HIALEAH (CBSMiami) A team of Hialeah veterinarians performed a groundbreaking medical procedure on a dog to help him walk again.

Brando, a 9-year-old German shepherd, received an innovative two-part stem cell therapy at Paradise Animal Clinic in Hialeah on Wednesday. Its the first time this type of therapy has been performed in Florida.

The dog had been paralyzed from the waist down since January and used a doggie wheelchair to get around.

Vets said that he had a skin infection that paralyzed his lungs and then spread to a disc in his back. The infection caused 80 percent of Brandos leg muscles to weaken.

We were totally emotionally destroyed. Kids were crying, wife was upset, I was upset, said owner Manuel Bouza. Obviously the issue was he was so sick whether we put him down because hes paralyzed or whether we deal with it.

Bouza said that they wanted to do whatever they could to help him. One day, he stumbled across a video on YouTube about a dog in Great Britain who had received a stem cell treatment and he became interested.

With no proven options for recovery, they decided to try an experimental stem cell procedure never performed before in Florida.

This is a last ditch effort, said Bouza.

During the procedure, surgeons took fat from Brandos stomach and processed out the stem cells which were then re-injected into his spinal cord. They hope the cells will regenerate tissue and help Brando become more mobile.

The idea is that stem cells are able to go to a given place in the body and repair, said said animal surgeon Jose Gorostiza. Hopefully they will help the cells that are there function again, the new ones.

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Discovery 13: Personalized Medicine Panel
Innovation in personalized medicine is generating new technologies that provide insights about health at the DNA level. This panel provides an industry scan ...

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Spinal cord injury L1 L2 3 months post surgery
Fractura de columna L1 y L2 3 meses despues de ciruga.

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Spinal cord injury L1

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Call Info Medicare Coverage Handicapped Scooters Spinal Cord Injury Around Westminster
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Anti-doping experts reported progress Thursday in the search for a reliable test for gene doping, although they still don't know when it will be ready for use in competition.

IOC medical commission chairman Arne Ljungqvist said a test would be put into use at the Olympics and other events as soon as a method is proven reliable regardless of whether hard evidence exists that athletes are manipulating their genes to improve performance.

No such evidence exists so far, although the World Anti-Doping Agency has received information that "there is an interest out there in certain circles," particularly among coaches and other members of athletes' entourages, Ljungqvist said.

"We will certainly as soon as we have a reliable method available make use of it for the purpose of identifying whether there is something going on based on strategic information," the Swedish official said.

"I would really estimate that people realize that it's probably a bit risky today, perhaps very risky if they should jump to misuse. But there seems to be mental readiness to take it on once it is available in some sort of safe way," he said.

With tests now able to reliably detect more conventional forms of doping, gene doping is considered the potential future of cheating in sports. While it offers the potential for enhancing muscle growth and increasing strength and endurance, gene doping also carries potential risks such as serious genetic damage, including cancer.

Regulating gene and cell doping is especially complicated because the line between their use as treatment for muscle diseases and misuse for performance enhancement is blurred, said Ljungqvist, who is also a WADA vice president and chairman of its health, medical and research committee.

Signs of gene doping are also varied and subtle and can be easily confused with physiological changes resulting from diet or simple illness, said Theodore Friedmann, chairman of WADA's gene doping panel.

Still, he said experts were "cautiously optimistic, that we are making progress, and that will help sport and will help future athletes do what they do best, and that is compete in the clean world."

"So that's why I feel optimistic that we are being proactive at this stage, not reactive," Friedmann said, adding that testing remained at the laboratory stage at present.

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Gene doping test for athletes in the works

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Anti-doping experts reported progress in the search for a reliable test for gene doping, although they still don't know when it will be ready for use in competition.

IOC medical commission chairman Arne Ljungqvist said a test would be put into use at the Olympics and other events as soon as a method is proven reliable - regardless of whether hard evidence exists that athletes are manipulating their genes to improve performance.

No such evidence exists so far, although the World Anti-Doping Agency has received information that "there is an interest out there in certain circles," particularly among coaches and other members of athletes' entourages, Ljungqvist said.

"We will certainly as soon as we have a reliable method available make use of it for the purpose of identifying whether there is something going on based on strategic information," the Swedish official said.

"I would really estimate that people realize that it's probably a bit risky today, perhaps very risky if they should jump to misuse. But there seems to be mental readiness to take it on once it is available in some sort of safe way," he said.

With tests now able to reliably detect more conventional forms of doping, gene doping is considered the potential future of cheating in sports. While it offers the potential for enhancing muscle growth and increasing strength and endurance, gene doping also carries potential risks such as serious genetic damage, including cancer.

Regulating gene and cell doping is especially complicated because the line between their use as treatment for muscle diseases and misuse for performance enhancement is blurred, said Ljungqvist, who is also a WADA vice president and chairman of its health, medical and research committee.

Signs of gene doping are also varied and subtle and can be easily confused with physiological changes resulting from diet or simple illness, said Theodore Friedmann, chairman of WADA's gene doping panel.

Still, he said experts were "cautiously optimistic, that we are making progress, and that will help sport and will help future athletes do what they do best, and that is compete in the clean world."

"So that's why I feel optimistic that we are being proactive at this stage, not reactive," Friedmann said, adding that testing remained at the laboratory stage at present.

