PUBLIC RELEASE DATE:

29-Apr-2014

Contact: Peter Tarr tarr@cshl.edu 516-367-8455 Cold Spring Harbor Laboratory

Dublin, Ireland and Cold Spring Harbor, NY In research published today in Molecular Psychiatry, a multinational team of scientists presents new evidence supporting the theory that in at least some cases of schizophrenia, autism and intellectual disability (ID), malfunctions in some of the same genes are contributing to pathology.

The team, the product of an ongoing collaboration between Professors W. Richard McCombie of Cold Spring Harbor Laboratory (CSHL) and Aiden Corvin of Trinity College, Dublin, studied a type of gene aberration called de novo mutation, in a sample of 42 "trio" families in which the child, but neither parent, was diagnosed with schizophrenia and/or psychosis and 15 trio families with a history of psychosis.

Schizophrenia is thought to be caused in many instances by gene mutations passed from parents to children, the effects of which may be enhanced by adverse environmental factors. In contrast, de novo mutations, or DNMs, are gene defects in offspring that neither parent possesses. They are the result of mechanical DNA copying errors, and occur infrequently in every human being during sperm and egg development, typically with no overall impact on human health.

However, on rare occasions, de novo mutations occur in a gene or genes indispensable for normal development and thus can have devastating consequences. This may be true of several of the genes affected by DNMs that are described in the newly published research. According to Shane McCarthy, Ph.D., a CSHL research investigator who is lead author of the new study, three genes found among the 42 affected children in the study AUTS2, CDH8 and MECP2 have been identified in prior genetic studies of people with autism. Two others, HUWE1 and TRAPPC9, have turned up in studies of people with intellectual disability.

Of these five "overlapping" genes, three (CHD8, MECP2 and HUWE1) have convergent function. They play roles in what scientists call the epigenetic regulation of transcription. That is, they are involved in the reading, writing and editing of chemical marks (called epigenetic marks) on DNA and proteins that help control when particular genes are switched on or off.

This makes the discovery particularly interesting, because "there's a growing awareness of the importance of epigenetic regulation during brain development, as well as in cognition in the mature brain," McCarthy points out. It is possible, the team speculates, that the genes found to affect the same biological function in multiple disorders are examples of those upon which normal brain development depends.

"Research made possible by the CSHL-Trinity College collaboration is leading us toward a much better understanding of how complex sets of genes are involved in complex illnesses," says McCombie, who is director of the Stanley Institute for Cognitive Genomics at CSHL. "Our work and that of other researchers, when taken together, is beginning to clarify our view of causation in these very complex, but also very common illnesses."

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Research sees overlap in genes altered in schizophrenia, autism, intellectual disability

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Genetic Engineering and Insulin
CSE 684 Assignment #3.

By: Amanda Tuss

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An overview of Genetic Engineering 2
Genetic Engineering 2 -- better workflows, more productive post.

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Genetic engineering and transgenic organisms

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PUBLIC RELEASE DATE:

30-Apr-2014

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, April 30, 2014James M. Wilson, MD, PhD (University of Pennsylvania Perelman School of Medicine, Philadelphia) has dedicated his research and medical career to developing gene therapy and the vectors needed to deliver genes into cells for the treatment and cure of inherited diseases. In recognition of his leadership and accomplishments, Dr. Wilson has received a Pioneer Award, bestowed by a blue ribbon panel*, from Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. Human Gene Therapy is commemorating its 25th anniversary by honoring the leading 12 Pioneers in the field of cell and gene therapy and publishing a Pioneer Perspective by each of the award recipients. The Perspective by Dr. Wilson is available on the Human Gene Therapy website.

In his essay "Genetic Diseases, Immunology, Viruses, and Gene Therapy," Dr. Wilson traces the path, motivating factors, and mentors and colleagues that led him from his early work identifying the mutations responsible for the devastating childhood disease Lesch-Nyhan syndrome (LNS) to the exploration of novel techniques and molecular tools for transferring therapeutic genes first into animals and then into humans. Since joining the faculty at the University of Pennsylvania more than 20 years ago, much of his research has focused on the development of adenoviral and adeno-associated viral vectors as vehicles for gene delivery.

