Could not connect to DB: 1040: Too many connectionsCould not execute 'UPDATE pressrelease SET r_hits = r_hits+ 1, r_total_hits = r_total_hits+ 1, r_pub_hits = r_pub_hits+ 1, r_total_pub_hits = r_total_pub_hits+ 1 WHERE r_id = 217952' on database eurekalert: 2002: Can't connect to local MySQL server through socket '/tmp/mysql.sock' (2) Public release date: 30-Jul-2012 [ | E-mail | Share ]

Contact: Phil Sahm phil.sahm@hsc.utah.edu 801-581-2517 University of Utah Health Sciences

(SALT LAKE CITY)Alternating hemiplegia of childhood (AHC) is a rare disorder that usually begins in infancy, with intermittent episodes of paralysis and stiffness, first affecting one side of the body, then the other. Symptoms mysteriously appear and disappear, again and again, and affected children often experience dozens of episodes per week. As they get older, children fall progressively behind their peers in both intellectual abilities and motor skills, and more than half develop epilepsy. Unfortunately, medications that work for epilepsy have been unsuccessful in controlling the recurrent attacks of paralysis, leaving parents and physicians with few options, and significantly disabling those affected.

Researchers at the University of Utah Departments of Neurology and Human Genetics, in collaboration with researchers at Duke University Medical Center, have discovered that mutations in the ATP1A3 gene cause the disease in the majority of patients with a diagnosis of AHC. The study was published online on Sunday, July 29, 2012, in Nature Genetics.

In a collaborative effort with the AHC Foundation, Kathryn J. Swoboda, M.D., co-first author on the study, associate professor of neurology and pediatrics, and director of the Pediatric Motor Disorders Research Program at the University of Utah, established an international database of patients with AHC from around the world, starting with a single family nearly 14 years ago. This database now includes 200 affected individuals from more than a dozen countries. Access to clinical information and DNA samples from this database were critical to the success of the international collaboration that helped to identify the first gene causing AHC in a significant percentage of patients.

"AHC is almost always a sporadic disease, which means that there is no family history of the disorder," says Tara Newcomb, genetic counselor, University of Utah Department of Neurology, and a co-author of the study. "The rarity of the disease and the almost exclusively sporadic inheritance made AHC an ideal candidate for next-generation sequencing."

The mysterious and intermittent nature of the neurologic symptoms, which range from unusual eye movements to seizure-like episodes, to partial and/or full body paralysis often results in a prolonged diagnostic odyssey for parents and children, according to Matthew Sweney, M.D., an instructor in the U of U Departments of Neurology and Pediatrics and an epilepsy specialist at Primary Children's Medical Center. "Families often present again and again to the emergency room, and children may undergo dozens of tests and invasive procedures," says Sweney, also a study co-author. "Often, it is only after the spells fail to respond to antiepileptic medications that the diagnosis is considered."

The ATP1A3 gene encodes one piece of a key transporter molecule that normally would move sodium and potassium ions across a channel between neurons (nerve cells) to regulate brain activity. Mutations in this gene are already known to cause another rare movement disorder, rapid onset dystonia parkinsonism, and clinical testing for mutations in this gene is readily available through a blood test. "Having a means to confirm a diagnosis more quickly, using a simple blood test, will allow us to better care for our patients and provide them opportunities for early enrollment in clinical trials," Swoboda says. "The identification of the gene provides scientists with the opportunity to identify specifically targeted and truly effective therapies."

In a broad international collaborative effort, the initial collaboration between the University of Utah and Duke investigators expanded to involve more than three dozen researchers from 13 countries. "This discovery is a testament to the power of the next-generation sequencing technologies, which are becoming increasingly available as a result of the Human Genome Project," says co-author Lynn Jorde, Ph.D., professor and chair of the U of U Department of Human Genetics. "These technologies are rapidly revolutionizing our ability to diagnose rare disorders, and provide hope for hundreds of families of children with rare disorders about which little is known and no targeted treatments currently exist."

###

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Gene mutations linked to most cases of rare disorder -- Alternating Hemoplegia of Childhood

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Want to make the Olympics a true test of national abilities? Genetics is the answer. Image: Lore Sjberg/Wired

Once again the world bears witness as thousands of Olympic athletes convene to be tested as theyve never been tested before, and then if they pass the tests they get to compete in some sports.

A lot of them wont pass, of course, and will be sent home because of the growth hormone, radioactive spider venom or Y chromosomes found in their bloodstream.

But we can rest assured that the remaining athletes are completely free of illegal substances, right? Because bad guys always get caught, cheaters never win, and all the kittens in the whole wide world go to bed each night with full tummies.

The whole concept of doping is a weird one. Taking a young girl with athletic promise, severing her from any chance of a normal childhood, shipping her off to another country, training her day and night, then subjecting her to the sort of pressure that would crush a seafloor crab into mucus and shards thats normal.

Topping off with a little more testosterone than your genome saw fit to give you thats abhorrent.

However, Im not going to suggest that we just let people dope all they want, mostly because a couple hundred comedians have already trod that one into the tarmac. Instead, I have a plan to restore the Olympics to what they originally were: a chance for Greeks to run around naked. Wait, no, Im sure the Greeks can handle that one themselves.

Instead, lets turn the Olympics into a true test not of individuals, but of countries.

To begin with, Olympic athletes all start out with a completely unfair advantage over those of us who will never snatch, clean or jerk at a world-class level: genetics. Just like supermodels need to be born with the genetic code for high cheekbones and UNIX sysadmins need to be born with the genetic code for answering perfectly reasonable questions in a snotty tone of voice, an Olympic back-stroker must be born of ancestors who had to escape waterborne predators while keeping an eye out for flying predators.

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Alt Text: Cleaning Up the Olympics, Genetic-Engineering Style

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WASHINGTON (AP) -- Genetic test maker 23andMe is asking the Food and Drug Administration to approve its personalized DNA test in a move that, if successful, could boost acceptance of technology that is viewed skeptically by leading scientists who question its usefulness.

23andMe is part of a fledgling industry that allows consumers to peek into their genetic code for details about their ancestry and future health. The company's saliva-based kits have attracted scrutiny for claiming to help users detect whether they are likely to develop illnesses like breast cancer, heart disease and Alzheimer's.

The biology of how DNA variations actually lead to certain diseases is still poorly understood, and many geneticists say such tests are built on flimsy evidence.

For years, the Silicon Valley company has resisted government regulation, arguing that it simply provides consumers with information, not a medical service. But now company executives say they are seeking government approval and the scientific credibility that comes with it.

"It's the next step for us to work with the FDA and actually say, 'this is clinically relevant information and consumers should work with their physicians on what to do with it,' " said CEO and co-founder Anne Wojcicki, who is married to Google co-founder Sergey Brin. Google and Brin have invested millions in the privately held company, which is based in Mountain View, Calif.

Wojcicki says the shift in strategy reflects the growing scope of the company's test kit, which now measures the risks of developing more than 115 different diseases.

