Archive for the ‘Gene Therapy Research’ Category

By Elizabeth Lopatto - 2012-06-25T19:00:00Z

Chronic stress appears to block a gene that guards against brain atrophy associated with depression, according to a study in rats that may help guide new treatments for mood disorders.

The gene, called neuritin, appears to be responsible for keeping healthy neuron connections in certain parts of the brain, according to the study published in the Proceedings of the National Academy of Sciences. Rats whose genes were suppressed were more anxious and depressed than those whose genes werent, an experiment found. Further, activating the gene led to an antidepressant response.

The research adds evidence to the idea that depression may be caused by atrophy in the hippocampus, the part of the brain responsible for mood and memory. Scientists have previously shown that some antidepressants increase the growth of new connections, called synapses, between neurons.

This is based on findings that basically stress and depression have been shown to cause atrophy, said Ronald Duman, a study author and professor of psychiatry at Yale University in New Haven, Connecticut, in a telephone interview. Theres good evidence theres a loss of synaptic connections in depressed rodents and depressed patients. If you dont have the appropriate number of connections in synapses, your brain isnt going to function properly.

Researchers found that chronically stressed rats, those who had been deprived of food, forced to swim in cold water, exposed to frightening odors and other stressors, had lower levels of neuritin expression and exhibited depressed behavior. The researchers then dosed the stressed rats with neuritin-boosting therapy, which improved the animals ability to swim longer without giving up in a test.

In another experiment reported in the study, rats were dosed with gene therapy to boost neuritins availability in the brain. That led to new neuron growth. Researchers also used gene therapy to suppress neuritin. These animals were less likely to eat right away and were more likely to show despairing behaviors when they were subjected to stress.

An estimated 9 percent of American adults are depressed, according to the U.S. Centers for Disease Control and Prevention. Discovering new drugs to treat people who are depressed may decrease disability and suicide rates, according to background information in the paper.

Its not clear exactly how current antidepressants including selective serotonin reuptake inhibitors, or SSRIs, like Eli Lilly & Co. (LLY)s Prozac, work in the brain. SSRIs are designed to block the reabsorption of the brain chemical serotonin. Still, previous work attempting to show serotonin is solely responsible for depression has been unsuccessful. The alternative theory about the role of neurogenesis developed in response.

Todays study shows a causal link between neuritin and depression, at least in rats, Duman said. Human studies will be more complicated, in part because there isnt a known drug that acts directly on neuritin in humans.

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Stress Blocks Gene That Guards Brain Against Depression

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/skdhnn/translational_rege) has announced the addition of the "Translational Regenerative Medicine - Oncology, CNS and Cardiovascular-Rich Pipeline Features Innovative Stem Cell and Gene Therapy Applications" report to their offering.

More Guidelines Needed to Grow Regenerative Medicine Market, Report Finds

Standardized research guidelines are needed to control and encourage the development of gene therapy and stem cell treatments, according to a new report by healthcare experts GBI Research.

The new report* shows how regenerative medicine is seen as an area with high future potential, as countries need ways to cope with the burden of an aging population.

The stem cell market alone is predicted to grow to around $5.1 billion by 2014, while gene therapy has also shown promise despite poor understanding of some areas of regenerative medicine and a lack of major approvals (the only approvals to date being made in Asia).

Up until now, securing research within clinics has been difficult, with a high number of failures and discontinuations throughout all phases of clinical study. Stem cell therapy uses bone marrow transplants as an established treatment method, but the development of the therapy into further applications and has not yet become common practice.

Similarly, tissue engineering has been successful in the areas of skin and bone grafts, but translation into more complex therapies has been an issue for researchers. Although scientific possibilities are ever-increasing, the true potential of regenerative medicine has yet to be demonstrated fully.

A desire to discover new and innovative technologies has encouraged governments in the UK and Singapore to focus directly on regenerative medicine as a future potential economy booster.

Companies Mentioned:

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Research and Markets: Translational Regenerative Medicine - Oncology, CNS and Cardiovascular-Rich Pipeline Features ...

24-06-2012 10:46 This video was uploaded from an Android phone.

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ADHD gene research - Video

Cambridge UK personalised medicines pioneer Horizon Discovery has established three new Centres of Excellence (CoE) for rAAV gene editing.

The Babraham Institute will use Horizons rAAV gene editing technology to understand the different PI3K isoforms and other components of the PI3K signaling networks. PI3K enzymes are critical regulators involved in many cellular responses.

Also through the CoE program, Horizon will support Dana-Farber Cancer Institute and the University of Liverpool in its application of Horizons propriety gene engineering technology, GENESIS, to generate human isogenic cell lines incorporating genes involved in the development of specific diseases, with a focus on cancer.

The Dana-Farber CoE will focus on epigenetic mechanisms involved in the differentiation of normal stem cells and development of normal tissues, and how abnormalities in this process lead to initiation and progression of tumors. They will also develop isogenic cellular models to understand the roles of specific epigenetic genes and their role in breast cancer.

The University of Liverpool is interested the Ras family of proteins (N-, H- and K-Ras) which are involved in many key cellular processes, and how they produce different biological outputs despite their high degree of identity. The university will produce isogenic cellular models that express different forms of these Ras proteins from their endogenous loci.

Dr Rob Howes, principal scientist, Horizon said: We are delighted these three new world class institutes have joined our Centers of Excellence program.

Horizon is hoping to continue expanding the CoE network through 2012, and we look forward to working with an increasing number of excellent scientific groups.

