Archive for the ‘Gene Therapy Research’ Category

ScienceDaily (Sep. 24, 2012) A new discovery that sheds light on the genetic make up of ovarian cancer cells could explain why some women survive longer than others with this deadly disease. A multi-disciplinary team led by the Research Institute of the McGill University Health Centre (RI MUHC), in collaboration with the Lady Davis Institute of the Jewish General Hospital and the University of Montreal Hospital Research Centre, has identified genetic patterns in ovarian cancer tumours that help to differentiate patients based on the length of their survival after initial surgery.

The study was published in the journal PLOS ONE.

"We discovered genetic differences in the tumours from ovarian cancer patients that relate to their short-term and overall response to standard treatment," explained Dr. Patricia Tonin, the study's lead author and a cancer researcher at the RI MUHC and Associate Professor of the Department of Medicine at McGill University. "Using these genetic 'tools' to examine the tumours removed in the initial surgery, we may be able to offer alternative therapeutic options to women to improve their outcome."

Each year 2,000 new cases of ovarian cancer are reported in Canada, and in 75 per cent of these cases the women die less than five years after their diagnosis. This study focused on the genetic analysis of high grade serous ovarian carcinomas (HGSC) in women from Quebec -- the deadliest type of ovarian cancer which accounts for 90 per cent of deaths.

Almost all women with HGSC have mutations in the gene TP53, which is responsible for making the p53 protein. This gene is known as the "guardian of the genome" because of its role in regulating cell division and thus preventing cancer. Scientists already knew there were two different types of tumours, some with TP53 mutations that produce a mutant p53 protein and others without.

By uncovering the existence of genetic differences between the two types of HGSCs, the study reinforces the idea that there are biological differences in these cancers that can be related to the nature of the TP53 mutation and differences in genetic markers. The research team also confirmed that patient survival was longer in cases with the mutant p53 protein, compared to those that without the mutant protein.

"Biology is showing us which direction to take," enthused Dr. Tonin. "This unique finding paves the way for identifying the pathways involved in cancer progression, leading to the development of alternative therapies and therefore helping to reduce morbidity and mortality in women fighting the disease."

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Treating ovarian cancer: New pathways through genetics

STOCKHOLM, September 24, 2012 /PRNewswire/ --

As our knowledge of genetics and genomics steadily expands and the potential applications of this understanding multiply, it becomes more and more urgent to address the societal implications of these developments. At a unique gathering in Stockholm on 9 December 2012, Nobel Laureates, prominent scientists, key policy makers and opinion leaders will review the current and future prospects for areas such as personalised medicine, genetically modified organisms and human evolution. With the theme of"The Genetic Revolution and its Impact on Society", this free public conference calledNobel Week Dialogue, will be devoted to reviewing the past 50 years of progress in genetics and genomics and looking towards current and future trends.

Key Topics and Participants

What have the last 50 years of progress in genetics taught us about what to expect in the future?

Can healthcare systems adapt to take advantage of the potential of personalized medicine?

How well do we understand how to manipulate gene expression and what are the consequences of this understanding?

These are some of the questions which will be discussed in a series of thought-provoking sessions and working groups. Participating Nobel Laureates include Bruce Beutler (2011), Steven Chu (1997), Joseph Goldstein (1985), Craig Mello (2006), Daniel McFadden (2000), Christiane Nsslein-Volhard (1995) and James Watson (1962). The 2012 Nobel Laureates will also be invited to attend.

Bruce Beutler, 2011 Nobel Laureate in Medicine says, "The information required to make a complex organism, such as a living person, resides within a few picograms of DNA in the nucleus of every cell. And much of what befalls us as individuals, for better or worse, is at least strongly influenced, if not foretold outright, by this subtle essence. A bit over 50 years ago, we began to understand how the information carried in DNA might be interpreted. Our understanding has grown quite sophisticated, and particularly in recent years, our ability to access DNA sequence has grown enormously. It is a good moment to count our gains, to explain them as best we can, and to consider what new barriers must be overcome."

Helga Nowotny, President of the European Research Council says, "The question before us is how to share the spectacular developments in the life sciences with wider society. Sharing is more than communicating. It means creating common ground that, even if contested, can also reassure and create trust. One often neglected instrument to achieve common ground is the law. It functions to stabilize relations between humans and their mutual expectations, although the objects to be mediated are biological entities or assemblages.I am glad to see that the upcoming event will provide an opportunity to discuss the social and legal issues around genetics."

Some of the experts include Mary-Claire King, President of the American Society of Human Genetics, Eric Lander, founder of the Broad Institute of Harvard and MIT, John Dupr, Director of the ESRC Centre for Genomics in Society and Janet Woodcock, Director of the Center for Drug Evaluation and Research at the Food and Drug Administration. For a complete list of participants, see: http://www.nobelweekdialogue.org/participants/

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Nobel Laureates and Experts Gather to Discuss Genetics and Society

By John von Radowitz

Monday, September 24, 2012

Scientists conducting the largest study of male breast cancer have identified a gene that raises the risk of developing the disease by half.

Findings from the research suggest the causes of the disease may differ between women and men.

Male breast cancer is rare but can be just as lethal as its female counterpart.

It was already known that faulty BRCA2 genes are involved in around 10% of cases, a higher proportion than among women.

Changes in the RAD51B gene involved in the repair of damaged DNA also play a role, according to the research. They increase the risk of male breast cancer by up to 50%.

Dr Nick Orr, from the Breakthrough Breast Cancer Research Centre at the Institute of Cancer Research in London, said: "This study represents a leap forward in our understanding of male breast cancer.

"It shows that while there are similarities with female breast cancer, the causes of the disease can work differently in men. This raises the possibility of different ways to treat the disease specifically for men."

Dr Orr led the research reported yesterday in the journal Nature Genetics.

Continued here:
Gene found that increases risk of male breast cancer

Scientists reported Sunday that they have completed a major analysis of the genetics of breast cancer, finding four major classes of the disease. They hope their work will lead to more effective treatments, perhaps with some drugs already in use.

The new finding offers hints that one type of breast cancer might be vulnerable to drugs that already work against ovarian cancer.

The study, published online Sunday by the journal Nature, is the latest example of research into the biological details of tumors, rather than focusing primarily on where cancer arises in the body.

The hope is that such research can reveal cancer's genetic weaknesses for better drug targeting.

"With this study, we're one giant step closer to understanding the genetic origins of the four major subtypes of breast cancer," Dr. Matthew Ellis of the Washington University School of Medicine said in a statement. He is a co-leader of the research.

"Now we can investigate which drugs work best for patients based on the genetic profiles of their tumors," he said.

