Public release date: 28-May-2013 [ | E-mail | Share ]

Contact: Shawna Williams shawna@jhmi.edu 410-955-8236 Johns Hopkins Medicine

Using a novel method of analyzing genetic variations in families, researchers at Johns Hopkins have found that individually harmless genetic variations affecting related biochemical processes may team up to increase the risk of schizophrenia. They say their findings, reported May 28 in Translational Psychiatry, bring some clarity to the murky relationship between genetics and schizophrenia, and may lead to a genetic test that can predict which medications will be effective for individual patients.

"It's long been clear that schizophrenia runs in families, but schizophrenia as a simple inherited disease didn't make sense from an evolutionary point of view because people with the disease tend to have fewer children and the disease-causing genetic variants shouldn't survive," says Dimitri Avramopoulos, M.D., Ph.D., an associate professor of psychiatry in the McKusick-Nathans Institute of Genetic Medicine. Moreover, he says, studies searching for schizophrenia-linked gene variants have found only weak connections to a few genes nothing that would explain the persistent prevalence of the disease, which affects about 1 percent of the population.

Most geneticists believe that the culprit in so-called complex genetic diseases such as schizophrenia is not just one genetic variant, but more than one acting in concert. It's also likely that individual cases of the disease are caused by different combinations of variants, Avramopoulos says. He and fellow researchers took this hypothesis a step further, theorizing that while our bodies can usually compensate for one faulty gene that affects a particular system, more than one hit to the same system is likely to tip people toward disease.

The research team devised a technique for analyzing gene-sequencing data that explores whether variants cluster in a subset of cases in a non-random way. After finding support for their hypothesis in previously obtained data on 123 families with at least two schizophrenia-affected members, they decided to sequence genes connected through a biochemical chain reaction that has been linked to the disease in 48 inpatients. Known as the neuregulin signaling pathway, that chain reaction relays signals within the nervous system.

As they had predicted, the researchers found that some of the families had multiple neuregulin signaling-related variants while others had none, a distribution that was highly unlikely to result from chance. Moreover, the schizophrenia patients with neuregulin signaling variants experienced more hallucinations but less impairment than the other schizophrenia patients in the study.

"These results support the idea that there's no single genetic recipe for schizophrenia, but that a buildup of mutations in a pathway related to the disease like neuregulin signaling can be the culprit," Avramopoulos says. "The results are also evidence for the current theory that schizophrenia isn't a single disease at all, but a suite of related disorders." Those patients in the study who did not have neuregulin signaling-related variants likely carried variants in a different pathway instead, he notes.

While the results of the study were surprisingly clear-cut given the small number of families in the study, Avramopoulos cautions that larger studies are needed to confirm the results before drawing any firm conclusions. He also plans to study the exact roles of the schizophrenia-linked variants the team identified. Finally, the encouraging results mean it would be worthwhile to apply the new analytic method to other common diseases, such as diabetes and heart disease, which also appear to have complex genetic roots.

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Family studies suggest rare genetic mutations team up to cause schizophrenia

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MATURE GENETICS
ART MUSIC VIDEO.

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RACING PIGEON EYE SELECTION 1
WHAT TO LOOK FOR IN THE EYE..RACING PIGEON SELECTION AND PAIRING MADE EASY REMEMBER 1ST GENETICS ,2ND GENETICS,3RD GENETICS AND THEN COME THE REST.

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RACING PIGEON EYE SIGN-THE GREEN EYE
HOW TO LOOK FOR THE GREEN EVERYBODY IS TALKING ABOUT. WHAT TO LOOK FOR IN THE EYE..RACING PIGEON SELECTION AND PAIRING MADE EASY REMEMBER 1ST GENETICS ,2ND G...

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VetRegen stem cell therapy.
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Stem Cell Therapy A New Investigational Approach To Arthritis Relief
http://www.innovationsstemcellcenter.com 214.699.6948.

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Brodie Before After Stemlogix Stem Cell Therapy
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May 27 2013

Five stroke victims have shown small signs of recovery following pioneering stem cell therapy.

Prof Keith Muir, of Glasgow University, said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving.

The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes.

Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand.

"I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said."It still feels fairly weak and it's still a wee bit difficult to co-ordinate, but it's much better than it was." He added: "I'd like to get back to playing my piano."

His wife Claire said: "He had reached a plateau and wasn't really improving (after his stroke). But following the operation he is able to do things he couldn't do before, such as make coffee, dressing and holding on to things."

