PUBLIC RELEASE DATE:

13-Aug-2014

Contact: Lester Kok lesterkok@ntu.edu.sg 65-679-06804 Nanyang Technological University

A research team led by Nanyang Technological University (NTU) scientists have made a key finding which is expected to open up improved treatment possibilities for children suffering from leukaemia.

They found that two in three cases of acute lymphoblastic leukaemia, a type of cancer of the white blood cells, may be caused by mutations in one of the two key genes found in children. These genes are however more prevalent in those with Down syndrome.

This means that scientists can design better tailored treatment protocols, depending on which mutating gene is carried by the patient. Such treatments may include lower doses of anti-cancer drugs thus leading to fewer side effects.

Acute lymphoblastic leukaemia is the most common cancer in children, with 50 to 100 children diagnosed each year in Singapore. This gene discovery is good news for those with Down syndrome and the 20 per cent of children who do not respond well to standard therapy.

Children with Down syndrome have a 20 to 50 fold greater risk of developing this blood cancer. They are also prone to suffer a relapse and have a higher risk of dying from the side effects of therapy.

The discovery, made by an international team led by Professor Dean Nizetic from NTU's Lee Kong Chian School of Medicine, was published in the prestigious academic journal Nature Communications last week.

Prof Nizetic's team of experts in ageing and Down syndrome collaborated with researchers from the Queen Mary University in London and the universities of Geneva and Padua on this study.

Read the rest here:
NTU gene research promises better treatment procedures for children with leukemia

Recommendation and review posted by Bethany Smith

A new research has developed a fresh computational method to study the function of disease-causing genes with a new discovery of a gene associated with malaria.

Dr. Olivier Lichtarge, professor of molecular and human genetics and director of the Computational and Integrative Biomedical Research Center at Baylor said that today, rapidly falling costs meant that high throughput sequencing projects were revealing the entire gene sequences of ever more species, but the biological functions of most of these genes remain unknown.

The researchers came up with a computational method that allowed biological information to flow from gene to gene across a massive network across many genomes, known as the "supergenomic" network.

Dr. Andreas Martin Lisewski, an instructor in Lichtarge's lab at Baylor, asserted that the network connected millions of genes from hundreds of species based on their interactions within the organism or based on their ancestral relations between different species and normally computing the flow of functional information would be costly and slow, but they developed a compression method that reduced this gigantic network into one that was much smaller and now computationally tractable.

The study is published in the journal Cell.

More here:
New malaria research studies function of disease-causing gene

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise DALLAS August 14, 2014 UTSouthwestern Medical Center researchers successfully used a new gene editing method to correct a mutation that leads to Duchenne muscular dystrophy (DMD) in a mouse model of the condition.

Researchers used a technique called CRISPR/Cas9-mediated genome editing, which can precisely remove a mutation in DNA, allowing the bodys DNA repair mechanisms to replace it with a normal copy of the gene. The benefit of this approach over other gene therapy techniques is that the new method can permanently correct the defect in a gene rather than just transiently adding a functional one, said Dr. Eric Olson, Director of the Hamon Center for Regenerative Science and Medicine at UTSouthwestern and Chairman of Molecular Biology.

Using CRISPR/Cas9, the Hamon Center team was able to correct the genetic defect in a mouse model of DMD and thus prevent the development of features of the disease, which in boys causes progressive muscle weakness and degeneration, often along with breathing and heart complications.

Our findings show that CRISPR/Cas9 can correct a genetic mutation that leads to DMD, at least in mice, said Dr. Olson, holder of the Pogue Distinguished Chair in Research on Cardiac Birth Defects, the Robert A. Welch Distinguished Chair in Science, and the Annie and Willie Nelson Professorship in Stem Cell Research. Even in mice with only a small percentage of corrected cells, we saw widespread and progressive improvement of the condition over time, likely reflecting a survival advantage of the corrected cells and their contribution to regenerating muscle. He also pointed out this research sets the stage for possible clinical application of the approach in the future. Skeletal muscle is one of the largest tissues in the human body and current gene therapy methods are only able to affect a portion of the muscle. If the corrected tissue can replace the diseased muscle, then patients may get greater clinical benefit.

Although the genetic cause of DMD has been known for nearly 30 years, there are no treatments that can cure the condition. Duchenne muscular dystrophy breaks down muscle fibers and replaces them with fibrous and/or fatty tissue causing the muscle to gradually weaken.

DMD affects an estimated 1 in 3,6006,000 male births in the United States, according to the Centers for Disease Control (CDC). Left untreated, those with DMD eventually require use of a wheelchair between age 8 and 11, and have a life expectancy of 25 years. Initial symptoms include difficulty running and jumping, and delays in speech development. DMD can be detected through high levels of a protein called creatine kinase in the blood stream, and is confirmed by genetic testing.

Genome editing through the CRISPR/Cas9 system is not currently feasible in humans. However, it may be possible, through advances in the technology, to develop therapies for DMD in the future, Dr. Olson said.

At the moment, we still need to overcome technical challenges, in particular to find better ways to deliver CRISPR/Cas9 to the target tissue and to scale up, Dr. Olson said. But in the future we might be able to use this technique therapeutically, for example to directly target and correct a mutation in muscle stem cells and muscle fibers. We are working on a more clinically feasible method to correct mutations in adult tissues, and have made some progress added Chengzu Long, a graduate student in the Olson lab.

Read the rest here:
New Gene Editing Method Shows Promising Results for Correcting Muscular Dystrophy

Recommendation and review posted by Bethany Smith

A computer science and engineering associate professor and her doctoral student graduate are using a genetic computer network inference model that eventually could predict whether a person will suffer from bipolar disorder, schizophrenia or another mental illness.

The findings are detailed in the paper "Inference of SNP-Gene Regulatory Networks by Integrating Gene Expressions and Genetic Perturbations," which was published in the June edition of Biomed Research International. The principal investigators were Jean Gao, an associate professor of computer science and engineering, and Dong-Chul Kim, who recently earned his doctorate in computer science and engineering from UT Arlington.