23andMe said Monday it submitted an initial batch of seven health-related tests to the FDA for review. The company plans to submit 100 additional tests in separate installments before the end of the year. Tests involving family history and nonmedical traits will not be reviewed, since they don't fall under FDA oversight.

Even some of the harshest critics of the genetic testing industry say 23andMe is taking the right approach.

Dr. James Evans of University of North Carolina said he considers much of the information reported by 23andMe, "relatively useless," and "in the realm of entertainment." He believes patients benefit more from pursuing a healthy lifestyle than parsing the potential risks of developing various diseases.

But as test makers begin analyzing larger portions of genetic code, there are rare cases when the findings may help doctors identify patients with a higher risk of treatable health problems, such as aneurysms or colon cancer.

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23andMe seeks FDA approval for personal DNA test

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ScienceDaily (July 30, 2012) By studying fruit flies, scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) have successfully devised a fast and cost-saving way to uncover genetic changes that have a higher potential to cause cancer. With this new approach, researchers will now be able to rapidly distinguish the range of genetic changes that are causally linked to cancer (i.e. "driver" mutations) versus those with limited impact on cancer progression. This research paves the way for doctors to design more targeted treatment against the different cancer types, based on the specific cancer-linked mutations present in the patient.

This study published in the journal Genes & Development could help advance the development of personalised medicine in cancer care and treatment.

The era of genomic sequencing has generated an unparalleled wealth of information on the complexity of genetic changes that occur as cancer develops and progresses. "Many genetic changes arise in cancer cells and changes continue to accumulate during the progression of disease to metastatic cancer[1]. The current challenge is to understand which of the many genetic changes are important drivers of disease progression" said Dr. Stephen Cohen, Principal Investigator at IMCB and team leader of this paper.

Though very different in many ways, fruit flies and humans share similarities in a remarkable two-thirds of their genomes. That is to say, many of the genes found in humans are also present in the flies. Similarly, various signalling pathways involved in tumour formation are also well conserved from fruit flies to humans. In fact, previous studies have shown that about 75 percent of known human disease genes have a recognisable match in the genome of fruit flies[2].

Leveraging on their genetic similarities, Dr Hctor Herranz, a post-doctorate from the Dr Cohen's team developed an innovative strategy to genetically screen the whole fly genome for "cooperating" cancer genes. On their own, these are the genes that appear to be harmless and have little or no impact on cancer. But in fact, they cooperate with other cancer genes, so that the combination causes aggressive cancer, which neither would cause alone.

In this study, the team was specifically looking for genes that could cooperate with EGFR[3] "driver" mutation, a genetic change commonly associated with breast and lung cancers in humans. SOCS5, reported in this paper, is one of the several new "cooperating" cancer genes to be identified through this innovative approach. Most of these new-found genes have yet to be identified as cancer genes in human or mouse models.

Said Mr Xin Hong, a PhD student and the co-first author of this paper, "We were very surprised by our finding because this it the first time that theSOCSgene family is found to be linked to cancer. Previously it has only been associated with immunological disorders."

Dr. Cohen added, "Though these studies are in the early stages, they are very promising. Already, there are indications that levels of SOCS5 expression are reduced in breast cancer, and patients with low levels of SOCS5 have poor prognosis."

The IMCB team is preparing to explore the use of SOCS5 as a biomarker in diagnosis for cancer.

Said Professor Wanjin Hong, Executive Director of IMCB, "This study sheds light on the complexities of cancer genetics and paves the way to accelerate development of personalised medicine in cancer care. It is a fine examples of how powerful genetic approach using the fly model can reveal molecular mechanisms underlying human cancer. More importantly, it shows how fundamental research can have far-reaching applications for potential clinical benefits."

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Scientists pinpoint genetic changes that spell cancer

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Could not connect to DB: 1040: Too many connectionsCould not execute 'UPDATE pressrelease SET r_hits = r_hits+ 1, r_total_hits = r_total_hits+ 1, r_pub_hits = r_pub_hits+ 1, r_total_pub_hits = r_total_pub_hits+ 1 WHERE r_id = 217902' on database eurekalert: 2002: Can't connect to local MySQL server through socket '/tmp/mysql.sock' (2) Public release date: 28-Jul-2012 [ | E-mail | Share ]

Contact: Cathy Yarbrough press@ashg.org sciencematter@yahoo.com 858-243-1814 American Society of Human Genetics

The American Society of Human Genetics will hold its 62nd annual meeting, Tuesday to Saturday, Nov. 6 to 10, at San Francisco's Moscone Center.

Over 6,000 scientists, medical geneticists and genetic counselors are expected to attend the ASHG annual meeting, the world's largest scientific conference on human genetics.

"The ASHG annual meeting provides a forum for presenting the highest quality basic and translational science and the latest clinical information in human genetics, as well as nurturing scientific collaborations through networking" said ASHG Executive Vice President Joann Boughman, Ph.D.

Mary-Claire King, Ph.D., ASHG president and professor of genome sciences and medicine at University of Washington, Seattle, will kick-off the conference, Tuesday, Nov. 6, by speaking on the topic, "The Scientist as a Citizen of the World."

The meeting's closing symposium, Saturday, Nov. 10, will address, "Present and Future Directions for Human Genetics."

Topics of the ASHG meeting's invited scientific sessions, platform presentations and posters will include:

Speaking at the presidential symposium, "Gene Discovery and Patent Law: Present Experience in the U.S. and in Europe," will be: Lori B. Andrews, J.D., ITT Chicago-Kent College of Law, Hank Greely, J.D., Mark Lemley, J.D., Stanford Law School, and Gert Matthijs, Ph.D., Catholic University of Leuven, Belgium.

The annual meeting also will feature presentations of ASHG's annual awards and the Gruber Genetics Prize.

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American Society of Human Genetics to hold 2012 annual meeting, Nov. 6 to 10, in San Francisco

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Michael Rhodes has left his position at Life Technologies to join NanoString Technologies as director of collaboration and applications development, where he will focus on digital gene expression.

Rhodes held various positions at Life Tech, including most recently senior manager sequencing portfolio. He joined Applied Biosystems in 1999 in the genetic analysis division before the company merged with Invitrogen and became Life Tech.

In his new position, he will report to Joe Beechem, who also recently joined NanoString from Life Tech, where he was most recently vice president, head of advanced sequencing and head of global sequencing chemistry, biochemistry, and biophysics.

Quanterix has tapped Paul Chapman to be company president and CEO. Chapman recently was VP of EMD Millipore's BioPharm Process Solutions business, where he was responsible for marketing and R&D teams, and was previously VP of hospital solutions for Roche Near Patient Testing in Austria. Chapman also formerly was international business development manager at Roche Molecular Diagnostics, and he held a range of positions at Roche Diagnostics Canada.

Edison Liu has been elected to the Foundation for the National Institutes of Health's board of directors. His term began on June 19.