The new human isogenic cell lines generated by the CoEs will be exclusively licensed to Horizon in return for future product royalties. Horizon will also have an exclusive option to license new intellectual property developed.

This forms part of Horizons strategy to generate at least 2500 new X-MANTM (gene X- Mutant And Normal) models of cancer, neurodegenerative, and cardiovascular disease. These models support drug discovery researchers in their efforts to understand how complex genetic diseases manifest themselves in real patients, and help rationalise many aspects of drug development, reducing the cost of bringing to market new personalised therapies.

The centers are part of the GENESIS Gene Editing Consortium, which includes rAAV GENESIS pioneers the University of Washington, the University of Torino, Johns Hopkins University, the Translational Genomics Institute (TGen), the University of Minnesota, the University of Maryland, Case Western Reserve University and the University of Pittsburgh.

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New horizons for gene editing

ZURICH, Switzerland--(BUSINESS WIRE)--

Myriad Genetics GmbH announced today that a presentation entitled Current Variant of Uncertain Significance Rates in BRCA 1/2 and Lynch Syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM) Testing, was presented today at the European Human Genetics Conference in Nurnberg, Germany. The study highlights Myriads best-in-class variant classification process and variant of uncertain significance rate.

Researchers analyzed the variant of uncertain significance rate for the BRACAnalysis test (BRCA 1 and BRCA 2 genes) test as well as the COLARIS test (MLH1, MSH2, MSH6, PMS2 and EPCAM genes). From 2002 to 2012, Myriads overall uncertain variant rate decreased due to significant investments made in the development and application of improved processes and statistical techniques and the implementation of a targeted program designed to gather data on family members. Across all ancestries, the BRCA 1 and BRCA 2 variant of uncertain significance rate declined from 12.8% to 2.9%. Further, the variant of uncertain significance rate for Lynch syndrome, a test analyzing the MLH1, MSH2, MSH6, and EPCAM genes, declined to 6.6% in 2012. The variant of uncertain significance for PMS2 gene test, also for Lynch Syndrome, was 4.0%.

This data underscores the importance of a world-class variant classification program as well as the high level of accuracy and sensitivity of Myriads genetic tests. Further, through the investment in research and development for its existing tests, the Company has deepened its understanding of variants and variant classification. Myriad continues to invest furthering this knowledge base in an effort to provide best-in-class testing to patients globally.

Current tests available in Europe have a very high variant of uncertain significance rate, often 25 to 30 percent, stated Gary King, Executive Vice President of International Operations at Myriad. We are pleased to bring Myriads technology and variant classification program to Europe, to enhance the quality of genetic testing available to patients and physicians.

About Myriad Genetics GmbH

Myriad Genetics GmbH is the international headquarters of Myriad Genetics, Inc., a global molecular diagnostic company. The Company is dedicated to making a difference in patients lives through the discovery and commercialization of transformative tests to assess a person's risk of developing disease, guide treatment decisions and assess risk of disease progression and recurrence. Myriad's portfolio of nine molecular diagnostic tests are based on an understanding of the role genes play in human disease and were developed with a focus on improving an individual's decision making process for monitoring and treating disease. For more information on how Myriad is making a difference, please visit the Company's website: http://www.myriad.com.

Myriad, the Myriad logo, BRACAnalysis, Colaris, Colaris AP, Melaris, TheraGuide, Prezeon, OnDose, Panexia and Prolaris are trademarks or registered trademarks of Myriad Genetics, Inc. in the United States and foreign countries.

Safe Harbor Statement

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, including statements relating to the Companys variant classification program; and the Companys strategic directives under the caption About Myriad Genetics. These forward-looking statements are based on managements current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in or implied by forward-looking statements. These risks and uncertainties include, but are not limited to: the risk that sales and profit margins of our existing molecular diagnostic tests and companion diagnostic services may decline or will not continue to increase at historical rates; the risk that we may be unable to expand into new markets outside of the United States; the risk that we may be unable to develop or achieve commercial success for additional molecular diagnostic tests and companion diagnostic services in a timely manner, or at all; the risk that we may not successfully develop new markets for our molecular diagnostic tests and companion diagnostic services, including our ability to successfully generate revenue outside the United States; the risk that licenses to the technology underlying our molecular diagnostic tests and companion diagnostic services and any future products are terminated or cannot be maintained on satisfactory terms; risks related to delays or other problems with manufacturing our products or operating our laboratory testing facilities; risks related to public concern over genetic testing in general or our tests in particular; risks related to regulatory requirements or enforcement in the United States and foreign countries and changes in the structure of healthcare payment systems; risks related to our ability to obtain new corporate collaborations and acquire new technologies or businesses on satisfactory terms, if at all; risks related to our ability to successfully integrate and derive benefits from any technologies or businesses that we acquire; the development of competing tests and services; the risk that we or our licensors may be unable to protect the proprietary technologies underlying our tests; the risk of patent-infringement and invalidity claims or challenges of our patents; risks of new, changing and competitive technologies and regulations in the United States and internationally; and other factors discussed under the heading Risk Factors contained in Item 1A in our most recent Annual Report on Form 10-K filed with the Securities and Exchange Commission, as well as any updates to those risk factors filed from time to time in our Quarterly Reports on Form 10-Q or Current Reports on Form 8-K. All information in this press release is as of the date of the release, and Myriad undertakes no duty to update this information unless required by law.