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Experts make progress on gene doping tests

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SCIENTISTS have discovered one of the genes that cause a muscle disease so harmful newborn babies rarely survive more than a few days.

The West Australian Institute for Medical Research co-ordinated the worldwide research that discovered the gene KLHL40, which is now known to cause 20 per cent of cases within a particular type of nemaline myopathy.

Researchers identified 19 mutations in the gene, which affects muscle development and function.

Babies with the gene mutation suffered severe muscle weakness, allowing little movement within the womb, bone fractures, respiratory failure and swallowing difficulties at birth.

Professor Nigel Laing said he had been searching for the gene since 1996.

"Even 17 years ago, we felt this disease was a different level of severity of nemaline myopathy so it was likely to be a different group of muscle proteins involved," he said.

"After years of work, that has turned out to be the case."

Professor Laing said he expected prenatal and pre-implantation testing would begin soon.

The paper's lead author, Gina Ravenscroft, said the research began with a WA couple whose baby died after five days and a Turkish couple who lost three babies in a row.

Researchers expanded the study to DNA samples from families in Japan, Vietnam, France, Turkey, Italy, Israel and Sweden.

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June 5, 2013 A gene linked to autism spectrum disorders that was manipulated in two lines of transgenic mice produced mature adults with irreversible deficits affecting either learning or social interaction.

The findings, published in the May 29 issue of the Journal of Neuroscience, have implications for potential gene therapies but they also suggest that there may be narrow windows of opportunity to be effective, says principal investigator Philip Washbourne, a professor of biology and member of the University of Oregon's Institute of Neuroscience.

The research, reported by an 11-member team from three universities, targeted the impacts of alterations in the gene neuroligin 1 -- one of many genes implicated in human autism spectrum disorders -- to neuronal synapses in the altered mice during postnatal development and as they entered adulthood. One group over-expressed the normal gene, the other a mutated version.

Mice with higher-than-normal levels of the normal gene after a month had skewed synapses at maturity. Many were larger, appearing more mature, than normal. In these mice, Washbourne said, there were clear cognitive problems. "Behavior was just not normal. They didn't learn very well, and they were slower to learn, but their social behavior was not impacted."

Mice over-producing a mutated version of the gene reached adulthood with structurally immature synapses. "They were held back in development and behavior -- the way they behave in terms of learning and memory, in terms of social interaction," he said. "These were adult mice, three months old, but they behaved like normal mice at four weeks old. We saw arrested development. Learning is a little bit better, they are more flexible just like young mice, they learn faster, but their social interaction is off. To us, this looked more like Asperger's syndrome.

"So with the same gene, doing two different manipulations -- overexpressing the normal form or overexpressing a mutated form -- we've gone to two different ends of the autism spectrum," said Washbourne, whose lab focuses on basic synapse formation and what goes wrong in relationship to autism. Work has been done in both mice and zebra fish.

"We made these mice so that we can turn the genes on and off as we want," Washbourne said. "Using an antibiotic, doxycycline, it turns off these altered genes that we inserted into their chromosomes. While on doxycycline, the mice are absolutely normal."

However, if the inserted gene was turned off after the completion of development, mice still showed altered synapses and behavior. This result suggests that any kind of gene therapy may have to be applied to individuals with autism early on.

Effects seen in the social behavior of mice with the mutated gene, he said, are not unlike observations reported by parents of many autistic children. While normal mice prefer to engage with new mice entering their world rather than familiar others, or even a new inanimate object, these mice split their time equally. "It's not a deficit in memory regarding which mouse is which, it's more a weighting of their interaction. Does that mean they are autistic? I don't know, but if you talk to parents of autistic children, one of the frustrating things they report is that their children treat complete strangers in exactly the same way that they treat them."

While the findings provide new insights, Washbourne said, any translation into treatment could be decades away. "A problem with autism is there are many different genes potentially involved. It could be that some day, if you are diagnosed with autism, a mouth swab might allow for the identification of the exact gene that is mutated and allow for targeted therapy," he said. "Genome sequencing already has turned up subtle mutations in lots of genes. Autism might be like cancer, with hundreds of potential combinations of faulty genes."

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Over-produced autism gene alters synapses, affects learning and behavior in mice

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June 6, 2013 Through genetic engineering of laboratory models, researchers at Dartmouth-Hitchcock Norris Cotton Cancer Center have uncovered a vulnerability in the way cancer cells diverge from normal regenerating cells that may help treat children with leukemia as reported in the journal PNAS on June 3, 2013. Dartmouth researchers are trying to understand the key pathways that distinguish how a normal blood cell grows and divides compared to the altered growth that occurs in leukemia. In addition to the treatment of leukemia, the work has relevance for expanding umbilical cord blood or bone marrow stem cells for transplantation.

Leukemia often occurs due to chromosomal translocations, which are broken chromosomes that cause blood cells to grow uncontrollably. One gene that is involved in chromosomal translocations found at high frequency in childhood leukemia is the MLL1 (Mixed Lineage Leukemia 1) gene. Conventional chemotherapy is very ineffective at curing patients with this translocation, in contrast to other types of childhood leukemia, which are relatively curable.