The study involved patients who suffered strokes some time ago and had shown no signs of making any further spontaneous improvement.

Prof Muir said the results were "at the present time not what we would have expected in this group but far from being able to say whether it's something specifically related to the cells".

He told BBC Radio 4's Today programme: "We know that some of the cells will survive and potentially turn into relevant tissue. We also suspect that a large part of what we do is kick-starting repair processes that are already present in the body. So there's probably a mixture of things going on. Quite what it is that's happening in the patients, we won't know for some time to come."

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UK & World News: Stem cell therapy 'shows results'

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Five stroke victims have shown small signs of recovery following pioneering stem cell therapy.

Prof Keith Muir, of Glasgow University, said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving.

The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes.

Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand.

"I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said."It still feels fairly weak and it's still a wee bit difficult to co-ordinate but it's much better than it was."He added: "I'd like to get back to playing my piano."

His wife Claire said: "He had reached a plateau and wasn't really improving (after his stroke). But following the operation he is able to do things he couldn't do before, such as make coffee, dressing, and holding on to things."

The study involved patients who suffered strokes some time ago and had shown no signs of making any further spontaneous improvement.

Prof Muir said the results were "at the present time not what we would have expected in this group but far from being able to say whether it's something specifically related to the cells".

He told BBC Radio 4's Today programme: "We know that some of the cells will survive and potentially turn into relevant tissue. We also suspect that a large part of what we do is kick-starting repair processes that are already present in the body.

"So there's probably a mixture of things going on. Quite what it is that's happening in the patients, we won't know for some time to come."

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Stroke victims show signs of recovery following pioneering stem cell therapy

Recommendation and review posted by Bethany Smith

Five stroke victims have shown small signs of recovery following pioneering stem cell therapy.

Prof Keith Muir, of Glasgow University, said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving.

The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes.

Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand.

"I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said."It still feels fairly weak and it's still a wee bit difficult to co-ordinate, but it's much better than it was." He added: "I'd like to get back to playing my piano."

His wife Claire said: "He had reached a plateau and wasn't really improving (after his stroke). But following the operation he is able to do things he couldn't do before, such as make coffee, dressing and holding on to things."

The study involved patients who suffered strokes some time ago and had shown no signs of making any further spontaneous improvement.

Prof Muir said the results were "at the present time not what we would have expected in this group but far from being able to say whether it's something specifically related to the cells".

He told BBC Radio 4's Today programme: "We know that some of the cells will survive and potentially turn into relevant tissue. We also suspect that a large part of what we do is kick-starting repair processes that are already present in the body. So there's probably a mixture of things going on. Quite what it is that's happening in the patients, we won't know for some time to come."

The stem cells were created 10 years ago from one sample of nerve tissue taken from a foetus.

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Stem cell therapy 'shows results'

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May 26, 2013

A new gene associated with a form of congenital heart disease in new born babies known as 'a hole in the heart' has been discovered by researchers funded by us.

Scientists from across the world, led by BHF Professor of Cardiology Bernard Keavney, have analysed the genes of over 2,000 people with congenital heart disease to find specific genes linked to the condition.

Congenital heart disease affects about 1 in every 145 births. The researchers found a particular gene closely associated with one of the most common forms an atrial septal defect where there is a 'hole' between the atria, the two chambers at the top of the heart.

Dr Shannon Amoils, our Senior Research Advisor, said: Weve made great strides in treating congenital heart disease; most babies born with a heart defect have a much brighter future now than they would have had in the 1960s when the BHF was founded. But we still need to fund much more research like this, to better understand the fundamental causes of congenital heart defects.

These important results show how large collaborative studies are incredibly useful for uncovering the influence of our genes on congenital heart disease. As researchers continue to identify other associated genes, we will be able to better predict the chances of children being born with heart problems, and will also learn more about the underlying processes that can go wrong in the developing heart.

Breakthroughs like this are made possible thanks to our supporters.Donate today tohelp us continue the fight for every heartbeat.

The discovery was published in the journal Nature Genetics.

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New gene discovery

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Dr Matthew Hurles, who is leading the project, said: "This study will fundamentally change our understanding of how genetics causes these severe developmental disorders.

"That will undoubtedly impact on diagnosing them, and over the next few decades it will be the foundation for how we will end up treating them."