Noting that the commercialization of gene therapy is still in its infancy, Dr. Wilson states that "We are entering a remarkable era of gene therapy research that will accelerate its development and lead to a number of commercial products across a spectrum of diseases." His laboratory has made seminal contributions to the basic biology of vectors and the development of current generation vector technologies that have enabled others to successfully move into the clinic.

"Dr. Wilson strongly deserves this accolade as an HGT pioneer of gene and cell therapy," says Deputy Editor George Dickson, BSc, PhD, University of London, Surrey. "His unparalleled contributions to the adenoviral and AAV vector fields over more than 25 years have been profound and seminal. Vectors from Dr. Wilson's lab at the University of Pennsylvania have been distributed around the globe, and are bearing fruit in viral vaccine and viral gene therapy areas spanning a plethora of disease targets."

###

*The blue ribbon panel of leaders in cell and gene therapy, led by Chair Mary Collins, PhD, MRC Centre for Medical Molecular Virology, University College London selected the Pioneer Award recipients. The Award Selection Committee selected scientists that had devoted much of their careers to cell and gene therapy research and had made a seminal contribution to the field--defined as a basic science or clinical advance that greatly influenced progress in translational research.

About the Journal

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James Wilson, M.D., Ph.D. receives Pioneer Award

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Irvine, CA (PRWEB) April 29, 2014

Proove Biosciences, the leader in Personalized Pain Medicine testing services, exhibited and presented clinical data on how proprietary genetic tests have been helping physicians improve patient pain treatment outcomes this weekend at The Valley Cancer Pain Foundations Third Annual Cancer Pain Conference. Proove is the only company exhibiting data on how company research and methods have been allowing doctors to utilize genetic analysis to make safer and more effective pain medication selection and dosing. At this weeks session, Proove Clinical Science Liaison, Derrick Holman, MD presented Proove research and provided medical education on the genetics of pain medicine.

As the only company presenting data on how genetic tests can improve the efficiency of pain medication and treatment, we were glad to participate in this weekends conference, stated Brian Meshkin, CEO and founder of Proove Biosciences. The Valley Cancer Pain Foundation does a wonderful job of providing an educational opportunity for pain clinicians, anesthesiologists, neurosurgeons, and hospice providers to learn about new technologies and best practices available in treating pain.

The annual conference is an industry gathering that aims to promote the most recent and relevant data and treatment options, and provide a forum to interact and discuss new and emerging evidence-based methods of improving access to and quality of care.

Proove continues to display industry leadership by publishing research showing how our unique genetic testing capabilities improve patient care. In the emerging field of pain medicine genetics, Proove is far outpacing other labs who continue to market run-of-the-mill drug metabolism genetic testing, stated Meshkin.

About Proove Biosciences Proove Biosciences is the leading Personalized Pain Medicine laboratory that provides proprietary genetic testing services to help physicians improve outcomes for patients and contain costs for insurers. With offices in Southern California and the Baltimore-Washington metropolitan area, the Company is the research leader investigating and publishing data on the genetics of pain medicine with clinical research sites across the United States. Physicians use Proove Biosciences testing to improve pain medicine selection, dosing, and evaluation of medications they prescribe. From a simple cheek swab collected in the office, Proove performs proprietary genetic tests in its CLIA-certified laboratory to identify patients at risk for misuse of prescription pain medications and evaluate their metabolism of medications. For more information, please visit http://www.proovebio.com or call toll free 855-PROOVE-BIO (855-776-6832).

