After severe spinal cord damage, paralyzed rats are able to walk again with the help of a robot to hold them up and stimulate their nerves, a new study shows.

After the rats are trained on the machine for about two months, they gained the ability to control their hind legs -- which had previously been cut off from communicating with the brain -- with enough dexterity to climb stairs and navigate around objects. This control means that the brain has forged new connections to get around the spinal cord injury.

NEWS: Bionic Suit Helps Paralyzed Woman Complete Marathon

"We expected they would recover to some degree, but the extent was amazing. They were able to avoid obstacles and walk up stairs," study researcher Janine Heutschi, of the Swiss Federal Institute of Technology in Switzerland, told LiveScience. "Not only that, but the consistency was really amazing. Every single animal we trained in this robot was able to perform these tasks."

What this means for humans is unclear, but the team is working to adapt the procedure for clinical trials.

Paralyzed Rats

The researchers simulated spinal cord damage in the rats by making two cuts halfway through the spinal cord; the cuts were two vertebra apart and came from opposite sides, so every nerve of the spinal cord was cut. The paralyzed rats can't use their hind legs, but can get around and act like normal rats using their front limbs.

They let the rats heal for a week, and then started their treatment. They were strapped into a robot that supported them on their rear legs, so they couldn't use their front limbs to propel themselves. The harness held them up without pushing them in any one direction, akin to swimming with a life vest.

"It is complexly passive. It just follows the rat in whatever she does," Heutschi said. "It just supports the body weight and balance; otherwise, they would fall to the side. Whenever the rat wants to walk forward, it has to initiate the movement itself."

ANALYSIS: Paralyzed Athlete Sit-Skiis to the North Pole

Original post:
Paralyzed Rats Regain Strut

Recommendation and review posted by sam

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Michael Mitchell michael.mitchell@epfl.ch 41-798-103-107 Ecole Polytechnique Fdrale de Lausanne

Rats with spinal cord injuries and severe paralysis are now walking (and running) thanks to researchers at EPFL. Published in the June 1, 2012 issue of Science, the results show that a severed section of the spinal cord can make a comeback when its own innate intelligence and regenerative capacitywhat lead author Grgoire Courtine of EPFL calls the "spinal brain"is awakened. The study, begun five years ago at the University of Zurich, points to a profound change in our understanding of the central nervous system. It is yet unclear if similar rehabilitation techniques could work for humans, but the observed nerve growth hints at new methods for treating paralysis.

"After a couple of weeks of neurorehabilitation with a combination of a robotic harness and electrical-chemical stimulation, our rats are not only voluntarily initiating a walking gait, but they are soon sprinting, climbing up stairs and avoiding obstacles," explains Courtine, who holds the International Paraplegic Foundation (IRP) Chair in Spinal Cord Repair at EPFL.

Neuroplasticity after severe injury

It is well known that the brain and spinal cord can adapt and recover from moderate injury, a quality known as neuroplasticity. But until now the spinal cord expressed so little plasticity after severe injury that recovery was impossible. Courtine's research proves that, under certain conditions, plasticity and recovery can take place in these severe casesbut only if the dormant spinal column is first woken up.

To do this, Courtine and his team injected a chemical solution of monoamine agonists into the rats. These chemicals trigger cell responses by binding to specific dopamine, adrenaline, and serotonin receptors located on the spinal neurons. This cocktail replaces neurotransmitters released by brainstem pathways in healthy subjects and acts to excite neurons and ready them to coordinate lower body movement when the time is right.

Five to 10 minutes after the injection, the scientists electrically stimulated the spinal cord with electrodes implanted in the outermost layer of the spinal canal, called the epidural space. "This localized epidural stimulation sends continuous electrical signals through nerve fibers to the chemically excited neurons that control leg movement. All that is left was to initiate that movement," explains Rubia van den Brand, contributing author to the study.

The innate intelligence of the spinal column

In a paper published in Nature Neuroscience in 2009, Courtine reported that a stimulated rat spinal columnphysically isolated from the brain from the lesion downdeveloped in a surprising way: It started taking over the task of modulating leg movement, allowing previously paralyzed individuals to walk, albeit involuntarily, over treadmills. These experiments revealed that the movement of the treadmill created sensory feedback that initiated walking: the spinal brain took over, and walking essentially occurred without any input from the rat's actual brain. This surprised the researchers and led them to believe that only a very weak signal from the brain was needed for the animals to initiate movement of their own volition.

See the original post:
Walking again after spinal cord injury

Recommendation and review posted by sam

ScienceDaily (May 31, 2012) Rats with spinal cord injuries and severe paralysis are now walking (and running) thanks to researchers at EPFL. Published in the June 1, 2012 issue of Science, the results show that a severed section of the spinal cord can make a comeback when its own innate intelligence and regenerative capacity is awakened. The study, begun five years ago at the University of Zurich, points to a profound change in our understanding of the central nervous system. According to lead author Grgoire Courtine, it is yet unclear if similar rehabilitation techniques could work for humans, but the observed nerve growth hints at new methods for treating paralysis.

"After a couple of weeks of neurorehabilitation with a combination of a robotic harness and electrical-chemical stimulation, our rats are not only voluntarily initiating a walking gait, but they are soon sprinting, climbing up stairs and avoiding obstacles when stimulated," explains Courtine, who holds the International Paraplegic Foundation (IRP) Chair in Spinal Cord Repair at EPFL.

Waking up the spinal cord

It is well known that the brain and spinal cord can adapt and recover from moderate injury, a quality known as neuroplasticity. But until now the spinal cord expressed so little plasticity after severe injury that recovery was impossible. Courtine's research proves that, under certain conditions, plasticity and recovery can take place in these severe cases -- but only if the dormant spinal column is first woken up.

To do this, Courtine and his team injected a chemical solution of monoamine agonists into the rats. These chemicals trigger cell responses by binding to specific dopamine, adrenaline, and serotonin receptors located on the spinal neurons. This cocktail replaces neurotransmitters released by brainstem pathways in healthy subjects and acts to excite neurons and ready them to coordinate lower body movement when the time is right.