Liu is the president and CEO of the Jackson Laboratory and president of the Human Genome Organization. He joined the Jackson Laboratory from the Genome Institute of Singapore, where he was the founding executive director. Prior to that, he was the scientific director of the National Cancer Institute's division of clinical sciences.

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Myriad Genetics, Pharma Mar Explore PGx Strategy for DNA-Damaging Synthetic Alkaloid PM1183

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SAN DIEGO, CA--(Marketwire -07/30/12)- Lpath, Inc. (LPTN), the industry leader in lipidomics-based therapeutics, has brought scientists one step closer to finding a treatment for spinal cord injury with the creation of Lpathomab, an antibody that reverses much of the damage caused by trauma to the nervous system.

As published by the American Journal of Pathology, Lpathomab can be used as a drug to reduce the size of a spinal cord injury (SCI) and improve functional behavioral outcomes in experimental animal models. The antibody works as a molecular sponge by soaking up lysophosphatidic acid (LPA), a molecule that can damage neurons and promote scarring in the central nervous system.

In collaboration with scientists at the University of Melbourne, the antibody was tested in mice that had partially severed spinal cords. A key finding of the study was the significant efficacy of administering Lpathomab after an injury, thus demonstrating a potential therapeutic benefit. Currently, there are no FDA-approved drugs for the treatment of neurotrauma such as SCI and traumatic brain injury (TBI).

"This groundbreaking research provides new hope for therapeutic treatments for many forms of neurotrauma, including SCI and TBI, as well as other forms of neurodegenerative disorders," said Roger Sabbadini, vice president and founder of Lpath and co-author on the paper.

The research team was comprised of Lpath scientists and collaborators from the University of Melbourne, the O'Brien Institute and Monash University.

LPA is a well-validated drug target as a promoter of tumorigenesis, metastasis and fibrotic disease, as well as plays a significant role in neuropathic pain and now neurotrauma. Lpath and its Melbourne collaborators have recently shown that Lpathomab provides protection against neuronal cell death and scarring in experimental models of TBI and will present this work as a platform talk at Neuroscience 2012, the upcoming Society for Neuroscience meeting (www.sfn.org/am2012). Lpath will also present work at the meeting that demonstrates the ability of Lpathomab to mitigate neuropathic pain.

Ongoing studies are directed toward examining Lpathomab's activity against a range of CNS disorders in which cell death is observed, including Alzheimer's disease and other neurodegenerative diseases. The role of LPA in the nervous system has been described in a recent review published in the International Review of Cellular and Molecular Biology (Frisca et al., vol. 296:273-322).

Lpathomab was generated using Lpath's proprietary ImmuneY2 technology. This drug-discovery engine provides Lpath with a platform from which to generate antibodies against bioactive lipids, opening up a new array of drug-discovery possibilities. About 1,000 bioactive members of the lipidome are believed to exist, but the number could be considerably larger as the study of lipidomics continues to expand. Nature Reviews stated that bioactive lipids promise to occupy center-stage in cell biology research in the twenty-first century.

Lpath utilized ImmuneY2 to discover an antibody against another bioactive lipid, sphingosine-1-phosphate (S1P). This antibody, sonepcizumab, is formulated as iSONEP for ocular delivery and as ASONEP for systemic delivery. Both of these drug candidates will be further investigated in Phase 2 trials later this year.

About LpathSan Diego-based Lpath, Inc. (LPTN), a therapeutic antibody company, is the category leader in lipidomics-based therapeutics, an emerging field of medicine that targets bioactive signaling lipids for treating a wide range of human disease. Lpath's ImmuneY2 drug-discovery engine has the unique ability to generate therapeutic antibodies that bind to and inhibit bioactive lipids that contribute to disease. The company has developed three drug candidates, two of which -- iSONEP for wet AMD and ASONEP for cancer -- have completed Phase 1 clinical trials. Lpath entered into an agreement with Pfizer (PFE) in 2010 that provides Pfizer an exclusive option for a worldwide license to develop and commercialize iSONEP. For more information, visit http://www.Lpath.com.

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New Published Paper Shows Efficacy of Lpath's Anti-LPA Antibody, Lpathomab, in Spinal Cord Injury Models

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BALTIMORE, July 30, 2012 /PRNewswire/ --Silverman, Thompson, Slutkin & Whiteattorneys Andrew G. Slutkin and Jamison G. White recently settled a medical malpractice case for $4 million on behalf of a 48 year-old man who suffered a spinal cord injury following his health care providers' failure to timely diagnose and treat a herniated disk in his neck that was pressing on his spinal cord. In the lawsuit, the man alleged that he initially presented to a hospital's emergency room with a week-long history of excruciating neck pain, tingling in his arm and recent weakness in his leg. Despite these clear warning signs that the spinal cord was being compressed, and the added knowledge that the man had failed pain medications and steroids that his orthopedic surgeon had prescribed just a few days earlier, the health care provider in the emergency room dismissed his concerns, diagnosed him with a muscle strain and sent him home, attorney Andrew Slutkin said.

Just three hours later, while at home, the man suddenly developed weakness in both his arms and legs. He was subsequently transported to a second hospital where health care providers failed, over the next 5 hours, to take him for an emergent MRI, the only radiology study that would have confirmed or ruled out a spinal cord injury. Once an MRI was eventually performed later that evening, it confirmed the presence of a large herniated disk compressing the man's spinal cord. Shockingly, despite this clear danger to the man, the neurosurgeon who was contacted chose not to come into the hospital that evening to perform surgery to remove the disk and decompress the spinal cord. Overnight, the man's weakness progressed to complete and irreversible spinal cord injury.

About Silverman, Thompson, Slutkin & White's Civil Litigation and Catastrophic Medical Practice Division

Andrew G. Slutkin and Jamison G. White are experienced trial lawyers who concentrate their practice in complex civil litigation primarily representing plaintiffs in catastrophic injury matters, such as complex medical malpractice cases, wrongful death cases, product liability cases and cases involving major collisions. They also handle a select number of business litigation matters.

Mr. Slutkin and Mr. White annually obtain million dollar plus settlements and verdicts for their clients. In fact, they have been lead trial counsel in some of the largest multi-million dollar injury verdicts and settlements in the area.

Mr. Slutkin and Mr. White are part of the STSW team, an AV rated law firm by Martindale-Hubbell. STSW, a full-service law firm, is widely regarded as one of the premier litigation firms in the mid-Atlantic region. They have achieved extraordinary success for their clients across Maryland and throughout the United States. For more information about the depth and breadth of their services, please visit http://www.mdattorney.com.