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Proove Biosciences Presented Research and Data on How Genetic Testing Can Improve Pain Medicine Selection and Dosing

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Malaysia to open new budget airport in MH370 shadow

Sepang (Malaysia) (AFP) - Malaysia this week opens what it calls the world's largest airport built specifically for low-cost airlines, a project driven by budget travel's phenomenal growth but which debuts under the shadow of missing flight MH370. The $1.2 billion facility near the main Kuala Lumpur International Airport (KLIA) was originally targeted to open three years ago but has been hit by repeated delays, amid concerns over safety and subpar construction, even as costs have doubled. But the new KLIA2 budget terminal will begin operations Friday with an initial 56 flights, increasing the load as airlines move full operations over from a nearby existing facility in coming days. Its modern design features soaring ceilings, natural lighting, people-mover belts and improved connectivity with access to an existing express airport train to Kuala Lumpur 50 kilometres (31 miles) away.

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IBM, Coriell Life Sciences and CareKinesis Deliver Personalized Medicine to the Elderly Via the Cloud

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PUBLIC RELEASE DATE:

30-Apr-2014

Contact: Scott LaFee slafee@ucsd.edu 619-543-6163 University of California - San Diego

Numerous studies have suggested a relationship between cardiovascular disease risk factors and prostate cancer. A new study by researchers at the University of California, San Diego School of Medicine, with colleagues in Norway, significantly refines the association, highlighting genetic risk factors associated with low density lipoprotein (LDL) cholesterol and triglycerides as key players and identifying 17 related gene loci that make risk contributions to levels of these blood lipids and to prostate cancer

The findings, published in the April 30, 2014 online issue of the International Journal of Epidemiology, provide new insights into the pathobiology of prostate cancer and may point to novel therapies to lower blood lipid levels that might help prevent prostate cancer the second most common cause of cancer death among American men.

The research team, headed by senior authors Anders M. Dale, PhD, professor in the departments of radiology, neurosciences and psychiatry at the UC San Diego School of Medicine, and Ole Andreassen, professor of psychiatry at Oslo University, applied a genetic epidemiology method to assess statistics from multiple genome-wide association studies, looking for genetic overlap between the phenotypes for prostate cancer and cardiovascular disease (CVD) risk factors. In the case of the latter, they specifically investigated triglycerides, LDL and high density lipoprotein cholesterol, systolic blood pressure, body mass index, waist-hip ratio and type 2 diabetes.

The researchers also examined enrichment of single nucleotide polymorphisms bits of DNA that vary among individuals associated with prostate cancer and CVD risk.

LDL cholesterol and triglycerides displayed a strong association with prostate cancer.

"It's fair to say that risk relationships of various sorts have been proposed between prostate cancer and cardiovascular disease, although not comorbidity per se," said co-author Ian G. Mills, PhD, of the University of Oslo and Oslo University Hospital in Norway. "There is a lack of consistency across cohorts, however, in size and direction of effects, depending on cardiovascular risk factor considered. The significant risk association with LDL cholesterol and triglycerides versus the other traits at a genetic level was novel and unexpected."

Mills said the identification of 17 pleiotropic loci specific sites in the genome which may affect the expression of a number of genes and influence a range of biological pathways, in this case affecting both prostate cancer and cardiovascular disease risk was a key finding. He said the loci provide clues to the common regulatory elements that affect expression of disease-related genes. They may be incorporated into future disease risk test panels. And they might, ultimately, help shape "genetically stratified dietary or chemoprevention studies repurposing clinically approved drugs that regulate blood lipid levels" to alter the risk of developing prostate cancer, he said.

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Prostate cancer and blood lipids share genetic links

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By Vanessa Miller, The Gazette

Some patients with a suspected genetic disorder will go on what medical professionals call a diagnostic odyssey to find the cause of their symptoms.

But those explorations, on occasion, can come up empty, frustrating patients and prompting health care providers to seek outside expertise.

Last month, the Iowa Institute of Human Genetics at the University of Iowa began offering such expertise through whole exome sequencing.

The genetic test, which analyzes a portion of about 20,000 genes in the human genome in hopes of helping practitioners diagnose and treat a patient, is among several initiatives the institute is pursuing to further personalize medicine for patients in Iowa and across the country.

The research we do here is to develop new tests to bring precision medicine to the state, said Colleen Campbell, assistant director of the Iowa Institute of Human Genetics and associate with the UI Department of Otolaryngology.