The researchers analyzed DNA of breast cancer tumors from 825 patients, looking for abnormalities. Altogether, they reported, breast cancers appear to fall into four main classes when viewed in this way.

One class showed similarities to ovarian cancers, suggesting it may be driven by similar biological developments.

"It's clear they are genetically more similar to ovarian tumors than to other breast cancers," Ellis said. "Whether they can be treated the same way is an intriguing possibility that needs to be explored."

The report is the latest from the Cancer Genome Atlas, a federally funded project that has produced similar analyses for brain, colorectal, lung, and ovarian cancers.

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New breast cancer clues in gene analysis found

The Frankenfoods debate is coming to your dinner table. Justlast month, a mini-war developed in Europe, when the European Unions chief scientist, renowned biologist Anne Glover, said that foods made through genetic engineering, such as soy beansabout 80 percent of US grown soybeans have been genetically engineered are as safe as organic or conventional foods.

Its a wholly uncontroversial commentat least among scientists. But it set off the usual scare mongering from Friends of the Earth, and other like-minded advocacy groups that finds all genetically engineered (GE) foods and crops to be, in their words stomach turning.

The incident is also adding fuel to the California wildfiresno, not the ones caused by the droughtbut the incendiary debate over a fall ballot initiative that would require warning labels on all foods with GE ingredients, despite the fact that all established health and science groups such as the American Medical Association, the National Academy of Sciences and the World health Organizationhave rejected claims that genetically engineered crops or foods pose additional risks or have altered nutritional profiles as compared to foods derived from conventional genetic alteration.

This debate is particularly poignant because fifty years ago this September,with the publication of Silent Spring,Rachel Carson launched the modern day environmental movement by shining a harsh light on the over use of technologyin that era it was chemicalsin farming.

Although Carson never used the term, her passion was sustainability. She envisioned harnessing the knowledge of biological diversityentomology, pathology, genetics, physiology, biochemistry, and ecology- to shape a new science of biotic controls that would help control weeds, diseases and pests without further damaging the environment. Her dream of a science-based agricultural system may come as a surprise to those who believe that sustainability and technology are incompatible.

A truly extraordinary variety of alternatives to the chemical control of insects is available. Some are already in use and have achieved brilliant success. Others are in the stage of laboratory testing. Still others are little more than ideas in the minds of imaginative scientists, waiting for the opportunity to put them to the test. All have this in common: they are biological solutions, based on the understanding of the living organisms they seek to control and of the whole fabric of life to which these organisms belong. Specialists representing various areas of the vast field of biology are contributingentomologists, pathologists, geneticists, physiologists, biochemists, ecologistsall pouring their knowledge and their creative inspirations into the formation of a new science of biotic controls.

(Rachel Carson 1962, p. 278)

Together with colleagues, my laboratory at the University of California, Davis has genetically engineered rice that tolerates flooding and resists disease. As a scientist committed to sustainable agriculture, I have to believe that if Rachel Carson was alive today she would reject the anti-science fear mongering of anti-GE campaigners.

For 10,000 years, humans have altered the DNA makeup of our crops. Conventional approaches were often quite crude, resulting in new varieties through a combination of trial and error, and without knowledge of the precise function of the genes that were being moved around. Such methods include grafting or mixing of genes of distantly related species, as well as radiation treatments to induce random mutations in the genetic makeup of the seed. Today, virtually everything we eat is produced from seeds that have been genetically altered in one way or another.

Over the last 20 years, plant breeding has entered the digital age of biology. Just as software engineers tinker with computer codes to improve machine performance, scientists and breeders are altering the DNA software system of plants to create new genetically engineered crop varieties, often called GMOs, that thrive in extreme environments or can withstand attacks by pests. Like the older conventional varieties, GE crops are also genetically altered, but in a manner that is much more precise and introduces fewer genetic changes. GE crops often contain genes from non-crop species.

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Rachel Carson’s dream of a science-based agriculture may come as a surprise to those who believe that sustainability ...

ScienceDaily (Sep. 23, 2012) A team of scientists with The Cancer Genome Atlas program reports their genetic characterization of 800 breast tumors, including finding some of the genetic causes of the most common forms of breast cancer, providing clues for new therapeutic targets, and identifying a molecular similarity between one sub-type of breast cancer and ovarian cancer.

Their findings, which offer a more comprehensive understanding of the mechanisms behind each sub-type of breast cancer, are reported in the Sept. 23, 2012 online edition of the journal Nature.

The researchers, including a large group from the University of North Carolina at Chapel Hill, analyzed tumors using two basic approaches: first, using an unbiased and genome-wide approach, and second, within the context of four previously known molecular sub-types of breast cancer: HER2-enriched, Luminal A, Luminal B and Basal-like. Both approaches arrived at the same conclusions, which suggest that even when given the tremendous genetic diversity of breast cancers, four main subtypes were observed. This study is also the first to integrate information from six analytic technologies, thus providing new insights into these previously defined disease subtypes.

Charles Perou, PhD, corresponding author of the paper, says, "Through the use of multiple different technologies, we were able to collect the most complete picture of breast cancer diversity ever. These studies have important implications for all breast cancer patients and confirm a large number of our previous findings. In particular, we now have a much better picture of the genetic causes of the most common form of breast cancer, namely Estrogen-Receptor positive/Luminal A disease. We also found a stunning similarity between Basal-like breast cancers and ovarian cancers."

"This study has now provided a near complete framework for the genetic causes of breast cancer, which will significantly impact clinical medicine in the coming years as these genetic markers are evaluated as possible markers of therapeutic responsiveness."

Dr. Perou is the May Goldman Shaw Distinguished Professor of Molecular Oncology and a member of UNC Lineberger Comprehensive Cancer Center.

Among the many discoveries include findings of some of the likely genetic causes of the most common form of breast cancer, which is the Estrogen-Receptor positive Luminal A subtype. Luminal A tumors are the number one cause of breast cancer deaths in the USA accounting for approximately 40 percent, and thus, finding the genetic drivers of this subtype is of paramount importance. The TCGA team found that the mutation diversity within this group was the greatest, and that even specific types of mutations within individual genes, were associated with the Luminal A subtype. Some of these mutations may be directly targetable by a drug(s) that is in clinical development, thus possibly offering new options for many patients.

In addition, the team compared basal-like breast tumors (also known as triple-negative breast cancers) with high-grade serous ovarian tumors and found many similarities at the molecular level, suggesting a related origin and similar therapeutic opportunities. These data also suggest that basal-like breast cancer should be considered a different disease than ER-positive/Luminal breast cancer, and in fact, both basal-like breast cancer and ovarian cancer were more similar to each other than either was to ER-positive/Luminal breast cancer.