Using genetic engineering, the researchers generated a mouse model to discover genes that are regulated by MLL1 in hematopoietic stem cells, the cells that give rise to all white and red blood cell types. In the course of these studies, they identified several unique properties of the normal MLL1 pathway in hematopoietic stem cells that may be exploited to better treat leukemia harboring MLL1 translocations.

"We discovered that many genes that depend upon the normal MLL1 protein are involved in maintaining hematopoietic stem cells, thus manipulating this pathway could be a way to expand cells from normal bone marrow or umbilical cord blood donors to improve transplantation of these cell types, which is a procedure used to treat certain chemotherapy-resistant cancers," said Patricia Ernst, PhD, co-director Cancer Mechanisms, Dartmouth-Hitchcock Norris Cotton Cancer Center, associate professor of Genetics and of Microbiology and Immunology at the Geisel School of Medicine at Dartmouth, Hanover, NH.

As principle investigator, Ernst and her team set out to discover the genetic pathways controlled by the normal form of the MLL1 protein and leukemogenic MLL1 fusion proteins specifically in hematopoietic stem cells (HSCs). Delineation of these pathways will facilitate research by her group and others aimed at developing strategies to kill leukemia cells without harming HSCs, which are often profoundly affected by current chemotherapeutic regimens. In performing this research, they also discovered a new molecular pathway that controls normal HSC biology.

"We demonstrate in this study, that some direct MLL1 target genes in HSCs are affected by Menin loss (a protein involved in the inherited disorder, Multiple Endocrine Neoplasia), and some are not," said Ernst. "This is a fundamentally important observation that demonstrates this category of chromatin modifiers utilizes different protein complexes/mechanisms to target different classes of genes in different cell types."

Ernst points out that this highly desirable outcome that would not have been predicted for this targeted therapy and may illustrate that drugs blocking the interaction of these two proteins (currently under development by other groups) leave normal hematopoiesis intact. She is working on follow-up studies of this finding.

Research funded by NIH HL090036 and RR16437 as well as additional grants from American Cancer Society, Gabrielle's Angel Foundation for Cancer Research, Lady Tata Memorial Trust, and the Lauri Strauss Leukemia Foundation.

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Normal molecular pathway affected in poor-prognosis childhood leukemia identified

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Seventy medical, research and advocacy organizations active in 41 countries and including the National Institutes of Health announced Wednesday that they have agreed to create an organized way to share genetic and clinical information. Their aim is to put the vast and growing trove of data on genetic variations and health into databases -- with the consent of the study subjects -- that would be open to researchers and doctors all over the world, not just to those who created them.

Millions more people are expected to get their genes decoded in coming years, and the fear is that this avalanche of genetic and clinical data about people and how they respond to treatments will be hopelessly fragmented and impede the advance of medical science. This ambitious effort hopes to standardize the data and make them widely available.

"We are strong supporters of this global alliance," said Dr. Francis Collins, director of the National Institutes of Health. "There is lots of momentum now, and we really do want to move quickly."

David Haussler, professor of biomolecular engineering and director of the Center for Biomolecular Science and Engineering at UC Santa Cruz, is a member of the alliance's organizing committee. He said the alliance, now in the beginning stages of formation, is planning for a future in which genome sequencing will be widely used in clinical medicine, given the rapidly falling cost of sequencing.

"Understanding the role of

In just the past few years, the price of determining the sequence of genetic letters that make up human DNA has dropped a millionfold, said Dr. David Altshuler, deputy director and chief academic officer at the Broad Institute of Harvard and MIT. As a result, instead of having access to just a few human genomes -- the complete genetic material of a person, including genes and regions that control genes -- researchers can now study tens of thousands of them, along with clinical data on peoples' health and how they fared on various treatments.

In the next few years, Altshuler said, researchers expect that millions of people will have their genomes sequenced.

"The question is whether and how we make it possible to learn from these data as they grow, in a manner that respects the autonomy and privacy choices of each participant," Altshuler said. No one wants to put DNA sequences and clinical data on the Internet without the permission of patients, he said, so it also is important to allow people to decide if they want their data -- with no names or obvious identifiers attached -- to be available to researchers.

But there are no agreed-upon standards for representing genetic data or sharing them, experts say. And there are no common procedures for assuring that patients consent to sharing their information.

"Each institution has its own approach," Altshuler said.

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Accord, including UCSC, aims to create global trove of genetic data

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Public release date: 5-Jun-2013 [ | E-mail | Share ]

Contact: Garth Sundem garth.sundem@ucdenver.edu University of Colorado Denver

A recent article in the New England Journal of Medicine describes genetic testing of a rare blood cancer called atypical chronic neutrophilic leukemia (CNL) that revealed a new mutation present in most patients with the disease. The mutation also serves as an Achilles heel, allowing doctors at the University of Colorado Cancer Center to prescribe a never-before-used, targeted treatment. The first patient treated describes his best snowboarding season ever.

"I'm a crazy sports fan," says the patient. "I go 30 days a season. I may be the oldest guy snowboarding on the mountain, but I'm not the slowest!"

When he lost a few pounds from what eventually proved to be undiagnosed cancer, the patient was initially pleased. "I was lighter and could snowboard better ride better, jump better," he says. Then he took a blood test and his white blood cell count was far in excess of the normal range. His doctor couldn't find a cause and so they watched and waited. A couple months later, another blood test showed his white count was even higher.