Five to 10 minutes after the injection, the scientists electrically stimulated the spinal cord with electrodes implanted in the outermost layer of the spinal canal, called the epidural space. "This localized epidural stimulation sends continuous electrical signals through nerve fibers to the chemically excited neurons that control leg movement. All that is left was to initiate that movement," explains Rubia van den Brand, contributing author to the study.

The innate intelligence of the spinal column

In 2009, Courtine already reported on restoring movement, albeit involuntary. He discovered that a stimulated rat spinal column -- physically isolated from the brain from the lesion down -- developed in a surprising way: It started taking over the task of modulating leg movement, allowing previously paralyzed animals to walk over treadmills. These experiments revealed that the movement of the treadmill created sensory feedback that initiated walking -- the innate intelligence of the spinal column took over, and walking essentially occurred without any input from the rat's actual brain. This surprised the researchers and led them to believe that only a very weak signal from the brain was needed for the animals to initiate movement of their own volition.

To test this theory, Courtine replaced the treadmill with a device that vertically supported the subjects, a mechanical harness did not facilitate forward movement and only came into play when they lost balance, giving them the impression of having a healthy and working spinal column. This encouraged the rats to will themselves toward a chocolate reward on the other end of the platform. "What they deemed willpower-based training translated into a fourfold increase in nerve fibers throughout the brain and spine -- a regrowth that proves the tremendous potential for neuroplasticity even after severe central nervous system injury," says Janine Heutschi, co-author in the study.

First human rehabilitation on the horizon

More:
Walking and running again after spinal cord injury

Recommendation and review posted by sam

Paralyzed Rats Walk Again

Spinal stimulation combined with assisted walking therapy generates new neural circuits and restores voluntary leg movement.

Stair master: After training in a supportive robotic device while receiving spinal stimulation, a rat paralyzed by a spinal-cord injury regained enough control of its hind limbs to climb stairs. EPFL (Swiss Federal Institute of Technology)

Rats paralyzed by spinal-cord injury can learn to control their hind limbs again if they are trained to walk in a rehabilitative device while their lower spine is electrically and chemically stimulated. A clinical trial using a similar system built for humans could begin in the next few years.

Researchers in Switzerland used electrical and chemical stimulation to excite neurons in the lower spinal cord of paralyzed rats while the rodents were suspended by a vest that forced them to walk using only their hind legs. The rehabilitative procedure led to the creation of new neuronal connections between the movement-directing motor cortex of the brain and the lower spine, the researchers report in Science.

Previous research has shown that it is possible to reverse some of the effects of spinal-cord injury by circumventing the normal connection between the brain and legs, which is broken by the injury. For example, walking can be triggered in spinal-cord-injured rats if their spine is stimulated. But until now, such movement has been involuntary. This new research shows that with a specialized training system, similar rats can regain voluntary control over their legs.

A report published last year showed the proof of principle "that this kind of approach can work in patients," says Grgoire Courtine, senior author of the rat study. In May 2011, 25-year-old Rob Summers, who had been paralyzed from the chest down in a car accident, was reported to stand on his own for a few minutes with electrical stimulation of his spinal cord. He could also take repeated steps on a treadmill with the stimulation, which activates regions in the lower spinal cord that control walking. The locomotion resulting from this kind of stimulation is automatic and involuntary and is thought to require no direct communication from the brain.

Courtine had previously shown that this type of automatic walking could initiate walking patterns in the hind limbs of spinal-cord-injured rats that were spinally stimulated while on a treadmill. Because the spinal column could control the walking pattern, Courtine suspected that only a weak signal from the brain would be necessary for the animals to start walking voluntarily.

To test whether the rats could recover brain-directed control of these movements, he and his team developed a robotic support system that suspends rats in a bipedal standing posture and helps with balance but does not provide any forward momentum. Ten paralyzed rats were trained daily to walk with stimulation both on a treadmill and in the robotic system. After two to three weeks, the rats took their first voluntary steps. "This is the first time we have seen voluntary control of locomotion in an animal with [an injury] that normally leaves it completely paralyzed," says Courtine.

Key to this recovery was the active role of the rat's brain in wanting to move forward. The electrical and chemical stimulation puts the rat's nervous system in a state where walking is possible, says study co-author Janine Heutschi, and "then you need to make the rat to want to walk." The rats' desire to walk was motivated by chocolate rewards and vocal encouragement from the researchers (which you can hear in this video from the Swiss Federal Institute of Technology). The robotic suspension system forces the rodents to use their dormant hind limbs and not drag themselves forward with their still functional forelimbs.

Go here to see the original:
Paralyzed Rats Walk Again

Recommendation and review posted by sam

LITTLE ROCK, Ark. (KTHV) - There are two ways to donate bone marrow. The method used depends on the patient and is determined by their doctor. It's easier than ever and one volunteer is making sure that message is told.

It's a touching story, a young woman finds out she has leukemia, her long time friend sets out to help find a match to save her life.

The woman is Leslie Harris, now mother to a healthy baby boy, born theday doctors diagnosed her.Her future is still unsure. After three rounds of chemo, she's waiting for a bone marrow match.

He's not a student, but Colin Hall carries his backpack with him everywhere. Inside: his swabbing kits used to find a potential bone marrow donor for his friend Leslie Harris.

GetSwabbed.orgis out to "defeat blood cancer by empowering people to take action, give bone marrow and save lives." Hall is a volunteer rep for the DKMS organization.

Hall says, "Once I found out about [Leslie's leukemia]I got online to send out for MY free bone marrow kit because she needed a bone marrow transplant."

That urgent and emotional response was just the beginning of Hall's involvement in bone marrow donation work. He says the statistics are daunting, "Only 1 in 20,000 people become a match for somebody. And part of the problem is there is only 2 percentof the population on the registry. So we need to get more people on that registry so more people have a chance of finding a match."

While finding a match for the patient is hard enough, add to that the fact that many qualified donors don't know how easy the process can actually be.

Dr. Steve Medlin, with the Myeloma Institute at UAMS, says technology has come a long way in just a few short years.

"This used to be a painful procedure -or a more difficult procedure anyway-in which we'd have to extract the stem cells from the bone marrow typically from the hip bones. Now it's a much more simple procedure...and much better tolerated. It's just a process that takes maybe an hour or so to get the cathater in and maybe 4 to 6 hours on a machine to collect the stem cells then the cathater's out and the process is finished." says Medlin.

