A DNA molecule strand with human genome code. Photograph: Steven Hunt/Getty Images

The unravelling of the human genetic blueprint has delivered a revolution in the study of health and disease. It is having an impact on treatments today and this will carry forward well into the coming century, a Nobel Prize winner has said.

Prof Aaron Ciechanover was speaking yesterday on the margins of a research conference under way at the Trinity Biomedical Sciences Institute in Dublin. He won a shared Nobel Prize in chemistry in 2004 for his study of how the body breaks down and disposes of unwanted proteins.

We are part of a revolution that will change the whole world of medicine, he said. New methods that grew out of molecular biology now help scientists discover the underlying genetic causes of disease and then identify drugs that might help in treatments. And it will help deliver drugs with fewer side effects, he said.

But we are also entering a period when privacy will be a thing of the past, when your genetic blueprint will reveal things hidden in the genome, he said. It will also separate sex from reproduction given access to advanced technologies. It is going to be major, he said.

Molecular biology will also help support personalised medicine, said Prof Bruce Beutler who shared the 2011 prize in medicine and physiology. Many genetic diseases like type II diabetes and rheumatoid arthritis are caused by an unlucky combination of [altered] genes, he said. But the mix of 100 or 200 that causes it in one person may be different in the next.

Once the combination is established the most effective drug treatment can be provided for that individual. That is what personalised medicine will be in the future, he said.

It is hugely important that all governments fund basic research, suggested Prof Jules Hoffmann, who shared the 2011 Nobel Prize in medicine and physiology for his work on the immune system.

When he started research 40 years ago no one doubted the value of discoveries that came from it. This has changed everywhere, he said. It was a mistake to abandon basic research in favour of translational research, he warned, however.

I am absolutely convinced every country needs applied research, he said, but applied research can arise only through conducting basic research. All of the big medical research discoveries arise as a result of basic research, he said.

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Genetics research to revolutionise medicine, says Nobel laureate

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PUBLIC RELEASE DATE:

28-Jul-2014

Contact: Gina DiGravio gina.digravio@bmc.org 617-638-8480 Boston University Medical Center

(Boston)-- Researchers from Boston University School of Medicine (BUSM) report variants in a new gene, PLXNA4, which may increase the risk of developing Alzheimer's disease (AD). The discovery of this novel genetic association may lead to new drug treatment options that target PLXNA4 specifically. These findings appear in the Annals of Neurology.

AD is the most frequent age-related dementia affecting 5.4 million Americans including 13 percent of people age 65 and older, and more than 40 percent of people age 85 and older. Genetic factors account for much of the risk for developing AD with heritability estimates between 60 percent and 80 percent. However much of the genetic basis for the disease is unexplained. Less than 50 percent of the genetic contribution to AD is supported by known common genetic variations.

Using data from the Framingham Heart Study, the researchers obtained strong evidence of an association with several single nucleotide polymorphism in PLXNA4, a gene which had not been previously linked to AD. They then confirmed this finding in a larger dataset from the Alzheimer's Disease Genetics Consortium and other datasets. Next, they performed a series of experiments in models that pinpointed the mechanism by which this gene affects AD risk. "Importantly, this is one of few single studies which go from gene finding to mechanism," explained corresponding author Lindsay Farrer, PhD, Chief of Biomedical Genetics and professor of medicine, neurology, ophthalmology, epidemiology and biostatistics at BUSM.

According to the researchers a form of the protein encoded by this gene promotes formation of neurofibrillary tangles consisting of decomposed tau protein, one of the two pathological hallmarks of the disease. "We showed that PLXNA4 affects the processing of tau as it relates to neurofibrillary tangles, the primary marker of AD. Most drugs that have been developed or that are in development for treating AD are intended to reduce the toxic form of beta-amyloid, a sticky substance that accumulates in the brain of persons with AD, and none have been very effective. Only a few drugs have targeted the tau pathway," added Farrer.

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This study was supported by grants from the National Institute on Aging (R01-AG025259, P30-AG13846, R01-AG0001, U24-AG021886, U24-AG26395, R01-AG041797 and P50-AG005138), the Alzheimer Association, the Korean Health Technology R&D Project, Ministry of Health & Welfare, Republic of Korea (#A110742), and the Evans Center for Interdisciplinary Biomedical Research (ECIBR) ARC on "Protein Trafficking and Neurodegenerative Disease" at Boston University.