"We looked for the differences between our genetic computer network and the brain patterns of 130 patients from the University of Illinois," Gao said. "This work could lead to earlier diagnosis in the future and treatment for those patients suffering from bipolar disorder or schizophrenia. Early diagnosis allows doctors to provide timely treatments that may speed up aid to help affected patients."

The UT Arlington researchers teamed with Jiao Wang of the Beijing Genomics Institute at Wuhan, China; and Chunyu Liu, visiting associate professor at the University of Illinois Department of Psychiatry, on the project.

Gao said the findings also could lead to more individualized drug therapies for those patients in the early stages of mental illnesses.

"Our work will allow doctors to analyze a patient's genetic pattern and apply the appropriate levels of personalized therapy based on patient-specific data," Gao said.

One key to the research is designing single nucleotide polymorphism or SNP networks, researchers said.

"SNPs are regulators of genes," said Kim, who joins the University of Texas-Pan American this fall as an assistant professor. "Those SNPs visualize how individual genes will act. It gives us more of a complete picture."

The paper is a culmination of four years of work.

Khosrow Behbehani, dean of the College of Engineering, said the research merges the power of computer science and engineering, psychology and genetics.

Read more here:
Earlier diagnosis, treatment of mental illness? Genetic computer network inference model

Recommendation and review posted by Bethany Smith

By Shane Huntington

Neuropsychiatrist Prof Chris Pantelis and neural engineering researcher Prof Stan Skafidas discuss the potential for the use of genetics to improve the diagnosis of autism.

SHANE HUNTINGTON I'm Dr Shane Huntington. Thanks for joining us. Human beings are social animals. We rely on language and the subtle social cues that accompany our words to communicate with each other. But for people with Autism Spectrum Disorder, or ASD for short, the simple acts of communicating and interacting with others in a social setting can be baffling or even terrifying. Currently ASD diagnosis is complex. Psychological assessments and interviews are combined with behavioural observations by parents and teachers and a multitude of other mental disorders need to be carefully ruled out. But we know from twin studies that there's a genetic component to ASD, so why don't we have a genetic test for this condition? Are behavioural observations really the best we can do for desperate parents seeking answers for the challenging behaviour in their children? Surely our extraordinary advances in genetics hint at effective DNA based tests. Today on Up Close we speak to a neuropsychiatrist and an electrical engineer about how we might one day test for ASD based on our genetics. Chris Pantelis is Professor of Neuropsychiatry and Scientific Director of the Melbourne Neuropsychiatry Centre at the University of Melbourne and Melbourne Health. Stan Skafidas is Professor of Neural Engineering at the Department of Electrical and Electronic Engineering; leads the Melbourne School of Engineering's research in nanoelectronics and is the Director of the Centre for Neural Engineering. Welcome to Up Close Stan and Chris.

STAN SKAFIDAS Thank you.

CHRIS PANTELIS Thank you.

SHANE HUNTINGTON Chris, I might start with you. What sorts of tests are currently available to diagnose someone with Autism Spectrum Disorder?

CHRISTOS PANTELIS So the diagnosis of Autism Spectrum Disorder relies very much on clinical observation. It requires careful considered observation of behaviour, social interaction and particularly looking at language and communication; also observations related to stereotype, the repetitive behaviours that many of these children manifest. The disorder is diagnosed early. The onset is before the age of three and it's the observation that children are not engaging, not socialising appropriately, that they're delayed in their language and that they may have stereotyped or repetitive behaviours. So very much the diagnosis is based on clinical observation at this point in time. Now as you rightly point out it is clear that there is a genetic component to this disorder. It runs in families. Those twins that are monozygotic have a high concordance, which means that if one twin has the disorder there's a high likelihood that the co-twin is also affected. This means that we should be able to examine the genetics of this disorder and see if we can come up with a test if you like that might help us in our clinical diagnosis.

SHANE HUNTINGTON You mentioned we can look at children as young as three. It would seem difficult that you'd be able to extract the sort of behavioural anomalies that you're talking about at that age, given the wide variety of developmental speeds that we find out kids growing up with. Now some kids learn language very quick, others don't. How successful is it in terms of determining if a child is positive at age three?

CHRISTOS PANTELIS Again a very good and I think the important thing here is that one needs to take account of the trajectory of development of any individual child. And often clinicians looking at these children will assess them over a lengthy period of time. The diagnosis might be suspected but may not be confirmed for a considerable period of time, perhaps a number of years. It depends on the severity of the presentation, the range of symptoms and how they're developing.

SHANE HUNTINGTON You mentioned the possibility of genetic testing. It would seem that we have a genetic test for every second illness at the moment. There are a lot of new ones around, the most commonly known ones such as those for breast cancer and so forth. There is definitely a genetic component to this as you say from twin studies. Why is it that we don't have a genetics test at this point for autism?

Read the rest here:
Screening along the spectrum: The search for a genetic test for autism

Recommendation and review posted by Bethany Smith

William Smith's disease has grim milestones.

At 2, the Gambrills triplet known as Mick couldn't walk or talk as well as his siblings. In kindergarten, he started losing language and motor skills. At 12, he needed a wheelchair and a feeding tube.

Doctors at Johns Hopkins Hospital dedicated to treating his symptoms said he had an undiagnosed progressive neuromuscular disease.

But a new test may provide something the family has long sought: a name.

"The idea that there is something out there that can tell you [what's wrong] is huge," said Cathy Smith, Mick's mother. "There is a lot of pain that comes from not knowing what is wrong with your kid."

The test, called whole exome sequencing, stems from the decades-long push to map all the genes in the human body and translate that knowledge into diagnostic tools and therapies.

The test has been commercially available for less than three years ,and doctors say it still doesn't offer definitive information for most patients with genetic disorders. The largest published study, by scientists at Baylor College of Medicine in Houston, found diagnoses a quarter of the time, though the success rate appears to be rising.

Data analysis takes three to four months, and the test is so new there is no insurance billing code and often no coverage for the average $7,000 cost even though insurers may pay more for a series of smaller genetic tests and potentially ineffective therapies.