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Myriad Presents Variant of Uncertain Significance Rates at European Human Genetics Conference 2012

23-06-2012 15:45 Copyright Disclaimer Under Section 107 of the Copyright Act 1976, allowance is made for fair use for purposes such as criticism, comment, news reporting, teaching, scholarship, and research. Fair use is a use permitted by copyright statute that might otherwise be infringing. Non-profit, educational or personal use tips the balance in favor of fair use. The video made solely for the purpose of fan use, study, review or critical analysis purposes only. No video for this song has surfaced yet, so being one of my favorite songs ever, I did it as a tribute. I use footage previously uploaded to you tube in which Gene is singing "dance in the street". The clapping is so similar that I couldn't resist to make this video!

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Gene Vincent

23-06-2012 23:23 Dr Rima Laibow Speaks on Codex Alimentarius Global Eugenics -- Using Medicine To Kill' is a feature length documentary using a collaboration of various materials. It covers topics such as the swine flu, vaccines and vaccinations, quarantine, water, depopulation, eugenics, Monsanto, gm seeds, Agenda 21, and Codex Alimentarius. In 2008, BA Brooks, a director specialized in meanwhile at The New York Film Academy in the creation of digital movies, launched his first exclusive documentary created with videos downloaded from YouTube, a technique that was used successfully in the documentary at hand, Global EUGENlCS -- Using Medicine to Kill, from 2009, which in over two hours of footage, he could afford to treat a wide range of topics: the avian flu and swine and their possible genetic manipulation, the vaccines and the aggressive vaccination campaigns, the origins of AIDS / HIV , martial law, medical news, water, GD Searle and genetically modified food, Agenda 21 -- the imposition of "sustainable development", HR 875 -- the legislation enforcement of the Codex Alimentarius in the US and others, all of which can be grouped under a single logo -- eugenic politics.

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Dr Rima Laibow 4/4 Speaks on Codex Alimentarius - Video

23-06-2012 23:23 Dr Rima Laibow Speaks on Codex Alimentarius Global Eugenics -- Using Medicine To Kill' is a feature length documentary using a collaboration of various materials. It covers topics such as the swine flu, vaccines and vaccinations, quarantine, water, depopulation, eugenics, Monsanto, gm seeds, Agenda 21, and Codex Alimentarius. In 2008, BA Brooks, a director specialized in meanwhile at The New York Film Academy in the creation of digital movies, launched his first exclusive documentary created with videos downloaded from YouTube, a technique that was used successfully in the documentary at hand, Global EUGENlCS -- Using Medicine to Kill, from 2009, which in over two hours of footage, he could afford to treat a wide range of topics: the avian flu and swine and their possible genetic manipulation, the vaccines and the aggressive vaccination campaigns, the origins of AIDS / HIV , martial law, medical news, water, GD Searle and genetically modified food, Agenda 21 -- the imposition of "sustainable development", HR 875 -- the legislation enforcement of the Codex Alimentarius in the US and others, all of which can be grouped under a single logo -- eugenic politics.

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Dr Rima Laibow 3/4 Speaks on Codex Alimentarius - Video

23-06-2012 23:24 Dr Rima Laibow Speaks on Codex Alimentarius Global Eugenics -- Using Medicine To Kill' is a feature length documentary using a collaboration of various materials. It covers topics such as the swine flu, vaccines and vaccinations, quarantine, water, depopulation, eugenics, Monsanto, gm seeds, Agenda 21, and Codex Alimentarius. In 2008, BA Brooks, a director specialized in meanwhile at The New York Film Academy in the creation of digital movies, launched his first exclusive documentary created with videos downloaded from YouTube, a technique that was used successfully in the documentary at hand, Global EUGENlCS -- Using Medicine to Kill, from 2009, which in over two hours of footage, he could afford to treat a wide range of topics: the avian flu and swine and their possible genetic manipulation, the vaccines and the aggressive vaccination campaigns, the origins of AIDS / HIV , martial law, medical news, water, GD Searle and genetically modified food, Agenda 21 -- the imposition of "sustainable development", HR 875 -- the legislation enforcement of the Codex Alimentarius in the US and others, all of which can be grouped under a single logo -- eugenic politics.

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Dr Rima Laibow 2/4 Speaks on Codex Alimentarius - Video

ScienceDaily (June 24, 2012) Hemimegalencephaly is a rare but dramatic condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though frequently diagnosed in children with severe epilepsy, the cause of hemimegalencephaly is unknown and current treatment is radical: surgical removal of some or all of the diseased half of the brain.

In a paper published in the June 24, 2012 online issue of Nature Genetics, a team of doctors and scientists, led by researchers at the University of California, San Diego School of Medicine and the Howard Hughes Medical Institute, say de novo somatic mutations in a trio of genes that help regulate cell size and proliferation are likely culprits for causing hemimegalencephaly, though perhaps not the only ones.

De novo somatic mutations are genetic changes in non-sex cells that are neither possessed nor transmitted by either parent. The scientists' findings -- a collaboration between Joseph G. Gleeson, MD, professor of neurosciences and pediatrics at UC San Diego School of Medicine and Rady Children's Hospital-San Diego; Gary W. Mathern, MD, a neurosurgeon at UC Los Angeles' Mattel Children's Hospital; and colleagues -- suggest it may be possible to design drugs that inhibit or turn down signals from these mutated genes, reducing or even preventing the need for surgery.

Gleeson's lab studied a group of 20 patients with hemimegalencephaly upon whom Mathern had operated, analyzing and comparing DNA sequences from removed brain tissue with DNA from the patients' blood and saliva.