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Researchers identify potential biomarker for AD

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Irvine, CA and Annapolis Junction, MD (PRWEB) July 28, 2014

Proove Biosciences, the commercial and research leader in personalized medicine, will be exhibiting data and research conducted through their latest proprietary testing services at this years International Spine Intervention Societys (ISIS) 22nd Annual Scientific Meeting. The event will take place July 30th-August 3rd, at the Hyatt Regency, in Orlando, Florida.

The meeting is designed to enhance the knowledge and clinical competence of physicians who care for patients suffering specificity from spine pain. The premier event will focus on the latest evidence-based findings, current research, and the future of the field.

The International Spine Intervention Society is an industry leading organization dedicated to promoting the latest and most effective options for the treatment of pain from spine injury and disease, stated Proove Biosciences CEO, Brian Meshkin. Proove Biosciences has been recognized as a leader in personalized pain medicine and genetic testing, and uses evidence-based research to help physicians and patients better understand and treat their pain.

Major components of this years forum will be emerging and alternative technologies in interventional spine care; how to prepare your practice in using outcome-based medicine and registries; and multiple research presentations.

We are looking forward to exhibiting and explaining how our research is helping patients better manage and understand their pain, while lowering the associated healthcare costs and increasing prescription efficiency.

About Proove Biosciences

Our mission is to change the future of medicine by providing proof to improve healthcare decisions. We envision a future when clinicians will know how patients are likely to respond to medications before writing a prescription. We believe such knowledge can be provided by genetic testing: Using a simple cheek swab, Proove performs proprietary genetic tests in its CLIA-certified laboratory. Healthcare providers use the results to evaluate how their patients will metabolize medications, and to screen for the likelihood of medication misuse.

Founded in 2009 with offices in Southern California and the Baltimore-Washington metropolitan area, Proove Biosciences is the leader in genetics-related personalized pain medicine research with hundreds of clinical research sites across the U.S. For more information, please visit http://www.proovebio.com or call toll free 855-PROOVE-BIO (855-776-6832).

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STEM CELL THERAPY SUPERNOVA
We implant EMBRYONIC STEM CELLS from our STEM CELL BANK This is state-of-the-art ADVANTAGE for it eliminates the suffering and pain from liposuction(fat removal) or bone marrow extraction,...

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Kellie van Meurs, pictured with her husband Mark, died while undergoing stem cell treatment in Russia. Photo: Facebook

Supporters of a Brisbane mother-of-two who died while undergoing a controversial stem cell treatment in Russia say it did not cause her death, nor have others been discouraged from seeking it.

Kellie van Meurs suffered from a rare neurological disorder called stiff person syndrome, which causes progressive rigidity of the body and chronic pain.

She travelled to Moscow in late June to undergo an autologous haematopoietic stem cell transplant (HSCT) under the care of Dr Denis Fedorenko from the National Pirogov Medical Surgical Centre.

Kellie van Meurs, pictured with family and supporters, died while undergoing stem cell treatment in Russia. Photo: Facebook

The transplant more commonly used for multiple sclerosis patients involves rebooting a patients immune system with their own stem cells after high-dose chemotherapy.

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Ms van Meurs was Dr Fedorenkos first SPS patient, and her husband Mark said she died of a heart attack on July 19.

I do know that Rosemary [Ms van Meurs' aunt and carer in Moscow] felt she received the best possible care, especially from Dr Fedorenko, he said.

Given her level of constant pain and overlapping auto-neuronal problems I still don't think we had a better option.

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San Diego, CA (PRWEB) July 25, 2014

WABC Radio show out of New York City, A Paws For Your Pet with Lorry Young will be hosting California-based Vet-Stem, Inc.s Founder and CEO, Robert J. Harman, DVM, to talk about stem cell therapy in pets. Dr. Harman first visited the show in November 2013 to discuss the benefits of stem cell therapy for pets suffering from osteoarthritis and other degenerative diseases, as well as recent developments moving the Regenerative Veterinary Medicine industry forward.