Unlike tests that look for one or a small number of genetic mutations, such as the BRCA test for breast cancer, exome sequencing allows analysis of thousands of genes at once.

The exome is composed of about 22,000 genes, about 1 percent of the human genome. But it is believed to be where functionally important DNA is housed, and where 85 percent of harmful mutations are found.

Read the rest here:
New genetic test helps identify some mystery illnesses

Recommendation and review posted by Bethany Smith

An Iowa drug developer is preparing to test a possible Ebola vaccine in humans, as scientists race to develop ways to prevent or fight a virus that has killed more than 1,000 people in a West African outbreak.

NewLink Genetics is planning an initial phase of testing involving up to 100 healthy volunteers and is talking with regulators about the study, said Brian Wiley, the company's vice president for business development. He declined to say whether the drug developer has submitted an application for the research to the Food and Drug Administration.

Chief Financial Officer Gordon Link said Thursday the timing of the testing, which would involve up to 100 healthy volunteers, is uncertain.

"We're getting a lot of assistance from a number of sources to accelerate this, so exactly how long it's going to take is a little uncertain because people are greasing the paths as much as they can," he said.

There is no proven treatment or vaccine for Ebola, and the current outbreak, which also has sickened nearly 2,000 people, is the largest in history. The outbreak was first detected in March in Guinea and spread to Liberia, Sierra Leone and Nigeria.

Other possible Ebola vaccines under development include one developed at the National Institutes of Health that is set to begin early-stage testing in humans this fall.

On Wednesday, Canadian drugmaker Tekmira Pharmaceuticals Corp. said it wasn't ready to make its experimental Ebola drug available in Africa.

NewLink Genetics Corp. is planning to test a vaccine that was discovered by scientists working for the Canadian government. The U.S. drugmaker has an exclusive license to take it through clinical trials and then sell it if regulators grant approval.

NewLink said the vaccine has been 100 percent effective in preventing deadly Ebola infections in non-human primates, and it acts quickly enough to show effectiveness in animals that received a typically lethal dose of the virus.

The vaccine contains an antigen from the Ebola virus, and it essentially teaches a person's immune system how to fight the virus.

Visit link:
NewLink Genetics: Ready to Test Ebola Vaccine

Recommendation and review posted by Bethany Smith

Australian scientists studying zebrafish have stumbled upon what they say is one of the most significant discoveries in stem cell research.

In research published on Thursday in the journal Nature, the Monash University scientists revealed that they uncovered how one of the most important stem cells in blood and bone marrow, the haematopoietic stem cell (HSC), is formed.

Professor Peter Currie, from Monash University's Australian Regenerative Medicine Institute, said the discovery brought researchers closer to growing HSCs in a lab.

"HSCs are the basis of bone marrow transplantations as a therapy, so when a leukaemia patient receives bone marrow, it's really these HSCs that do the heavy lifting," Professor Currie said.

"So when clinicians do bone marrow transplants, they need to find a matching donor recipients and we know that's a hit-or-miss procedure.

"So for many years people have been trying to make HSCs in the dish, and they've had very little success in doing this."

Professor Currie, who led the study, said the discovery brought scientists much closer to achieving that aim.

"It's the discovery of a completely new cell type that basically is required to give instructions to the HSC to make it become what it needs to become," he said.

"It means we now understand how HSC form in the body better, we can use that information to try to grow these cells in the dish and we hope that will lead to better treatment for people with leukaemia and blood disorders."

Professor Currie said he specialises in muscle stem cell biology and accidentally came across the discovery while studying muscle stem cells in zebrafish.

Continue reading here:
Stem cell discovery: Australian scientists make significant find while studying zebrafish

Recommendation and review posted by simmons

The bodys natural killer cells, as their Hollywood-style name suggests, are key to the immune system. They are programmed to hunt out and destroy foreign and diseased cells. But they dont always identify their targets. When this happens, diseases such as cancer can set in.

But a team of researchers at the Walter and Eliza Hall Institute of Medical Research have worked out what the group of highly specialised killer cells need to function at their best. Its a protein called MCL-1.

Immunologist Nick Huntington said the protein was effectively a switch which could turn the killer cells on or off.

The discovery, outlined on Thursday in the journal Nature Communications, opens the way for new drug treatments to tame the spread of a range of diseases, including cancer.

It could also assist patients who undergo donor stem cell or bone marrow transplants - because by manipulating the killer cells switch, foreign bodies such as stem cells could go unchallenged by the bodys immune system.

"Its the only protein which does this in the cell, Dr Huntington said. It needs to be turned on for the cell to survive and when its turned off the cell will die.

While aware of the existence of the MCL-1 protein and its importance at a fundamental level, scientists were previously unaware of its role in natural killer cell function. With colleagues Priyanka Sathe and Rebecca Delconte, Dr Huntington established its role.

That knowledge will prove useful for the development of new drugs to treat cancers.

Potential benefits include reduced side effects from treatment, as the killer cells only target foreign, diseased or cancerous cells, unlike chemotherapy which targets healthy cells as well.

Being able to manipulate the switch of the natural killer cells could also mean scientists can reduce the size of the cancer, once detected.

See the original post:
Scientists discover killer cells' ''on switch''

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise Hematopoietic stem cells (HSCs) give rise to all other blood cell types, but their development and how their fate is determined has long remained a mystery. In a paper published online this week in Nature, researchers at the University of California, San Diego School of Medicine elaborate upon a crucial signaling pathway and the role of key proteins, which may help clear the way to generate HSCs from human pluripotent precursors, similar to advances with other kinds of tissue stem cells.

Principal investigator David Traver, PhD, professor in the Department of Cellular and Molecular Medicine, and colleagues focused on the Notch signaling pathway, a system found in all animals and known to be critical to the generation of HSCs in vertebrates. Notch signaling between emitting and receiving cells is key to establishing HSC fate during development, said Traver. What has not been known is where, when and how Notch signal transduction is mediated.

Traver and colleagues discovered that the Notch signal is transduced into HSC precursor cells from signal emitting cells in the somite embryologic tissues that eventually contribute to development of major body structures, such as skeleton, muscle and connective tissues much earlier in the process than previously anticipated.