"Mathern had reported a family with identical twins, in which one had hemimegalencephaly and one did not. Since such twins share all inherited DNA, we got to thinking that there may be a new mutation that arose in the diseased brain that causes the condition," said Gleeson. Realizing they shared the same ideas about potential causes, the physicians set out to tackle this question using new exome sequencing technology, which allows sequencing of all of the protein-coding exons of the genome at the same time.

The researchers ultimately identified three gene mutations found only in the diseased brain samples. All three mutated genes had previously been linked to cancers.

"We found mutations in a high percentage of the cells in genes regulating the cellular growth pathways in hemimegalencephaly," said Gleeson. "These same mutations have been found in various solid malignancies, including breast and pancreatic cancer. For reasons we do not yet understand, our patients do not develop cancer, but rather this unusual brain condition. Either there are other mutations required for cancer propagation that are missing in these patients, or neurons are not capable of forming these types of cancers."

The mutations were found in 30 percent of the patients studied, indicating other factors are involved. Nonetheless, the researchers have begun investigating potential treatments that address the known gene mutations, with the clear goal of finding a way to avoid the need for surgery.

"Although counterintuitive, hemimegalencephaly patients are far better off following the functional removal or disconnection of the enlarged hemisphere," said Mathern. "Prior to the surgery, most patients have devastating epilepsy, with hundreds of seizures per day, completely resistant to even our most powerful anti-seizure medications. The surgery disconnects the affected hemisphere from the rest of the brain, causing the seizures to stop. If performed at a young age and with appropriate rehabilitation, most children suffer less language or cognitive delay due to neural plasticity of the remaining hemisphere."

But a less-invasive drug therapy would still be more appealing.

Excerpt from:
Gene mutations cause massive brain asymmetry

At 84, American political scientist Gene Sharp has seen his lifelong work on nonviolent resistance echo around the world.

STORY HIGHLIGHTS

London (CNN) -- It's a dark January evening, and in an anonymous townhouse near Paddington station, a man is talking about how to stage a revolution.

A young Iranian asks a question: "The youth in Iran are very disillusioned by the brutality of the violence used against them ... It has stopped all the street protest," she says. "What would you say to them? How can they get themselves organized again?"

The man thinks for a moment. He's an unlikely looking radical -- slightly stooped with white hair, his bent frame engulfed by the low chair he's sitting in.

When he opens his mouth to speak, all eyes in the room are fastened on him.

"You don't march down the street towards soldiers with machine guns. ... That's not a wise thing to do.

"But there are other things that are much more extreme. ... You could have everybody stay at home.

"Total silence of the city," he says lowering his voice to a whisper, punctuating the words with his bent hands, as if he's wiping out the noise himself.

"Everybody at home." The man's eyes scan the room. "Silence," he whispers again.

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Gene Sharp: A dictator's worst nightmare

ScienceDaily (June 22, 2012) The gene p53 is the most commonly mutated gene in cancer. p53 is dubbed the "guardian of the genome" because it blocks cells with damaged DNA from propagating and eventually becoming cancerous. However, new research led by Ute M. Moll, M.D., Professor of Pathology at Stony Brook University School of Medicine, and colleagues, uncovers a novel role for p53 beyond cancer in the development of ischemic stroke. The research team identified an unexpected critical function of p53 in activating necrosis, an irreversible form of tissue death, triggered during oxidative stress and ischemia.

The findings are detailed online in Cell.

Ischemia-associated oxidative damage leads to irreversible necrosis which is a major cause of catastrophic tissue loss. Elucidating its signaling mechanism is of paramount importance. p53 is a central cellular stress sensor that responds to multiple insults including oxidative stress and is known to orchestrate apoptotic and autophagic types of cell death. However, it was previously unknown whether p53 can also activate oxidative stress-induced necrosis, a regulated form of cell death that depends on the mitochondrial permeability transition pore (PTP) pore.

"We identified an unexpected and critical function of p53 in activating necrosis: In response to oxidative stress in normal healthy cells, p53 accumulates in the mitochondrial matrix and triggers the opening of the PTP pore at the inner mitochondrial membrane, leading to collapse of the electrochemical gradient and cell necrosis," explains Dr. Moll. "p53 acts via physical interaction with the critical PTP regulator Cyclophylin D (CypD). This p53 action occurs in cultured cells and in ischemic stroke in mice. "

Of note, they found in their model that when the destructive p53-CypD complex is blocked from forming by using Cyclosporine-A type inhibitors, the brain tissue is strongly protected from necrosis and stroke is prevented.

"The findings fundamentally expand our understanding of p53-mediated cell death networks," says Dr. Moll. "The data also suggest that acute temporary blockade of the destructive p53-CypD complex with clinically well-tolerated Cyclosporine A-type inhibitors may lead to a therapeutic strategy to limit the extent of an ischemic stroke in patients."

"p53 is one of the most important genes in cancer and by far the most studied," says Yusuf A. Hannun, M.D., Director of the Stony Brook University Cancer Center, Vice Dean for Cancer Medicine, and the Joel Kenny Professor of Medicine at Stony Brook. "Therefore, this discovery by Dr. Moll and her colleagues in defining the mechanism of a new p53 function and its importance in necrotic injury and stoke is truly spectacular."

Dr. Moll has studied p53 for 20 years in her Stony Brook laboratory. Her research has led to numerous discoveries about the function of p53 and two related genes. For example, previous to this latest finding regarding p53 and stroke, Dr. Moll identified that p73, a cousin to p53, steps in as a tumor suppressor gene when p53 is lost and can stabilize the genome. She found that p73 plays a major developmental role in maintaining the neural stem cell pool during brain formation and adult learning. Her work also helped to identify that another p53 cousin, called p63, has a critical surveillance function in the male germ line and likely contributed to the evolution of humans and great apes, enabling their long reproductive periods.