Young has invited Dr. Harman back to dial down into specific case studies and success stories of the over 10,000 dogs, cats, horses and exotic animals that Vet-Stems services have treated in the last decade. Moose, a Labrador Retriever Mix, is one of those special pet patients in the New York City area that was treated with Vet-Stem Regenerative Cell Therapy for arthritis caused by elbow dysplasia, and arthritic bone growth.

When Mooses owners noticed decreased mobility, lameness, and an increasingly lower tolerance for other dogs they brought Moose to local veterinarian Alex Klein to explore solutions. As many as 65% of dogs between the ages of 7 and 11 years old are inflicted with some degree of arthritis. Certain specific breeds, much like Moose, are reported to have as high of a percentage as 70 in being diagnosed with arthritis.

Stem cell therapy has been proven to help with the pain of arthritis in pets because it decreases inflammation, regenerates damaged tissues, and restores range of motion. An owner survey showed that greater than 80% of dogs treated for osteoarthritis in one or more leg joints with Vet-Stem Regenerative Cell Therapy showed an improved quality of life. Dogs like Moose have a small amount of fat collected by their veterinarian, which is sent overnight to Vet-Stems lab. There, the fat is separated from the stem cells and injectable doses of concentrated stem cells are sent back to the veterinarian overnight. Within 48 hours Moose received injections in his arthritic joints and the healing process began.

This ability to improve on a pets quality of life is why Dr. Harman is so passionate about sharing stories with other animal enthusiasts such as Young and her radio audience. Pet-spert, Young offers a special look into the latest techniques, treatments, and options that will enable listeners to provide their pets with a safer, healthier, and happier life. Produced and hosted by Young, A Paws For Your Pet, helps listeners answer any potential questions they may have regarding the health and well-being of their beloved pet, and hosts experts in the industry like Dr. Harman regularly.

About Vet-Stem, Inc. Since its formation in 2002, Vet-Stem, Inc. has endeavored to improve the lives of animals through regenerative medicine. As the first company in the United States to provide an adipose-derived stem cell service to veterinarians for their patients, Vet-Stem pioneered the use of regenerative stem cells for horses, dogs, cats, and some exotics. In 2004 the first horse was treated with Vet-Stem Regenerative Cell Therapy for a tendon injury that would normally have been career ending. Ten years later Vet-Stem celebrated its 10,000th animal treated, and the success of establishing stem cell therapy as a proven regenerative medicine for certain inflammatory, degenerative, and arthritic diseases. As animal advocates, veterinarians, veterinary technicians, and cell biologists, the team at Vet-Stem tasks themselves with the responsibility of discovering, refining, and bringing to market innovative medical therapies that utilize the bodys own healing and regenerative cells. For more information about Vet-Stem and Regenerative Veterinary Medicine visit http://www.vet-stem.com or call 858-748-2004.

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Robert J. Harman, DVM, Founder and CEO of Vet-Stem, Inc. to Join New York Radio Host Lorry Young in Upcoming Episode ...

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Scientists at The New York Stem Cell Foundation (NYSCF) Research Institute are one step closer to creating a viable cell replacement therapy for multiple sclerosis from a patient's own cells.

For the first time, NYSCF scientists generated induced pluripotent stem (iPS) cells lines from skin samples of patients with primary progressive multiple sclerosis and further, they developed an accelerated protocol to induce these stem cells into becoming oligodendrocytes, the myelin-forming cells of the central nervous system implicated in multiple sclerosis and many other diseases.

Existing protocols for producing oligodendrocytes had taken almost half a year to produce, limiting the ability of researchers to conduct their research. This study has cut that time approximately in half, making the ability to utilize these cells in research much more feasible.

Stem cell lines and oligodendrocytes allow researchers to "turn back the clock" and observe how multiple sclerosis develops and progresses, potentially revealing the onset of the disease at a cellular level long before any symptoms are displayed. The improved protocol for deriving oligodendrocyte cells will also provide a platform for disease modeling, drug screening, and for replacing the damaged cells in the brain with healthy cells generated using this method.

"We are so close to finding new treatments and even cures for MS. The enhanced ability to derive the cells implicated in the disease will undoubtedly accelerate research for MS and many other diseases," said Susan L. Solomon, NYSCF Chief Executive Officer.