More specifically, they found that JAM proteins, best known for helping maintain tight junctions between endothelial cells to prevent vascular leakage, were key mediators of Notch signaling. When the researchers caused loss of function in JAM proteins in a zebrafish model, Notch signaling and HSCs were also lost. When they enforced Notch signaling through other means, HSC development was rescued.

To date, it has not been possible to generate HSCs de novo from human pluripotent precursors, like induced pluripotent stem cells, said Traver. This has been due in part to a lack of understanding of the complete set of factors that the embryo uses to make HSCs in vivo. It has also likely been due to not knowing in what order each required factor is needed.

Our studies demonstrate that Notch signaling is required much earlier than previously thought. In fact, it may be one of the earliest determinants of HSC fate. This finding strongly suggests that in vitro approaches to instruct HSC fate from induced pluripotent stem cells must focus on the Notch pathway at early time-points in the process. Our findings have also shown that JAM proteins serve as a sort of co-receptor for Notch signaling in that they are required to maintain close contact between signal-emitting and signal-receiving cells to permit strong activation of Notch in the precursors of HSCs.

The findings may have far-reaching implications for eventual development of hematopoietic stem cell-based therapies for diseases like leukemia and congenital blood disorders. Currently, it is not possible to create HSCs from differentiation of embryonic stem cells or induced pluripotent stem cells pluripotent cells artificially derived from non-pluripotent cells, such as skin cells that are being used in other therapeutic research efforts.

Co-authors include Isao Kobayashi, Jingjing Kobayashi-Sun, Albert D. Kim and Claire Pouget, UC San Diego Department of Cellular and Molecular Medicine; Naonobu Fujita, UC San Diego Section of Cell and Developmental Biology; and Toshio Suda, Keio University, Japan.

See the original post:
New Blood: Tracing the Beginnings of Hematopoietic Stem Cells

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise LA JOLLAScientists at the Salk Institute for Biological Studies have identified a gene that regulates sleep and wake rhythms.

The discovery of the role of this gene, called Lhx1, provides scientists with a potential therapeutic target to help night-shift workers or jet lagged travelers adjust to time differences more quickly. The results, published in eLife, can point to treatment strategies for sleep problems caused by a variety of disorders.

Its possible that the severity of many dementias comes from sleep disturbances, says Satchidananda Panda, a Salk associate professor who led the research team. If we can restore normal sleep, we can address half of the problem.

Every cell in the body has a clock an abundance of proteins that dip or rise rhythmically over approximately 24 hours. The master clock responsible for establishing these cyclic circadian rhythms and keeping all the bodys cells in sync is the suprachiasmatic nucleus (SCN), a small, densely packed region of about 20,000 neurons housed in the brains hypothalamus.

More so than in other areas of the brain, the SCNs neurons are in close and constant communication with one another. This close interaction, combined with exposure to light and darkness through vision circuits, keeps this master clock in sync and allows people to stay on essentially the same schedule every day. The tight coupling of these cells also helps make them collectively resistant to change. Exposure to light resets less than half of the SCN cells, resulting in long periods of jet lag.

In the new study, researchers disrupted the light-dark cycles in mice and compared changes in the expression of thousands of genes in the SCN with other mouse tissues. They identified 213 gene expression changes that were unique to the SCN and narrowed in on 13 of these that coded for molecules that turn on and off other genes. Of those, only one was suppressed in response to light: Lhx1.

No one had ever imagined that Lhx1 might be so intricately involved in SCN function, says Shubhroz Gill, a postdoctoral researcher and co-first author of the paper. Lhx1 is known for its role in neural development: its so important, that mice without the gene do not survive. But this is the first time it has been identified as a master regulator of light-dark cycle genes.

By recording electrical activity in the SCN of animals with reduced amounts of the Lhx1 protein, the researchers saw that the SCN neurons werent in sync with one another, despite appearing rhythmic individually.

Read the original here:
Single Gene Controls Jet Lag

Recommendation and review posted by Bethany Smith

Scientists at the Salk Institute for Biological Studies have identified a gene that regulates sleep and wake rhythms.

The discovery of the role of this gene, called Lhx1, provides scientists with a potential therapeutic target to help night-shift workers or jet lagged travelers adjust to time differences more quickly. The results, published in eLife, can point to treatment strategies for sleep problems caused by a variety of disorders.

"It's possible that the severity of many dementias comes from sleep disturbances," says Satchidananda Panda, a Salk associate professor who led the research team. "If we can restore normal sleep, we can address half of the problem."

Every cell in the body has a "clock" -- an abundance of proteins that dip or rise rhythmically over approximately 24 hours. The master clock responsible for establishing these cyclic circadian rhythms and keeping all the body's cells in sync is the suprachiasmatic nucleus (SCN), a small, densely packed region of about 20,000 neurons housed in the brain's hypothalamus.

More so than in other areas of the brain, the SCN's neurons are in close and constant communication with one another. This close interaction, combined with exposure to light and darkness through vision circuits, keeps this master clock in sync and allows people to stay on essentially the same schedule every day. The tight coupling of these cells also helps make them collectively resistant to change. Exposure to light resets less than half of the SCN cells, resulting in long periods of jet lag.

In the new study, researchers disrupted the light-dark cycles in mice and compared changes in the expression of thousands of genes in the SCN with other mouse tissues. They identified 213 gene expression changes that were unique to the SCN and narrowed in on 13 of these that coded for molecules that turn on and off other genes. Of those, only one was suppressed in response to light: Lhx1.

"No one had ever imagined that Lhx1 might be so intricately involved in SCN function," says Shubhroz Gill, a postdoctoral researcher and co-first author of the paper. Lhx1 is known for its role in neural development: it's so important, that mice without the gene do not survive. But this is the first time it has been identified as a master regulator of light-dark cycle genes.

By recording electrical activity in the SCN of animals with reduced amounts of the Lhx1 protein, the researchers saw that the SCN neurons weren't in sync with one another, despite appearing rhythmic individually.