Although each condition may only affect a handful of children, there are hundreds of developmental disorders which are currently unknown to science affecting thousands of babies born each year.

Errors in the children's genes prevent them from developing normally, with common symptoms including learning or behavioural difficulties, birth defects such as cleft lip or extra fingers or toes, or growth problems.

Doctors still do not understand why most developmental disorders occur, meaning they are unable to tell the patient or their family why the condition has arisen.

In some cases the genetic error is inherited from one or other parent meaning they may be at risk of having another child with the same condition while in others it arises for the first time in the child.

The research drive was launched ahead of David Cameron's announcement in December that 100,000 NHS patients will have their entire genome sequenced within the next three years in a bid to transform care for patients with cancer and rare diseases.

Having such a vast database will allow doctors a greater understanding of how a patient's DNA can cause disease and influence the way they respond to different treatments, leading towards a future goal of tailored treatment, he said.

Speaking at the time of the announcement Mr Cameron said: "By unlocking the power of DNA data, the NHS will lead the global race for better tests, better drugs and above all better care."

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Gene screening to 'fundamentally change' understanding of childhood disorders

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May 27, 2013 New gene discovery for babies born with hole in the heart A new gene associated with a form of congenital heart disease in newborn babies -- known as "a hole in the heart" has been discovered by researchers. British Heart Foundation (BHF) Professor Bernard Keavney, from The University of Manchester and Newcastle University, led the research which saw investigators from Newcastle, Nottingham, Oxford and Leicester universities in the UK, together with colleagues in Europe, Australia and Canada pool resources.

The discovery, published in Nature Genetics today, will help lead to better understanding of why some patients are born with the disorder. Congenital heart disease (CHD) is the most common form of congenital malformation, occurring in seven in 1000 babies born and is one of the major causes of childhood death and illness. Most patients born with CHD now survive to adulthood, so identifying the responsible genes is important as experts attempt to provide individual-specific genetic counselling for these people.

In about 20% of cases, a predisposing cause can be identified, for example Down's Syndrome, but in the remainder of patients, although genes are recognised to be important, scientists do not know the identity of these genes. The study, funded by the BHF and the Wellcome Trust, looked at over 2,000 CHD patients and measured over 500,000 genetic markers which vary in the general population. The genetic markers in the patients were compared to the markers of over 5,600 people in good health who acted as a control group.

The researchers found a relationship between a particular region of the human genome and risk of atrial septal defect (ASD) -- a "hole" between the heart's blood-collecting chambers, which they went on to confirm in additional cases of atrial septal defect and healthy controls. BHF Professor Keavney, Director of the Institute of Cardiovascular Sciences at The University of Manchester, said identifying a gene associated with one type of CHD was an important step forward. "We found that a common genetic variation near a gene called Msx1 was strongly associated with the risk of a particular type of CHD called atrial septal defect or hole in the heart," he said. "ASD is one of the most common forms of congenital heart disease, and it carries a risk of heart failure and stroke. We estimated that around 10% of ASDs may be due to the gene we found. We can now work to find out how Msx1 and/or its neighbour genes affect the risk of ASD."

Researchers looked at all the major types of congenial heart disease (CHD), but they did not find a genetic marker common in all types of CHD. Professor Keavney added: "Our work also suggests that if we conduct larger studies we will be able to find genes that cause other types of CHD. Although we are not there yet, further studies may enable us to give better genetic counselling to high risk families. Also, when we identify genes important in the development of the heart because they have gone wrong, it helps us understand normal development better. Such an understanding is fundamental to any attempt to treat people with heart disease at any age -- for example those suffering from heart failure -- using regenerative medicine." Dr Shannon Amoils, Senior Research Advisor at the BHF, which part-funded the study, said: "We've made great strides in treating congenital heart disease; most babies born with a heart defect have a much brighter future now than they would have had in the 1960s when the BHF was founded. But we still need to fund much more research like this, to better understand the fundamental causes of congenital heart defects. "These important results show how large collaborative studies are incredibly useful for uncovering the influence of our genes on congenital heart disease.

As researchers continue to identify other associated genes, we will be able to better predict the chances of children being born with heart problems, and will also learn more about the underlying processes that can go wrong in the developing heart."

