the next stage of growth"

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Focus Genetics appoints CEO

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RUTHERFORD, N.J.--(BUSINESS WIRE)--

Cancer Genetics, Inc. (CGIX), a diagnostics company focused on developing genomic-based, oncology tests and services, today announced it has closed its initial public offering of 690,000 shares of common stock (including 90,000 shares that were offered and sold by Cancer Genetics pursuant to the exercise in-full of the underwriters over-allotment option) at a price to the public of $10.00 per share. Total gross proceeds from the offering were $6,900,000, before deducting underwriting discounts and commissions and other offering expenses payable by Cancer Genetics.

Aegis Capital Corp. acted as sole book-running manager for the offering.

Feltl and Company, Inc. acted as co-manager for the offering.

This offering was made only by means of a prospectus. Copies of the prospectus relating to this offering may be obtained by contacting Aegis Capital Corp., Prospectus Department, 810 Seventh Avenue, 18th Floor, New York, NY 10019, telephone: 212-813-1010, e-mail: prospectus@aegiscap.com.

A registration statement relating to these securities was declared effective by the Securities and Exchange Commission on April 4, 2013. This press release shall not constitute an offer to sell or a solicitation of an offer to buy, nor shall there be any sale of these securities in any state or jurisdiction in which such an offer, solicitation or sale would be unlawful prior to registration or qualification under the securities laws of any such state or jurisdiction.

About Cancer Genetics:

Cancer Genetics, Inc. is an early-stage diagnostics company focused on developing and commercializing proprietary genomic tests and services to improve and personalize the diagnosis, prognosis and response to treatment (theranosis) of cancer. The proprietary tests being developed by Cancer Genetics target cancers that are difficult to prognose and predict treatment outcomes using currently available mainstream techniques. These cancers include hematological, urogenital and HPV-associated cancers. Cancer Genetics recently has begun to provide its proprietary tests and services along with a comprehensive range of non-proprietary oncology-focused tests and laboratory services that it has provided historically to oncologists and pathologists at hospitals, cancer centers and physician offices. Cancer Genetics is currently offering its tests and laboratory services in its 17,936 square foot laboratory located in Rutherford, New Jersey, which has been accredited under the Clinical Laboratory Improvement Amendments of 1988 to perform high complexity testing.

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Cancer Genetics, Inc. Announces Closing of Initial Public Offering of 690,000 Shares of Common Stock

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Seattle Genetics Inc. (SGEN) recently presented data on its antibody-drug conjugate (ADC) candidates at the annual meeting of the American Association for Cancer Research (:AACR).

Preclinical data on SGN-CD33A showed significant antitumor activity in acute myeloid leukemia (:AML) models. Seattle Genetics intends to file an investigational new drug (IND) application and start a phase I study in 2013.

Another candidate, SGN-LIV1A, showed encouraging pre-clinical data for breast cancer. Seattle Genetics will file an IND application for SGN-LIV1A as well and start a phase I study in 2013 for breast cancer.

Seattle Genetics sole marketed ADC product is Adcetris. Adcetris is used for the treatment of patients with Hodgkin's lymphoma (HL) after failure of autologous stem cell transplant (:ASCT) or after failure of at least two prior multi-agent chemotherapy regimens in patients who are not suitable for ASCT. Adcetris is also approved for the treatment of systemic anaplastic large cell lymphoma (sALCL) after failure of at least one multi-agent chemotherapy regimen.

Adcetris was approved by the US Food and Drug Administration (:FDA) in Aug 2011, got EU approval in Oct 2012 and marketing authorization in Canada in Feb 2013.

ADCs have been attracting a lot of interest of late with major companies entering into collaborations. Seattle Genetics has collaborations with companies like Roche Holding AG's (RHHBY) Genentech for the development of ADCs.

A few days back, Astellas Pharma, Inc. (ALPMY) announced a deal with Ambrx Inc. for the discovery and development of novel ADCs.

Seattle Genetics carries a Zacks Rank #3 (Hold). Right now Cleveland BioLabs, Inc. (CBLI) looks more attractive with a Zacks Rank #1 (Strong Buy).

Read the Full Research Report on SGEN

Read the Full Research Report on RHHBY

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ADC Data from Seattle Genetics

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Sickle Cell Anemia: Mikaili and Khari #39;s Story
SICKLE CELL DISEASE AFFECTS MORE THAN 70-THOUSAND PEOPLE IN THIS COUNTRY. FOR THE ROBERTSON BROTHERS OF HOWARD COUNTY, IT #39;S SOMETHING THEY LIVE WITH.. THANKS...

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Gene Therapy with Jennifer Lawrence Harvey Specter
New Project.

By: John Abbott

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Gene Therapy with Jennifer Lawrence

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Mary Elizabeth Dallas Michigan State University Posted: Wednesday, April 10, 2013, 11:41 AM

-Spanish ID: 675280 -->

A team at Michigan State University (MSU) believes insights into an inherited condition that affects humans and dogs in similar ways could help reverse vision loss in both species.

In 2010, research led by MSU veterinary ophthalmologist Dr. Andras Komaromy showed that vision in dogs suffering from achromatopsia, an inherited form of total color blindness, could be restored by replacing the gene associated with the condition. This treatment, however, was not effective for dogs older than 1 year of age.

Building on his earlier research, Komaromy theorized that certain photoreceptor cells in the eyes called "cones" -- which process light and color -- were simply too worn out in older dogs.

"Gene therapy only works if the nonfunctional cell that is primarily affected by the disease is not too degenerated," he said in a university news release. "That's how we came up with the idea for this new study. How about if we selectively destroy the light-sensitive part of the cones and let it grow back before performing gene therapy? Then you'd have a younger, less degenerated cell that may be more responsive to therapy."

The latest study involved dogs between 1 and 3 years old with achromatopsia. Before replacing the mutant gene, the researchers treated some of the dogs with a protein called CNTF that is used by the central nervous system to keep cells healthy. The dogs were given a dose high enough to partially destroy photoreceptors and enable new growth.

"We were just amazed at what we found," Komaromy said. "All seven dogs that got the combination treatment responded, regardless of age."

Although achromatopsia is a rare condition in humans, the study's authors pointed out that other disorders involving the photoreceptors affect humans and dogs in similar ways. They suggested that this combination treatment model also holds promise for people with these conditions, although it should be noted that success in animal research often does not translate to success in humans.

"Based on our results, we are proposing a new concept of retinal therapy," Komaromy said. "One treatment option alone might not be enough to reverse vision loss, but a combination therapy can maximize success."

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Treatment for blindness in dogs might help people, too

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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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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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