Dr. Perou adds, "Cancer is, of course, a complex disease that includes many types of alterations, and thus, no one technology can identify all of these alteration; however, by using such a diverse and powerful set of technologies in a coordinated fashion, we were able to identify the vast majority of these alterations."

Katherine Hoadley, PhD, study co-author, explains, "Our ability to compare and integrate data from RNA, microRNA, mutations, protein, DNA methylation, and DNA copy number gave us a multitude of insights about breast cancer. In particular, highlighting how distinct basal-like breast cancers are from all other breast cancers on all data types. These findings suggest that basal-like breast cancer, while arising in the same anatomical location, is potentially a completely different disease."

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Cancer genome analysis of breast cancer: Team identifies genetic causes and similarity to ovarian cancer

Harvard School of Public Health researchers found that a greater consumption of sugar-sweetened beverages is linked with a greater genetic susceptibility to increased risk of obesity and high body mass index.

The HSPH study, published in the New England Journal of Medicine, reinforced the view that genetic and environmental factors interact to increase obesity risk.

If people have a higher genetic risk for obesity, the effects of obesity will be exaggerated by the sugar-sweetened beverages, said Qibin Qi, a HSPH research fellow and the lead author of the study.

This provides some evidence to people to reduce their intake of sugary beverages, especially for people who are at a high genetic-risk for obesity, he said.

Researchers looked at data from three other large HSPH studies: 121,700 women in the Nurses Health Study, 51,529 men in the Health Professionals Follow-up Study, and 25,000 in the Womens Genome Health Study. Participants completed questionnaires detailing their food and drink consumption over time.

Dr. Qi and his colleagues have been able to do this study in a longitudinal way in this type of analysis, said Ruth J. F. Loos, director of the Genetics of Obesity and Related Metabolic Traits Program at the Mount Sinai School of Medicine. This is a large studyIts very well designed and well presented.

The results indicated that the genetic effects on obesity risk and body mass index among those who drank one or more sugar-sweetened beverages per day were twice as large as those who consumed less than one serving per month.

Its hard to say that its a specific physiological effect of these sugar-sweetened beverages, Loos said. I think its that its an overall unhealthy lifestyle that makes them more genetically susceptible.

Loos said that people who drank more sugar-sweetened beverages were often less active.

They have a poor quality of diet and a high BMI, so you already see that sugar-sweetened beverages are actually maybe just a proxy for these effects.

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HSPH Study Links Sugary Beverages and Genetic Risk of Obesity

NEW YORK Scientists reported Sunday that they have completed a major analysis of the genetics of breast cancer, finding four major classes of the disease. They hope their work will lead to more effective treatments, perhaps with some drugs already in use.

Don't miss these Health stories

Many of us have done it -- checked our phones to read a new text or send a quick tweet as we stroll down the street. While we know we should watch where were going, we think, worst case: well bump into the person in front of us, or trip. But experts are blaming texting and walking on the rising number of pedestrian injuries and deaths among teens.

The new finding offers hints that one type of breast cancer might be vulnerable to drugs that already work against ovarian cancer.

The study, published online Sunday by the journal Nature, is the latest example of research into the biological details of tumors, rather than focusing primarily on where cancer arises in the body.

The hope is that such research can reveal cancer's genetic weaknesses for better drug targeting.

"With this study, we're one giant step closer to understanding the genetic origins of the four major subtypes of breast cancer," Dr. Matthew Ellis of the Washington University School of Medicine said in a statement. He is a co-leader of the research.

"Now we can investigate which drugs work best for patients based on the genetic profiles of their tumors," he said.

The researchers analyzed DNA of breast cancer tumors from 825 patients, looking for abnormalities. Altogether, they reported, breast cancers appear to fall into four main classes when viewed in this way.

One class showed similarities to ovarian cancers, suggesting it may be driven by similar biological developments.

Read more here:
New genetic clues to breast cancer discovered

NEW YORK Scientists reported Sunday that they have completed a major analysis of the genetics of breast cancer, finding four major classes of the disease. They hope their work will lead to more effective treatments, perhaps with some drugs already in use.

Don't miss these Health stories

Many of us have done it -- checked our phones to read a new text or send a quick tweet as we stroll down the street. While we know we should watch where were going, we think, worst case: well bump into the person in front of us, or trip. But experts are blaming texting and walking on the rising number of pedestrian injuries and deaths among teens.

The new finding offers hints that one type of breast cancer might be vulnerable to drugs that already work against ovarian cancer.

The study, published online Sunday by the journal Nature, is the latest example of research into the biological details of tumors, rather than focusing primarily on where cancer arises in the body.

The hope is that such research can reveal cancer's genetic weaknesses for better drug targeting.

"With this study, we're one giant step closer to understanding the genetic origins of the four major subtypes of breast cancer," Dr. Matthew Ellis of the Washington University School of Medicine said in a statement. He is a co-leader of the research.

"Now we can investigate which drugs work best for patients based on the genetic profiles of their tumors," he said.

The researchers analyzed DNA of breast cancer tumors from 825 patients, looking for abnormalities. Altogether, they reported, breast cancers appear to fall into four main classes when viewed in this way.

One class showed similarities to ovarian cancers, suggesting it may be driven by similar biological developments.

Link:
Genetic clues to breast cancer

(AP) NEW YORK Scientists reported Sunday that they have completed a major analysis of the genetics of breast cancer, finding four major classes of the disease. They hope their work will lead to more effective treatments, perhaps with some drugs already in use.

The new finding offers hints that one type of breast cancer might be vulnerable to drugs that already work against ovarian cancer.

The study, published online Sunday by the journal Nature, is the latest example of research into the biological details of tumors, rather than focusing primarily on where cancer arises in the body.

The hope is that such research can reveal cancer's genetic weaknesses for better drug targeting.

"With this study, we're one giant step closer to understanding the genetic origins of the four major subtypes of breast cancer," Dr. Matthew Ellis of the Washington University School of Medicine said in a statement. He is a co-leader of the research.

"Now we can investigate which drugs work best for patients based on the genetic profiles of their tumors," he said.

The researchers analyzed DNA of breast cancer tumors from 825 patients, looking for abnormalities. Altogether, they reported, breast cancers appear to fall into four main classes when viewed in this way.

One class showed similarities to ovarian cancers, suggesting it may be driven by similar biological developments.

"It's clear they are genetically more similar to ovarian tumors than to other breast cancers," Ellis said. "Whether they can be treated the same way is an intriguing possibility that needs to be explored."

The report is the latest from the Cancer Genome Atlas, a federally funded project that has produced similar analyses for brain, colorectal, lung, and ovarian cancers.