Dr. Moll's Cell study coauthors include: Angelina V. Vaseva and Natalie D. Marchenko, Department of Pathology, Stony Brook University School of Medicine; Kyungmin Ji and Stella E. Tsirka, Department of Pharmacological Sciences, Stony Brook University School of Medicine; and Sonja Holzmann, Department of Molecular Oncology, University of Gottingen in Germany.

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Most commonly mutated gene in cancer may have a role in stroke

TAMPA Imagine being able to use a person's unique genetic code to find the right treatment for heart failure, asthma or even the dreaded common cold.

That's the focus of Dr. Stephen Liggett, one of the newest additions to the University of South Florida's Morsani College of Medicine.

Liggett, 57, began work this month as director of the USF Health Personalized Medicine Institute. He is a national leader in the emerging field and has attracted millions in research dollars from the National Institutes of Health.

One of his first orders of business will be to collaborate with Dr. Leslie Miller, head of the USF Health Heart Institute, which this spring received $8.9 million in state and county funding to begin developing genomics-based personalized approaches to cardiovascular care.

Liggett comes to USF from the University of Maryland, where he was a professor of medicine and physiology and director of its cardiopulmonary genomics program.

We caught up with Liggett during his first week on the job:

What is personalized medicine?

It's the use of information obtained from an individual's genetic code, or genome, to tailor their medical care. There are three areas where genomic information is particularly useful:

The prediction of whether a person is at risk for developing a disease.

The ability to predict the course, or degree of severity, of a disease in patients.

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National leader in personalized medicine heads new institute at USF Health

Stem cell therapy has gone to the dogs. The technology aimed at giving ailing pets a new lease on life has arrived in Hawaii.

13-year-old Kumba is still a bit dazed, coming out of general anesthesia. The veterinarian at Surf Paws Animal Hospital just extracted about two tablespoons of fat tissue from the dog. Stem cells from that fat tissue will then be used to help him with his arthritis.

"Once we get the stem cells then we do some extra processing steps to wake them up so that they're very active. At the end of that, the veterinarian will inject the stem cells into the areas of damage," says Carol Spangler Vaughn of Medivet America.

A company called MediVet America is bringing the technology to animal hospitals in Hawaii. This is a first for Oahu. The company says the procedure works on other animals with different types of ailments.

"So the nice thing about this we're not gonna give you a puppy back but we'll give you some nice quality time with your animal. You won't have to put them down because of their arthritis," Vaughn said.

Kumba's arthritis had gotten worse in the past five years, and his owners were wondering whether it was best to end his life to stop him from suffering.

'When we start saying things like oh we don't know how much longer, poor Kumba, he must be in a lot of pain. That kind of stuff really hits home especially since he's been with us for so long," said Rumi Hospodar Kumba's owner.

But with this new procedure, they're counting on Kumba to be pain free in a few weeks and are looking forward to get backdoing some of the things Kumba enjoyed, like swimming.

"He can't do that now since his joints are so bad, and he's getting so old so that's one of the many things I'm looking forward to," Kelsea Hopsodar, his other owner said.

The cost of the procedure runs from 24 to 28 hundred dollars, and it's covered by most pet insurance policies.

Originally posted here:
Stem cell therapy gives dog new lease on life

HAWAII KAI (HawaiiNewsNow) -

Cutting-edge technology is helping Hawaii's pets live better lives for months, even years. We were there as a beloved dog named Kumba received one of the first-ever, in-clinic stem cell therapy surgeries in the islands.

13 year old Kumba doesn't know he's a guinea pig. The Rottweiler-Lab mix is one of the first in Hawaii to undergo the stem cell procedure at Surf Paws in Hawaii Kai.

Kumba suffers severe arthritis in his hips and knees, doesn't eat much, and is even a bit depressed. "It's an effort for him to get up off the floor, and when he gets up and crosses the room, you can see the stiffness," says his owner, Rumi Hospodar.

Kumba's kids learn some of details of his surgery. Then, he's moved to a table and nods off from anesthesia. Once he's prepped, the procedure begins. The vet removes about two tablespoons of fat tissue from Kumba's shoulder. From there, the stem cells are separated from the fat and activated. Then, they're injected back into the affected areas.

The entire process takes four hours, but the dog is actually only under for about 20 minutes. Surf Paws used to send the tissue to the mainland for processing, but with technology from Medi-Vet America, they can do it all here.

"The patient had to be, you know, go home and come back a few days later and the timing was a little bit difficult. Now, everything is same day," says Surf Paws veterinarian Dr. Cristina Miliaresis.

Cost depends on the size of animal but can run up to $2,800. It's mainly done on dogs, cats, and horses who suffer osteoarthritis, hip dysplasia, ligament and cartilage damage, and other degenerative diseases. Their quality of life can improve within a couple of weeks.

Dr. Miliaresis says, "Some people might say, 'Oh, the dog's 13. Why are you doing this for a 13 year old dog? But even 6 months, pain-free, after a very, it's not simple, but it's a pretty straightforward procedure, to me (would be) just amazing."

The techs move all 97 pounds of Kumba to post-op - while his anxious owner looks on.

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Stem cell therapy in Hawaii going to the dogs

A single injection of an experimental drug designed to silence the gene that produces the mutant huntingtin protein in Huntington's disease can provide long-lasting relief from the condition, studies in rats and monkeys show.