CONTACT: Karen McGagh, 1-443-632-4217, karen@karenmcgagh.com

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Silverman, Thompson, Slutkin & White Recovers $4M on Behalf of Disabled Father of Three Children

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

Advanced Cell Technology, Inc. (ACT; OTCBB: ACTC), a leader in the field of regenerative medicine, today announced treatment of the final patient in the first patient cohort in its Phase 1/2 clinical trial for Stargardts macular dystrophy (SMD) using retinal pigment epithelial (RPE) cells derived from human embryonic stem cells (hESCs). The surgery was performed on Friday, July 27 at Moorfields Eye Hospital in London, the same site as the first two treatments, by a team of surgeons led by Professor James Bainbridge, consultant surgeon at Moorfields and Chair of Retinal Studies at University College London. The outpatient transplant surgery was performed successfully without any complications, and the patient is recovering uneventfully. This is the tenth patient overall to now be treated with the RPE cell therapy developed by the company.

Our European trial is making very steady progress, having now completed enrollment of the first patient cohort, commented Gary Rabin, chairman and CEO. We are very encouraged and look forward to receiving clearance to initiate the treatment of the second patient cohort in the coming weeks.

The Phase 1/2 trial is designed to determine the safety and tolerability of hESC-derived RPE cells following sub-retinal transplantation in patients with SMD at 12 months, the studys primary endpoint. It will involve a total of 12 patients, with cohorts of three patients each in an ascending dosage format. It is similar in design to the U.S. trial for SMD that was initiated in July 2011.

This is a significant month for the company, continued Mr. Rabin. One year ago we treated the first of our patients in our two U.S. clinical trials. The one-year follow-up for those initial patients indicates that the improvements in visual acuity we initially reported have in fact persisted now for a year. Indeed, we are consistently observing improvements in subjective and objective visual acuity for patients being treated at the various clinical centers involved in our trials. Again, these trials are still at very early stages, but these preliminary results indicate that we are on the right track.

The European Medicines Agency's (EMA) Committee for Orphan Medicinal Products (COMP) has officially designated ACT's human embryonic stem cell (hESC)-derived retinal pigment epithelial (RPE) cells as an orphan medicinal product for the treatment of SMD.

About Stargardts Disease

Stargardts disease or Stargardts Macular Dystrophy is a genetic disease that causes progressive vision loss, usually starting in children between 10 to 20 years of age. Eventually, blindness results from photoreceptor loss associated with degeneration in the pigmented layer of the retina, called the retinal pigment epithelium, which is the site of damage that the company believes the hESC-derived RPE may be able to target for repair after administration.

About Advanced Cell Technology, Inc.

Advanced Cell Technology, Inc. is a biotechnology company applying cellular technology in the field of regenerative medicine. For more information, visit http://www.advancedcell.com.

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ACT Treats 10th Patient in Embryonic Stem Cell Trials for Macular Degeneration

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On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 genes. It was the final session of the Foundation for Retinal Researchs bi-annual LCA family conference, and I was there to discuss the history of gene therapy. But I zapped through that quickly, because the future is much more intriguing.

Exome sequencing identified the rare mutation that causes Gavin Stevens hereditary blindness (Leber congenital amaurosis, or LCA). (Jennifer Stevens)

The excitement pervading the room that day was palpable, following a day of scientific updates, and not only because those with young children were soon to visit Sesame World and the sights of Philadelphia.

Jennifer and Troy Stevens exemplified that hope. Two years earlier, at this conference, theyd learned that researchers had been unable to identify a mutation behind their toddler Gavins blindness. Now they know the name of their gene: NMNAT1. Ill return to their story.

The star of the 2010 conference had been 10-year-old Corey Haas and an energetic young sheepdog, both cured of LCA with gene therapy. This weekend, the stars were the new programs and technologies that would allow other families to join Coreys and not just those with blindness.

The rare disease community in the US collectively belies its name: at least 30 million people suffer from 7,000+ diseases, many so rare that they hover beneath the radar of big pharma. But maybe not for long, thanks to the following recent reasons to cheer:

#1: GENE THERAPY PENDING APPROVAL

On July 20, the European Medicines Agency (EMA) announced impending first approval of a gene therapy in the western world.

Its for lipoprotein lipase deficiency (LPLD). The enzyme normally breaks down tiny triglyceride-packed globules called chylomicrons, and its absence causes episodes of very painful pancreatitis that can be fatal. LPLD is an ultra-rare disease, striking 1-2 people per million. And the only treatment is a diet so low in fat that most patients cant stick to it.

The gene therapy, Glybera, consists of adeno-associated virus type 1 delivering an overactive variant of the LPL gene, injected into a leg muscle during a single day. But not many people have had it.

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Rare Diseases: 5 Recent Reasons to Cheer

Recommendation and review posted by Bethany Smith

Published Monday, July 30, 2012, 5:44 AM

Updated Monday, July 30, 2012, 5:44 AM

Irish researchers have discovered a new gene class which could be instrumental in the prevention of epileptic seizures.

Researchers from the Royal College of Surgeons in Ireland, along with clinicians at Beaumont Hospital and experts from Madrids Cajal Institute, believe they have discovered a new gene class which could be instrumental in the prevention of epileptic seizures.

TheJournal.ie reports that the team of researchers have discovered a new gene class called MicroRNA. This particular gene, specifically MicroRNA-13, is more abundant in the part of the brain that triggers epileptic seizures.

Professor David C Henshall, the senior author of the research and member of the Department of Physiology and Medical Physics at the RCSI said: We have been looking to find what goes wrong inside brain cells to trigger epilepsy. Our research has discovered a completely new gene linked to epilepsy and it shows how we can target this gene using drug-like molecules to reduce the brains susceptibility to seizures and the frequency in which they occur.

The researchers work was published in Nature Medicine medical journal and outlines the steps in which new drug therapies could work with the gene in order to prevent epileptic seizures. As explained in their paper, the researchers used a new type of drug-like molecule called antagomir which seems to lock onto the microRNA-13 gene and remove it from the brain cell, thus preventing the seizures. TheJournal.ie goes on to report that approximately 37,000 people in Ireland are affected by epilepsy, with one in three of that population still suffering despite being prescribed medication.

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Irish researchers discover new gene class that could help prevent epileptic seizures

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Each year, more than 1850 Australians die from skin cancer. Source: Supplied

SCIENTISTS have identified a gene mutation found exclusively in deadly skin cancers caused by exposure to ultraviolet radiation.

The discovery by Yale University researchers in the US, in collaboration with the Queensland Institute of Medical Research could eventually lead to new drugs to target the mutation found in about nine per cent of melanoma patients.

The finding emerged from the largest melanoma gene study to date, which involved the examination of every gene in 147 skin cancers.

Professor Nick Hayward from the QIMR's Oncogenomics Laboratory said scientists also showed the mutation promoted malignant cell growth, spreading the cancer beyond the skin to critical organs.

Most importantly, the mutation was caused by exposure to sunlight.

"This mutation was exclusively found in melanomas on parts of the body that were exposed to sunlight," Prof Hayward told AAP.

"The actual mutation itself has a chemical or molecular signature that indicates it was likely caused by ultraviolet light," he said.

"This particular defect seems to be one that occurs in melanomas that have had excessive sun exposure."