Originally posted here:
Breast cancer genetics study dubbed "giant step"

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The rest is here:
Probe sought into status of stem cell therapy in the Philippines

The zebrafish is a major player in the study of vertebrate biology and human disease. Its transparent, externally fertilized eggs, short reproductive cycle and fast growth mean that its embryonic development can be studied closely while the animal is alive, and the fish is a useful model for studying gene behaviour and function.

Now, researchers led by Stephen Ekker, a molecular biologist at the Mayo Clinic in Rochester, Minnesota, have for the first time made custom changes to parts of the zebrafish (Danio rerio) genome, using artificial enzymes to cut portions of DNA out of targeted positions in a gene sequence, and replace them with synthetic DNA. The work is published today in Nature1.

Zebrafish are common model organisms in genetic research. Now their genomes can be custom edited.

B. Bevan/ardea.com

Researchers have previously edited targeted portions of the genomes of living animals using enzymes known as zinc finger nucleases (ZFNs)2, or gene-regulation molecules called morpholinos3. Zebrafish DNA has been adapted by deliberate mutation at targeted locations using ZFNs4 or enzymes called transcription activator-like effector nucleases (TALENs)5, and by manipulation of gene behaviour using morpholinos6. TALENs have also been used for targeted genome editing in cell cultures7, but Ekker and his colleagues are the first to use artificial TALENs for genome editing in live zebrafish larvae.

TALENs have several advantages over ZFNs and morpholinos: they are cheaper, more efficient especially when used in a developed, active form and while ZFNs can only target specific sequences, TALENs have the potential to work on any DNA sequence. And whereas the effects of morpholinos are temporary, TALENs cause permanent modifications. They also allow faster analysis of induced mutations in some cases, the team found, it is possible to observe effects in the injected larvae immediately.

One of the sequences that Ekker and his colleagues inserted into the zebrafish DNA was one that allows genes to be switched on and off. This could enable researchers to examine the effects of a gene both during early development, by turning the mutation on immediately, or later in life, by turning it on when the fish reaches maturity. It is not usually possible to examine the effects of gene alteration in later life, because fish with deliberately mutated genes that affect development often do not survive into adulthood.

The work "opens up the possibility to do many great experiments using zebrafish", says Jason Rihel, a developmental biologist who works with zebrafish at University College London. The ability to directly rewrite native genetic sequences would give us the precise control of genes needed to refine zebrafish models of complex diseases. Such models could be used to probe the behavioural functions of specific brain neurons, or to tease apart the network of signals that orchestrate vertebrate development, he adds.

Ekker says that there will be uses for the TALENs technique in other organisms. Although we focused on zebrafish, there are notable implications for using this same approach in other model systems, including rats, mice, flies and worms, he says. Research using species such as mice currently relies on in vitro modification of stem cells, which are then cultivated into a full mutant adult a method that could not be used to treat diseases in humans.

By contrast, Rihel sees potential for the TALEN technique in humans: To pull just one pie-in-the-sky idea off the top of my head we could potentially use targeted DNA editing in the retina to repair a human blindness gene, for example.

Read more here:
Custom gene editing rewrites zebrafish DNA

Featured Article Academic Journal Main Category: Back Pain Also Included In: Genetics;MRI / PET / Ultrasound Article Date: 23 Sep 2012 - 0:00 PDT

Current ratings for: Gene Flaw Linked To Lower Back Pain

While more research is needed to fully understand the link, the team, from King's College London, hopes the study will lead to new treatments for the condition.

LDD is a common age-related problem: for instance, over a third of women aged 30 to 50 will have at least one degenerate disc in their spine.

When the disc degenerates it becomes dehydrated, loses height, and the vertebrae on either side develop bony growths called osteophytes. As these changes take place, they cause or exacerbate lower back pain.

Back pain is not a well understood condition, despite the fact it "can have a serious impact on people's lives and is one of the most common causes of sickness leave, costing both the NHS and UK economy billions each year," first author, Frances Williams, Senior Lecturer in the Department of Twin Research and Genetic Epidemiology at King's College London, says in a press statement.

In the case of LDD, scientists have for some time believed genes are involved, because up to 4 out of 5 people with LDD inherit the condition.

Williams and colleagues are the first to suggest there is a link between LDD and a gene called PARK2.

They analyzed the MRI scans using a measuring technique they had developed, which they describe in their paper as "a continuous trait based on disc space narrowing and osteophytes growth which is measurable on all forms of imaging (plain radiograph, CT scan and MRI)".

The participant data came from "five cohorts of Northern European extraction each having GWA data imputed to HapMap V.2".

Read the original here:
Gene Flaw Linked To Lower Back Pain

Public release date: 23-Sep-2012 [ | E-mail | Share ]

Contact: Caroline Arbanas arbanasc@wustl.edu 314-286-0109 Washington University School of Medicine

The most comprehensive analysis yet of breast cancer shows that one of the most deadly subtypes is genetically more similar to ovarian tumors than to other breast cancers.

The findings, published online Sept. 23 in Nature, suggest that most basal-like breast tumors and ovarian tumors have similar genetic origins and potentially could be treated with the same drugs, says the study's co-leader Matthew J. Ellis, MD, PhD, the Anheuser-Busch Chair in Medical Oncology at Washington University School of Medicine in St. Louis. The other co-leader is Charles M. Perou, PhD, at the University of North Carolina.

Basal-like tumors account for about 10 percent of all breast cancers and disproportionately affect younger women and those who are African-American.

The new research is part of The Cancer Genome Atlas project, which brings together leading genetic sequencing centers, including The Genome Institute at Washington University, to identify and catalog mutations involved in many common cancers. The effort is funded by the National Institutes of Health (NIH).

"With this study, we're one giant step closer to understanding the genetic origins of the four major subtypes of breast cancer," says Ellis, who treats breast cancer patients at the Siteman Cancer Center at Barnes-Jewish Hospital and Washington University. "Now, we can investigate which drugs work best for patients based on the genetic profiles of their tumors. For basal-like breast tumors, it's clear they are genetically more similar to ovarian tumors than to other breast cancers. Whether they can be treated the same way is an intriguing possibility that needs to be explored."

Currently, for example, basal-like breast tumors often are treated like many other breast cancers, using anthracycline-based chemotherapy. But another of Ellis's studies recently showed that women with basal-like tumors don't benefit from these drugs, which also have severe side effects. At the very least, he says, the new data indicates that clinical trials should be designed to avoid the use of these drugs in basal-like tumors.

As part of the new research, a nationwide consortium of researchers analyzed tumors from 825 women with breast cancer. The scientists used six different technologies to examine subsets of the tumors for defects in DNA, RNA (a close chemical cousin of DNA) and proteins. Nearly 350 tumors were analyzed using all six technologies.