"That's when I decided to go to the University of Colorado Hospital," he says. There he met Daniel A. Pollyea, MD, MS, CU Cancer Center investigator, assistant professor and clinical director of Leukemia Services at the University of Colorado School of Medicine, and co-author of what would become the recent study in NEJM.

"Pollyea said my illness didn't fit into any major categories," the patient says. "I could see in his face that he'd run into something abnormal, something new. He was aggressive but didn't force his own opinion. I saw him reach out to every source he could find every other specialist he could get in contact with."

"He'd been sent from doctor to doctor being told incorrect information," Pollyea says. "By the time we saw him, his blood counts were going in a bad direction due to the progression of his leukemia."

Pollyea had worked on blood cancers since his fellowship training at Stanford University, and through his work there developed a relationship with researchers at the University of Oregon, which had an ongoing project in blood cancers that defied common classifications. Pollyea and his team took a sample from his patient and sent it to Oregon for testing, with the hopes that if they could identify a gene mutation causing this cancer, there might be a chance they could target the mutation with an existing drug.

Sure enough, sequencing showed a mutation in a gene that makes a protein called colony-stimulating factor 3 (CSF3R). Cells with this mutation have uncontrolled growth in the bone marrow, resulting in a leukemia.

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Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-534-2208 Brigham and Women's Hospital

Boston, MA Reaching puberty at an unusually early age can have adverse effects on social behavior and psychological development, as well as physical effects, including short stature, and lifelong health risks, such as diabetes, breast cancer and heart disease. Researchers at Brigham and Women's Hospital (BWH), in a multi-institutional collaboration with Boston Children's Hospital, the Broad Institute, and the University of Sao Paulo, Brazil, have identified that a genetic mutation leads to a type of premature puberty, known as central precocious puberty. Central precocious puberty is defined by the development of secondary sexual characteristics before eight years in girls and nine years in boys.

The study appears online June 5, 2013 in The New England Journal of Medicine. The results will also be presented at The Endocrine Society's 95th Annual Meeting & Expo in San Francisco on June 17, 2013.

"These findings will open the door for a new understanding of what controls the timing of puberty," said Ursula Kaiser, MD, chief of the BWH Division of Endocrinology, Diabetes and Hypertension, co-senior study author. "It also will allow doctors to diagnose the cause of precocious puberty in a subset of patients, or to identify patients at risk for developing precocious puberty, especially if others in their family are affected. By better understanding the role of this gene in the timing of puberty, we may be able to gain insights into how other factors, such as environmental factors, may influence pubertal timing."

The researchers performed whole exome sequencing analysis of forty individuals from fifteen families with central precocious puberty. In five of the fifteen families, the researchers identified four mutations in the MKRN3 gene. The MKRN3 gene is responsible for coding a protein called makorin ring finger protein 3, which is thought to help tag other proteins for degradation. The genetic mutations resulted in truncated MKRN3 proteins and disruption of MKRN3 protein function. A mutation in the MKRN3 gene can lead to premature activation of reproductive hormones in the body, thereby initiating early puberty.

The researchers also found that all affected individuals inherited the mutations from their fathers. Moreover, the MKRN3 gene is located on the same chromosome as genes for Prader-Willi syndrome, a rare condition that results in short stature, incomplete sexual development, cognitive disabilities, insatiable appetite and severe obesity, among other abnormalities; although, despite being on the same chromosome, MKRN3 is not thought to contribute to the clinical features of Prader-Willi syndrome.

###

This research was supported by the National Institutes of Health (1F05HD072773-01, 1K23HD073351, U54HD28138, R21HD066495), CAPES 3806-11-1, Conselho Nacional de Desenvolvimento Cientfico e Tecnolgico (Brazil), and Fundao de Amparo Pesquisa do Estado de So Paulo.

Brigham and Women's Hospital (BWH) is a 793-bed nonprofit teaching affiliate of Harvard Medical School and a founding member of Partners HealthCare. BWH has more than 3.5 million annual patient visits, is the largest birthing center in New England and employs more than 15,000 people. The Brigham's medical preeminence dates back to 1832, and today that rich history in clinical care is coupled with its national leadership in patient care, quality improvement and patient safety initiatives, and its dedication to research, innovation, community engagement and educating and training the next generation of health care professionals. Through investigation and discovery conducted at its Biomedical Research Institute (BRI), BWH is an international leader in basic, clinical and translational research on human diseases, involving nearly 1,000 physician-investigators and renowned biomedical scientists and faculty supported by nearly $625 million in funding. BWH continually pushes the boundaries of medicine, including building on its legacy in organ transplantation by performing the first face transplants in the U.S. in 2011. BWH is also home to major landmark epidemiologic population studies, including the Nurses' and Physicians' Health Studies, OurGenes and the Women's Health Initiative. For more information and resources, please visit BWH's online newsroom.

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Genetic mutation inherited from father's side linked to early puberty

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In the wake of her aunt's death due to cancer and her recent double mastectomy, Angelina Jolie is sure to generate more headlines after her first public appearance since her bombshell announcement.