See original here:
Bone marrow donation easier than ever

Recommendation and review posted by Bethany Smith

NEW YORK, May 31, 2012 (GLOBE NEWSWIRE) -- NeoStem, Inc. (NYSE Amex:NBS) ("NeoStem" or the "Company"), an international biopharmaceutical company focused on cell based therapies, announced today that Company management will present at six conferences in June.

International Society for Cellular Therapy Annual Meeting

National Investment Banking Association Conference

International Society for Stem Cell Research 10th Annual Meeting

The Biotechnology Industry Organization (BIO) International Conference

Alliance for Regenerative Medicine -- Clinical Outlooks for Regenerative Medicine 2012

Marcum's Inaugural MicroCap Conference

About NeoStem, Inc.

NeoStem, Inc. ("NeoStem") is a leader in the development and manufacture of cell therapies. NeoStem has a strategic combination of revenues, including that which is derived from the contract manufacturing services performed by Progenitor Cell Therapy, LLC, a NeoStem company. That manufacturing base is one of the few cGMP facilities available for contracting in the burgeoning cell therapy industry, and it is the combination of PCT's core expertise in manufacturing and NeoStem's extensive research capabilities that positions the company as a leader in cell therapy development. Amorcyte, LLC, also a NeoStem company, is developing a cell therapy for the treatment of cardiovascular disease. Amorcyte's lead compound, AMR-001, represents NeoStem's most clinically advanced therapeutic and is enrolling patients in a Phase 2 trial for the preservation of heart function after a heart attack. Amorcyte expects to begin a Phase 1 clinical trial in 2012/2013 for AMR-001 for the treatment of patients with congestive heart failure. Athelos Corporation, also a NeoStem company, is developing a T-cell therapy for a range of autoimmune conditions with its partner Becton-Dickinson. NeoStem's pre-clinical assets include its VSEL(TM) Technology platform for regenerative medicine, which NeoStem believes to be an endogenous, pluripotent, non-embryonic stem cell that has the potential to change the paradigm of cell therapy as we know it today.

For more information on NeoStem, please visit http://www.neostem.com.

See original here:
NeoStem to Present at Six Conferences in June

Recommendation and review posted by Bethany Smith

30-05-2012 20:45 Shake It Up Australia and The Michael J. Fox Foundation (MJFF) today announced the first of up to $3 million worth of Australian research grants to help find a cure for Parkinson's disease. The research will explore the potential link between the immune system and the gene LRRK2 in people with Parkinson's disease. Scientists believe mutations in this protein could be the most common hereditary genetic cause of PD identified to date. World-leading Sydney medical researcher Prof Glenda Halliday and her co-researcher, Dr Nic Dzamko have been awarded $150000 to study how immune cells detect and respond to inflammatory stimuli and whether LRRK2 is involved.

Read more from the original source:
Shake It Up Australia Foundation funds first research grant for Parkinsons.mp4 - Video

Recommendation and review posted by Bethany Smith

CAMBRIDGE, Mass.--(BUSINESS WIRE)--

bluebird bio, a world leader in the development of innovative gene therapies for severe genetic disorders, today announced that John Maraganore, Ph.D., has joined the companys board of directors. Dr. Maraganore has more than 25 years of experience in research and development and is the chief executive officer of Alnylam Pharmaceuticals, a leader in RNAi therapeutics.

We welcome Johns extensive biotech experience during this pivotal time in the companys growth and development, said Nick Leschly, chief executive officer of bluebird bio. Johns broad strategic, finance and deal-making experience will be invaluable as we build upon our late stage clinical programs and advance our corporate development strategy.

Prior to joining Alnylam in 2002, Dr. Maraganore served as an officer and a member of the management team for Millennium Pharmaceuticals, Inc. As senior vice president, strategic product development for Millennium, Dr. Maraganore was responsible for the company's product franchises in oncology, cardiovascular, inflammation and metabolic diseases. He was previously vice president, strategic planning and M&A, and prior to that, he was general manager of Millennium BioTherapeutics, Inc., a former subsidiary of Millennium. Before Millennium, he served as director of molecular biology and director of market and business development at Biogen, Inc. (now Biogen Idec, Inc.). At Biogen, Dr. Maraganore invented and led the discovery and development of Angiomax (bivalirudin for injection, formerly Hirulog), currently marketed by The Medicines Company. Prior to Biogen, Dr. Maraganore was a scientist at ZymoGenetics, Inc., and The Upjohn Company. Dr. Maraganore received his M.S. and Ph.D. in biochemistry and molecular biology at the University of Chicago. He is chairman of Regulus Therapeutics, LLC, and a director for Agios Pharmaceuticals and Tempero Pharmaceuticals. In addition, he is an advisor to Third Rock Ventures, a member of the Immunology Advisory Council of Harvard Medical School and a member of the Biotechnology Industry Organization Board.

I am excited to join bluebird bios board and work with their expert team to capitalize on the significant recent advances they have made with the companys scientific platform, manufacturing capabilities and lead clinical development programs, said Dr. Maraganore. Gene therapy has the potential to become a key new therapeutic modality, and the clinical data continue to be very impressive. My sense is that bluebird bio is uniquely positioned to meet the significant treatment void for many patients with devastating diseases in a way that can be truly transformative and commercially deployable.

About bluebird bio

bluebird bio is developing innovative gene therapies for severe genetic disorders. At the heart of bluebird bios product creation efforts is its broadly applicable gene therapy platform for the development of novel treatments for diseases with few or no clinical options. The companys novel approach uses stem cells harvested from the patients bone marrow into which a healthy version of the disease-causing gene is inserted. bluebird bios approach represents a true paradigm shift in the treatment of severe genetic diseases by eliminating the potential complications associated with donor cell transplantation and presenting a one-time potentially transformative therapy. bluebird bio has two later stage clinical products in development for childhood cerebral adrenoleukodystrophy (CCALD) and beta-thalassemia/sickle cell anemia. Led by a world-class team, bluebird bio is privately held and backed by top-tier life sciences investors, including Third Rock Ventures, TVM Capital, ARCH Venture Partners, Forbion Capital Partners, Easton Capital and Genzyme Ventures. Its operations are located in Cambridge, Mass. and Paris, France. For more information, please visit http://www.bluebirdbio.com.