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New gene discovery for babies born with hole in the heart

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B3g Cloning, Genetic engineering, Selective breeding revsion video

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Be careful what you wish for: Dr. Roey Tzezana at TEDxKibbutzimCollegeofEducation
In his research Dr. Tzezana examines future aspects of human enhancement, nano-technology, genetic engineering, and other disruptive technologies. He #39;s also a magician and a father. powered...

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Tomorrow People: Genetic Engineering
I wonder how much GM e-coli is inside the average soda pop can these days..? Spooky! The Tomorrow People, Hitler #39;s Last Secret, 1978, Thames Television Fair ...

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Unzeen (music) - Genetic Engineering

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Newswise A simpler and faster way of producing designer bacteria used in biotechnology processes has been developed by University of Adelaide researchers.

The researchers have developed a new one-step bacterial genetic engineering process called clonetegration, published in the journal ACS Synthetic Biology.

Led by Dr Keith Shearwin, in the Universitys School of Molecular and Biomedical Sciences, the research facilitates faster development of designer bacteria used in therapeutic drug development, such as insulin, and other biotechnology products.

Designer bacteria are produced by integrating extra pieces of genetic material into the DNA of bacteria, in this case E. coli, so that the bacteria will make a desired product.

E. coli strains are commonly used workhorses for biotechnology and metabolic engineering, Dr Shearwin says.

For example, new genes or even the genetic material for whole metabolic pathways are inserted into the bacterias chromosome so that they produce compounds or proteins not normally produced. Insulin is an example of a therapeutic product produced in this way.

The existing process for integrating new genes is inefficient, taking several days. Our new process can be completed overnight.

As well as speeding up the process, clonetegration enables multiple rounds of genetic engineering on the same bacteria, and simultaneous integration of multiple genes at different specific locations.

This will become a valuable technique for facilitating genetic engineering with sequences that are difficult to clone as well as enable the rapid construction of synthetic biological systems, Dr Shearwin says.

The research was a collaboration with Stanford University, California. The molecular tools needed for the clonetegration process will be made freely available for ongoing research and development.

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Doctors who sequence a patients full set of genes for any medical reason should look for two dozen unrelated genetic conditions and tell the individual if they find any of them lurking in the DNA, according to a long-awaited report led by a medical geneticist from Boston.

Released Thursday morning, the recommendation by an organization of genetics specialists is the first real effort to delineate how broadly testing laboratories should look for additional potential genetic problems, and the specific information that doctors should tell patients.

Should patients whose genome is sequenced to help diagnose a cardiac condition be tested for a gene that predisposes them to later develop breast cancer, or one that will cause them to have a life-threatening reaction to anesthesia?

Yes, the new guidelines suggest, even if that person is a child.

The guidelines were issued as rapid technology advances have made whole-genome sequencing cheaper and fasterenough so that genetics specialists predict that within a few years, it will be a routine part of patient care.

Im pretty proud of this, as the first response by an organized medical body to the completely revolutionary aspects of using whole genome sequencing in the practice of medicine, said Dr. Robert C. Green, a medical geneticist at Brigham and Womens Hospital and Harvard Medical School. He co-led the group that winnowed the list from 90 genetic risk factors to a minimum of 24 that should be searched for in routine testing. You simply cant do business as usual, once this [technology] is scaled up and is affordable, and is part of everyones medical care.

All of the genetic conditions on the list, approved in a vote late Tuesday afternoon by the board of the American College of Medical Genetics and Genomics, are rare. They are a diverse set of conditions, causing predisposition to heart conditions or cancer, and the group focused only on conditions where the knowledge of having a particular gene could be used to prevent or treat a condition.

Physicians and bioethicists had mixed reactions to the recommendations, which were hammered out over weekly 90-minute conference calls over the course of a year and reviewed by 15 outside experts. Most commended the bold effort to establish some ground rules and principles for how to deal with the vast amount of information in the genome, even as they raised concernsespecially about whether patients should have a choice in what they want to be told about their genes.

Were in a transitional time, where a lot of the knowledge of the genome is not yet available, in the sense we have the sequence, but we dont know what its meaning is for large swaths of the genome, said Dr. Isaac Kohane, chair of the informatics program at Boston Childrens Hospital. He anticipated the problem of sequencing turning up unexpected findings in the genome, and in 2006 coined the term Incidentalome to describe the problem.

For example, he said, the list includes mutations in two genesBRCA1 and BRCA2that dramatically increase risk of breast and ovarian cancer in women with a family history of the disease. The problem, he said, is that the risks such mutations confer are far less well understood in the general population. Since the preventive action women could choose to take is extremesurgery to remove their breasts or ovariesproviding the information could be fraught, especially because many physicians do not have enough grounding in genetics and there will not be enough genetic counselors.