"We believe that this protocol will help the MS field and the larger scientific community to better understand human oligodendrocyte biology and the process of myelination. This is the first step towards very exciting studies: the ability to generate human oligodendrocytes in large amounts will serve as an unprecedented tool for developing remyelinating strategies and the study of patient-specific cells may shed light on intrinsic pathogenic mechanisms that lead to progressive MS." said Dr. Valentina Fossati, NYSCF -- Helmsley Investigator and senior author on the paper.

In multiple sclerosis, the protective covering of axons, called myelin, becomes damaged and lost. In this study, the scientists not only improved the protocol for making the myelin-forming cells but they showed that the oligodendrocytes derived from the skin of primary progressive patients are functional, and therefore able to form their own myelin when put into a mouse model. This is an initial step towards developing future autologous cell transplantation therapies in multiple sclerosis patients

This important advance opens up critical new avenues of research to study multiple sclerosis and other diseases. Oligodendrocytes are implicated in many different disorders, therefore this research not only moves multiple sclerosis research forward, it allows NYSCF and other scientists the ability to study all demyelinating and central nervous system disorders.

"Oligodendrocytes are increasingly recognized as having an absolutely essential role in the function of the normal nervous system, as well as in the setting of neurodegenerative diseases,such as multiple sclerosis. The new work from the NYSCF Research Institute will help to improve our understanding of these important cells. In addition, being able to generate large numbers of patient-specific oligodendrocytes will support both cell transplantation therapeutics for demyelinating diseases and the identification of new classes of drugs to treat such disorders," said Dr. Lee Rubin, NYSCF Scientific Advisor and Director of Translational Medicine at the Harvard Stem Cell Institute.

Multiple sclerosis is a chronic, inflammatory, demyelinating disease of the central nervous system, distinguished by recurrent episodes of demyelination and the consequent neurological symptoms. Primary progressive multiple sclerosis is the most severe form of multiple sclerosis, characterized by a steady neurological decline from the onset of the disease. Currently, there are no effective treatments or cures for primary progressive multiple sclerosis and treatments relies merely on symptom management.

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Cell therapy for multiple sclerosis patients: Closer than ever?

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Millions of people in the United States have a circulatory problem of the legs called peripheral vascular disease. It can be painful and may even require surgery in serious cases. This disease can lead to severe skeletal muscle wasting and, in turn, limb amputation.

At The University of Texas Health Science Center at Houston (UTHealth) Medical School, scientists tested a non-surgical preventative treatment in a mouse model of the disease and it was associated with increased blood circulation. Their proof-of-concept study appears in the journal Cell Reports.

Unlike previous studies in which other investigators used individual stimulatory factors to grow blood vessels, Vihang Narkar, Ph.D., senior author and assistant professor in the Department of Integrative Biology and Pharmacology at the UTHealth Medical School, identified and turned off a genetic switch that stifles blood vessel development.

"We discovered an inhibitory switch that degrades blood vessels," said Narkar, whose laboratory is in the UTHealth Center for Metabolic and Degenerative Diseases at The Brown Foundation Institute of Molecular Medicine for the Prevention of Human Diseases. "We were able to genetically turn it off to prevent peripheral vascular disease in a preclinical study."

Added Narkar, "Our next step will be to test this targeted treatment in models of other conditions that dramatically decrease circulation like diabetes and atherosclerosis."

Narkar said using individual growth factors to stimulate blood vessel growth often leads to the formation of leaky and non-functional blood vessels. "By turning off a genetic switch that acts as a roadblock for blood vessel growth, we were able to trigger and accelerate the natural process of blood vessel regeneration that involves a battery of growth factors," he said.

The switch is called peroxisome proliferator-activated receptor gamma co-activator 1 beta (PGC1beta) and could be a key to future treatments for additional conditions like cardiac myopathies, cancer and retinopathy.

Story Source:

The above story is based on materials provided by University of Texas Health Science Center at Houston. Note: Materials may be edited for content and length.

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Genetic switch discovered that can prevent peripheral vascular disease in mice

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Schizophrenia #39;s genetics revealed
University of Queensland scientists are closer to effective treatments for schizophrenia after uncovering dozens more locations across the human genome that ...