Jolie's revelation that she underwent a preventive double mastectomy due to her high risk for developing both breast and ovarian cancer shone a spotlight on genetic testing for inherited diseases. What's not so clear is whether your health insurance company will cover all of the costs.

Mutations in the BRCA1 gene -- which Jolie carries -- and the BRCA2 gene elevate the risk of a woman developing breast and ovarian cancer.

According to FORCE, a nonprofit focused on those with inherited breast and ovarian cancers, a woman with a BRCA mutation faces a 55% to 85% of developing breast cancer, and a 10% to 60% risk for developing ovarian cancer.

In Jolie's case, she had an 87% risk of developing breast cancer and 50% risk of ovarian cancer, she wrote in an Op-Ed article, "My medical choice," for The New York Times.

While some health insurance companies clearly spell out the criteria they use for covering the cost of BRCA1 and BRCA2 testing, that isn't always the case, says Lisa Schlager, vice president of community affairs and public policy with FORCE.

One woman's journey

Maia Magder discovered the vagaries of health insurance companies when seeking BRCA testing. Her mother and maternal aunt both were diagnosed with breast cancer before the age of 40, her paternal aunt was diagnosed at age 41, and her maternal grandparents and her brother have had other forms of cancer. (See: "Guide to cancer insurance: 5 must-know facts.")

Magder is of Ashkenazi Jewish descent, which puts her at higher risk for carrying a BRCA1 or BRCA2 mutation.

Her insurer was willing to pay for genetic testing -- only if she tested positive for the mutation. She didn't pay out of pocket, but had to sign an agreement stating that if her insurer wouldn't pay, she'd cover the costs.

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Genetic Testing not Always Covered by Insurance

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Let #39;s Play The Sims 3 - Perfect Genetics Challenge - Episode 15
My Sims 3 Page: http://mypage.thesims3.com/mypage/Llandros2012 My Blog: http://Llandros09.blogspot.com My Facebook: https://www.facebook.com/Llandros09?ref=t...

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Genetics solution 4 part 3

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The Chat Show | Episode #2 - Do Genetics Play a Part?
Check out Episode 2 with Ryan Do genetics play a part? You can also visit http://www.ironmuscletv.com to read and watch loads more content from Ryan.

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Genetics supplies
Supplies.

By: JillRonstadt

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Genetics supplies - Video

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BEIJING (AP) -- Anti-doping experts reported progress Thursday in the search for a reliable test for gene doping, although they still don't know when it will be ready for use in competition.

IOC medical commission chairman Arne Ljungqvist said a test would be put into use at the Olympics and other events as soon as a method is proven reliable - regardless of whether hard evidence shows athletes are manipulating their genes to improve performance.

No such evidence exists so far, although the World Anti-Doping Agency has received information that ''there is an interest out there in certain circles,'' particularly among coaches and other members of athletes' entourages, Ljungqvist said.

''We will certainly, as soon as we have a reliable method available, make use of it for the purpose of identifying whether there is something going on based on strategic information,'' the Swedish official said. ''I would really estimate that people realize that it's probably a bit risky today, perhaps very risky if they should jump to misuse. But there seems to be mental readiness to take it on once it is available in some sort of safe way.''

Gene doping, prohibited by the International Olympic Committee and WADA, is considered the potential future of cheating in sports. Current tests detect more conventional forms of doping.

Gene doping involves transferring genes directly into human cells to blend into an athlete's DNA. It is an illegal offshoot of gene therapy, which typically alters DNA to fight diseases such as muscular dystrophy and cystic fibrosis.

While it offers the potential for enhancing muscle growth and increasing strength and endurance, gene doping also carries potential risks such as serious genetic damage, including cancer.

Regulating gene and cell doping is especially complicated because the line between therapeutic treatment for muscle diseases and misuse for performance enhancement is blurred, said Ljungqvist, who is also a WADA vice president and chairman of its health, medical and research committee.

Signs of gene doping are also varied and subtle and can be easily confused with physiological changes resulting from diet or simple illness, said Theodore Friedmann, chairman of WADA's gene doping panel.

Still, he said experts were ''cautiously optimistic, that we are making progress, and that will help sport and will help future athletes do what they do best, and that is compete in the clean world. So that's why I feel optimistic that we are being proactive at this stage, not reactive.''

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Experts report progress on gene-doping test

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June 6, 2013 A novel gene variant found in human and animal tissue may be a promising treatment for cancer, including breast and brain cancer, according to scientists from the Icahn School of Medicine at Mount Sinai. The variant, called PTEN-long, may contribute to a cell's healthy function and also suppress tumor cell development.

This landmark study is published in the June 6, 2013 issue of the journal Science.

Ramon Parsons, MD, PhD, Professor and Chair of Oncological Sciences led the team that discovered a mutation in the tumor suppressor gene PTEN, which has subsequently been recognized as the second most common mutation in cancer, especially in breast, prostate, and brain cancers. PTEN encodes a 403 amino acid lipid phosphatase protein that is critical to cellular growth, proliferation, and survival. Genetic inactivation of PTEN causes tumor development.

In the current study, Dr. Parsons and his team analyzed human cells and discovered a PTEN variant that has an additional protein sequence and is 43 percent longer than normal PTEN. They called this new variant PTEN-Long. Like PTEN, the long form has the same enzymatic activity, but unlike PTEN, it is secreted by the cell and can enter other cells, indicating that the added protein sequence acts as a delivery system for the tumor suppressor gene.