Researchers with the institute also are conducting tests around secondary findings from exome sequencing the discovery of variants in genes unrelated to a patient's primary condition and how a person's genes interact with prescribed medication, including pain medication.

The technology is new, but officials with the Iowa institute said genetic sequencing one day could become so widely used that every infant will have it done as part of the standard newborn screen. Then, as a child grows, practitioners will be able to use the information to determine what type of pain medication to prescribe and at what level, for example.

Our focus is to bring innovation to the state, Campbell said. We want patients to be more informed when they go to the doctor and are offered these new tests. And we want to be able to offer this as a tool to doctors.

The Iowa Institute of Human Genetics is among only a dozen or so institutions nationally that offer whole exome sequencing to physicians wanting to order the test on behalf of a patient.

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University of Iowa hopes to better diagnose and treat patients

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Malaysia to open new budget airport in MH370 shadow

Sepang (Malaysia) (AFP) - Malaysia this week opens what it calls the world's largest airport built specifically for low-cost airlines, a project driven by budget travel's phenomenal growth but which debuts under the shadow of missing flight MH370. The $1.2 billion facility near the main Kuala Lumpur International Airport (KLIA) was originally targeted to open three years ago but has been hit by repeated delays, amid concerns over safety and subpar construction, even as costs have doubled. But the new KLIA2 budget terminal will begin operations Friday with an initial 56 flights, increasing the load as airlines move full operations over from a nearby existing facility in coming days. Its modern design features soaring ceilings, natural lighting, people-mover belts and improved connectivity with access to an existing express airport train to Kuala Lumpur 50 kilometres (31 miles) away.

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Hippocrates' ancient tree genetically 'fingerprinted'

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germing alphakronic genetics and purp widow
germing alphakronic genetics and purp widow.

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Genetics Wildhorse
description.

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FTB Monster - Episode 63 - Advanced Genetics
FTB Monster, A New Mod Pack from FTB containing 185+ Mods, making it one of the biggest Minecraft Mod packs around! Drop a LIKE for more FTB Monster! World Download - http://goo.gl/9sHjaX...

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The Sims 3 Perfect Genetics Challenge: Rules
OPEN FOR IMPORTANT LINKS AND INFO Like/Follow me on: ONLINE STORE: http://jessamica92.spreadshirt.com/ SECOND CHANNEL: http://www.youtube.com/user/JessaGames WEBSITE: http://www.jessamica...

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Dr. Thomas Merritt - Favourite Things about Genetics
Dr. Thomas Merritt answers the question, "What drew you into wanting to learn/discover more about human DNA and genetics?" submitted by students from St. Lew...

By: LetsTalkScience

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Iron fist genetics glove love
18 and older please glove love Thesocialgrow.com.

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Malaysia to open new budget airport in MH370 shadow

Sepang (Malaysia) (AFP) - Malaysia this week opens what it calls the world's largest airport built specifically for low-cost airlines, a project driven by budget travel's phenomenal growth but which debuts under the shadow of missing flight MH370. The $1.2 billion facility near the main Kuala Lumpur International Airport (KLIA) was originally targeted to open three years ago but has been hit by repeated delays, amid concerns over safety and subpar construction, even as costs have doubled. But the new KLIA2 budget terminal will begin operations Friday with an initial 56 flights, increasing the load as airlines move full operations over from a nearby existing facility in coming days. Its modern design features soaring ceilings, natural lighting, people-mover belts and improved connectivity with access to an existing express airport train to Kuala Lumpur 50 kilometres (31 miles) away.

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Myriad Genetics, Granite Construction, eBay, North American Palladium and Salix Pharmaceuticals highlighted as Zacks ...

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Ethics of Gene therapy

By: Jessi Santos

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Gene Therapy To Enhance Hearing - ABC Austrlia News - 2014 -
http://www.abc.net.au/am/content/2014/s3991064.htm Paper http://stm.sciencemag.org/content/6/233/233ra54.