"It was all about communication-the neurons were not talking to each other without this molecule," says Ludovic Mure, a postdoctoral researcher and an author on the paper. A next step in the work will be to understand exactly how Lhx1 affects the expression of genes that creates this synchronicity.

Studying a mouse version of jet lag-an 8-hour shift in their day-night cycle-the scientists found that those with little or no Lhx1 readjusted much faster to the shift than normal mice. This suggests that because these neurons are less in sync with one another, they are more easily able to shift to a new schedule, though it is difficult for them to maintain that schedule, Panda says.

See the article here:
Single gene controls jet lag, study finds

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

13-Aug-2014

Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine

HOUSTON (Aug. 13, 2014) With the ability to use next generation sequencing technology, researchers have a broadened understanding of the association of genetic changes and disease causation to a much greater resolution, driving new discoveries, said clinical geneticists from Baylor College of Medicine in Houston and the University of Montreal in Canada in a perspective published today in the New England Journal of Medicine.

Authors Dr. Brendan Lee and James T. Lu of Baylor, and Dr. Phillippe Campeau of the University of Montreal, discuss the impact on the increased use of these technologies -- such as whole genome and whole exome sequencing which give insight into a person's complete DNA (whole genome) and all protein coding genes (exome) on the expanding collection of diseases with different genetic lesions.

Now it's the genotype -- not as much the phenotype -- that drives detection of the disease, the authors noted.

"Up until about the last five years, we have had relatively crude tools to interpret whether a mutation causes a disease," said Lee, professor and interim chair of molecular and human genetics at Baylor. "Typically we could only conclude that a genetic mutation was disease causing when it caused a dramatic alteration in the protein"

As the cost of next generation sequencing continues to drop, and is used more often, scientists are observing at much greater resolution and sensitivity how subtle gene changes may be associated with unique disease presentations, even in previously undiagnosed forms of disease.

"We are observing increasing complexity in the association of disease and genes. There are many different types of mutations in many different genes that can cause a specific disease grouping or even quite different disease groups more than we ever thought," said Lee. "Twenty years ago, we could only identify disease genes based on finding severe mutations in a recognized group of clinical features. Now we find often unique mutations in many different genes causing either similar or different disease conditions."

Use brittle bone disease for example, Lee said.

See original here:
Next generation sequencing shakes up genotype/phenotype correlation, disease discoveries

Recommendation and review posted by Bethany Smith

Accelerated Genetics is pleased to introduce AMP Genetics, the most complete genomic testing service in the industry.

Increase your genetic profitability averages in your herd with AMP Genetics. AMP Genetics uses female selection, which has the largest genomic benefit in herds for reducing generation interval and increasing reliability. Trait evaluations are conducted for production, health, longevity and appearance.

Using this genomic testing service you can predict the future performance of your herd and invest wisely in herd replacements. But not only do you get the testing service, AMP Genetics also provides the consultant to help analyze your herds data and help develop those matings that will ultimately increase your profitability.

At Accelerated Genetics we realize the value of your herds genetics and its important impact on making financially sound management decisions, says Joel Groskreutz, President and CEO. Through AMP Genetics, your herd will get a complete genetic analysis along with a trained genetic consultant to support your genetic goals.

Not only does Accelerated Genetics supply a trained genetics consultant with your use of AMP Genetics, but also a way to easily manage your herds genomic results. AMP Genetics users can login to Accelerated Genetics industry-leading website (www.accelgen.com) for their individual female proof updates and results storage. No more waiting for an email on evaluation days or having to track multiple result files! Its all in one place. AMP Genetics users also have access to instant analytic and genetic progress tracking features to easily interpret results.

The AMP Genetics process is simple:1)Order a free test kit by calling 1-800-451-9275 or emailgenomics@accelgen.com.2)Collect your hair sample(s).(For instructions to properly collect hair samples go to:http://www.accelgen.com/news/article/english/10/1537/genomic-testing---how-to-pull-hair-samples)3)Mail in your sample(s) to be tested.4)Receive your secure test results viawww.accelgen.com.5)Work with an Accelerated Genetics Consultant to evaluate your results and develop a mating recommendation based on your herd goals and priorities.

Accelerated Genetics is a global provider of bovine genetics and research, reproductive services, and solution-based animal health products. With a focus on People, Products and Pride, the Accelerated Genetics vision is to be the producers trusted first choice.

Read the rest here:
Accelerated Genetics offers new AMP genomic testing service

Recommendation and review posted by Bethany Smith

BACKBONES Web-a-thon
For the very first time we will be hosting the BACKBONES Web-a-thon, via Google Hangouts. For 16 hours straight a BACKBONES crew will be Live broadcast on Google Hangout with special guests...

By: BACKBONES

View original post here:
BACKBONES Web-a-thon - Video

Recommendation and review posted by sam

PUBLIC RELEASE DATE:

13-Aug-2014

Contact: Lucy Handford media@monash.edu Monash University

A cure for a range of blood disorders and immune diseases is in sight, according to scientists who have unravelled the mystery of stem cell generation.

The Australian study, led by researchers at the Australian Regenerative Medicine Institute (ARMI) at Monash University and the Garvan Institute of Medical Research, is published today in Nature. It identifies for the first time mechanisms in the body that trigger hematopoietic stem cell (HSC) production.

Found in the bone marrow and in umbilical cord blood, HSCs are critically important because they can replenish the body's supply of blood cells. Leukemia patients have been successfully treated using HSC transplants, but medical experts believe blood stem cells have the potential to be used more widely.

Lead researcher Professor Peter Currie, from ARMI explained that understanding how HSCs self-renew to replenish blood cells is a "Holy Grail" of stem cell biology.

"HSCs are one of the best therapeutic tools at our disposal because they can make any blood cell in the body. Potentially we could use these cells in many more ways than current transplantation strategies to treat serious blood disorders and diseases, but only if we can figure out how they are generated in the first place. Our study brings this possibility a step closer," he said.

A key stumbling block to using HSCs more widely has been an inability to produce them in the laboratory setting. The reason for this, suggested from previous research, is that a molecular 'switch' may also be necessary for HSC formation, though the mechanism responsible has remained a mystery, until now.