"By tying together those different data sets, we can build a story around the biology of each breast cancer subtype that is dictated by the genome, interpreted by the RNA and played out by the proteins at work inside each tumor," says co-author Elaine Mardis, PhD, co-director of The Genome Institute. "These data can serve as a backdrop for other questions about how particular mutations affect survival or response to certain drugs."

See the original post:
Some deadly breast cancers share genetic features with ovarian tumors

According to Aristotle, only the Pentacosiomedimnoi were eligible for election to high office as archons and therefore only they gained admission into the Areopagus. A modern view affords the same privilege to the hippeis. The top three classes were eligible for a variety of lesser posts and only the Thetes were excluded from all public office.

Depending on how we interpret the historical facts known to us, Solon's constitutional reforms were either a radical anticipation of democratic government, or they merely provided a plutocratic flavour to a stubbornly aristocratic regime, or else the truth lies somewhere between these two extremes.

Solon's reforms can thus be seen to have taken place at a crucial period of economic transition, when a subsistence rural economy increasingly required the support of a nascent commercial sector. The specific economic reforms credited to Solon are these: Fathers were encouraged to find trades for their sons; if they did not, there would be no legal requirement for sons to maintain their fathers in old age. Foreign tradesmen were encouraged to settle in Athens; those who did would be granted citizenship, provided they brought their families with them. Cultivation of olives was encouraged; the export of all other produce was prohibited. Competitiveness of Athenian commerce was promoted through revision of weights and measures, possibly based on successful standards already in use elsewhere, such as Aegina or Euboia or, according to the ancient account but unsupported by modern scholarship, Argos

It is generally assumed, on the authority of ancient commentators that Solon also reformed the Athenian coinage. However, recent numismatic studies now lead to the conclusion that Athens probably had no coinage until around 560 BC, well after Solon's reforms.

Solon's economic reforms succeeded in stimulating foreign trade. Athenian black-figure pottery was exported in increasing quantities and good quality throughout the Aegean between 600 BC and 560 BC, a success story that coincided with a decline in trade in Corinthian pottery. The ban on the export of grain might be understood as a relief measure for the benefit of the poor. However, the encouragement of olive production for export could actually have led to increased hardship for many Athenians since it would have led to a reduction in the amount of land dedicated to grain. Moreover an olive produces no fruit for the first six years. The real motives behind Solon's economic reforms are therefore as questionable as his real motives for constitutional reform. Were the poor being forced to serve the needs of a changing economy, or was the economy being reformed to serve the needs of the poor?

Solon's reform of these injustices was later known and celebrated among Athenians as the Seisachtheia (shaking off of burdens). As with all his reforms, there is considerable scholarly debate about its real significance. Many scholars are content to accept the account given by the ancient sources, interpreting it as a cancellation of debts, while others interpret it as the abolition of a type of feudal relationship, and some prefer to explore new possibilities for interpretation. prohibition on a debtor's person being used as security for a loan. release of all Athenians who had been enslaved.

The removal of the horoi clearly provided immediate economic relief for the most oppressed group in Attica, and it also brought an immediate end to the enslavement of Athenians by their countrymen. Some Athenians had already been sold into slavery abroad and some had fled abroad to escape enslavement Solon proudly records in verse the return of this diaspora. It has been cynically observed, however, that few of these unfortunates were likely to have been recovered. It has been observed also that the seisachtheia not only removed slavery and accumulated debt, it also removed the ordinary farmer's only means of obtaining further credit.

The seisachtheia however was merely one set of reforms within a broader agenda of moral reformation. Other reforms included: the abolition of extravagant dowries. legislation against abuses within the system of inheritance, specifically with relation to the epikleros (i.e. a female who had no brothers to inherit her father's property and who was traditionally required to marry her nearest paternal relative in order to produce an heir to her father's estate). entitlement of any citizen to take legal action on behalf of another. the disenfranchisement of any citizen who might refuse to take up arms in times of civil strife, a measure that was intended to counteract dangerous levels of political apathy.

The personal modesty and frugality of the rich and powerful men of Athens in the city's subsequent golden age have been attested to by Demosthenes. Perhaps Solon, by both personal example and legislated reform, established a precedent for this decorum. A heroic sense of civic duty later united Athenians against the might of the Persians. Perhaps this public spirit was instilled in them by Solon and his reforms. Also see Solon and Athenian sexuality

The literary merit of Solon's verse is generally considered unexceptional. Solon the poet can be said to appear 'self-righteous' and 'pompous' at times and he once composed an elegy with moral advice for a more gifted elegiac poet, Mimnermus. Most of the extant verses show him writing in the role of a political activist determined to assert personal authority and leadership and they have been described by the German classicist Wilamowitz as a "versified harangue" (Eine Volksrede in Versen). According to Plutarch however, Solon originally wrote poetry for amusement, discussing pleasure in a popular rather than philosophical way. Solon's elegiac style is said to have been influenced by the example of Tyrtaeus. He also wrote iambic and trochaic verses which, according to one modern scholar, are more lively and direct than his elegies and possibly paved the way for the iambics of Athenian drama.

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Solon urges Congress to conduct cursory check on the status of stem cell therapy in the country (15966897)

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/lbn9b7/cytology_and_hpv) has announced the addition of the "Cytology and HPV Testing - Global Strategic Business Report" report to their offering.

This report analyzes the worldwide markets for Cytology and HPV Testing in US$ Million. The report provides separate comprehensive analytics for the US, Europe, and Rest of World. Annual estimates and forecasts are provided for the period 2009 through 2018. The report profiles 43 companies including many key and niche players. Market data and analytics are derived from primary and secondary research. Company profiles are primarily based upon search engine sources in the public domain.

Key Topics Covered:

I. INTRODUCTION, METHODOLOGY & PRODUCT DEFINITIONS

II. Executive Summary

1. INDUSTRY OVERVIEW

2. KEY TRENDS AND RESEARCH FINDINGS

3. OVERVIEW OF CYTOLOGY AND HPV TESTING

4. COMMERCIALLY AVAILABLE HPV TESTS

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Research and Markets: Cytology and HPV Testing - 2012 Global Strategic Business Report: US Government Proposes ...

NISKAYUNA, N.Y.--(BUSINESS WIRE)--

Similar to how independent developers create new applications and find new uses for smart phones, tablets and other intelligent devices, GE is looking to collaborate with a rapidly growing community of ultrasound researchers to research new applications using ultrasound devices and microbubbles that could lead to innovative new therapy and diagnostic solutions in health care.