By: The University of Queensland

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Bad Genetics or Hardgainer Belief
People often talk about bad genetics and why they can #39;t do something. So today we are going to talk about those bad genetics Seeking Online Personal Training - http://bodyflip.webs.com Products:...

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PUBLIC RELEASE DATE:

25-Jul-2014

Contact: Raeka Aiyar, Ph.D. press@genetics-gsa.org 202-412-1120 Genetics Society of America

SEATTLE, WA Nearly 600 scientists from 25 countries and 35 states will attend the 2014 Yeast Genetics Meeting organized by the Genetics Society of America (GSA) next week at the University of Washington in Seattle. The conference will feature close to 500 presentations (including 70 talks) of cutting-edge research results on topics including gene expression and regulation, functional genomics, chemical biology and drug discovery, emerging technologies, evolution, aging, and a variety of diseases.

Of special note are renowned scientists whose contributions to the field of genetics will be honored through several awards and named lectures: George Church (Harvard University), Olga Troyanskaya (Princeton University), Jeremy Thorner (University of California, Berkeley), and Anita Hopper (Ohio State University). Awardees will present their innovative research to all conference participants. In addition, the Genetics Society of America will present the 2013 Elizabeth W. Jones Award for Excellence in Education to Malcolm Campbell and the 2014 Edward Novitski Prize to Charlie Boone.

Jon Lorsch, director of NIH's National Institute of General Medical Sciences (NIGMS), will deliver a special presentation on the role of basic biological studies in advancing biomedical research and future efforts planned at NIGMS. In addition, the community will pay special tribute to the late Fred Sherman, a distinguished researcher who helped establish the widespread use of yeast as a genetics model system and who made several groundbreaking contributions to modern genetics.

The baker's yeast (also known as budding yeast) Saccharomyces cerevisiae is an indispensable model organism that has driven our understanding of genetics, molecular biology, and cellular biology. This versatile organism is used in laboratories worldwide, largely because of its amenability to genetic manipulation. Yeast is a single-celled eukaryote, making it one of the simplest systems to study this large domain of life that includes all plants and animals. As a result, research with yeast has yielded revolutionary insights into a variety of important biological principles also found in humans, including how genes exert their function, the effects of genetic variation in a population, molecular and metabolic responses to environmental stimuli, how networks of genes and proteins interact to drive key biological processes, and the molecular basis for multifactorial traits like fitness and disease.

One of the reasons that S. cerevisiae has spurred so many breakthroughs in biological research is its use a workhorse for pioneering new technologies readily adopted across academia and industry. The industrial applications of yeast are numerous, including biotechnology, biofuels, fermentation for wine and beer production, baking, and pharmaceutics. The 2014 Yeast Genetics Meeting will integrate the areas in which yeast has been instrumental as a model system or industrial tool.

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For additional information, please see the conference website athttp://www.genetics-gsa.org/yeast/2014/.

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Yeast meeting to showcase latest breakthroughs in genetics and molecular biology

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FP Genetics and Paterson Grain are rolling out a demonstration program for a new hybrid fall rye in Manitoba.

The new hybrid, dubbed Brasetto, yields about 25 per cent higher than existing varieties, says Ron Weik, seed portfolio manager with FP Genetics. Brasetto is also four to six inches shorter than Hazlet, he adds. And its a lot more consistent in the height.

KWS, a German-based rye breeder, gave FP Genetics the new cereal. Brasetto is a European variety, Weik says, but it has been through the Canadian registration system, and was registered in July.

So its been grown for several years in Western Canada just in small plots, of course but the winter survival has been every bit as good as the varieties we have here at this time, says Weik.

Brasettos ergot susceptibility seems to be the same as existing varieties, Weik says. But the new variety does have some improved quality characteristics. Its got quite a bit better bread-making qualities.

Ken Mudry, manager of customer marketing at Paterson Grain, says it will be distributing seed in Manitoba.

Its very limited. Well have the equivalent of about 1,500 acres worth of seed for this upcoming fall, says Mudry. End-use customers will try small quantities of Brasetto next year to see how the rye fits into their product portfolios.