Follow this link:
John Maraganore, Ph.D., Joins the bluebird bio Board of Directors

Recommendation and review posted by Bethany Smith

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Holly Korschun hkorsch@emory.edu 404-727-3990 Emory University

Scientists have discovered that mutations in the gene BTBD9, which is linked with restless legs syndrome (RLS) in humans, disturb sleep in fruit flies. The mutant flies wake up more often during sleep periods, which resembles a key feature of human RLS.

The same mutations in BTBD9 also reduce levels of the neurotransmitter dopamine in the flies. Some kind of deficiency in dopamine signaling is thought to lie behind RLS in humans.

The results are published in the journal Current Biology.

"Flies and humans are distant from each other on the evolutionary tree, yet the same gene seems to be regulating a fundamental process in both organisms and affecting how soundly they sleep," says senior author Subhabrata Sanyal, PhD, assistant professor of cell biology at Emory University School of Medicine.

People with RLS experience unpleasant sensations in their legs and urges to move them, interfering with the ability to sleep. Genetics plays a major role in RLS, and most people with RLS have a close family member with the disorder. A variant in the BTBD9 gene accounts for about half of the risk for RLS in the population, according to multiple genetic studies (http://1.usa.gov/LqrO5L).

While medications exist to treat RLS, in some patients they are ineffective or have side effects. Researchers don't have a good understanding of what is going wrong in the nervous system in people affected by RLS, or what the BTBD9 gene does. Studying the fly version of BTBD9 could shed light on the basic biology and eventually lead to improved treatments for humans.

Postdoctoral fellow Amanda Freeman, the first author of the paper, examined flies' sleep behavior by putting individual flies into tubes with infrared sensors, which can detect when a fly moves across the middle of the tube. If a fly doesn't cross the beam for five minutes, it's considered asleep. She found that the BTBD9 mutant flies woke up more often during the night.

Disabling BTBD9 also makes flies more mobile while awake. Mutant flies confined in a tube move back and forth more often, leading Freeman and Sanyal to dub the mutant flies "wanderlust."

See the article here:
Restless legs syndrome in fruit flies: Mutation in fly version of a human RLS gene disturbs sleep

Recommendation and review posted by Bethany Smith

ScienceDaily (May 31, 2012) Why is it that some obese people are healthier than others? This was one of the main questions Dr. Chaodong Wu of the College of Agriculture and Life Sciences -- Texas A&M University System -- and a group of researchers tried to answer in a recent study.

The study, which will appear in a July issue of the Journal of Biological Chemistry, used genetically modified mice to investigate the genetic aspects of why some obese people do not develop certain medical problems typically associated with obesity, especially Type 2 diabetes.

Wu noted that Xin Guo, a Ph.D. candidate in the college's department of nutrition and food sciences, contributed significantly to the study.

"Previous research had indicated that a regulatory enzyme which is encoded by the gene PFKFB3 protects against diet-induced fat tissue inflammation and systemic insulin resistance," said Wu, who also has a Texas AgriLife Research appointment. "Increasing evidence shows that fat deposition, or amount, is not directly associated with the inflammation or insulin resistance in the development of obesity-related metabolic diseases."

Wu said the inducible 6-phosphorofructo-2-kinase (iPFK2) enzyme links metabolic and inflammatory responses and may underlie what he refers to as "healthy" obesity.

"While many obese people develop Type 2 diabetes, heart conditions and other chronic health problems associated with being significantly overweight, other obese people do not," he said. "And while obesity in general is not healthy, some obese people do not develop the diseases more commonly associated with a less-than-healthy diet. Furthermore, a number of thinner people may have the sort of health problems more typically associated with obesity."

Wu said he and the other researchers theorized that these diseases are associated with the cellular inflammatory response brought on by obesity.

"We also thought this gene could conceivably be targeted for use in the treatment of diabetes, especially Type 2, commonly associated with obesity," he said. "We wanted to find out what might happen to a subject if that particular gene was activated."

Wu and his fellow researchers used laboratory mice to explore the effect of a targeted adipocyte overexpression of the gene/enzyme combination on diet-induced inflammatory responses and insulin sensitivity.

"We were trying to find out what it is in adipose, or fat, tissue that may trigger a negative response that leads to disease -- and how to modulate that response," he said. "In our study, we learned overexpression of the iPFK2 enzyme increases fat deposition, suppresses inflammatory responses and improves insulin sensitivity in both adipose and live tissues."

Link:
Is there a 'healthy' obesity gene?

Recommendation and review posted by Bethany Smith

30-05-2012 10:32 Nicolas H. Zech, Congress President Where to next for PGD? From polar body to blastocyst -- the evolving genome Dear Colleagues! On behalf of the Preimplantation Genetic Diagnosis International Society (PGDIS) we take great pleasure in inviting you to our biannually held 11th International Conference in Bregenz, Austria. The PGD Conference will address a much wider range of topics than PGD, as the recent developments in related areas may soon move PGD from a research tool to the basic procedure in reproductive medicine and genetic practices. First of all, the recent application of microarray technology and next generation sequencing may clearly improve the accuracy of PGD for genetic and chromosomal disorders, so array-CGH, SNP arrays, genome wide analysis and next generation sequencing for single cell analysis will be one of the major topics of the Conference. In addition some related theoretical issues, such as molecular aspects of meiosis and cell fate in the preimplantation embryo will be also addressed. On the other hand, because of increasing importance of clinical aspects of PGD, a number of Workshops will be organized on advance topics in clinical PGD, as well as a few debates on controversial issues in PGD, such as the optimal stage for performing biopsy procedures and reproductive outcome of preimplantation aneuploidy testing, prior to and after the application of 24-chromosome analysis, currently performed in a few dozens of thousands of cycles. As PGD is still ...

View post:
11th International Conference on Preimplantation Genetics Diagnosis Welcome remarks Nicolas H. Zech - Video

Recommendation and review posted by Bethany Smith

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Erin Tornatore erin.tornatore@childrens.harvard.edu 617-919-3110 Children's Hospital Boston

Boston, Mass. Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder.

The discovery raises the hope that, for the first time, it will be possible to develop targeted medical treatments capable of delaying, reversing or possibly preventing CLOVES's debilitating consequences. Importantly, it also demonstrates the potential of advanced DNA sequencing technologies for identifying the underlying molecular roots of malformation disorders that are genetic but not hereditary.