The infusion not only temporarily blocks production of the mutant protein, but also allows the body to clean up some of the huntingtin that has already accumulated, leading to a "huntingtin holiday" that can persist as long as nine months, UC San Diego researchers reported this week. The team hopes to begin human trials of the treatment within 18 months.

Huntington's is a genetic disorder caused by a mutant gene on chromosome 4. The gene produces a protein called huntingtin. Normally, a section of this gene is repeated 15 to 28 times, but in the mutant form, it is repeated as many as 150 times, leading to accumulation of an abnormal form of the huntingtin protein that destroys cells in the brain. The disease produces a broad variety of symptoms, including behavioral disturbances, paranoia, psychosis, movement disorders, dementia and, eventually, death. The disease affects an estimated 30,000 Americans and there is no cure or even an effective treatment.

Researchers have tried a variety of ways to suppress the production of mutant huntingtin. But such suppressive agents have to be injected directly into the brain and they have generally been shown to exert their effects only near the site of the injection.

Cell biologist Don W. Cleveland of UCSD's Ludwig Institute of Cancer Research and his colleagues have developed what is known as antisense DNA that binds to messenger RNA that is the blueprint for the mutant huntingtin protein. Messenger RNA, or mRNA, carries instructions from the cell's nuclear DNA to its protein-making machinery. The antisense DNA is complementary to the huntingtin mRNA and signals cellular enzymes to destroy it. The drug seems to spread through the brain far from the injection site.

The team reported in the journal Neuron that a single injection of the drug into mice with a model ofHuntington's diseaseproduced rapid results. Treated animals began moving better within a month and their movements were normal within two months. The improvements lasted as long as nine months, long after the drug has disappeared from their bodies and production of the mutant protein had resumed. Similar results were obtained in rhesus monkeys.

"For a disease like Huntington's, where a mutant protein product is tolerated for decades prior to disease onset, these findings open up the provocative possibility that transient treatment can lead to prolonged benefit for patients," Cleveland said in a statement. "This finding raises the prospect of a 'huntingtin holiday,' which may allow for disappearance of disease-causing species that might take weeks or months to re-form. If so, then a single application of a drug to reduce expression of a target gene could 'reset the disease clock,' providing a benefit long after huntingtin suppression has ended."

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Gene silencing improves Huntington's in animals; human tests next

Reported in CELL, Stony Brook pathologist uncovers new p53 mechanism triggering necrosis

Newswise STONY BROOK, N.Y., June 22, 2012 The gene p53 is the most commonly mutated gene in cancer. p53 is dubbed the guardian of the genome because it blocks cells with damaged DNA from propagating and eventually becoming cancerous. However, new research led by Ute M. Moll, M.D., Professor of Pathology at Stony Brook University School of Medicine, and colleagues, uncovers a novel role for p53 beyond cancer in the development of ischemic stroke. The research team identified an unexpected critical function of p53 in activating necrosis, an irreversible form of tissue death, triggered during oxidative stress and ischemia. The findings are detailed online in Cell.

Ischemia-associated oxidative damage leads to irreversible necrosis which is a major cause of catastrophic tissue loss. Elucidating its signaling mechanism is of paramount importance. p53 is a central cellular stress sensor that responds to multiple insults including oxidative stress and is known to orchestrate apoptotic and autophagic types of cell death. However, it was previously unknown whether p53 can also activate oxidative stress-induced necrosis, a regulated form of cell death that depends on the mitochondrial permeability transition pore (PTP) pore.

We identified an unexpected and critical function of p53 in activating necrosis: In response to oxidative stress in normal healthy cells, p53 accumulates in the mitochondrial matrix and triggers the opening of the PTP pore at the inner mitochondrial membrane, leading to collapse of the electrochemical gradient and cell necrosis, explains Dr. Moll.

"p53 acts via physical interaction with the critical PTP regulator Cyclophylin D (CypD). This p53 action occurs in cultured cells and in ischemic stroke in mice."

Of note, they found in their model that when the destructive p53-CypD complex is blocked from forming by using Cyclosporine-A type inhibitors, the brain tissue is strongly protected from necrosis and stroke is prevented.

The findings fundamentally expand our understanding of p53-mediated cell death networks, says Dr. Moll. The data also suggest that acute temporary blockade of the destructive p53-CypD complex with clinically well-tolerated Cyclosporine A-type inhibitors may lead to a therapeutic strategy to limit the extent of an ischemic stroke in patients.

p53 is one of the most important genes in cancer and by far the most studied, says Yusuf A. Hannun, M.D., Director of the Stony Brook University Cancer Center, Vice Dean for Cancer Medicine, and the Joel Kenny Professor of Medicine at Stony Brook. Therefore, this discovery by Dr. Moll and her colleagues in defining the mechanism of a new p53 function and its importance in necrotic injury and stoke is truly spectacular.

Dr. Moll has studied p53 for 20 years in her Stony Brook laboratory. Her research has led to numerous discoveries about the function of p53 and two related genes. For example, previous to this latest finding regarding p53 and stroke, Dr. Moll identified that p73, a cousin to p53, steps in as a tumor suppressor gene when p53 is lost and can stabilize the genome. She found that p73 plays a major developmental role in maintaining the neural stem cell pool during brain formation and adult learning. Her work also helped to identify that another p53 cousin, called p63, has a critical surveillance function in the male germ line and likely contributed to the evolution of humans and great apes, enabling their long reproductive periods.