Mudry acknowledges the rye market isnt very big. However, we see an opportunity. North America does import rye from Europe. So its our objective to see if we can supply that market, cut off that import.

Were looking forward to seeing how it performs, says Mudry.

Lisa Guenther is a field editor for Grainews

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Hybrid rye to be tested in Manitoba

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July 25, 2014

Image Caption: A reconstructed beating heart of a zebrafish embryo with the muscle layer (myocardium) in red and the endothelium (endocardium and vasculature) in cyan. Credit: MPI f. Molecular Cell Biology and Genetics/ Huisken

Max-Planck-Gesellschaft, Mnchen

Researchers of the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden report how they managed to capture detailed three-dimensional images of cardiac dynamics in zebrafish. The novel approach: They combine high-speed Selective Plane Illumination Microscopy (SPIM) and clever image processing to reconstruct multi-view movie stacks of the beating heart. Furthermore, they have developed a method of generating high-resolution static reconstructions of the zebrafishs heart: the Dresden research team used optogenetics to stop the beating heart by illuminating it with light. Non-periodic phenomena such as irregularly beating hearts and the flow of blood cells are resolved by high-speed volume scanning using a liquid lens. This work is set to be key in our understanding of congenital heart defects as well in future experiments on cardiac function and development.

Until recently, available microscopes were too slow to capture a beating heart in 3D. Now, the team led by research group leader Jan Huisken at the Max Planck Institute of Molecular Cell Biology and Genetics has developed a high-speed, selective plane illumination microscope that manages to do just that. By gently illuminating the fish heart with a thin light sheet and observing the emitted fluorescence with a fast and sensitive camera the researchers have achieved fast, non-invasive imaging of labelled heart tissue. The process involves taking multiple movies, each covering individual planes of the heart (movie stacks), then using the correlations between the individual planes to generate a synchronized, dynamic 3D image of the beating heart.

The team also obtained static high-resolution reconstructions by briefly stopping the heart with optogenetics. This procedure does not harm the fish zebrafish embryos can survive a cardiac arrest of several hours. These renderings allow us to further follow characteristic structures of the heart throughout the cardiac cycle, says Michaela Mickoleit, PhD student who performed the experiments in Huiskens lab. For instance, they now can clearly observe cardiac contractions or the distance between endo- and myocardium throughout the heartbeat. By manipulating the exposure time and magnification of the images, better resolution could be achieved and fine details such as sarcomeres and filamentous actin could also be resolved. Finally, they then also went on to resolve non-periodic phenomena by high-speed volume scanning with a liquid lens. For the first time, it has become possible to also image diseased hearts that exhibit arrhythmia exciting news for cardiologists.

The team at the Max Planck Institute of Molecular Cell Biology and Genetics has developed a fantastic array of tools to image the heart in vivo, ranging from static to ultra-high-speed images. Their work offers potentially revolutionary insights into the cellular structure of the beating heart and are set to further improve our knowledge of congenital heart defects.

Original Publication:

M. Mickoleit, B. Schmid, M. Weber, F.O. Fahrbach, S. Hombach, S. Reischauer, J. Huisken, High-resolution reconstruction of the beating zebrafish heart, Nature Methods, 20 July 2014.

Source: Max-Planck-Gesellschaft, Mnchen

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Apollo Hospitals Launches Strand #39;s Clinical Genomic Tests for personalized Medicine exclusive 4
Apollo Hospitals Launches Strand #39;s Clinical Genomic Tests for personalized Medicine exclusive 4.

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Apollo Hospitals Launches Strand #39;s Clinical Genomic Tests for personalized Medicine exclusive 2
Apollo Hospitals Launches Strand #39;s Clinical Genomic Tests for personalized Medicine exclusive 2.

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Apollo Hospitals Launches Strand #39;s Clinical Genomic Tests for personalized Medicine exclusive 3
Apollo Hospitals Launches Strand #39;s Clinical Genomic Tests for personalized Medicine exclusive 3.

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Life Rolls On, They Will Surf Again, La Jolla 7.12.14
Life Rolls On is a non-profit organization dedicated to improving the quality of life for young people affected by spinal cord injury and utilizes action sports as a platform to demonstrate...