In this latest study, ARMI researchers observed cells in the developing zebra fish - a tropical freshwater fish known for its regenerative abilities and optically clear embryos - to gather new information on the signalling process responsible for HSC generation.

Read the original here:
Cell discovery brings blood disorder cure closer

Recommendation and review posted by simmons

PUBLIC RELEASE DATE:

12-Aug-2014

Contact: Meng Zhao eic@nrren.org 86-138-049-98773 Neural Regeneration Research

Mammalian adult central nerve system (CNS) injuries are devastating because of the intrinsic difficulties for effective neuronal regeneration. The greatest problem to be overcome for CNS recovery is the poor regeneration of neurons and myelin-forming cells, oligodendrocytes. Endogenous neural progenitors and transplanted exogenous neuronal stem cells can be the source for neuronal regeneration. However, because of the harsh local microenvironment, they usually have very low efficacy for functional neural regeneration which cannot compensate for the loss of neurons and oligodendrocytes. Glial cells (including astrocytes, microglia, oligodendrocytes and NG2 glia) are the majority of cells in CNS that provide support and protection for neurons. Inside the local microenvironment, glial cells largely influence local and transplanted neural stem cells survival and fates. This review critically analyzes current finding of the roles of glial cells in CNS regeneration, and highlights strategies for regulating glial cells' behavior to create a permissive microenvironment for neuronal stem cells. The Perspectives paper published in Neural Regeneration Research (Vol. 9, No. 13, 2014).

###

Article: "Stem cell therapy for central nerve system injuries: glial cells hold the key" by Li Xiao, Chikako Saiki, Ryoji Ide (1 Pharmacology Department, The Nippon Dental University, School of Life Dentistry at Tokyo, Tokyo, Japan; 2 Physiology Department, The Nippon Dental University, School of Life Dentistry at Tokyo, Tokyo, Japan).

Xiao L, Saiki C, Ide R. Stem cell therapy for central nerve system injuries: glial cells hold the key. Neural Regen Res. 2014;9(13):1253-1260.

Contact: Meng Zhao eic@nrren.org 86-138-049-98773 Neural Regeneration Research http://www.nrronline.org/

AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert! system.

View original post here:
Stem cell therapy for central nerve system injuries: Glial cells hold the key

Recommendation and review posted by simmons

The Only Way Is Essex star launched appeal to find his mother a donor Kym Norris, 54, was diagnosed with blood cancer after feeling lethargic and going to the doctors for tests She is in hospital undergoing intensive chemotherapy twice a day Doctors revealed last week a bone marrow transplant is her best hope Bobby is urging people to sign the bone marrow register to find a donor He is backing blood cancer charity Anthony Nolan's campaign Save A Stranger's Life and launched a Twitter appeal #SaveBobbysMum 27-year-old has also started a Just Giving page to support Anthony Nolan

By Lizzie Parry For Mailonline

Published: 05:03 EST, 13 August 2014 | Updated: 10:01 EST, 13 August 2014

194 shares

25

View comments

TOWIE star Bobby Cole Norris has revealed his mother needs a life-saving bone marrow transplant after she was diagnosed with leukaemia.

The 27-year-old launched a desperate plea to find a donor - his mother's 'best hope' of beating the vicious disease.

Bobby, an only child, said he is devastated having always been very close to his mother Kym, 54, a dental receptionist.

He said: 'My mum means the world to me and I love her to the moon and back.

View post:
TOWIE's Bobby Cole Norris' pleas for bone marrow donor after mother's leukaemia diagnosis

Recommendation and review posted by Bethany Smith

6 hours ago Growing stem cells in conditions free of animal material makes them safe for use in humans. Credit: Eraxion/iStock/Thinkstock

Human stem cells produced through genetic reprogramming are beset by safety concerns because current techniques alter the DNA of the stem cells and use material from animals to grow them. Now, A*STAR researchers have developed an efficient approach that produces safe, patient-specific human stem cells.

Human induced pluripotent stem cells have the potential to treat a number of diseases without the ethical issues associated with embryonic stem cells. Pluripotent stem cells can be produced from adult cells by introducing genes that reprogram them. Typically, the stem cells are grown on a layer of mouse cells in solutions (known as media) that contain animal proteinsand therefore, potentially may also carry disease. For such stem cells to be safe for use in humans, they need to be grown in 'xeno-free' conditions, which are devoid of material from other animals.

Andrew Wan and Hong Fang Lu at the A*STAR Institute of Bioengineering and Nanotechnology in Singapore and colleagues set out to develop a new xeno-free system. The researchers carried out the genetic reprogramming of cells on an artificially produced protein substrate rather than mouse cells. They also used media that contained no animal components. The result was more efficient reprogramming than seen with conventional approaches.

"A xeno-free system will eliminate the risk of disease transmission from other species, which is important for regulatory approval," explains Wan. "Yet there have been few studies on cell reprogramming under totally xeno-free conditions."

The researchers went one step further by addressing the problem of cells acquiring alterations to their DNA during reprogramming.

"Incorporation of transgenes into the genome of the cell poses another safety issue, risking unwanted genetic alterations," explains Lu. "In our work, the transgenes were introduced to initiate the reprogramming, but after this they were removed from the cell, leading to transgene-free stem cells."

The researchers demonstrated that after genetic reprogramming and the removal of the added genes, the stem cells could still develop into different cells types. They were even able to induce them to form dopaminergic neurons, the type that degenerates in Parkinson's disease. The conditions in which the stem cells were grown mean that they are suitable for clinical use and can be derived from a patient's own cells, ensuring complete compatibility.

"Regulatory approval for clinical application of stem cells largely depends on the conditions in which the stem cells are derived," says Wan. "We present a workable protocol for the reprogramming of fibroblasts to stem cells that minimizes any potential safety risks."

Explore further: Discovery may make it easier to develop life-saving stem cells

Read this article:
Animal-free reprogramming of adult cells improves safety

Recommendation and review posted by Bethany Smith

Bacteria inside your mouth drastically change how they act when you're diseased, according to research using supercomputers at the Texas Advanced Computing Center (TACC). Scientists say these surprising findings might lead to better ways to prevent or even reverse the gum disease periodontitis, diabetes, and Crohn's disease.