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By Cathy Yarbrough, Contributing Editor

Gene therapy pioneer Katherine High, M.D., was looking forward to her first meeting in 2011 with Jeffrey Marrazzo, then a consultant to the CEO of Childrens Hospital of Philadelphia (CHOP). A veteran of three life sciences companies, Marrazzo was meeting with Dr. High and other CHOP leaders to identify potential new revenue streams for the hospital.

Dr. High, an international leader in gene therapy research and clinical application, had considered postponing the meeting because she was so busy with her work as director of the hospitals Center for Cellular and Molecular Therapeutics (CCMT). However, she did not reschedule because she wanted to ask Marrazzo for a favor: Could he speak with the VCs who were calling her and inquiring about investing in CCMTs work on RPE65?

I hadnt spoken to them yet, because at the time I was busier than usual with my patient care, research, and teaching responsibilities. In addition, VCs are not a constituency that I normally deal with, said Dr. High, professor of pediatrics at the University of Pennsylvania as well as a Howard Hughes medical investigator.

Scheduled to last just 60 minutes, Dr. Highs first meeting with Marrazzo stretched to seven hours and was followed by many more meetings to determine the best approach for advancing CCMTs gene therapy discoveries. The result was a commitment of $50 million from CHOP to fund a new biotech company, Spark Therapeutics, to design, evaluate, and commercialize gene therapies for disorders that can lead to blindness, hemophilia, and neurodegenerative diseases. The company, like the hospital, is headquartered in Philadelphia.

CHOPs serving as the sole equity investor in Spark is definitely a novel financing model for early corporate activities to develop novel therapeutics, said Marrazzo, now president, CEO, and cofounder of Spark. Every situation is unique, and the situation should dictate the model.

Sparks situation was unusual because long before the companys official launch in late 2013, many assets were already in place, said Marrazzo, who uncovered them during his seven-hour conversation with Dr. High. It was like peeling back the layers of an onion, with each layer representing another asset, he said.

The assets included two clinical trials, a Phase 3 trial to treat a rare form of hereditary blindness, and a Phase 1/2 trial targeting hemophilia B, as well as staff members with gene therapy expertise in regulatory affairs, clinical research, and the manufacture of clinical grade vectors to transport genetic material into targeted cells.

Assembled at the center were world experts in gene therapy, said Marrazzo. CHOP had been incubating a biotech company within its four walls.

GENE THERAPY ASSETS UNDERVALUED Before investing $50 million to launch and operate Spark Therapeutics, CHOP officials considered but ruled out a licensing deal with an existing biopharm company or a start-up with VC funding. While we did have licensing deals on the table, that route would not have recognized the value of the asset in part because of the broad retrenchment that had occurred in the industry after the tragic 1999 death of Jesse Gelsinger in a gene therapy clinical trial, said Dr. High. Gelsinger died while participating in a clinical trial conducted by a University of Pennsylvania lab not connected to CCMT or CHOP.

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Novel Financing For Gene Therapy Company

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The King Abdullah International Medical Research Center (KAIMRC) recently joined a conference on stem cell research and its application science and medicine, the Saudi Press Agency reported. The conference, which was organized by the Health Affairs at the National Guard, unveiled the latest discoveries and findings made by researchers at the stem cell and regenerative medicine unit at KAIMRC, the agency said. The conference was attended by several experts on stem cell research representing Saudi Arabia, the United States, Britain, France, Sweden, Italy, Australia and New Zealand. Ahmed Al-Askar, CEO of KAIMRC, said stem cell research is a broad topic that sheds light on how to best exploit human cells to treat diseases for certain organs, such as the liver, kidney or nerves. He said the current use of stem cells is centered on plantation for the treatment of certain types of leukemia, cancer and genetic diseases. Since its inception three years ago, the center has transplanted 200 cells following the creation of a program for transplanting stem cells in children and adults, he said. Saudi Arabia has the sole stem cell donation registry in Arab countries, compared with 60 cells donation registries globally, he said. The Saudi stem cell donation center is meant to attract potential donors from Arab countries, he said. We have had 5,000 donors so far. He said some 400 scientists and experts are working at the center, while another 40 physicians have been dispatched on scholarships to acquire training and specialization. Al-Askar expressed optimism over the future of stem cell use and its contribution to the treatment of a variety of diseases, such as diabetes, cancer, pulmonary and hepatic fibrosis and neurological and cardiovascular disorders.