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Paying Forward the Gift of Life: Jorge and Leslie Bacardi
With their gift to regenerative medicine, Jorge and Leslie Bacardi join Mayo Clinic in writing the next chapter in organ transplantation, as well as advancing new surgical techniques and therapies...

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July 25, 2014

University of Cambridge

The age at which girls reach sexual maturity is influenced by imprinted genes, a small sub-set of genes whose activity differs depending on which parent passes on that gene, according to new research published this week in the journal Nature.

The findings come from an international study of more than 180,000 women involving scientists from 166 institutions worldwide, including the University of Cambridge. The researchers identified 123 genetic variations that were associated with the timing of when girls experienced their first menstrual cycle by analyzing the DNA of 182,416 women of European descent from 57 studies. Six of these variants were found to be clustered within imprinted regions of the genome.

Lead author Dr. John Perry at the Medical Research Council (MRC) Epidemiology Unit, University of Cambridge says: Normally, our inherited physical characteristics reflect a roughly average combination of our parents genomes, but imprinted genes place unequal weight on the influence of either the mothers or the fathers genes. Our findings imply that in a family, one parent may more profoundly affect puberty timing in their daughters than the other parent.

The activity of imprinted genes differs depending on which parent the gene is inherited from some genes are only active when inherited from the mother, others are only active when inherited from the father. Both types of imprinted genes were identified as determining puberty timing in girls, indicating a possible biological conflict between the parents over their childs rate of development. Further evidence for the parental imbalance in inheritance patterns was obtained by analyzing the association between these imprinted genes and timing of puberty in a study of over 35,000 women in Iceland, for whom detailed information on their family trees were available.

This is the first time that it has been shown that imprinted genes can control rate of development after birth.

Dr. Perry says: We knew that some imprinted genes control antenatal growth and development but there is increasing interest in the possibility that imprinted genes may also control childhood maturation and later life outcomes, including disease risks.

Senior author and pediatrician Dr. Ken Ong at the MRC Epidemiology Unit says: There is a remarkably wide diversity in puberty timing some girls start at age 8 and others at 13. While lifestyle factors such as nutrition and physical activity do play a role, our findings reveal a wide and complex network of genetic factors. We are studying these factors to understand how early puberty in girls is linked to higher risks of developing diabetes, heart disease and breast cancer in later life and to hopefully one day break this link.

Dr. Anna Murray, a co-author from the University of Exeter Medical School, adds: We found that there are hundreds of genes involved in puberty timing, including 29 involved in the production and functioning of hormones, which has increased our knowledge of the biological processes that are involved, in both girls and boys.

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Age Of Puberty In Girls Influenced By Which Parent Their Genes Are Inherited From

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Ch. 13 Genetic Engineering
This video covers Ch. 13 from the Prentice Hall Biology textbooks.

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PUBLIC RELEASE DATE:

25-Jul-2014

Contact: Dipali Pathak pathak@bcm.edu 713-798-4710 Baylor College of Medicine

Houston -- Cancer has long been thought to be primarily a genetic disease, but in recent decades scientists have come to believe that epigenetic changes which don't change the DNA sequence but how it is 'read' also play a role in cancer. In particular DNA methylation, the addition of a methyl group (or molecule), is an epigenetic switch that can stably turn off genes, suggesting the potential to cause cancer just as a genetic mutation can. Until now, however, direct evidence that DNA methylation drives cancer formation was lacking.

Researchers at the USDA/ARS Children's Nutrition Research Center at Baylor College of Medicine and Texas Children's Hospital have now created a mouse model providing the first in vivo evidence that epigenetic alterations alone can cause cancer. Their report appears today in the Journal of Clinical Investigation.

"We knew that epigenetic changes are associated with cancer, but didn't know whether these were a cause or consequence of cancer. Developing this new approach for 'epigenetic engineering' allowed us to test whether DNA methylation changes alone can drive cancer," said Dr. Lanlan Shen, associate professor of pediatrics at Baylor and senior author of the study.

Shen and colleagues focused on p16, a gene that normally functions to prevent cancer but is commonly methylated in a broad spectrum of human cancers. They devised an approach to engineer DNA methylation specifically to the mouse p16 regulatory region (promoter). As intended, the engineered p16 promoter acted as a 'methylation magnet'. As the mice reached adulthood, gradually increasing p16 methylation led to a higher incidence of spontaneous cancers, and reduced survival.