Microbubbles is an emerging area of research investigating microscopic bubbles that are injected into the body to perform contrast-enhanced imaging or deliver drug treatments such as gene therapy to specified targets. After being injected into the body, ultrasound is used as the mechanism to pop the bubbles at the desired destination. GE researchers have been working in this area for some time now. Recognizing the many promising research programs emerging in this space, GE believes it can work with researchers to help accelerate the development of new applications to improve the quality of care.

Michael Idelchik, Vice President of Advanced Technology Programs at GE Global Research, said, To spur innovation in health, traditional players must act in non-traditional ways, especially by working together in new ways to improve outcomes. Innovation doesn't live within borders; it cant be controlled and confined. We need to be more open in how we collaborate. In Ultrasound, we see dozens of promising applications under development by independent researchers. Through the Ultrasound Innovation Circle, we are seeking to connect with this community and collaborate with them to enhance development of these technologies.

Ultrasound Innovation Circle

Under this new open collaboration platform, independent researchers will have access to GE technology and expertise to integrate, test and validate their ideas. This may involve:

Research partnerships with GE will be managed through Research Circle Technology, Inc. (RCT), which is part of GEs Licensing business.

About GE Licensing

GE Licensing accelerates the development of new technology and captures the value of the GE brand globally. In collaboration with GE businesses, GE Licensing invests in opportunities to build creative solutions in GE strategic platforms: healthymagination and ecomagination. Research Circle Technology (RCT) is a part of GE Licensing that combines our expertise in intellectual property and licensing partnerships with GE Global Researchs world-class research and technology. RCTs focus is to enable innovation through collaborative relationships with leading researchers. For more information on GE Licensing, visit http://www.gelicensing.com.

About GE Global Research

Originally posted here:
GE Launches Open Innovation Initiative to Accelerate Ultrasound Research

Photo by Larry Steagall

Jan Holderbach of Bremerton stands during the singing of the National Anthem before the start of the 2012 Kitsap Peninsula Walk to End Alzheimer's at Evergreen- Rotary Park on Saturday. She was their to support her dad Jim Wenzl who suffers from the disease. LARRY STEAGALL | KITSAP SUN

Photo by Larry Steagall

Doug Whitney of Port Orchard (right)possesses a rare gene mutation that causes early on-set Alzheimer's. At age 62, he hasn't shown any signs of the disease that's killed 10 of 14 family members from his mom's side. Whitney and his wife, Ione, left, walked in Saturday's Kitsap Peninsula Walk to End Alzheimer's from Evergreen- Rotary Park in Bremerton. LARRY STEAGALL | KITSAP SUN

Photo by Larry Steagall

Alejandra Gutierrez of Poulsbo signs a promise garden flower before the start of the 2012 Kitsap Peninsula Walk to End Alzheimer's at Evergreen-Rotary Park on Saturday. A blue flower signified the person has Alzheimer's, a yellow flower that the person supports or cares for someone with Alzheimer's, and purple that the person has lost someone with Alzheimer's. LARRY STEAGALL | KITSAP SUN

Photo by Larry Steagall

Leann Maxim of Bremerton (left) and her mom Susan Steelman enjoy the music before the start of the 2012 Kitsap Peninsula Walk to End Alzheimer's at Evergreen-Rotary Park on Saturday. LARRY STEAGALL / KITSAP SUN

Photo by Larry Steagall

Marge Wenzl of Bremerton pushes her husband Jim, who suffers from Alzheimer's, in the 2012 Kitsap Peninsula Walk to End Alzheimer's at Evergreen- Rotary Park on Saturday. LARRY STEAGALL / KITSAP SUN

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Port Orchard family battles Alzheimer's gene with optimism and openness

Every time a woman is tested for gene mutations linked to significantly higher rates of breast and ovarian cancer, her blood is sent to a lab in Utah.

That's because Salt Lake City-based Myriad Genetics Inc. owns the patents to the BRCA 1 and BRCA 2 mutations, giving it control over all research and testing done nationwide. The company charges thousands of dollars for each set of results.

The patents have become the subject of a legal fight that could soon head to the U.S. Supreme Court and have sparked a broader discussion about the fast-evolving field of genomics and so-called personalized medicine, in which treatments are tailored based on a patient's genetic makeup.

Scientists, lawyers and bioethicists say the outcome of the legal and ethical debate could impact research and patient care.

Civil libertarians and patent opponents object to companies claiming they have invented what nature has wrought and contend that such patents hinder life-saving research. Corporate patent owners say their scientific ingenuity is needed to isolate the genes and that research could stall without the protection of patents.

"If I want to look at the data in my genome from the computer in my basement or wherever, I should be able to or my doctor should be able to tell me," said Jeffrey Kahn, professor of bioethics and public policy at the Johns Hopkins University's Berman Institute of Bioethics. "But the standard argument is that if we don't respect patents, there will be less incentive to do research and development. There is a collision course coming."

The potential implications are staggering, given that what's at stake is control over basic biological units of heredity.

Corporations and scientists hold patents on 20 percent of the human genome and could limit what doctors study and share when it comes to protected gene sequences linked to Alzheimer's disease, Huntington's disease and colorectal cancer, among other illnesses. Patents give owners rights to the intellectual property for at least 17 to 20 years.

The BRCA 1 and BRCA 2 mutations are responsible for most hereditary ovarian and breast cancers. Many women with the mutations take extreme preventive measures, such as breast and ovary removal. While hereditary versions of the disease are a small percentage of total cases, the mutations increase breast cancer risk by 82 percent and ovarian cancer risk by 44 percent.

The American Civil Liberties Union originally brought a lawsuit against Myriad Genetics in 2009 on behalf of about 20 scientific organizations and patients, and a panel of the U.S. Court of Appeals for the Federal Circuit in Washington upheld the patents earlier this month the second decision in the company's favor. The Supreme Court had asked the court to reconsider its initial ruling last year.

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Gene patent case could impact patients, research

By Shannon Pettypiece - 2012-09-22T04:01:00Z

Sugary soda may increase the effect of genes putting people at risk for obesity, according to one of several studies analyzing how the drinks influence weight gain.

People genetically predisposed to obesity were more likely to gain weight from the beverages than those without the traits, according to the study, published yesterday in an New England Journal of Medicine edition that focused on the issue. Other research showed that sports drinks were associated with added pounds among adolescents and that switching to a diet soda from a sugary one may help kids control their weight.

One in three U.S. adults and 17 percent of children are obese. Sugary beverages are the largest single caloric food source in the country, according to an editorial that accompanied the studies. This month, New York City limited the cup size that restaurants can use for sugary drinks and schools nationwide have banned the beverages.

It is important to begin to create publishable studies to support what everyone knows, said Steven Safyer, chief executive officer of Montefiore Medical Center in New York, who has worked to curb obesity. We are in the eighth inning of the worst public health crisis that we have encountered in decades.