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Mutant gene linked to skin cancer

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Public release date: 29-Jul-2012 [ | E-mail | Share ]

Contact: Mary Jane Gore mary.gore@duke.edu 919-660-1309 Duke University Medical Center

DURHAM, N.C. Alternating hemiplegia of childhood (AHC) is a very rare disorder that causes paralysis that freezes one side of the body and then the other in devastating bouts that arise at unpredictable intervals. Seizures, learning disabilities and difficulty walking are common among patients with this diagnosis.

Researchers at Duke University Medical Center have now discovered that mutations in one gene cause the disease in the majority of patients with a diagnosis of AHC, and because of the root problem they discovered, a treatment may become possible.

The study was published online on July 29 in Nature Genetics.

AHC is almost always a sporadic disease, which means that typically no one else in the family has the disease, said Erin Heinzen, Ph.D., co-author of the study and Assistant Professor of Medicine in the Section of Medical Genetics. "Knowing that we were looking for genetic mutations in children with this disease that were absent in the healthy parents, we carefully compared the genomes of seven AHC patients and their unaffected parents. When we found new mutations in all seven children in the same gene we knew we had found the cause of this disease."

All of the mutations were found in a gene that encodes ATP1A3, one piece of a key transporter molecule that normally would move sodium and potassium ions across a channel between neurons (nerve cells) to regulate brain activity.

In a remarkably broad international collaborative effort, the authors partnered with three family foundations (USA, Italy and France), including scientists from 13 different countries, to study an additional 95 patients and showed over 75 percent had disease-causing mutations in the gene for ATP1A3.

"This study is an excellent example of how genetic research conducted on a world-wide scale really can make a difference for such a rare disorder as AHC," said Arn van den Maagdenberg, Ph.D., and co-author on the study and geneticist from Leiden University Medical Centre in the Netherlands. "It truly was an effort from many research groups that led to this remarkable discovery."

"This kind of discovery really brings home just what the human genome project and next-generation sequencing have made possible," said David Goldstein, Ph.D., Director of the Duke Center for Human Genome Variation and co-senior author on the study. "For a disease like this one with virtually no large families to study, it would have been very difficult to find the gene before next-generation sequencing."

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Gene discovery set to help with mysterious paralysis of childhood

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Scientists have identified a gene mutation found exclusively in deadly skin cancers caused by exposure to ultraviolet radiation.

The discovery by Yale University researchers in the US, in collaboration with the Queensland Institute of Medical Research, could eventually lead to new drugs to target the mutation found in about nine per cent of melanoma patients.

The finding emerged from the largest melanoma gene study to date, which involved the examination of every gene in 147 skin cancers.

Professor Nick Hayward from the QIMR's Oncogenomics Laboratory said scientists also showed the mutation promoted malignant cell growth, spreading the cancer beyond the skin to critical organs.

Most importantly, the mutation was caused by exposure to sunlight.

'This mutation was exclusively found in melanomas on parts of the body that were exposed to sunlight,' Prof Hayward told AAP.

'The actual mutation itself has a chemical or molecular signature that indicates it was likely caused by ultraviolet light,' he said.

'This particular defect seems to be one that occurs in melanomas that have had excessive sun exposure.'

The abnormality in the RAC1 gene is the third most frequent cancer-driving mutation found in melanomas, but the two other most common mutations - BRAF and NRAS - do not have the characteristic of ultraviolet light exposure.

Prof Hayward predicted that pharmaceutical companies might already be thinking about how to target with drugs this particular type of defect, because of its biological similarities with other gene mutations.

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Skin cancer gene linked to sun exposure

Recommendation and review posted by Bethany Smith

One startup, H3 Biomedicines, uses genome data to design drugs aimed at small groups of patients.

Scott Balmer

A growing effort to personalize cancer medicine tries to link existing drugs to patients based on the specific genetic and molecular anomalies of a patient's cancer (see "Foundation Medicine: Personalizing Cancer Drugs"). But H3 Biomedicines, a startup in Cambridge, Massachusetts, wants to personalize cancer drugs from the beginning by designing drugs to target specific patient populations.

The company is taking advantage of cancer genome datathe DNA sequences of tumors from thousands of patientsmade available by the National Institutes of Health as The Cancer Genome Atlas (TCGA), and by the International Cancer Genome Consortium. When the company analyzed the first 3,000 cancer genomes in the TCGA web portal, it looked for cancer mutations that were shared by at least 1 percent of different cancer types. "Everything that occurs in greater than 10 percent was a known oncogene or known tumor suppressor [the two main classes of cancer-associated genes]," says Markus Warmuth, CEO of the company. But that was not the case for the less common mutations. For mutations shared between 1 and 10 percent of cancers, especially those shared by 5 percent or less of cancers, "most everything was novel," says Warmuth.

The lesson may be that cancer drugs will not play into the pharmaceutical industry's previous search for blockbuster drugs. "There's not some big novel cancer gene that no one had known before, one that induces 50 percent of breast cancer and 65 percent of lung cancer. That's not what the data tells us," says Warmuth.

So the company plans to develop drugs based on promising targets that may benefit only a small percentage of patients with a given cancer type. But another emerging theme in cancer discovery may increase the number of potential patients for any of H3's potential drugs: tumors in very different parts of the body can share some of the same genetic and molecular abnormalities. H3's lead target mutation can be found in some skin, breast, and blood cell cancers, with frequencies ranging from 3 percent to 10 percent for each.

They may need that time to address another challengehow to find the right patients to test its drugs. Many drug development trials in the past are thought to have failed because too many patients in the trial could not respond to the treatment. "Those patients would never respond to the drug because they don't actually have the genes that would respond," says Kevin Dalby, a medicinal chemist at the University of Texas at Austin. "So by knowing what you are looking for, you can choose your population much more astutely, so you would have a much better chance of having a successful clinical trial."

Warmuth thinks that the dropping cost of DNA sequencing will provide an opportunity to solve the patient problem. Rather than enrolling patients in a clinical trial and then determining whether they carry the particular mutation targeted by a candidate drug, patients could have their tumor's genome sequenced and then share the information in a database available to pharmaceutical companies. "Then you could more proactively approach patients in the future, and ask them if they are willing to become part of a clinical trial as drugs are being developed for particular genetic [changes]."

Link:
Cancer Genomes Let Drugmakers Get Personal

Recommendation and review posted by Bethany Smith

Scientific Media Release

30 July 2012

FRUIT FLIES LIGHT THE WAY FOR A*STAR SCIENTISTS TO PINPOINT GENETIC CHANGES THAT SPELL CANCER

1. By studying fruit flies, scientists at A*STARs Institute of Molecular and Cell Biology (IMCB) have successfully devised a fast and cost-saving way to uncover genetic changes that have a higher potential to cause cancer. With this new approach, researchers will now be able to rapidly distinguish the range of genetic changes that are causally linked to cancer (i.e. driver mutations) versus those with limited impact on cancer progression. This research paves the way for doctors to design more targeted treatment against the different cancer types, based on the specific cancer-linked mutations present in the patient. This study published in the prestigious journal Genes & Development could help advance the development of personalised medicine in cancer care and treatment.