"This is not only the first in vivo evidence that epigenetic alteration alone can cause cancer," said Shen. "This also has profound implications for future studies, because epigenetic changes are potentially reversible. Our findings therefore both provide hope for new epigenetic therapies and validate a novel approach for testing them."

Shen, who is also with the NCI-designated Dan L. Duncan Cancer Center at Baylor, predicts that this new approach will be widely useful because in addition to p16, there are many other genes and diseases other than cancer that are connected to epigenetics (such as neurodevelopmental diseases, obesity and diabetes). Just as genetic engineering has become a standard approach for studying how genetic mutations cause disease, epigenetic engineering will now enable functional studies of epigenetics.

"This opens up the door for a whole new paradigm of how to understand tumorigenesis. If we can identify epigenetic changes that predispose people to cancer, these may actually be treatable or preventable, so this opens up a lot of optimism in new ways to deal with cancer," said Dr. Robert Waterland, associate professor of pediatrics at Baylor, who was also involved in the study.

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Newswise LOS ANGELES (July 24, 2014) Like other major research centers studying genetic causes of uncommon and poorly understood nervous system disorders, Cedars-Sinai maintains a growing collection of DNA and tissue samples donated by patients.

What sets Cedars-Sinais Repository of Neurologic and Neuromuscular Disorders apart is its special emphasis on tissue collection part of its focus on creating future individualized treatments for patients.

One of our major priorities is to advance the concept of personalized medicine. The idea is to take DNA from a patient, look at the cells derived from their tissue, and try to understand why this particular person got this disease. Then we can determine which therapy or therapies would work for each individual by first testing their cells. Many centers look at the genetics; ours is dedicated to looking at the genetics and the patients tissues, combining the two to understand how to treat the disease, said Robert H. Baloh, MD, PhD, director of neuromuscular medicine in the Department of Neurology and director of the ALS Program for research and treatment of amyotrophic lateral sclerosis, or Lou Gehrigs disease.

This individualized treatment approach depends on collaborative efforts among doctors and researchers who treat and study individual diseases and scientists at the Cedars-Sinai Regenerative Medicine Institute, one of a very few hospital-based centers devoted to stem cell research. The teams work together to discover disease-generating molecular and cellular defects, make disease-in-a-dish models and begin to fashion personalized stem cell-based research interventions.

We know that nearly every disease has some genetic component some more than others so we collect DNA for research to identify those genetic elements. But weve also expanded our focus to include the collection of skin and blood samples that can be turned into specialized stem cells. Patients are usually very willing to donate tissue to try and help us understand the causes of their neurologic or neuromuscular disease, said Baloh, a member of the Brain Program at the Regenerative Medicine Institute.

Baloh and colleagues recently showed this approach is feasible, using skin biopsies from patients with ALS. With induced pluripotent stem cells, or iPSCs, they created ALS neurons in a lab dish. Then, inserting molecules made of small stretches of genetic material, they blocked the damaging effects of a defective gene. This provided proof of concept for a new therapeutic strategy an important step in moving research findings into clinical trials.

Baloh, the repositorys principal investigator, has a particular interest in ALS and other neuromuscular disorders, but DNA, tissue and data collection is conducted for Cedars-Sinai neuroscience researchers studying virtually any disease. And its holdings can have widespread influence: Repositories of genetic material enable scientists studying similar diseases at multiple research centers to access patient data in larger quantities than any single site could provide.

We work with many other research institutions across the country to share the samples themselves as well as de-identified information about the patients what disease they have, the severity of their disease, and similar disorder-related details. This improves our ability to find new gene abnormalities, because it cant always be done with just tens or even hundreds of patients. We may need thousands of patients, especially for very rare genetic forms of disease that have very subtle genetic effects. Therefore, we study our own patients in great detail, but we also share our resources more broadly, said Baloh, adding that genetic discoveries often have implications even for patients who dont have genetic forms of disease.

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Tissue Collection Aids Search for Neurologic and Neuromuscular Disease Causes and Cures

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