Marvin Whiteley, professor of molecular biosciences and director of the Center for Infectious Disease at The University of Texas at Austin, led the study published in April 2014 in the journal mBio.

"What we were trying to figure out," said Whiteley, "is how do these bacteria act when you're healthy, and how do they act when they're in a diseased state. The really big finding is that they do act very differently."

Bacteria share nutrients, and one species will even feed on another as they constantly interact. "The thing that we found in this paper," said Whiteley, "is that this sharing, and how they interact with each other changes quite drastically in disease than it does in health."

UT Austin researchers used shotgun metagenomic sequencing, a non-targeted way to study the all the genetic material of the bacterial communities. Whiteley and colleagues analyzed the RNA collected with the Lonestar and Stampede supercomputers at TACC. They were awarded computing allocations through the University of Texas System Research Cyberinfrastructure initiative. The research was funded by grants from the National Institutes of Health, administered by the National Institute of Dental and Craniofacial Research.

It might come as a surprise that microbes, mainly bacteria, outnumber human cells in our body by 10 to 1. And scientists have identified 10,000 different species of bacteria that live inside each person. These microbial communities are collectively known as the human microbiome. That's according to a five-year, $115 million research effort that began in 2008 by the National Institutes of Health (NIH) called the Human Microbiome Project.

"The easiest way to think of it is just the collection of bacteria that are in or on your body," Whiteley said. "We think of it as not only the bacteria, but the genetic composition. What's their DNA? And from that we can infer what these bacteria might be doing for us."

Whiteley's lab started by isolating RNA from the plaque samples collected. Study co-author Keith Turner, a postdoctoral researcher in Whiteley's lab, explained. "RNA, for those who know about computers, is kind of like the RAM (random access memory), the working memory of the cell." The RNA sample acts like a memory image or 'core dump' to reveal the processes of the as-yet unknown bacterium it came from. And unfortunately, said Turner, you can't get a full picture of the activity because there are so many molecules in the sample.

"But what you do," Turner explained, "is get what you can and profile it by sequencing, using some recent technological advances. Then it's essentially a search problem."

Turner searched a metagenomic database, essentially a vast genetic clearing house sampled from the environment instead of lab grown. He looked for matches at the NIH's Human Microbiome Project. A match told what bacterium a gene came from in the sample, and Turner tallied each match. "The more it's thinking about a certain process, the more it seems to be important to it," said Turner. "The shotgun approach, as you might imagine, is very computationally intensive, which is why we turned to TACC for some of these problems."

Read the original:
Mouth bacteria can change its diet, supercomputers reveal

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

13-Aug-2014

Contact: Kathryn Ryan kryan@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, August 13, 2014About 1 in 5 Medicare patients is discharged from hospice care alive, whether due to patients' informed choice, a change in their condition, or inappropriate actions by the hospice to save on hospitalization costs related to terminal illness. How live discharge rates differ between hospice programs and geographic regions, and when those rates should raise red flags are among the issues explored in the article "A National Study of Live Discharges from Hospice" , published in Journal of Palliative Medicine, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers/. The article is available free on the Journal of Palliative Medicine website until September 13, 2014.

Joan M. Teno, MD, Pedro Gozalo, PhD, and Vincent Mor, PhD, Brown University School of Public Health (Providence, RI), and Michael Plotzke, PhD, Abt Associates (Cambridge, MA), examined all of the Medicare hospice discharges in the U.S. between January 1 to December 31, 2010. For the patients discharged alive, they gathered data on survival for up to 6 months, subsequent hospitalizations, and Medicare payments during the 30 days after live hospice discharge. The authors provide details on the substantial variation they found in the rates of live discharges across states and between individual hospices, in particular comparing not-for-profit to for-profit hospice programs and more mature programs versus those that had been in operation for 5 years or less.

"The phenomenon of hospice patients 'graduating' because they get better with hospice care is well known. But, all patients discharged days to weeks before death is very strange," says Charles F. von Gunten, MD, PhD, Editor-in-Chief of Journal of Palliative Medicine and Vice President, Medical Affairs, Hospice and Palliative Medicine for OhioHealth (Columbus, OH).

###

Journal of Palliative Medicine is the official journal of the Center to Advance Palliative Care (CAPC) and an official journal of the Hospice and Palliative Nurses Association.

About the Journal

Journal of Palliative Medicine, published monthly in print and online, is an interdisciplinary journal that reports on the clinical, educational, legal, and ethical aspects of care for seriously ill and dying patients. The Journal includes coverage of the latest developments in drug and non-drug treatments for patients with life-threatening diseases including cancer, AIDS, cardiac disease; pulmonary, neurological, and respiratory conditions; and other diseases. The journal reports on the development of palliative care programs around the United States and the world, and on innovations in palliative care education. Tables of content and a sample issue may be viewed on the Journal of Palliative Medicine website.

Originally posted here:
Are patients being discharged from hospice care to save money?

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise LOS ANGELES (Aug. 12, 2014) Regenerative medicine experts at the Cedars-Sinai Heart Institute have opened a new clinic to evaluate heart and vascular disease patients for participation in stem cell medical studies.

Led by Eduardo Marbn, MD, PhD, director of the Cedars-Sinai Heart Institute, and Timothy Henry, MD, director of the Heart Institutes Cardiology Division, the doctors and researchers at the Cedars-Sinai Heart Institute Regenerative Medicine Clinic use a scientific approach to assess the possible benefits of stem cells to repair damaged or diseased cardiovascular tissues. The clinic is believed to be the first at a major U.S. academic medical center dedicated to matching patients with appropriate stem cell clinical trials, whether those research interventions are available at the medical center or at other institutions.

The Heart Institute Regenerative Medicine Clinic offers consultative services for patients with heart and vascular disease who may qualify for investigative stem cell therapy. The goal is to provide research options to patients who remain symptomatic on their current management regimen, or for patients with stable heart disease who are concerned about disease progression.