Dr. Molls Cell study coauthors include: Angelina V. Vaseva and Natalie D. Marchenko, Department of Pathology, Stony Brook University School of Medicine; Kyungmin Ji and Stella E. Tsirka, Department of Pharmacological Sciences, Stony Brook University School of Medicine; and Sonja Holzmann, Department of Molecular Oncology, University of Gottingen in Germany.

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Study Shows Most Commonly Mutated Gene in Cancer may have a Role in Stroke

June 22, 2012

UK researchers studying the genomes of Ethiopian people have discovered similarities to those of populations in Israel and Syria, proving genetic evidence that may support the tale of the legendary Queen of Sheba.

Ethiopians are described by representatives of the Wellcome Trust Sanger Institute, one of the organizations involved in the study, as one of the most genetically diverse cultures in the world. By studying their DNA, the researchers detected mixing from some Ethiopians and non-Africans dating back to approximately 3,000 years ago.

The origin and date of this genomic admixture, along with previous linguistic studies, is consistent with the legend of the Queen of Sheba, who according to the Ethiopian Kebra Nagast book had a child with King Solomon from Israel and is mentioned in both the Bible and the Quran, the Institute said in a press release.

As part of their work, which is detailed in the American Journal of Human Genetics, the scientists studied the DNA of more than 200 subjects from 10 Ethiopian and two neighboring African populations, Helen Briggs of BBC News reported on Thursday. Approximately one million genetic letters in each genome were analyzed in what is being called the largest Ethiopian-centered genetic investigation of its kind.

We found that some Ethiopians have 40 percent to 50 percent of their genome closer to the genomes of populations outside of Africa, while the remaining half of their genome is closer to populations within the African continent, study co-author Toomas Kivisild of the University of Cambridge said, according to HealthDay News reports. We calculated genetic distances and found that these non-African regions of the genome are closest to populations in Egypt, Israel and Syria, rather than to the neighboring Yemeni and Arabs.

Likewise, Dr. Chris Tyler-Smith of the Wellcome Trust Sanger Institute, co-lead author of the study, told Briggs, Genetics can tell us about historical events By analyzing the genetics of Ethiopia and several other regions we can see that there was gene flow into Ethiopia, probably from the Levant, around 3,000 years ago, and this fits perfectly with the story of the Queen of Sheba.

The experts did tell BBC News that there was some doubt regarding the absolute accuracy of the dating, and that there was a possible margin of error of a couple of hundred years plus or minus the 3,000 years estimate. They added that they plan to analyze all three billion genetic letters of the DNA contained within the genomes of individual Ethiopians in order discern more about the diversity and evolution of human genetics.

Our research gives insights into important evolutionary questions, Dr. Tyler-Smith said in a statement. We see imprints of historical events on top of much more ancient prehistoric ones that together create a region of rich culture and genetic diversity. The next step for our research has to be to sequence the entire genomes, rather than read individual letters, of both Ethiopian people and others to really understand human origins and the out-of-Africa migration.

Source: redOrbit Staff & Wire Reports

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Ethiopian Genetics Could Verify 'Queen of Sheba' Legend

20-06-2012 21:05 NOTICE: "Copyright Disclaimer Under Section 107 of the Copyright Act 1976, allowance is made for "fair use" for purposes such as criticism, comment, news reporting, teaching, scholarship, and research. Fair use is a use permitted by copyright statute that might otherwise be infringing. Non-profit, educational or personal use tips the balance in favor of fair use."

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Gene Chandler - Please, Sunrise [1979] - Video

21-06-2012 14:13 AutDB is the first publicly available genetic database for autism spectrum disorders. It includes all genes whose mutations have been associated or implicated with autism spectrum disorders, together with all risk-conferring candidates associated with these disorders. AutDB was designed with a systems biology approach, integrating data from diverse areas of autism research. At present, AutDB contains interactive modules that illuminate the molecular function of genes implicated in autism: Human Gene, which contains evidence for the association of genes with autism Animal Models, which describes the characteristics of animal models created from altering expression of these genes Protein Interactions (PIN), which compiles all known molecular interactions of proteins produced from these genes Copy Number Variants (CNV), which curates all known CNVs linked to autism To curate these database modules, our research team extracts data only from peer-reviewed, published scientific literature about autism. All of our annotators are scientific experts who hold advanced degrees in the biomedical sciences and formerly conducted laboratory research. They work together with our IT developers to optimize AutDB as a user-friendly tool for the autism research community. Our scientists continuously analyze current primary research articles so that AutDB serves as the most updated resource for autism candidate genes.

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AutDB 3 Tutorial - Video

21-06-2012 15:05 Speaker: Chris Vulpe, Associate Professor, Nutritional Sciences and Toxicology and Project Leader, Superfund Research Program University of California Berkeley See for more about Dr. Vulpe's laboratory. Research support by the Superfund Research Program of the National Institute of Environmental Health Sciences. People vary in their likelihood of developing disease after exposure to toxic chemicals. One reason is because they have different forms of genes. Professor Vulpe describes a novel approach to identify genes that could influence susceptibility to toxic chemicals in people. He uses yeast because they share fundamental cellular biology and metabolic pathways with people. This research identified a gene responsible for controlling cell proliferation resulting from benzene toxicity in yeast. Different forms of this gene could play a role in human susceptibility to benzene.

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Functional toxicogenomics: from yeast to people - Video

21-06-2012 16:53 ExpressionBlast is a search engine for gene expression data that allow you to compare your own results to all other studies in GEO (Gene Expression Omnibus). This will allow you to find other studies with similar expression patterns and may provide you with insights and research directions for your own study. This video is just a quick general tutorial.