The teamled by Matthew Warman, MD, director of the Orthopedic Research Laboratories at Boston Children's, and Kyle Kurek, MD, of the hospital's department of Pathology, and members of the hospital's Vascular Anomalies Centerreported the discovery today in the online edition of the American Journal of Human Genetics.

Some 90 children worldwide have been diagnosed with CLOVES (which stands for Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevis, Spinal/skeletal anomalies/scoliosis) since 2006, when the condition was first characterized by Boston Children's Ahmad Alomari, MD, and investigators at the National Institutes of Health. Alomari co-directs the Vascular Anomalies Center with Steven Fishman, MD, and John Mulliken, MD; all three are authors on the paper.

The clinical features of CLOVESin general a combination of fatty growths in the torso, vascular and skin anomalies, overgrowth in or deformities of limbs or extremities and spinal problems such as scoliosiscan vary greatly from child to child. Presently there is no cure for CLOVES, only surgical treatments aimed at alleviating symptoms or managing the syndrome's progression.

Until now, the exact nature of the genetic defect or defects that cause CLOVES has remained a mystery.

"CLOVES is dynamic, presenting itself in new ways all the time, even within the same patient," said Fishman, who with Alomari and others in the Vascular Anomalies Center has treated numerous children with CLOVES. "With this discovery we are optimistic that it will now be possible to develop treatments that take less of a shotgun approach and which could prevent the syndrome's progression."

The researchers started from the assumption that CLOVES is genetic but not inherited, because the syndrome always appears sporadically and is never passed from affected parents to their children; nor do the parents of affected children show signs of the syndrome.

View original post here:
Researchers at Boston Children's Hospital identify a genetic cause for CLOVES syndrome

Recommendation and review posted by Bethany Smith

May 31, 2012

Connie K. Ho for RedOrbit.com

Nature versus nurture has always been a highly debated question in the sciences. This discussion has been seen in a research project focused on smoking, where scientists determined that genetics can play a role in how patients respond to treatments. Researchers from the Washington University School of Medicine found that genes can show how smokers will respond to medication to quit the habit; they found that gene variations that make it difficult to stop smoking will also make smokers respond to nicotine-replacement therapy and treatments.

The study, published in a recent issue of the American Journal of Psychiatry, found that it could be possible to predict how patients respond to drug treatments for smoking cessation in the future based on the gene variations.

Smokers whose genetic makeup puts them at the greatest risk for heavy smoking, nicotine addiction and problems kicking the habit also appear to be the same people who respond most robustly to pharmacologic therapy for smoking cessation, explained senior investigator Dr. Laura Jean Bierut, a professor of psychiatry, in a prepared statement. Our research suggests that a persons genetic makeup can help us better predict who is most likely to respond to drug therapy so we can make sure those individuals are treated with medication in addition to counseling or other interventions.

In the experiment, the scientists looked at data from 5,000 smokers who were involved in community-based studies as well as another 1,000 smokers who participated in a project focused on clinical treatment. The researchers examined the connection between participants ability to quit smoking successfully and genetic variations that had been related to dependence on nicotine and a habit of obsessively smoking. They found an interesting set of results in regards to those who had high-risk genetic markers.

People with the high-risk genetic markers smoked an average of two years longer than those without these high-risk genes, and they were less likely to quit smoking without medication, noted first author Dr. Li-Shiun Chen, an assistant professor of psychiatry at Washington University, in the statement.

Individuals who showed high-risk genetic variants in the clinical trial were three times more likely to respond to drug therapies that were designed to help people quit smoking.

The same gene variants can predict a persons response to smoking-cessation medication, and those with the high-risk genes are more likely to respond to the medication, continued Chen in the statement.

Both Bierut and Chen believe the findings show that the genetic variations can help explain why smokers may be addicted to nicotine, as they studied the same genes that determined heavy response and an intense response to nicotine-dependence treatments.

Go here to read the rest:
Success Of Quitting Smoking Hinges On Genetic Variations

Recommendation and review posted by Bethany Smith

ScienceDaily (May 31, 2012) When flies are made to lose a gene with links to Restless Legs Syndrome (RLS), they suffer the same sleep disturbances and restlessness that human patients do. The findings reported online on May 31 in Current Biology, a Cell Press publication, strongly suggest a genetic basis for RLS, a condition in which patients complain of an irresistible urge to move that gets worse as they try to rest.

"Although widely prevalent, RLS is a disorder whose pathophysiological basis remains very poorly understood," said Subhabrata Sanyal of Emory University School of Medicine. "The major significance of our study is to highlight the fact that there might be a genetic basis for RLS. Understanding the function of these genes also helps to understand and diagnose the disease and may offer more focused therapeutic options that are currently limited to very general approaches."

Sanyal's team recognized that a number of genome-wide association studies in humans had suggested connections between RLS and variation in a single gene (BTBD9).

"BTBD9 function or its relationship to RLS and sleep were a complete mystery," Sanyal said.

His team realized that there might be a way to shed some light on that mystery in fruit flies. Flies have a single, highly conserved version of the human BTBD9. They decided to test whether the gene that had turned up in those human studies would have any effect on sleep in the insects. In fact, flies need sleep just like humans do, and their sleep patterns are influenced by the same kinds of brain chemistry.

The researchers now report that flies lacking their version of the RLS-associated gene do lose sleep as they move more. When those flies were treated with a drug used for RLS, they showed improvements in their sleep.

The studies also yielded evidence about how the RLS gene works by controlling dopamine levels in the brain as well as iron balance in cells. Sanyal said his team will continue to explore other RLS-related genes that have been identified in human studies in search of more details of their interaction and function.

"Our results support the idea that genetic regulation of dopamine and iron metabolism constitute the core pathophysiology of at least some forms of RLS," the researchers write.

More broadly, they say, the study emphasizes the utility of simple animals such as fruit flies in unraveling the genetics of sleep and sleep disorders.