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Controversial guidelines suggest patients should be informed what risks lurk in their DNA

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May 27, 2013 Researchers at the Stanford University School of Medicine have identified mutations in several new genes that might be associated with the development of spontaneously occurring cases of the neurodegenerative disease known as amyotrophic lateral sclerosis, or ALS. Also known as Lou Gehrig's disease, the progressive, fatal condition, in which the motor neurons that control movement and breathing gradually cease to function, has no cure.

Although researchers know of some mutations associated with inherited forms of ALS, the majority of patients have no family history of the disease, and there are few clues as to its cause. The Stanford researchers compared the DNA sequences of 47 patients who have the spontaneous form of the disease, known as sporadic ALS, with those of their unaffected parents. The goal was to identify new mutations that were present in the patient but not in either parent that may have contributed to disease development.

Several suspects are mutations in genes that encode chromatin regulators -- cellular proteins that govern how DNA is packed into the nucleus of a cell and how it is accessed when genes are expressed. Protein members of one these chromatin-regulatory complexes have recently been shown to play roles in normal development and some forms of cancer.

"The more we know about the genetic causes of the disorder, the greater insight we will have as to possible therapeutic targets," said Aaron Gitler, PhD, associate professor of genetics. "Until now, researchers have primarily relied upon large families with many cases of inherited ALS and attempted to pinpoint genetic regions that seem to occur only in patients. But more than 90 percent of ALS cases are sporadic, and many of the genes involved in these cases are unknown."

Gitler is the senior author of the study, which will be published online May 26 in Nature Neuroscience. Postdoctoral scholar Alessandra Chesi, PhD, is the lead author. Gitler and Chesi collaborated with members of the laboratory of Gerald Crabtree, MD, professor of developmental biology and of pathology. Crabtree, a Howard Hughes Medical Institute investigator, is also a co-author of the study.

Chesi and Gitler combined deductive reasoning with recent advances in sequencing technology to conduct the work, which relied on the availability of genetic samples from not only ALS patients, but also the patients' unaffected parents. Such trios can be difficult to obtain for diseases like sporadic ALS that strike well into adulthood when a patient's parents may no longer be alive. Gitler and Chesi collaborated with researchers from Emory University and Johns Hopkins University to collect these samples.

The researchers compared the sequences of a portion of the genome called the exome, which directly contributes to the amino acid sequences of all the proteins in a cell. (Many genes contain intervening, non-protein-coding regions of DNA called introns that are removed prior to protein production.) Mutations found only in the patient's exome, but not in that of his or her parents', were viewed as potential disease-associated candidates -- particularly if they affected the composition or structure of the resulting protein made from that gene.

Focusing on just the exome, which is about 1 percent of the total amount of DNA in each human cell, vastly reduced the total amount of DNA that needed to be sequenced and allowed the researchers to achieve relatively high coverage (or repeated sequencing to ensure accuracy) of each sample.

"We wanted to find novel changes in the patients," Chesi said. "These represent a class of mutations called de novo mutations that likely occurred during the production of the parents' reproductive cells." As a result, these mutations would be carried in all the cells of patients, but not in their parents or siblings.

Using the exome sequencing technique, the researchers identified 25 de novo mutations in the ALS patients. Of these, five are known to be in genes involved in the regulation of the tightly packed form of DNA called chromatin -- a proportion that is much higher than would have been expected by chance, according to Chesi.

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Researchers identify genetic suspects in sporadic Lou Gehrig's disease

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Marla Dansky is scheduled for two rounds of surgery this summer, shortly after she completes chemotherapy treatments for a tumor in her left breast.

Her first operation at Duke Cancer Center will remove both breasts. A second will take out her ovaries and uterus, which are not cancerous but are likely to develop the disease, based on genetic tests that show she carries a faulty BRCA1 gene.

Its the best pre-emptive strike that I have, Dansky, 40, said of her decision to undergo a complete hysterectomy in addition to bilateral breast surgery. My plan is to do cancer once, and do it right the first time.

The strong link between the BRCA1 gene and cancer, as well as the option to sidestep much of the risk through elective surgery, grabbed headlines recently when actress Angelina Jolie made public her decision to undergo a double mastectomy.