Over the past decade, medical experts have predicted that in the future, stem cell therapies would transform heart disease treatment and save lives, said Shlomo Melmed, MD, dean of the Cedars-Sinai faculty and the Helene A. and Philip E. Hixon Distinguished Chair in Investigative Medicine. At Cedars-Sinai, we have a track record of successfully directing cardiac stem cell studies as well as transferring innovations from the laboratory to the patient bedside.

In 2009, Marbn and his team completed the worlds first procedure in which a patients own heart tissue was used to grow specialized heart stem cells. The specialized cells were then injected back into the patients heart in an effort to repair and re-grow healthy muscle in a heart that had been injured by a heart attack. Results, published in The Lancet in 2012, showed that one year after receiving the stem cell treatment, heart attack patients demonstrated a significant reduction in the size of the scar left on the heart muscle after a heart attack.

Henry has served as principal investigator of multiple large, multicenter trials in acute coronary syndromes, myocardial infarction and angiogenesis, including several ongoing cardiovascular stem cell trials. He also is principal investigator for one of seven NIH Clinical Cardiovascular Stem Cell Centers.

Our goal is to help make stem cells a regular treatment option for heart disease, Henry said. Right now, many patients with advanced heart disease have limited treatment options. Stem cells offer not only hope but a real chance of a game-changing treatment.

As part of each patients assessment in the Heart Regenerative Medicine Clinic, physicians will evaluate patients interested in participating in stem cell clinical trials at Cedars-Sinai and, for patients willing to travel at other medical institutions across the nation. For patients willing to travel to participate in research, Cedars-Sinai physicians will work closely with investigators at other centers to expedite referrals and seamlessly transfer all relevant medical records.

Go here to read the rest:
Cedars-Sinai Heart Institute Opens First-of-its-Kind Research Stem Cell Clinic for Cardiac Patients

Recommendation and review posted by Bethany Smith

HOT SPRINGS | A new proposal to not only save but also enhance the Veterans Affairs hospital in Hot Springs surfaced Monday, and would add not only a medical college but also a medical research component involving the use of stem cells to the facility.

The idea, put forward by an Iowa-based, non-profit corporation, would also be built around treating patients with regenerative therapy, which helps skin grow back.

Bob Krause, president of Veterans National Recover Center, was joined by surgeon Don Swift in Hot Springs to presented the proposal at a press conference Monday morning. Their multi-pronged plan has been submitted for consideration to the VA Black Hills Health Care Systems Environmental Impact Statement.

Our proposal has three main areas, Krause told the small audience that attended the press conference. First, the creation of Battle Mountain College, for the training of doctors in the discipline of osteopathic medicine. Krause noted that by having the additional training, a major first hurdle in the BHHCS proposal to close the Hot Springsan inability to draw doctors to the area would be addressed.

We would also build the Battle Mountain Research Institute, for further research into the regenerative therapies, along with the Battle Mountain Clinic to treat those veterans and others who require this cutting-edge treatment, Krause said.

He added that the proposal stipulated that it is to be considered in its entirety and that if the VA medical center should close, everything is off the table. This proposal is not mutually exclusive of the one presented by Save the VA, he said of the Hot Springs-area group that is fighting to save the hospital from closure by the federal government.

Krause and Swift said that the technology, which was created in Switzerland by the military and is awaiting FDA approval in the United States, utilizes regenerative or restorative cells created from fetal stem cells to jump-start a patients ability to regenerate skin tissue. After the patients own skin begins to grow, the regenerative cells die, Krause said.

He said that submitting the new proposal through the EIS process was important, since the research would need to be conducted on federal property because South Dakota law does not allow stem cell research at this time.

Swift noted that an important part to the regenerative therapy process was access to mineral water to help hydrate the tissue and fight infection. Such water can be found in Hot Springs.

In response to a question, Krause said that he understands that there is a question involving fetal stem cell research. But what is the greater good? he asked. Do we overlook a veteran who has experienced having all of his skin burned away by an [explosion], instead of developing that single cell that could help? Are you going to walk away from that cell?

Read more here:
New idea for VA would bring an educational focus

Recommendation and review posted by Bethany Smith

NEW YORK, Aug. 12, 2014 /PRNewswire/ Reportlinker.com announces that a new market research report is available in its catalogue: Global Hematology Instruments and Reagents Industry http://www.reportlinker.com/p02284903/Global-Hematology-Instruments-and-Reagents-Industry.html

Excerpt from: Global Hematology Instruments and Reagents Industry

Hyderabad,Aug 12:

Global skin healthcare company PhotoMedex has entered the Indian market with its new laser technology for treatment of psoriasis and vitiligo (a skin condition causing white patches).

The firm opened its VTRAC brand of clinics in Hyderabad today, offering its certified laser technology to treat the skin diseases.

Dolev Rafaeli, CEO, said the company was launching five clinics in Hyderabad through the franchise route. We today operate about 2,500 VTRAC clinics all over the world, the majority being in the US and Europe. We believe our clinics hold the potential to transform vitiligo and psoriasis patients, he told mediapersons here.

The technology is a FDA-cleared and clinically proven excimer treatment used in multi-centre clinical studies. The VTRAC delivers a highly targeted therapeutic level of UVB light to areas of the skin affected by the disease, without harming the surrounding tissue. The UVB light stimulates re-pigmentation of the areas that have lost colour.

Market studies have shown that an estimated 4.4-6.5 per cent of the Indian population have vitiligo or psoriasis, which have no cure.

(This article was published on August 12, 2014)

See the article here: PhotoMedex enters India with vitiligo treatment

Read more here:
August 2014 IPS Cell Therapy IPS Cell Therapy

Recommendation and review posted by Bethany Smith

ARTAS FUE Hair Transplant and Stem Cell Therapy
Dr. William Yates speaks with another happy patient showing great results after a 2000 graft hair transplant utilizing the ARTAS FUE Robotic Hair Transplant ...

By: William Yates

See the original post here:
ARTAS FUE Hair Transplant and Stem Cell Therapy - Video

Recommendation and review posted by Bethany Smith