"This study culminates more than a decade of research that began soon after we learned the therapeutic potential of PTEN and the PI3K pathway," said Dr. Parsons. "We are excited about the potential of PTEN-Long as a therapy for multiple cancer types."

Using human breast and brain tumor cells that lacked PTEN and PTEN-Long, the research team introduced and overexpressed PTEN-Long and PTEN into the cells. They found that, similar to PTEN, PTEN-Long decreased the signaling activity on the PI3K pathway, thus reducing cellular proliferation. They also found that PTEN-Long was reduced in breast tumor tissue compared to healthy breast tissue.

To test the therapeutic potential of PTEN-Long, Dr. Parsons and his team injected mice with tumor cells, then administered PTEN-Long or a control preparation to the mice. For one of their tumor models, after five days of treatment, the tumors disappeared completely. The authors conclude that PTEN-Long alters signaling on the PI3K pathway to inhibit tumor growth and that its ability to enter other cells is critical to this process. As insulin operates on the PI3K pathway as well, the research team also noticed a brief increase in glucose concentration in the PTEN-Long treated mice.

"These findings indicate that PTEN-Long may contribute to cell homeostasis and suppression of cancer," said Dr. Parsons. "This gene variant has significant potential as a protein-based therapy to treat cancer, and may have implications in diseases such as diabetes."

Next, Dr. Parsons plans to study the normal functions of PTEN-Long, how tumors become resistant to it, what happens when it is missing, and how it can be used as a tool for therapy.

The work was funded by the NCI, The Octoberwoman Foundation, and the Avon Foundation.

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Gene variant may provide novel therapy for several cancer types

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Able to Walk Slowly After Severe Spinal Cord Injury by Instay Rehabilitation Center, Dubai
TSB, one of our patients for instay rehabilitation was admitted in Rochestter Wellness after severe spinal cord injury and had a RTA.Look how he is trying to walk slowly with support after...

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June 4, 2013 In a pair of distinct but complementary papers, researchers at the University of California, San Diego School of Medicine and colleagues illuminate the functional importance of a relatively new class of RNA molecules. The work, published online this week in the journal Nature, suggests modulation of enhancer-directed RNAs or eRNAs could provide a new way to alter gene expression in living cells, perhaps affecting the development or pathology of many diseases.

Enhancers are sequences in the genome that act to boost or enhance the activity or expression of nearby genes. They often behave in a cell-specific manner and play an important role in establishing a cell's identity and functional potential, said Christopher Glass, MD, PhD, a professor in the department of Medicine and Cellular and Molecular Medicine at UC San Diego and principal investigator of one of the papers.

Although enhancers have been recognized for more than 25 years, scientists have labored to fully flesh out the breadth and complexity of what enhancers do and how they do it. In 2010, it was discovered that enhancers directed expression of RNA on a broad scale in neurons and macrophages, a type of immune system cell. Dubbed eRNAs, they were different from other classes of nuclear non-coding RNAs, and raised new questions about their potential roles in the functions of enhancers. The two Nature papers attempt to answer some of these questions.

In the first, principal investigator Glass and colleagues investigated a pair of related transcriptional repressors called Rev-Erb-alpha and Rev-Erb-beta (proteins with important roles in regulating the circadian rhythm in many cell types) in mouse macrophages. Using genome-wide approaches, they found that the Rev-Erb proteins repressed gene expression in macrophages primarily by binding to enhancers. Collaboration with researchers at the Salk Institute for Biological Studies revealed that the repressive function of Rev-Erbs was highly correlated with their ability to repress the production of eRNAs.

In the second paper, principal investigator Michael G. Rosenfeld, MD, a professor in the UC San Diego Department of Medicine and Howard Hughes Medical Institute investigator, and colleagues looked at estrogen receptor binding in human breast cancer cells and its impact on enhancer transcription. In contrast to the repressive functions of Rev-Erbs, estrogen receptors (ERs) activate gene expression; but, like Rev-Erbs, they primarily function by also binding to enhancers. ER binding was shown to be associated with increases in enhancer-directed eRNAs in the vicinity of estrogen-induced genes, and to exert roles on activation of coding target genes.

Both papers offer new evidence that eRNAs significantly contribute to enhancer activity, and therefore to expression of nearby genes. Because many broadly expressed genes that play key roles in essential cellular functions are under the control of cell-specific enhancers, the ability to affect enhancer function by knocking down eRNAs could potentially provide a new strategy for altering gene expression in vivo in a cell-specific manner, said Glass, noting that in his research, anti-sense oligonucleotides were developed in conjunction with Isis Pharmaceuticals, which suppressed enhancer activity and reduced expression in nearby genes.

Co-authors of the Glass paper are Michael T. Y. Lam, Hanna P. Lesch, David Gosselin, Sven Heinz, Yumiko Tanaka-Oishi, Christopher Benner, Minna U. Kaikkonen, Mika Kosaka and Cindy Y. Lee, Department of Cellular and Molecular Medicine, UCSD; Han Cho, Salk Institute for Biological Studies; Aneeza S. Kim, Andy Watt and Tamar R. Grossman, Isis Pharmaceuticals, Inc.; and Ronald M. Evans, Salk Institute for Biological Studies and Howard Hughes Medical Institute; and Michael G. Rosenfeld.