Share this story on Facebook, Twitter, and Google:

More:
Flies with restless legs syndrome point to a genetic cause

Recommendation and review posted by Bethany Smith

As the cost of mapping out personal genomes goes down, the more potentially lifesaving but sensitive genetic data is available. Although the day when its commonplace to have that personal information in a medical record may be several years away, it is coming. And health insurers and hospitals need to think about how that information will be processed and transmitted in electronic medical records.

The Air Force Medical Service is collaborating with personalized medicine research center, the Coriell Institute for Medical Research in Camden, New Jersey in a study to review and evaluate medical evidence assess, among other things, best practices for using genetic information in EMRs, according to Coriell president Dr. Michael Christman. It will look at how the data should be displayed and how it should be shared with physicians.

About 2,000 active duty medical service personnel are expected to participate in the six-year Patient-Centered Precision Care Research program longitudinal study. It has already begun the recruitment process. Johns Hopkins University Applied Physics Laboratory will also offer research and program management support for the study.

The institute is working on a similar study with Ohio State University Medical Center.

Read more here:
Personalized medicine study using genetic data in EMRs signs up Air Force

Recommendation and review posted by Bethany Smith

ALISO VIEJO, Calif. and NASHVILLE, Tenn.--(BUSINESS WIRE)--

Clarient Diagnostic Services, Inc., a GE Healthcare company, and molecular diagnostics company Insight Genetics, Inc., today announced a worldwide licensing agreement for intellectual property from Insight Genetics, granting Clarient rights to develop a genetic test covering the ALK (anaplastic lymphoma kinase) biomarker, a promising target for several classes of cancer drugs.

As a result of the Agreement, Clarient intends to develop and evaluate the performance characteristics of a quantitative PCR-based test that detects increased transcription of the ALK gene. Rearrangements involving the ALK gene are implicated in non-small cell lung cancer (NSCLC) and other cancers. Several therapeutics compounds, known as ALK inhibitors, are in clinical trials and one, Xalkori, has been approved by the US Food and Drug Administration (FDA). Since only patients with ALK fusions are likely to respond to ALK inhibitors, accurate diagnostic screening is essential before prescribing ALK-targeted drugs.

The National Comprehensive Cancer Network guidelines now suggest ALK testing as a standard measure for all non-small cell lung cancer patients due to the development of therapies targeting ALK inhibition, said Kenneth J. Bloom, MD, chief medical officer of Clarient. Our agreement with Insight Genetics is another example of our mission of translating biomarker discovery to aid the development of new therapeutics and to assist physicians in determining the eligibility of their patients to receive the most appropriate therapy.

Insight and Clarient share a dedication to enhancing personalized cancer care, said Eric Dahlhauser, Chairman and CEO of Insight Genetics. Were pleased to work with Clarient, a leader in cancer diagnostics with a strong commitment to developing tests that address targeted therapies, toward advancing this common goal.

In addition to the proven role it plays in select lung cancers, ALK has been found to have a pathogenic role in many cancers including diffuse large B-cell lymphoma, inflammatory myofibroblastic tumor, esophageal squamous cell carcinoma, colorectal cancer and breast cancer. It is estimated that more than 250,000 new cancer diagnoses in the U.S. each year can be linked to ALK mutations and fusions.

A commitment to cancer

Building on its 50 years in the oncology space, in September 2011 GE, through healthymagination, announced a new commitment to take cancer research, diagnostics and treatment to the next level. The company committed to accelerate cancer innovation by investing $1 billion in cancer technology research and development as well as improve care for 10 million cancer patients around the world by 2020.

In tandem with that announcement, GE and several partners launched a $100 million open innovation cancer challenge, an open call to action seeking ideas to accelerate early detection and enable more personalized treatment for breast cancer. GE and its venture capital partners pledged up to $100 million to fund breakthrough ideas that help healthcare professionals better understand triple negative cancer pathways, and the molecular similarities between breast cancer and other solid tumors.

The challenge garnered more than 500 ideas from 40 countries, sparking robust conversations among more than 200 academic institutions and researchers on the Challenges open innovation platform. In March 2012 the first five innovation award winners were announced. The five innovation award winners have the potential to help doctors find cancer earlier, make more accurate diagnoses and choose the best possible treatment based on each patients unique cancer. Learn more here.

More:
GE Healthcare Licenses Genomic Biomarker for Lung Cancer from Insight Genetics

Recommendation and review posted by Bethany Smith

NASHVILLE, Tenn. & BEIJING--(BUSINESS WIRE)--

Molecular diagnostics company Insight Genetics and Kindstar Globalgene (Beijing) Technology, Inc., Chinas leading diagnostics company, today announced that the companies are partnering to enhance cancer care in the Peoples Republic of China and surrounding regions.

The new partnership begins with a licensing agreement that allows Kindstar to add Insight Genetics Insight ALK Screen lung cancer test to Kindstars growing menu of tests that improve cancer diagnosis and patient care. Kindstars diagnostic services, which are offered from its laboratories in Wuhan, Beijing and Shanghai, help physicians properly diagnose diseases and allow them to develop treatment plans for patients suffering from hematologic malignancies, solid tumors, and genetic diseases.

Insight Genetics unique test broadens the companys ability to help doctors select the best possible treatments for patients with non-small cell lung cancer. Kindstar expects to launch Insight ALK Screen to its clinician and hospital customers throughout China, the Special Administrative Region of Hong Kong, and Macau in July 2012.

Adding Insight ALK Screen to our menu of tests is just the beginning of what we see as a broader strategic relationship with Insight Genetics, said Shiang Huang, MD, chief executive officer of Kindstar. With Insight ALK Screen, we can offer clinicians more detailed information on their patients particular forms of cancer so they can determine the most effective treatment course. Working with Insight Genetics over the long term, we see great opportunity to collaborate on the creation of additional tests that will help us spread the benefit of personalized cancer care to more people in China and surrounding regions.

Insight ALK Screen is a real-time PCR-based test that detects cancer-causing fusions and mutations of anaplastic lymphoma kinase (ALK). ALK fusions and mutations have been shown to be a contributing cause in approximately 5-10 percent of lung cancers. The test offers fast, accurate and comprehensive results that inform a physician if a patients cancer is associated with ALK.

Knowing if a patient is ALK fusion-positive assists clinicians in determining if the patient can be treated with an ALK inhibitor, an emerging class of cancer therapy. Since only patients with ALK fusions are likely to respond to ALK inhibitors, accurate diagnostic screening is essential before prescribing ALK-targeted drugs.