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(MENAFN - Arab News) The king abdullah international medical research center (kaimrc) recently joined a conference on stem cell research and its application science and medicine the saudi press agency reported.

the conference which was organized by the health affairs at the national guard unveiled the latest discoveries and findings made by researchers at the stem cell and regenerative medicine unit at kaimrc the agency said.

the conference was attended by several experts on stem cell research representing saudi arabia the united states britain france sweden italy australia and new zealand.

ahmed al-askar ceo of kaimrc said stem cell research is a broad topic that sheds light on how to best exploit human cells to treat diseases for certain organs such as the liver kidney or nerves.

he said the current use of stem cells is centered on plantation for the treatment of certain types of leukemia cancer and genetic diseases.

since its inception three years ago the center has transplanted 200 cells following the creation of a program for transplanting stem cells in children and adults he said.

saudi arabia has the sole stem cell donation registry in arab countries compared with 60 cells donation registries globally he said.

'the saudi stem cell donation center is meant to attract potential donors from arab countries" he said. 'we have had 5000 donors so far."

he said some 400 scientists and experts are working at the center while another 40 physicians have been dispatched on scholarships to acquire training and specialization.

al-askar expressed optimism over the future of stem cell use and its contribution to the treatment of a variety of diseases such as diabetes cancer pulmonary and hepatic fibrosis and neurological and cardiovascular disorders.

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Saudi- Conference to shed light on latest stem cell applications

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Personalized Medicine Today: Dr. Gareth Morgan Breaks It Down
Risk stratification. Co-morbidities. Genetic mutations. Which of these is your doctor talking about when they talk about personalized, or individualized, medicine? Dr. Gareth Morgan thinks...

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Update for Arachnoiditis (spinal cord injury) Survivor Project
Answering a few questions that I have been asked since I began the project. Please submit your tax-deductible contribution before May 17,2014 Donate/details ...

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PUBLIC RELEASE DATE:

28-Apr-2014

Contact: Franca Davenport f.davenport@imperial.ac.uk 020-759-42198 Imperial College London

New research looking at the success of clinical trials of stem cell therapy shows that trials appear to be more successful in studies where there are more discrepancies in the trial data.

Researchers from Imperial College London conducted a meta-analysis of 49 randomised controlled trials of bone marrow stem cell therapy for heart disease. The study, published today in the British Medical Journal, identified and listed over 600 discrepancies within the trial reports.

Discrepancies were defined as two (or more) reported facts that could not both be accurate because they were logically or mathematically incompatible. For example, one trial reported that it involved 70 patients, who were divided into two groups of 35 and 80.

The researchers found eight trials that each contained over 20 discrepancies.

The researchers found that the discrepancy count in a trial was the most important determinant of the improvement in cardiac function reported by that trial. Trials with fewer and fewer discrepancies showed progressively smaller improvements in cardiac function. The five trials with no discrepancies at all showed an effect size of zero (see bar chart in Notes to Editors).

Previous meta-analyses looking at the results of lots of clinical trials have suggested that on average, bone marrow stem cell therapy has a significant positive effect on improving heart function. However, some trials have shown that it successfully improves heart function whilst others have not. The reasons for this are unclear.

Professor Darrel Francis, one of the study authors from the National Heart and Lung Institute at Imperial College London, said: "Clinical trials involve a huge amount of data and so it is understandable that discrepancies sometimes arise when researchers are presenting their findings. However, our study suggests that these discrepancies can have a significant impact on the overall results. It is a powerful reminder to all of us conducting clinical trials to be careful and vigilant to avoid discrepancies appearing in the work.

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Study of stem cell trials links discrepancies in data with reported success of treatment

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