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ExpressionBlast - a search engine for gene expression data - Video

This week's cover story delves into the infamous University of Washington arson and the underground environmental movement it blew up. The 2001 arson, intended as a protest against genetic engineering, targeted a plant biologist named Toby Bradshaw--an interesting character in his own right.

He's a blunt, motorcycle-riding, 55-year-old contrarian who dismisses his attackers as "idiots" and, unlike some of his colleagues, seemed to emerge from the arson with his psyche in tact.

As if to thumb his nose at the enviro/animal rights crowd, he has outside his office a picture of a jokey billboard for a South Carolina restaurant. "There's plenty of room for all God's creatures," the billboard reads. "Right next to the mashed potatoes." Inside his office, the walls are decorated with the skulls of animals he's hunted in locations ranging from Idaho and Wyoming to Zimbabwe.

"That's where I get my meat," he says, pointing to the skull of an elk that weighed 600 or 700 pounds and kept him going for most of 2008. "I shoot it." He keeps 10 hawks at his house for his hunting trips, which have him disappearing into the Rocky Mountain wilderness for a week or two every fall and coming back with the makings of elk Teriyaki and antelope chili.

Yet, if you think that makes him the archetypal opposite of the vegan types who attacked him, think again. While far from vegan, he says that a vegetarian diet is, generally, better for the planet. He shoots much of the meat he eats precisely because he believes it's the only real responsible way to get the stuff. Like many vegetarians, he holds that commercial meat production is a waste of natural resources because animals are fed food that would be far more productively used feeding people.

On the topic of genetic engineering, though, Bradshaw couldn't be further apart from environmental activists.

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Toby Bradshaw, Target of Famous Arson, Hunts Elk, Praises Vegetarianism, and Defends Genetic Engineering

ScienceDaily (June 21, 2012) A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 in The American Journal of Human Genetics, pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. This innovative approach is likely to pave the way for future personalized medicine, not just for ASD but also for any disease with a genetic component.

ASDs are a heterogeneous group of developmental conditions characterized by social deficits, difficulty communicating, and repetitive behaviors. ASDs are thought to be highly heritable, meaning that they run in families. However, the genetics of autism are complex.

Researchers have found rare changes in the number of copies of defined genetic regions that associate with ASD. Although there are some hot-spot regions containing these alterations, very few genetic changes are exactly alike. Similarly, no two autistic people share the exact same symptoms. To discover how these genetic changes might affect gene transcription and, thus, the presentation of the disorder, Rui Luo, a graduate student in the Geschwind lab at UCLA, studied 244 families in which one child (the proband) was affected with an ASD and one was not.

In addition to identifying several potential new regions where copy-number variants (CNVs) are associated with ASDs, Geschwind's team found genes within these regions to be significantly misregulated in ASD children compared with their unaffected siblings. "Strikingly, we observed a higher incidence of haploinsufficient genes in the rare CNVs in probands than in those of siblings, strongly indicating a functional impact of these CNVs on expression," says Geschwind. Haploinsuffiency occurs when only one copy of a gene is functional; the result is that the body cannot produce a normal amount of protein. The researchers also found a significant enrichment of misexpressed genes in neural-related pathways in ASD children. Previous research has found that these pathways include other genetic variants associated with autism, which Geschwind explains further legitimizes the present findings.

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Functional links between autism and genes explained

Public release date: 21-Jun-2012 [ | E-mail | Share ]

Contact: Mary Beth O'Leary moleary@cell.com 617-397-2802 Cell Press

A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 in The American Journal of Human Genetics, pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. This innovative approach is likely to pave the way for future personalized medicine, not just for ASD but also for any disease with a genetic component.

ASDs are a heterogeneous group of developmental conditions characterized by social deficits, difficulty communicating, and repetitive behaviors. ASDs are thought to be highly heritable, meaning that they run in families. However, the genetics of autism are complex.

Researchers have found rare changes in the number of copies of defined genetic regions that associate with ASD. Although there are some hot-spot regions containing these alterations, very few genetic changes are exactly alike. Similarly, no two autistic people share the exact same symptoms. To discover how these genetic changes might affect gene transcription and, thus, the presentation of the disorder, Rui Luo, a graduate student in the Geschwind lab at UCLA, studied 244 families in which one child (the proband) was affected with an ASD and one was not.

In addition to identifying several potential new regions where copy-number variants (CNVs) are associated with ASDs, Geschwind's team found genes within these regions to be significantly misregulated in ASD children compared with their unaffected siblings. "Strikingly, we observed a higher incidence of haploinsufficient genes in the rare CNVs in probands than in those of siblings, strongly indicating a functional impact of these CNVs on expression," says Geschwind. Haploinsuffiency occurs when only one copy of a gene is functional; the result is that the body cannot produce a normal amount of protein. The researchers also found a significant enrichment of misexpressed genes in neural-related pathways in ASD children. Previous research has found that these pathways include other genetic variants associated with autism, which Geschwind explains further legitimizes the present findings.

###

Luo et al.: "Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders."

ABOUT THE AMERICAN JOURNAL OF HUMAN GENETICS

The American Journal of Human Genetics (AJHG) is ASHG's official scientific journal, published by Cell Press. AJHG is the most highly regarded peer-reviewed journal dedicated to studies in human genetics and earned an impact factor of 11.680 in 2011. AJHG provides cutting-edge research and review articles related to genetics and genomics and the application of genetic principles in health, disease, medicine, population studies, evolution, and societal impacts. For more information about AJHG, visit: http://www.ajhg.org.

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Study explains functional links between autism and genes