Kindstar is truly leading the way in enhancing Chinas healthcare system by making advanced diagnostics more widely accessible, said Eric Dahlhauser, Chairman and CEO of Insight Genetics. Were proud to offer Insight ALK Screen to physicians across China, Hong Kong and Macau, and more importantly, begin our partnership with Kindstar to find ways that we can collaborate to enhance and personalize cancer care around the world.

Comparison testing has shown that Insight ALK Screen has many benefits over other ALK testing methods, including fluorescent in situ hybridization (FISH) and immunohistochemistry (IHC). The assay offers the accuracy and reliability advantages of a qPCR platform without the need for validated primer pair for each fusion. Unlike a variant-specific multiplex strategy, Insight ALK Screen can detect the presence of any fusion within the ALK gene. It also can identify ALK upregulation without using a secondary platform.

In addition to the proven role it plays in select lung cancers, ALK has been found to have a pathogenic role in many cancers including diffuse large B-cell lymphoma, inflammatory myofibroblastic tumor, esophageal squamous cell carcinoma, colorectal cancer and breast cancer. It is estimated that more than 1,300,000 new cancer diagnoses globally each year can be linked to ALK mutations and fusions.

Link:
Insight Genetics and Kindstar Global Partner to Enhance Cancer Care in China

Recommendation and review posted by Bethany Smith

30-05-2012 07:05 write to:

Here is the original post:
Dogged by pain -- stem cell therapy for dogs.flv - Video

Recommendation and review posted by simmons

NEW YORK, May 31, 2012 (GLOBE NEWSWIRE) -- NeoStem, Inc. (NYSE Amex:NBS) ("NeoStem" or the "Company"), an international biopharmaceutical company focused on cell based therapies, announced today that Company management will present at six conferences in June.

International Society for Cellular Therapy Annual Meeting

National Investment Banking Association Conference

International Society for Stem Cell Research 10th Annual Meeting

The Biotechnology Industry Organization (BIO) International Conference

Alliance for Regenerative Medicine -- Clinical Outlooks for Regenerative Medicine 2012

Marcum's Inaugural MicroCap Conference

About NeoStem, Inc.

NeoStem, Inc. ("NeoStem") is a leader in the development and manufacture of cell therapies. NeoStem has a strategic combination of revenues, including that which is derived from the contract manufacturing services performed by Progenitor Cell Therapy, LLC, a NeoStem company. That manufacturing base is one of the few cGMP facilities available for contracting in the burgeoning cell therapy industry, and it is the combination of PCT's core expertise in manufacturing and NeoStem's extensive research capabilities that positions the company as a leader in cell therapy development. Amorcyte, LLC, also a NeoStem company, is developing a cell therapy for the treatment of cardiovascular disease. Amorcyte's lead compound, AMR-001, represents NeoStem's most clinically advanced therapeutic and is enrolling patients in a Phase 2 trial for the preservation of heart function after a heart attack. Amorcyte expects to begin a Phase 1 clinical trial in 2012/2013 for AMR-001 for the treatment of patients with congestive heart failure. Athelos Corporation, also a NeoStem company, is developing a T-cell therapy for a range of autoimmune conditions with its partner Becton-Dickinson. NeoStem's pre-clinical assets include its VSEL(TM) Technology platform for regenerative medicine, which NeoStem believes to be an endogenous, pluripotent, non-embryonic stem cell that has the potential to change the paradigm of cell therapy as we know it today.

For more information on NeoStem, please visit http://www.neostem.com.

See the original post:
NeoStem to Present at Six Conferences in June

Recommendation and review posted by simmons

Health

May 30, 2012

by Suzanne Kurtz, JTA

For nearly a year, Julie Gavrilov has been trying to find a match for her father, Mark.

Diagnosed with a rare and aggressive blood cancer, he needs a stem cell transplant to survive the disease.

A Bukharian Jew born in Uzbekistan, he will have the best chance of survival if he finds a donor from within his own ethnic community.

Since learning of her 58-year-old fathers diagnosis, Gavrilov, an attorney in New York, has organized a donor drive at a Bukharian Jewish community center in the Queens borough of the city, written heartfelt messages for local synagogue newsletters and posted her plea on Facebook.

A compatible donor has yet to be identified, but Gavrilov, 32, is hopeful that the person who can save her fathers life will be found.

It just takes one person, she said.

Finding that person for Jews of non-Ashkenazi descent can be especially difficult.

Continue reading here:
Israeli, U.S. drives aiming to increase number of non-Ashkenazi bone marrow donors

Recommendation and review posted by sam

IRVINE, Calif. and AMSTERDAM, May 31, 2012 /PRNewswire/ --Agendia, an innovative molecular cancer diagnostics company and leader in personalized medicine, today announced that the company has raised USD $65 million in a private round of equity financing.

"The support we have received in this round of financing is a strong reflection of our recent growth and confidence in the commercialization of our product pipeline in the future," said David Macdonald, CEO of Agendia. "We will use these funds to expand commercialization of our current breast cancer Symphony suite of tests, as well as for development of our personalized medicine pipeline. We have recently launched our Symphony suite in an FFPE format, and we are preparing to launch our ColoPrint recurrence test for stage II colon cancer prognosis and prediction."

The financing round was led by the Debiopharm Group (Debiopharm), a leading drug development company based in Switzerland, with significant support from all of Agendia's current investors, including; The Van Herk Group, ING Corporate Investments, Breedinvest and Gilde Healthcare. Agendia also brought in other new investors for the financing round, including Korys, the investment structure of the Colruyt family and others.

"Debiopharm has been very impressed by the quality of the work and recent substantial progress made by Agendia to overcome the hurdles it faced in the past. Agendia pioneered and advocated the implementation of personalized cancer management strategies. Its offering (both commercially and scientifically) has advanced molecular cancer diagnosis in its growing role. Becoming successful in this still challenging area will lead to substantial improvements for the selection of cancer therapies and, therefore, also enhance the cost-effectiveness of highly innovative and valuable treatments for subsets of patients. In other words, to us, Agendia will support genuine win-win strategies and facilitate the reduction of the gap between the diagnostic and the drug world," said Thierry Mauvernay, Delegate of the Board of Debiopharm.