2. The era of genomic sequencing has generated an unparalleled wealth of information on the complexity of genetic changes that occur as cancer develops and progresses. Many genetic changes arise in cancer cells and changes continue to accumulate during the progression of disease to metastatic cancer[1]. The current challenge is to understand which of the many genetic changes are important drivers of disease progression said Dr. Stephen Cohen, Principal Investigator at IMCB and team leader of this paper.

3. Though very different in many ways, fruit flies and humans share similarities in a remarkable two-thirds of their genomes. That is to say, many of the genes found in humans are also present in the flies. Similarly, various signalling pathways involved in tumour formation are also well conserved from fruit flies to humans. In fact, previous studies have shown that about 75 percent of known human disease genes have a recognisable match in the genome of fruit flies[2].

4. Leveraging on their genetic similarities, Dr Hctor Herranz, a post-doctorate from the Dr Cohens team developed an innovative strategy to genetically screen the whole fly genome for cooperating cancer genes. On their own, these are the genes that appear to be harmless and have little or no impact on cancer. But in fact, they cooperate with other cancer genes, so that the combination causes aggressive cancer, which neither would cause alone.

5. In this study, the team was specifically looking for genes that could cooperate with EGFR[3] driver mutation, a genetic change commonly associated with breast and lung cancers in humans. SOCS5, reported in this paper, is one of the several new cooperating cancer genes to be identified through this innovative approach. Most of these new-found genes have yet to be identified as cancer genes in human or mouse models.

6. Said Mr Xin Hong, a PhD student and the co-first author of this paper, We were very surprised by our finding because this it the first time that the Socs gene family is found to be linked to cancer. Previously it has only been associated with immunological disorders.

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:: 30, Jul 2012 :: FRUIT FLIES LIGHT THE WAY FOR A*STAR SCIENTISTS TO PINPOINT GENETIC CHANGES THAT SPELL CANCER

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OMAHA, Neb.--(BUSINESS WIRE)--

Transgenomic, Inc. (OTC/BB: TBIO) and the Medical College of Wisconsin (MCW) today announced a collaboration agreement under which Transgenomic will offer next-generation genetic testing services performed at the MCW Clinical Sequencing Program. These services will initially include Transgenomics NuclearMitome Test for mitochondrial disorders.

Under the agreement, the MCW laboratory will become the first laboratory to offer Transgenomics NuclearMitome Test. The NuclearMitome Test employs next-generation sequencing technology to identify mutations in 448 genes that are considered important for mitochondrial function, representing the most comprehensive genetic test available for mitochondrial disorders. Mitochondrial disorders are often caused by inherited or acquired mutations in mitochondrial DNA and can result in symptoms affecting multiple organ systems, including the liver, the brain and nervous system, kidneys, and cardiovascular function.

The NuclearMitome Test is designed to improve the speed and precision of diagnosis for a host of mitochondrial disorders, allowing clinicians to plan the most effective treatment strategy, said Craig Tuttle, Chief Executive Officer of Transgenomic. The Medical College of Wisconsin is a world-renowned institution with a robust presence in genomics and genetic testing. This collaboration allows Transgenomic to rapidly expand the commercial use of our NuclearMitome Test in addition to building out our offerings in whole genome and exome testing. We look forward to working with MCW, and to building rapid value through these products.

Diagnosing mitochondrial disorders can be quite challenging and, until now, has typically involved the use of wide-ranging genetic and non-genetic tests as well as consultation with various medical specialties, said Howard Jacob, Ph.D., Director of the Human and Molecular Genetics Center at MCW. The ability to evaluate 400-plus genes with one diagnostic tool should shorten patients diagnostic odysseys and provide faster answers. We look forward to a successful partnership.

About Mitochondrial Diseases

Mitochondrial diseases are the most common metabolic diseases of childhood with an estimated frequency of 1 in 2000 births. They are characterized by multi-organ involvement, particularly neuromuscular symptoms, and often follow a rapidly progressive course. The variability in clinical presentation makes diagnosis tremendously challenging, as it traditionally relies on often-inconclusive enzymatic analyses that do not pinpoint the underlying molecular defect. Knowledge of the specific cause of disease can be important for developing personalized treatment strategies.

About the Medical College of Wisconsin

The Medical College of Wisconsin is the states only private medical school and health sciences graduate school. Founded in 1893, it is dedicated to leadership and excellence in education, patient care, research and service. More than 1,200 students are enrolled in the Medical Colleges medical school and graduate school programs. A major national research center, it is the largest research institution in the Milwaukee metro area and second largest in Wisconsin. In FY 2010 11, faculty received more than $175 million in external support for research, teaching, training and related purposes, of which more than $161 million is for research. This total includes highly competitive research and training awards from the National Institutes of Health (NIH). Annually, College faculty direct or collaborate on more than 2,200 research studies, including clinical trials. Additionally, more than 1,350 physicians provide care in virtually every specialty of medicine for more than 400,000 patients annually. In partnership with Childrens Hospital and Health System, MCW developed one of the first whole genome sequencing clinics.

About Transgenomic, Inc.

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Transgenomic and the Medical College of Wisconsin Announce Collaboration to Provide Next-Generation Sequencing Testing

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Singapore, July 30, 2012 - (ACN Newswire) - By studying fruit flies, scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) have successfully devised a fast and cost-saving way to uncover genetic changes that have a higher potential to cause cancer. With this new approach, researchers will now be able to rapidly distinguish the range of genetic changes that are causally linked to cancer (i.e. "driver" mutations) versus those with limited impact on cancer progression. This research paves the way for doctors to design more targeted treatment against the different cancer types, based on the specific cancer-linked mutations present in the patient. This study published in the prestigious journal Genes & Development could help advance the development of personalised medicinein cancer care and treatment.

The era of genomic sequencing has generated an unparalleled wealth of information on the complexity of genetic changes that occur as cancer develops and progresses. "Many genetic changes arise in cancer cells and changes continue to accumulate during the progression of disease to metastatic cancer[1]. The current challenge is to understand which of the many genetic changes are important drivers of disease progression" said Dr. Stephen Cohen, Principal Investigator at IMCB and team leader of this paper.

Though very different in many ways, fruit flies and humans share similarities in a remarkable two-thirds of their genomes. That is to say, many of the genes found in humans are also present in the flies. Similarly, various signalling pathways involved in tumour formation are also well conserved from fruit flies to humans. In fact, previous studies have shown that about 75 percent of known human disease genes have a recognisable match in the genome offruit flies[2].

Leveraging on their genetic similarities, Dr Hector Herranz, a post-doctorate from the Dr Cohen's team developed an innovative strategy to genetically screen the whole fly genome for "cooperating" cancer genes. On their own, theseare the genes that appear to be harmless and have little or no impact on cancer. But in fact, they cooperate with other cancer genes, so that the combination causes aggressive cancer, which neither would cause alone.