Funding for this research came, in part, from National Institutes of Health grants CA17390, U19DK62434, DK091183, DK063491 and CA52599.

Co-authors of the Rosenfeld paper are Wenbo Li, Dimple Notani, Esperanza Nunez, Aaron Yun Chen, Jie Zhang, Kenneth Ohgi, Xiaoyuan Song and Hong-Sook Kim, Howard Hughes Medical Institute, Department of Medicine, UCSD; Qi Ma and Daria Merkurjev, Howard Hughes Medical Institute, Department of Medicine, UCSD and Graduate Program in Bioinformatics, UCSD; Bogdan Tanasa, Howard Hughes Medical Institute, and The Scripps Research Institute; and Soohwan Oh, Howard Hughes Medical Institute, School of Biology, UCSD; and Christopher Glass.

Funding for this research came, in part, from the Howard Hughes Medical Institute and the National Institutes of Health grant CA17390.

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Enhancer RNAs alter gene expression: New class of molecules may be key emerging 'enhancer therapy'

Recommendation and review posted by Bethany Smith

BALTIMORE, MD--(Marketwired - Jun 5, 2013) - Goldman Small Cap Research, a stock market research firm focused on the small cap and microcap sectors, believes that the low level of toxicity in the Nuvilex Inc. (OTCQB: NVLX)pancreatic cancertherapy could have a major impact in its cancer therapy emerging as a therapy of choice, if it is ultimately awarded FDA approval. The Company is an international firm engaged in live-cell encapsulation technology to treat pancreatic cancer along with the development and study of the use of medical marijuana for the treatment of oncology patients.

The results of Nuvilex's oft-cited Phase II pancreatic cancer trial of 14 patients demonstrated that the patients' median survival rate doubled compared to historical control and results of the current gold standard used today, which is Gemzar. Plus, the 1-year survival rate was triple that of control and double that of the standard Gemzar therapy. Perhaps the most telling component of the trial was the fact that only one-third of the standard chemotherapy dosage was used, thereby measurably increasing the patient quality of life as compared to other therapies.

For example, according to the Gemzar.com website, the side effects of using the treatment for pancreatic cancer are many, with varying ranges of severity.On the mild side, nausea, diarrhea, fever and hair loss are common in anywhere from 3:10 to 7:10 of patients.In addition, 7 out of 10 patients suffered from anemia, low white blood cell count, and changes in their liver function tests.

In future tests, Nuvilex will likely use stand-alone Gemzar therapy as a comparator. But, if earlyNuvilex results are an indication, it is not just efficacy that could serve patients well, but if combined with an approved low toxicity due to the reduced chemotherapy dosage, clinicians and patients could seek out the treatment in droves.

A copy of this article as well as other articles and Nuvilex reports can be accessed by visiting http://www.goldmanresearch.com.

About Goldman Small Cap Research: Led by former Piper Jaffray analyst and mutual fund manager Rob Goldman, Goldman Small Cap Research produces small cap and micro cap stock research reports, daily stock market blogs, and popular investment newsletters.For more information, visit http://www.goldmanresearch.com.

A Goldman Small Cap Research report is not intended as an offering, recommendation, or a solicitation of an offer to buy or sell the securities mentioned or discussed.Please read the report's full disclosures and analyst background on our website before investing. Neither Goldman Small Cap Research nor its parent is a registered investment adviser or broker-dealer with FINRA or any other agency. To download our research, view our disclosures, or for more information, visit http://www.goldmanresearch.com.

About Nuvilex, Inc. (OTCQB: NVLX): Nuvilex, Inc. has been a provider of all-natural products for many years, has expanded its company to increase its natural product based footprint through medical marijuana studies and is becoming an international biotechnology provider of live, therapeutically valuable, encapsulated cells and services for treatments, research and medicine. The Company's offerings will ultimately include cancer, diabetes and other clinical treatments using the company's natural product knowledge, product base, cell and gene therapy expertise, and live-cell encapsulation technology in addition to other new products currently under development. For more information visit: http://www.nuvilex.com.

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Low Level of Toxicity a Major Plus for Nuvilex's Pancreatic Cancer Therapy

Recommendation and review posted by Bethany Smith

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/cn2vq9/cell_therapy) has announced the addition of Jain PharmaBiotech's new report "Cell Therapy - Technologies, Markets and Companies" to their offering.

This report describes and evaluates cell therapy technologies and methods, which have already started to play an important role in the practice of medicine. Hematopoietic stem cell transplantation is replacing the old fashioned bone marrow transplants. Role of cells in drug discovery is also described. Cell therapy is bound to become a part of medical practice.

Stem cells are discussed in detail in one chapter. Some light is thrown on the current controversy of embryonic sources of stem cells and comparison with adult sources. Other sources of stem cells such as the placenta, cord blood and fat removed by liposuction are also discussed. Stem cells can also be genetically modified prior to transplantation.