"We are absolutely delighted to bring Agendia into our investment portfolio," stated Vincent Vliebergh, CEO of Korys. "The company's molecular diagnostic tests for breast cancer, developed and validated in close collaboration with leading academic centers,enable physicians to determine the most effective treatment for each individual patient, leading to better health outcomes and lower costs. As such, we see Agendia as a catalyst in the shift to more personalized medicine, and we look forward to working with the company to make this vision come true."

About Agendia:

Agendia is a leading molecular diagnostic company that develops and markets genomic-based diagnostic products, which help support physicians with their complex treatment decisions. Agendia's breast cancer Symphony suite was developed using unbiased gene selection, analyzing the complete human genome, ensuring 100% definitive results for cancer patients. Symphony includes MammaPrint, the first and only FDA-cleared IVDMIA breast cancer recurrence assay, as well as BluePrint, a molecular subtyping assay, TargetPrint, an ER/PR/HER2 expression assay, and TheraPrint, an alternative therapy selection assay. Together, these tests help physicians determine a patient's individual risk for metastasis, which patients will benefit from chemo, hormonal, or combination therapy, and which patients do not require these treatments and can instead be treated with other less arduous and less costly methods.

In addition to the Symphony suite of tests, Agendia has a rich pipeline of genomic products in development. The company collaborates with pharmaceutical companies, leading cancer centers and academic groups to develop companion diagnostic tests in the area of oncology and is a critical partner in the ISPY-2 and MINDACT trials.

For more information, please visit http://www.agendia.com.

Read the original post:
Agendia Raises $65 Million in a Private Round of Equity Financing

Recommendation and review posted by sam

WALTHAM, Mass.--(BUSINESS WIRE)--

N-of-One, Inc., provider of Diagnostic Strategy Roadmaps and Treatment Strategy Roadmaps for personalized cancer care, announced today that the company has entered into a strategic collaboration with Foundation Medicine, Inc. to support the development of its fully informative molecular cancer profiles that can be used to guide individualized patient treatment strategies.

Foundation Medicine will use its state-of-the-art genomic sequencing and analytic capabilities on patient tumor samples to detect and analyze molecular alterations in hundreds of cancer-related genes to potentially identify biological markers that may be driving the onset, growth, and spread of an individuals cancer. N-of-One will apply its PrecisionWorks knowledge integration platform for personalized medicine to assist in the transformation of cancer-relevant genomic alteration data identified by Foundation Medicine into clinically relevant information by linking each molecular variation with up-to-date information about relevant targeted therapies and clinical trials that may be effective against the individuals tumor. Foundation Medicine provides its reports to oncologists to help them determine appropriate treatment strategies tailored to each patient based on their specific genomic profile.

This collaboration represents another important step toward transforming next-generation sequencing into a decision-making tool that empowers oncologists to act rapidly and decisively in providing precision treatment strategies for their patients, said Jennifer Levin Carter, MD, Founder and President of N-of-One. We are delighted to work with Foundation Medicine to convert comprehensive cancer-associated molecular data from its market-leading test into customized reports that will help physicians optimize treatment strategies and improve patient outcomes.

N-of-One is a leader in the curation of molecular information, said Kevin Krenitsky, MD, COO of Foundation Medicine. N-of-One has developed a knowledge integration platform that will help us translate genomic alteration data into information that can be provided to clinicians to help them understand and act upon the genomic data we provide. We are excited to collaborate with N-of-One to provide our fully informative genomic profile to benefit patients.

About N-of-One

N-of-One is dedicated to helping oncologists identify optimal personalized diagnostic and treatment strategies for each individual patienteach n of one. Powered by our proprietary PrecisionWorks knowledge integration platform, the N-of-One team develops roadmaps that drive highly informed clinical decision-making by linking data about the molecular variations in each patients cancer cells with leading-edge knowledge, diagnostics, treatments, and technologies relevant to the tumor type. PrecisionWorks also powers solutions that address the unique logistical and procedural challenges of delivering personalized cancer care by streamlining coordination among health care providers, diagnostic companies, payers, drug and technology innovators, and patients. N-of-One works with physicians and therefore does not providemedical advice nor promote any product orservice. For more information, please visit http://www.n-of-one.com.

About Foundation Medicine

Foundation Medicine is a molecular information company dedicated to a transformation in cancer care in which treatment is informed by a deep understanding of the genomic changes that contribute to each patients unique cancer. The company has developed a fully informative genomic profile to identify a patients individual molecular alterations and match them with relevant targeted therapies and clinical trials. Foundation Medicines molecular information platform aims to improve day-to-day care for patients by serving the needs of clinicians, academic researchers and drug developers to help advance the science of molecular medicine in cancer. For more information, please visit the companys website http://www.foundationmedicine.com.

Originally posted here:
N-of-One Announces Agreement with Foundation Medicine to Provide the First Patient-Specific Genomic Diagnostic ...

Recommendation and review posted by sam

KIAH

12:01 p.m. CDT, May 30, 2012

How do you mend a broken heart? Thanks to scientists in Israel, we might soon have an answer.

Dr. Lior Gepstein and his team at Technion-Israel Institute of Technology managed to take skin cells from ailing heart patients and by adding three genes and valproic acid (used to treat epilepsy), they turned the cells into beating heart tissue.

And it was not just any old heart cells, but, according to Gepstein, "heart cells that are healthy, that are young and resemble heart cells at the day that the patient was born."

The researchers put the new beating heart tissue into rat hearts and saw it was not rejected, but seemed to establish connections with the rodents' tissue.

Stem cell experts praised the research as promising but urged people not to expect to be stopping by the clinic for a fresh heart any time soon. Gepstein's researchers say clinical trials should begin within the next 10 years.

Read the original:
Skin cells turned into beating heart cells

Recommendation and review posted by Bethany Smith

30-05-2012 10:25

Read the original post:
Heart-Attack-Patient-Receives-Adult-Stem-Cell-Therapy- - Video

Recommendation and review posted by Bethany Smith

30-05-2012 16:02 Ovation Cell Therapy Tips for Thicker, Stronger, Longer Hair.

The rest is here:
How to Use the Advanced Cell Therapy System - Video

Recommendation and review posted by Bethany Smith