In this study, the team was specifically looking for genes that could cooperate with EGFR[3] "driver" mutation, a genetic change commonly associated with breast and lung cancers in humans. SOCS5, reported in this paper, is one of the several new "cooperating" cancer genes to beidentified through this innovative approach. Most of these new-found genes have yet to be identified as cancer genes in human or mouse models.

Said Mr Xin Hong, a PhD student and the co-first author of this paper, "We were very surprised by our finding because this it the first time that the Socs gene family is found to be linked to cancer. Previously it has only been associated with immunological disorders."

Dr. Cohen added, "Though these studies are in the early stages, they are very promising. Already, there are indications that levels of SOCS5 expression are reduced in breast cancer, and patients with low levels of SOCS5 have poor prognosis."

The IMCB team is preparing to explore the use of SOCS5 as a biomarker in diagnosis forcancer.

Said Professor Wanjin Hong, Executive Director of IMCB, "This study sheds light on the complexities of cancer genetics and paves the way to accelerate development of personalised medicine in cancer care. It is a fine examples of how powerful genetic approach using the fly model can reveal molecular mechanisms underlying human cancer. More importantly, it shows how fundamental research can have far-reaching applications for potential clinical benefits."

Notes for editor: The research findings described in this media release can be found in the 15 July 2012 issue of Genes & Developmentunder the title, "Oncogenic cooperation between SOCS family proteins and EGFR identified using a Drosophila epithelial transformation model" Hector Herranz[1,5], Xin Hong[1,2,5], Nguyen Thanh Hung[3], P. Mathijs Voorhoeve[3,4] and Stephen M. Cohen[1,2,6].

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Fruit Flies Light the Way for A*STAR Scientists to Pinpoint Genetic Changes that Spell Cancer

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NOT many sheep breeders can say they played a part in breaking a world record.

But Quamby Plains stud principal Richard Archer, who runs 60 Corriedale stud ewes and 2500 flock ewes at Hagley in Tasmania, did just that.

Six years ago he sold a ram to Uruguayan breeders the Sanz family, who had travelled from South America to look at Corriedale genetics.

The keen breeders spotted a ram they liked on Mr Archer's farm and so the story began.

"They shipped him back to South America, and he is now one of the top Uruguayan Corriedale sires," he said.

And earlier this year at the World Corriedale Conference in Brazil, the story stepped up a notch.

"One of my ram's sons sold at the sale for $42,500," he said. "That's a world Corriedale record."

Mr Archer says the record will put Australian Corriedale genetics in the spotlight.

"It's rare that something like this happens," he said.

"But Australian genetics are as good as anywhere in the world."

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Tassie Corriedale genetics break a record

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ScienceDaily (July 29, 2012) Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1. Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy.

LCA is an inherited retinal degenerative disease characterized by reduced vision in infancy. Within the first few months of life, parents usually notice a lack of visual responsiveness and unusual roving eye movements known as nystagmus. LCA typically involves only vision problems, but can be accompanied by disease in other organ systems in a minority of patients. LCA is a common reason children are enrolled in schools for the blind.

"The immediate benefit of this discovery is that affected patients with mutations in this new LCA gene now know the cause of their condition," said Eric Pierce, M.D., Ph.D., co-senior author and director of the Ocular Genomics Institute at Mass. Eye and Ear. "Scientists now have another piece to the puzzle as to why some children are born with LCA and decreased vision. The long-term goal of our research is to develop therapies to limit or prevent vision loss from these disorders."

NMNAT1 is the 18th identified LCA gene. The gene resides in a region that was known to harbor an LCA gene since 2003, but the specific disease gene has been undiscovered until now. These findings will be published on July 29 in the online edition of Nature Genetics.

To identify NMNAT1, scientists performed whole exome sequencing of the family of two siblings who initially presented for evaluation of LCA but who had no mutations in any of the known LCA genes. Being seen by a multi-disciplinary team that took the case from careful clinical characterization to genetic testing to the research laboratory was an essential ingredient for success.

"By using whole exome sequencing, we found a mutation in a gene that no one could have predicted would be associated with LCA," said Dr. Pierce.

"Whereas most of the known LCA genes involve dysfunction of retinal ciliary proteins necessary for light detection in the eye, NMNAT1 is uniquely distinguished by being the first metabolic enzyme linked to LCA," said Marni J. Falk, M.D., co-first author and Clinical Geneticist at The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine.

Having found a mutation in NMNAT1 in this one family, the investigators next asked if mutations in NMNAT1 also cause disease in other patients with LCA. Screening of 284 unrelated patients with LCA from the United States, England, France and India allowed them to identify 13 other patients with mutations in NMNAT1 as the cause of their disease.

Drs. Falk, Pierce and colleagues also studied how the identified mutations in NMNAT1 affect the function of the NMNAT1 protein, and thus may cause dysfunction and death of the light sensitive photoreceptor cells in the retina. Working together with Eiko Nakamaru-Ogiso, Ph.D., in the Department of Biochemistry and Biophysics at The University of Pennsylvania, they found that mutations in NMNAT1 appear to decrease the ability of the NMNAT1 protein to produce NAD+, a key mediator of cellular signaling and energetics.

Early treatment for patients with NMNAT1-related LCA could be especially beneficial.

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Elusive gene that causes a form of blindness from birth dlscovered

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Youve been in a terrible accident. Everyone says that you are lucky to have survived, and you are. But a severe spinal cord injury means you cant use your hands for the simplest tasks. Your family brushes your teeth and dresses you each day. Youve lost bowel and bladder control. Sex will never be the same. But there is an alternative: a neuroprosthesis (a prosthetic nervous system) could restore function to your body, part by part.

This remarkable technology exists, but you cant have it.

Its all economics, explains Julie Jacono, director of Case Western Reserve Universitys Institute for Functional Restoration (IFR), a nonprofit corporate surrogate that is pushing forward the final stage of testing for a platform of six neuroprostheses. The various implantable devices can each restore function to different parts of the bodyallowing paralyzed patients to do things like stand again or move their hands. Its incredibly promising. But because so few people suffer from spinal cord injuries, it isnt profitable for a company to take the technology to market.

Most of us assume that once discoveries are uncovered in the lab, theyll eventually make their way to patients. Its a field of dreams story, that if you build it they will come, says P. Hunter Peckham, bioengineering professor and executive director of the Institute. But I think we all know that thats not the way any of these things work.

According to the National Spinal Cord Injury Statistical Center, there are about 270,000 people in the U.S. with spinal cord injuries. Compared to the number of people suffering from more common conditions like diabetes or heart disease, says Jacono, we are a decimal point in potential market size.

They may not be hugely profitable, but the devices allow people to move again. Using an implantable pulse generator and series of electrodes, the devices create a parallel nervous system. Electrical stimulation runs through the wires to muscles and organs, thus returning function to the hands, bowels and bladder, restoring trunk control, cough reflex, relieving pressure sores, or even helping people stand again. The team is rolling out a plan to integrate multiple devices and wire them across a network.