Obesity costs the country about $147 billion a year in health-care expenses, according to the Centers for Disease Control and Prevention. If the U.S. stays on the current course, it could increase health costs $66 billion a year by 2030, according to a report earlier this week by the Trust for Americas Health and Robert Wood Johnson Foundation.

Safyer said soda is particularly harmful when it comes to obesity because it doesnt make people feel full, eliminating the normal triggers that stop people from eating.

Parents should also be concerned about sports drinks, said Alison Field, an associate professor in epidemiology at the Harvard School of Public Health and an associate in medicine at Childrens Hospital Boston. Teenagers gained about 3.5 pounds more than their peers for each sports drink they consumed daily, according to research Field presented yesterday at the annual meeting of the Obesity Society in San Antonio, Texas.

I dont think all parents realize sports drinks are unhealthy, Field said. Im a marathon runner, even I dont consume 32 ounces of sports drinks when Im running 26 miles.

The study, funded with a grant from the National Institutes of Health, relied on self-reported surveys from about 10,000 boys and girls ages 9 to 16, taken every two years beginning in 2004. Fields findings looked at results in a smaller set of about 4,000 of the oldest teenagers from 2008 to 2011.

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Sugary Drinks Linked to Increased Genetic Risk of Obesity

Public release date: 21-Sep-2012 [ | E-mail | Share ]

Contact: Todd Datz tdatz@hsph.harvard.edu 617-432-8413 Harvard School of Public Health

Researchers from Harvard School of Public Health have found that greater consumption of sugar-sweetened beverages (SSBs) is linked with a greater genetic susceptibility to high body mass index (BMI) and increased risk of obesity. The study reinforces the view that environmental and genetic factors may act together to shape obesity risk.

The study appears September 21, 2012 in an advance online edition of the New England Journal of Medicine.

"Our study for the first time provides reproducible evidence from three prospective cohorts to show genetic and dietary factorssugar-sweetened beveragesmay mutually influence their effects on body weight and obesity risk. The findings may motivate further research on interactions between genomic variation and environmental factors regarding human health," said Lu Qi, assistant professor in the Department of Nutrition at HSPH and senior author of the study.

In the past three decades, consumption of SSBs has increased dramatically worldwide. Although widespread evidence supports a link between SSBs, obesity and chronic diseases such as diabetes, there has been little research on whether environmental factors, such as drinking sugary beverages, influence genetic predisposition to obesity.

The research was based on data from three large cohorts, 121,700 women in the Nurses' Health Study, 51,529 men in the Health Professionals Follow-up Study and 25,000 in the Women's Genome Health Study. All of the participants had completed food-frequency questionnaires detailing their food and drink consumption over time.

The researchers analyzed data from 6,934 women from NHS, 4,423 men from HPFS, and 21,740 women from WGHS who were of European ancestry and for whom genotype data based on genome-wide association studies were available. Participants were divided into four groups according to how many sugary drinks they consumed: less than one serving of SSB per month, between 1-4 servings per month, between 2-6 servings per week, and one or more servings per day. To represent the overall genetic predisposition, a genetic predisposition score was calculated on the basis of the 32 single-nucleotide polymorphisms known to be associated with BMI (weight in kilograms divided by the square of the height in meters).

The results showed that the genetic effects on BMI and obesity risk among those who drank one or more SSBs per day were about twice as large as those who consumed less than one serving per month. The findings suggest that regular consumption of sugary beverages may amplify the genetic risk of obesity. In addition, individuals with greater genetic predisposition to obesity appear to be more susceptible to harmful effects of SSBs on BMI. "SSBs are one of the driving forces behind the obesity epidemic," says Frank Hu, professor of nutrition and epidemiology at HSPH and a coauthor of this study. "The implication of our study is that the genetic effects of obesity can be offset by healthier food and beverage choices."

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Regular consumption of sugary beverages linked to increased genetic risk of obesity

AMES, Iowa, Sept. 21, 2012 (GLOBE NEWSWIRE) -- NewLink Genetics (NLNK) announced today that it will begin an investigator initiated, randomized, double blind placebo controlled Phase 2 study entitled "Phase II Study of sipuleucel-T (PROVENGE(R)) plus indoximod (D-1MT/NLG8189) in the treatment of patients with asymptomatic or minimally symptomatic metastatic hormone refractory prostate cancer." This study is done in collaboration with Dendreon Corporation (DNDN) and the Masonic Cancer Center, University of Minnesota.

Dr. Gautam Jha, assistant professor of medicine at the University of Minnesota will lead this multicenter study with a planned enrollment of 50 patients. Men with hormone refractory metastatic prostate cancer, eligible for therapy with sipuleucel-T (PROVENGE) will be enrolled to evaluate the safety and efficacy of the combination of NewLink's indoximod with Dendreon's PROVENGE.

"We are excited with the opportunity to explore potential benefits of combining our indoximod immuno-modulatory product candidate with PROVENGE, the first FDA-approved active cellular immunotherapy product for cancer," said Dr. Nick Vahanian, President and Chief Medical Officer of NewLink Genetics.

About indoximod and inhibition of the IDO pathway

IDO pathway inhibitors, including indoximod, represent a potential breakthrough approach to cancer therapy using small-molecule, anti-toleragenic product candidates intended to counteract a key mechanism by which tumors evade immune-mediated destruction. IDO is an enzyme that regulates immune response by suppressing T-cell function and enabling local tumor immune escape. Recent studies have demonstrated that IDO is overexpressed in many cancers, within both tumor cells as a direct defense against T-cell attack, and also within antigen presenting cells in tumor draining lymph nodes whereby IDO promotes peripheral tolerance to tumor associated antigens (TAAs). When hijacked by developing cancers in this manner, IDO may facilitate the survival, growth, invasion, and metastasis of malignant cells expressing TAAs that might otherwise be recognized and attacked by the immune system as foreign. Indoximod is currently in multiple Phase 1B/2 studies evaluating the addition of indoximod to Taxotere in the treatment of breast cancer and the addition of indoximod to an autologous P-53 Denritic Cell vaccine, also in the treatment of breast cancer patients. In addition to its clinical indoximod product candidate, NewLink has an active program directed at synthesizing other IDO pathway inhibitors.

PROVENGE Indication and Safety

PROVENGE is an autologous cellular immunotherapy indicated for the treatment of asymptomatic or minimally symptomatic metastatic castrate resistant (hormone refractory) prostate cancer.

PROVENGE is intended solely for autologous use and is not routinely tested for transmissible infectious diseases.