Cell therapy technologies overlap with those of gene therapy, cancer vaccines, drug delivery, tissue engineering and regenerative medicine. Pharmaceutical applications of stem cells including those in drug discovery are also described. Various types of cells used, methods of preparation and culture, encapsulation and genetic engineering of cells are discussed. Sources of cells, both human and animal (xenotransplantation) are discussed. Methods of delivery of cell therapy range from injections to surgical implantation using special devices.

Cell therapy has applications in a large number of disorders. The most important are diseases of the nervous system and cancer which are the topics for separate chapters. Other applications include cardiac disorders (myocardial infarction and heart failure), diabetes mellitus, diseases of bones and joints, genetic disorders, and wounds of the skin and soft tissues.

Regulatory and ethical issues involving cell therapy are important and are discussed. Current political debate on the use of stem cells from embryonic sources (hESCs) is also presented. Safety is an essential consideration of any new therapy and regulations for cell therapy are those for biological preparations.

The cell-based markets was analyzed for 2012, and projected to 2022. The markets are analyzed according to therapeutic categories, technologies and geographical areas. The largest expansion will be in diseases of the central nervous system, cancer and cardiovascular disorders. Skin and soft tissue repair as well as diabetes mellitus will be other major markets.

The number of companies involved in cell therapy has increased remarkably during the past few years. More than 500 companies have been identified to be involved in cell therapy and 289 of these are profiled in part II of the report along with tabulation of 278 alliances. Of these companies, 160 are involved in stem cells. Profiles of 72 academic institutions in the US involved in cell therapy are also included in part II along with their commercial collaborations. The text is supplemented with 55 Tables and 12 Figures. The bibliography contains 1,050 selected references, which are cited in the text.

Key Topics Covered:

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Research and Markets: Cell Therapy - Technologies, Markets and Companies - Updated 2013-2022 Global Report

Recommendation and review posted by Bethany Smith

Public release date: 3-Jun-2013 [ | E-mail | Share ]

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

In a pair of distinct but complementary papers, researchers at the University of California, San Diego School of Medicine and colleagues illuminate the functional importance of a relatively new class of RNA molecules. The work, published online this week in the journal Nature, suggests modulation of "enhancer-directed RNAs" or "eRNAs" could provide a new way to alter gene expression in living cells, perhaps affecting the development or pathology of many diseases.

Enhancers are sequences in the genome that act to boost or "enhance" the activity or expression of nearby genes. They "often behave in a cell-specific manner and play an important role in establishing a cell's identity and functional potential," said Christopher Glass, MD, PhD, a professor in the department of Medicine and Cellular and Molecular Medicine at UC San Diego and principal investigator of one of the papers.

Although enhancers have been recognized for more than 25 years, scientists have labored to fully flesh out the breadth and complexity of what enhancers do and how they do it. In 2010, it was discovered that enhancers directed expression of RNA on a broad scale in neurons and macrophages, a type of immune system cell. Dubbed eRNAs, they were different from other classes of nuclear non-coding RNAs, and raised new questions about their potential roles in the functions of enhancers. The two Nature papers attempt to answer some of these questions.

In the first, principal investigator Glass and colleagues investigated a pair of related transcriptional repressors called Rev-Erb-alpha and Rev-Erb-beta (proteins with important roles in regulating the circadian rhythm in many cell types) in mouse macrophages. Using genome-wide approaches, they found that the Rev-Erb proteins repressed gene expression in macrophages primarily by binding to enhancers. Collaboration with researchers at the Salk Institute for Biological Studies revealed that the repressive function of Rev-Erbs was highly correlated with their ability to repress the production of eRNAs.

In the second paper, principal investigator Michael G. Rosenfeld, MD, a professor in the UC San Diego Department of Medicine and Howard Hughes Medical Institute investigator, and colleagues looked at estrogen receptor binding in human breast cancer cells and its impact on enhancer transcription. In contrast to the repressive functions of Rev-Erbs, estrogen receptors (ERs) activate gene expression; but, like Rev-Erbs, they primarily function by also binding to enhancers. ER binding was shown to be associated with increases in enhancer-directed eRNAs in the vicinity of estrogen-induced genes, and to exert roles on activation of coding target genes.

Both papers offer new evidence that eRNAs significantly contribute to enhancer activity, and therefore to expression of nearby genes. "Because many broadly expressed genes that play key roles in essential cellular functions are under the control of cell-specific enhancers, the ability to affect enhancer function by knocking down eRNAs could potentially provide a new strategy for altering gene expression in vivo in a cell-specific manner," said Glass, noting that in his research, anti-sense oligonucleotides were developed in conjunction with Isis Pharmaceuticals, which suppressed enhancer activity and reduced expression in nearby genes.

###

Co-authors of the Glass paper are Michael T. Y. Lam, Hanna P. Lesch, David Gosselin, Sven Heinz, Yumiko Tanaka-Oishi, Christopher Benner, Minna U. Kaikkonen, Mika Kosaka and Cindy Y. Lee, Department of Cellular and Molecular Medicine, UCSD; Han Cho, Salk Institute for Biological Studies; Aneeza S. Kim, Andy Watt and Tamar R. Grossman, Isis Pharmaceuticals, Inc.; and Ronald M. Evans, Salk Institute for Biological Studies and Howard Hughes Medical Institute; and Michael G. Rosenfeld.

See original here:
Enhancer RNAs alter gene expression

Recommendation and review posted by Bethany Smith