Thus far, theyve yet to run across a patient for whom the devices dont restore some function. Peckham describes what hes seen with the upper extremity device: turn it on, and they regain hand function. Turn it off again, theyre paralyzed.

In the world of spinal cord injury theres exactly the kind of technology that people have had access to for decadeswheel chairs, assistive technology. Then theres the hope of a cure, through stem cells or some kind of natural, neurological regeneration. Theres no timetable to that, says Jacono. What we can deliver is a true reversal of spinal cord injury, for select functions, and we can do that in the near term.

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Circumventing the Market to Relieve Paralysis

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Earlier this summer we told you the story of the Mohr family of Ute, Iowa traveling the state in hopes of finding answers.

Their ten year old grandson Taylor is battling a fatal neurodegenerative illness called Batten Disease.

Like other rare diseases of its kind, Batten Disease currently has no treatment or cure.

Researchers have made progress in studying and treating the disease in mice.

But one genetics company is using what they say is a more effective model for mimicking human disease- pigs.

"Pigs are much more similar to humans than rodent models are. They're much more similar in size obviously, the metabolism of a pig is much more similar," said Dr. John Swart, director of Exemplar Genetics.

Exemplar Genetics, which has a lab in Coralville, has recently entered into an agreement with a group of researchers to develop a model to study Huntington's disease- another rare neurodegenerative disease usually beginning to affect people in their late 30's.

"It's really a challenging disease to deal with and there's not a good model today. One of the barriers to drug development is to have that tool and so the tool will allow these research organizations to develop these therapies much more quickly," Swart said.

The company has had recent success with its models.

In fact, it was a new model created byExemplar Genetics that actually led to a breakthrough by University of Iowa researchers in finding effective therapies for cystic fibrosis.

Excerpt from:
Genetics company uses pigs to create model of human disease

Recommendation and review posted by Bethany Smith

DUBLIN--(BUSINESS WIRE)--

Research and Markets (http://www.researchandmarkets.com/research/8h674j/global_genetic_tes) has announced the addition of the "Global Genetic Testing Market Forecast to 2015" report to their offering.

"Global Genetic Testing Market Forecast to 2015", provides an in-depth analysis of the current and future genetic testing market. A comprehensive introduction of gene-based tests, their working principal, types and Direct-to-Consumer (DTC) business methodology is also covered in around 95-page report. On account of our analysis of the past and present market trends, drivers, and existing strengths and challenges, forecast for genetic testing has been drawn, according to which, the market is likely to grow at a CAGR of around 26% during 2012-2015.

The report effectively illustrates the role of genetic testing in diseases, such as Cancer, Cystic Fibrosis, and Alzheimer's. It also incorporates the information on disease prevalence, available tests, and genes responsible/discovered that cause a particular disease. An extensive research and reliable statistics in terms of market size, developments and future performance for emerging sectors namely: Next-Generation Sequencing and Genomic Biomarkers are found inside the report.

The report provides comprehensive analytics of key developments for major markets including the US, Canada, the UK, and Germany. These key developments are likely to set the future of genetic testing market in these countries and that is precisely the reason behind their incorporation in the report.

The report also profiles the eight most active genetic testing market players worldwide: Abbott Laboratories, Beckman Coulter, Roche Diagnostics, Myriad Genetics, Life Technologies, Genomic Health, Sequenom and Transgenomic. For the purpose of effective competitive analysis of the market, these companies are analyzed on five major areas namely: business overview, product offering; financial performance for the last three years, strategic analysis of strengths and weaknesses and key developments.

Companies Mentioned:

- Abbott Laboratories

- Beckman Coulter

- Roche Diagnostics

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Research and Markets: Global Genetic Testing Market Forecast to 2015

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By Lynne Friedmann

A genetic test to predict the risk for prostate cancer could reduce the need for repeat biopsies in men who have previously had negative biopsies.

In a clinical trial, 1,654 men who had prostate biopsies also had genetic studies conducted that looked for the presence of genetic variations that may have an association with prostate cancer risk.

The genetic test outperformed the widely used PSA (Prostate-Specific Antigen) test in assessing cancer risk. Because this genetic score is available at any time in a mans lifetime it could be used as a pre-screening test thus leaving aggressive PSA screening only to men at higher genetic risk.

The goal is to avoid, particularly in older men, unnecessary repeat biopsy procedures which carry with them the risk of infection and potential hospitalizations.

Findings appear in the journal of European Urology.

News release at http://bit.ly/M7iaHV

Inhibiting malaria parasite development

Malaria is responsible worldwide for more than 1.2 million human deaths annually. Severe forms of the disease are caused by the parasite Plasmodium falciparum transmitted to humans by the bite of female Anopheles mosquitoes. Lack of vaccines, together with the parasites ability to develop drug resistance, has thwarted eradication efforts.

An international team of scientists, led by researchers from the Department of Pediatrics at the UC School of Medicine, has identified the first reported inhibitors of a key enzyme essential for the development and survival of P. falciparum even in parasites that developed resistance to currently available drugs.

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Scientists find new genetic test predicts prostate cancer risk

Recommendation and review posted by Bethany Smith

Details Published on Friday, 27 July 2012 00:00

STEM cell therapy is being eyed to cure the neck and back pains and other illnesses of former president and now Pampanga Rep. Gloria Arroyo, alternative medicine doctor Antonia Park said yesterday.

Arroyo went to Parks Green and Young Health and Wellness Center in Tagaytay City yesterday morning for cleansing and alternative healing.

A guard at the La Vista Subdivision in Quezon City, who requested anonymity, said Arroyo left the subdivision at around 7:30 a.m., accompanied by a few staff and a personal nurse. She rode a white Nissan Patrol and her convoy included a gray Toyota Land Cruiser and a police escort.

Arroyo was granted bail Wednesday by a Pasay City court after finding that the electoral sabotage case against her was weak. She posted a P1-million cash bond.

Stem cell treatment involves the introduction of new adult stem cells into the damaged tissue in order to treat a disease or injury. The ability of new cells to regenerate is seen as having significant potential to replace diseased areas of the body, with minimal risk of rejection and side effects.

Park, in a statement distributed to the media, said Arroyo complained of difficulty in swallowing with choking due to her bulge along the posterior pharyngeal wall, together with a change of her voice and losing weight due to her difficulties of swallowing the food (solid) and angina as well as continuous neck and back pain.

Thats why our center is accepting her for possible stem cell therapy and another treatment of pain management and giving natural food by means of fresh fruit and vegetable juices for which management is warranted and which the stem cell therapy is contemplated and strongly considered, she said.

She said the stem cell therapy can be given by her clinic in Tagaytay while Arroyo can continue her physical therapy at the Veterans Memorial Medical Center four times a week.

Park said Arroyo can to go her district, referring to the second district of Pampanga, over the weekend provided she takes care to wear a brace and avoid talking too much so as to protect the bulging interior of the throat, and provided she resumes physical therapy as soon as possible.

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Malaya Business Insight

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