The safety evaluation of PROVENGE was based on 601 prostate cancer patients in four randomized clinical trials who underwent at least one leukapheresis. The most common adverse events (incidence greater-than or equal to 15%) were chills, fatigue, fever, back pain, nausea, joint ache, and headache. Serious adverse events reported in the PROVENGE group included acute infusion reactions (occurring within 1 day of infusion) and cerebrovascular events. In controlled clinical trials, severe (Grade 3) acute infusion reactions were reported in 3.5% of patients in the PROVENGE group. Reactions included chills, fever, fatigue, asthenia, dyspnea, hypoxia, bronchospasm, dizziness, headache, hypertension, muscle ache, nausea, and vomiting. No Grade 4 or 5 acute infusion reactions were reported in patients in the PROVENGE group.

To fulfill a post marketing requirement and as a part of the company's ongoing commitment to patients, Dendreon will conduct a registry of approximately 1500 patients to further evaluate a small potential safety signal of cerebrovascular events. In four randomized clinical trials of PROVENGE in prostate cancer patients, cerebrovascular events were observed in 3.5% of patients in the PROVENGE group compared with 2.6% of patients in the control group.

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NewLink Announces an Investigator Initiated Phase 2 Study of Sipuleucel-T Plus Indoximod in the Treatment of Certain ...

Public release date: 21-Sep-2012 [ | E-mail | Share ]

Contact: Dr. Hilary Glover hilary.glover@biomedcentral.com 44-020-319-22370 BioMed Central

Lithium is a 'gold standard' drug for treating bipolar disorder, however not everyone responds in the same way. New research published in BioMed Central's open access journal Biology of Mood & Anxiety Disorders finds that this is true at the levels of gene activation, especially in the activation or repression of genes which alter the level the apoptosis (programmed cell death). Most notably BCL2, known to be important for the therapeutic effects of lithium, did not increase in non-responders. This can be tested in the blood of patients within four weeks of treatment.

A research team from Yale University School of Medicine measured the changing levels of gene activity in the blood of twenty depressed adult subjects with bipolar disorder before treatment, and then fortnightly once treatment with lithium carbonate had begun.

Over the eight weeks of treatment there were definite differences in the levels of gene expression between those who responded to lithium (measured using the Hamilton Depression Rating Scale) and those who failed to respond. Dr Robert Beech who led this study explained, "We found 127 genes that had different patterns of activity (turned up or down) and the most affected cellular signalling pathway was that controlled programmed cell death (apoptosis)."

For people who responded to lithium the genes which protect against apoptosis, including Bcl2 and IRS2, were up regulated, while those which promote apoptosis were down regulated, including BAD and BAK1.

The protein coded by BAK1 can open an anion channel in mitochondrial walls which leads to leakage of mitochondrial contents and activation of cell death pathways. Damage similar to this has been seen within the prefrontal cortex of the brain of patients with bipolar disorder. BAD protein is thought to promote BAK1 activity, while Bcl2 binds to BAK1 and prevents its ability to bind to the channel.

Dr Beech continued, "This positive swing in regulation of apoptosis for lithium responders was measurable as early as four weeks after the start of treatment, while in non-responders there was a measureable shift in the opposite direction. It seems then, that increased expression of BCL2 and related genes is necessary for the therapeutic effects of lithium. Understanding these differences in genes expression may lead towards personalized treatment for bipolar disorder in the future."

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Media Contact

Continued here:
Giving lithium to those who need it

21 September 2012 Last updated at 08:48 ET

Scientists have identified a gene flaw linked to disc problems that are a common cause of lower back pain.

The UK study, published in the Annals of Rheumatic Diseases, looked at 4,600 people and found the PARK2 gene was linked to age-related disc problems.

A third of middle-aged women have problems with at least one spinal disc - and the condition is known to be inherited in up to 80% of patients.

Experts said finding the gene could lead to new treatments being developed.

Back pain costs the UK about 7bn a year in sickness leave and treatment costs, but the causes of the condition are not fully understood.

In lumbar disc degeneration (LDD), discs become dehydrated and lose height, and the vertebrae next to them develop bony growths called osteophytes, leading to lower back pain.

The King's College London researchers carried out MRI scans of all those in the study and looked at differences in their genetic make-up.

They found variants of the PARK2 gene appeared to have an effect in people with degenerate discs and influence the speed at which their condition deteriorated.

The researchers, funded by the Wellcome Trust and Arthritis Research UK, say more research is now needed to find out how the gene influences the condition.

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Gene flaw linked to low back pain

April Flowers for redOrbit.com Your Universe Online

Thousands of years ago, a genetic mutation occurred which might be the answer to how early humans were able to move from central Africa and across the continent. This movement has been called the great expansion.

Three teams of researchers, from Wake Forest Baptist Medical Center, Johns Hopkins University School of Medicine and University of Washington School of Medicine, have analyzed genetic sequence variation patterns in different populations around the world. Their research, published this week in the online journal PLoS One, demonstrates that about 85,000 years ago, a critical genetic variant arose in a key gene cluster on chromosome 11, known as the fatty acid desaturase cluster (FADS).

This genetic variant would have allowed humans to convert plant-based polyunsaturated fatty acids (PUFAs) to brain PUFAs. The long-chain of PUFAs found in the brain are necessary for increased brain size, complexity and function, and the FADS cluster plays a critical role in determining how effectively medium-chain PUFAs in plants are converted.

According to archeological and genetic studies, Homo sapiens appeared approximately 180,000 years ago. For almost 100,000 years, our early ancestors tended to stay in one location close to bodies of water in central Africa. Scientists have hypothesized that this location was critical because early humans needed large amounts of the long-chain PUFA docosahexaenoic acid (DHA) commonly found in fish and shellfish in order to support complex brain function.

This may have kept early humans tethered to the water in central Africa where there was a constant food source of DHA, explained Dr. Floyd Chilton, director of the Center for Botanical Lipids and Inflammatory Disease Prevention at Wake Forest Baptist.

There has been considerable debate on how early humans were able to obtain sufficient DHA necessary to maintain brain size and complexity. Its amazing to think we may have uncovered the region of genetic variation that arose about the time that early humans moved out of this central region in what has been called the great expansion.

Under the intense pressure of natural section, this new trait was able to spread rapidly throughout the entire Homo sapiens population on the African continent.

The power of genetics continually impresses me, and I find it remarkable that we can make inferences about things that happened tens of thousands of years ago by studying patterns of genetic variation that exist in contemporary populations, said Dr. Joshua M. Akey from the University of Washington.

The most important result of this conversion was that humans no longer had to rely on just one food source, fish, for brain growth and development. This was particularly important because the genetic variant arose before organized hunting and fishing could have provided more reliable sources of long-chain PUFAs.

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New Studies On Genetic Variations Offer Insights Into Origins Of Man