But the procedure isnt only available to movie stars. More than a third of women who test positive for BRCA1 are choosing preventative surgeries largely because the gene mutation raises the typical 10 percent risk of female breast cancer to something closer to 80 percent, according to the National Cancer Institute.

Screening for breast cancer is now one of more than 1,000 genetic tests available to evaluate health risks. Such tests offer unprecedented opportunities to take steps to avoid serious illness in many cases, but they pose dilemmas for patients facing a high risk for diseases with no known cure.

Medical laboratory testing for genetic conditions can be expensive typically running about $3,000 for BRCA1. Because the disease is so expensive to treat and can be fatal, the cost for gene testing is often covered by insurance for women who have a strong family history of breast cancer and have been referred for testing by their doctors.

As the first company to isolate the individual BRCA1 and 2 genes, Myriad Genetics holds a patent for this test. The Salt Lake City-based company is facing a lawsuit over the gene patent, a case that is now before the U.S. Supreme Court. A ruling is expected in June.

Individuals seeking more general clues to their genetic profiles are turning to direct-to-consumer testing companies. A number of companies offer to scan blood or saliva samples for indications of risk for common diseases such as macular degeneration or diabetes, as well as more serious conditions such as cancer or Parkinsons disease.

One such testing company, the Web-based 23andMe, evaluates genetic indicators for health, ancestry and other traits using saliva samples sent in by customers, said company spokeswoman Catherine Afarian.

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Genetic tests offer early warnings for disease, for better or worse

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Washington, May 27 (ANI): Researchers have identified mutations in several new genes that might be associated with the development of spontaneously occurring cases of the neurodegenerative disease known as amyotrophic lateral sclerosis, or ALS.

Also known as Lou Gehrig's disease, the progressive, fatal condition, in which the motor neurons that control movement and breathing gradually cease to function, has no cure.

Although researchers know of some mutations associated with inherited forms of ALS, the majority of patients have no family history of the disease, and there are few clues as to its cause.

Researchers at the Stanford University School of Medicine compared the DNA sequences of 47 patients who have the spontaneous form of the disease, known as sporadic ALS, with those of their unaffected parents. The goal was to identify new mutations that were present in the patient but not in either parent that may have contributed to disease development.

Several suspects are mutations in genes that encode chromatin regulators - cellular proteins that govern how DNA is packed into the nucleus of a cell and how it is accessed when genes are expressed. Protein members of one these chromatin-regulatory complexes have recently been shown to play roles in normal development and some forms of cancer.

"The more we know about the genetic causes of the disorder, the greater insight we will have as to possible therapeutic targets," said Aaron Gitler, PhD, associate professor of genetics.

"Until now, researchers have primarily relied upon large families with many cases of inherited ALS and attempted to pinpoint genetic regions that seem to occur only in patients. But more than 90 percent of ALS cases are sporadic, and many of the genes involved in these cases are unknown," he noted.

Lead author postdoctoral scholar Alessandra Chesi, PhD, and Gitler combined deductive reasoning with recent advances in sequencing technology to conduct the work, which relied on the availability of genetic samples from not only ALS patients, but also the patients' unaffected parents.

Such trios can be difficult to obtain for diseases like sporadic ALS that strike well into adulthood when a patient's parents may no longer be alive. Gitler and Chesi collaborated with researchers from Emory University and Johns Hopkins University to collect these samples.

The researchers compared the sequences of a portion of the genome called the exome, which directly contributes to the amino acid sequences of all the proteins in a cell. (Many genes contain intervening, non-protein-coding regions of DNA called introns that are removed prior to protein production.) Mutations found only in the patient's exome, but not in that of his or her parents', were viewed as potential disease-associated candidates - particularly if they affected the composition or structure of the resulting protein made from that gene.

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Genetic suspects in sporadic Lou Gehrig's disease identified

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Nature, nurture or neither? What we do not know about genetics.
In the Peter Lindsay lecture UCL professor Steve Jones finds that the more we learn about genes, the more important the environment appears to be. Sadly due to a technical error the first...

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Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 12
My Sims 3 Page: http://mypage.thesims3.com/mypage/Llandros2012 My Blog: http://Llandros09.blogspot.com My Facebook: https://www.facebook.com/Llandros09?ref=tn_tnmn.

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How Are Gene Therapy and Nanotechnology Being Used in Breast Cancer Treatment?
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