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May 20, 2013
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Displaying results 1 - 25 of 23 for bio5. Subscribe to this search

  1. article What's Up UA? - UA Geneticists Find Causes for Severe Childhood Epilepsies

    Wednesday, May 8, 2013 5:09 pm

    Researchers at the University of Arizona have successfully determined the genetic mutations causing severe epilepsies in seven out of 10 children for whom the cause of the disorder could not be determined clinically or by conventional genetic testing.

    Instead of sequencing each gene one at a time, the team used a technique called whole-exome sequencing: Rather than combing through all of the roughly 3 billion base pairs of an individual's entire genome, whole-exome-sequencing deciphers only actual genes, and nearly all of them simultaneously.

    "My initial hope was that we would find something in one out of the 10 children in our study. But a 70 percent success rate is beyond anyone's imagination," said study leader Michael Hammer, who is a research scientist in the UA's Arizona Research Labs Division of Biotechnology and a member of the UA BIO5 Institute.
     
    For Hammer, the research hit very close to home. Just last year, his lab tracked down the mutation that had caused the severe – and ultimately fatal – epilepsy in his teenage daughter. 
     
    "I figured, if we could do this for one child, we could do it for others." Hammer explained. "These are children who have had every test imaginable and tried every possible drug combination, and nobody has figured out where their seizures come from and how to stop them."
     
    The children who participated in the study, published online in the journal Epilepsia, all suffered from severe seizure disorders, and most of them started having seizures within the first year or two after birth.
     
    Unlike individuals afflicted with epilepsy later in life, many of whom can live normal lives with the right medical oversight and medications, early-onset epilepsy can be devastating. Children often develop other severe complications such as intellectual disability, autism and loss of muscle tone or coordination. Early death is not uncommon.
     
    "Because their seizures are not well controlled, and that firestorm of electrical activity in the brain is bad for brain development, the damage can be extensive," added Linda Restifo, a professor in the UAdepartment of neurology and a BIO5 member who co-authored the study. "The earlier the seizures start and the more severe and frequent they are, the more likely they are to leave the child with permanent developmental disability."
     
    "The sooner we can catch problems in children and understand what is causing them, the better the chance we have to try and correct them," Hammer added. 
     
    To identify changes in the DNA that are the most likely cause of the disorders, the team focused on a class of mutations called de novo mutations: "typos" in the DNA sequence that are present only in the child. In order to find such mutations, the study included both parents and their child.
     
    Overall, the team found 15 mutations in nine children, seven of which are known or likely to cause epilepsy. No mutations could be found in one of the children. 
     
    "In four of the patients. we found mutations that were already known to be associated with epilepsy," said Krishna Veeramah, a postdoctoral fellow in Hammer's group and the study's first author. "However, three patients had mutations in genes that were not previously associated with epilepsy in humans but presented plausible explanations for the disorder."
     
    "The fact that we found three genes – in a study involving only 10 subjects – that had never been implicated in epilepsy before suggests that many more genetic defects related to developmental brain disorders remain to be discovered," Veeramah said.  
     
    One of the participants in the study was Ashley Wilhelm, a 14-year-old girl from Phoenix, Ariz., whose seizures started when she was only 5 months old. Her first seizures appeared to be triggered by fever, leading doctors to believe they were just that – a side effect of the fever. 
     
    "But she soon began to have more and more seizures, and they would last half an hour or longer," said her mother, Ann. "We had all sorts of tests done, but the doctors kept saying her brain was normal, and that they didn't see any reason she'd have those seizures."
     
    Ashley, whose development has severely suffered as a consequence of the repeated seizures, was enrolled in the study through her neurologist, Dinesh Talwar, who co-authored the paper.
     
    Even though her treatment is unlikely to change with the new information, the family said the results brought "more relief than we can explain."
     
    "Since insurance wouldn't pay for the testing, and we couldn't afford it on our own, we were very grateful we were able to participate in the study," said Jeff Wilhelm, Ashley's father. "If such a test could be done much earlier, it would ease the pain for everyone involved. What if our son had decided not to consider having children of his own out of concern they might have the disorder?"
     
    "The results from this study have at last given us a breakthrough," said the mother of another participating teenager. "We had pursued every possible avenue to understand what might be responsible for his epilepsy – magnetic resonance imaging, CT scans, searches for gross chromosome abnormalities or markers associated with epilepsy – with no success."
     
    "Although the discovery doesn't yet give us a treatment, it gives us hope for finding one," she said. "As more research is done on this mutation, drugs to control our son's seizures will be identified. If more children with epilepsy can be studied and families with children with similar mutations can organize and share resources, there will be more progress."
     
    Hammer said the approach is applicable to other conditions in which conventional genetic testing has failed to reveal the cause.
     
    "Our work bridges research and clinical practice," he added. "We can sequence all the genes in your genome in a matter of days and report it to the patient's family and the physician. That may make a difference in the treatment and management of the disorder in question."
     
    Centers with the capabilities to do this kind of analysis are few and far between.
     
    "Other centers that do this kind of work will sequence your genome and tell you where and what the mutation is in the DNA sequence, but it's not that simple," Hammer said. "In most cases, we find a mutation in a gene not previously known to cause disease, so we need to perform a follow-up study to find out what that mutation actually does."
     
    To perform these follow-up studies, the UA team has established collaborations with leading scientists at the UA and at other institutions.
     
    "Right now, the benefit to families is primarily to get answers," said Restifo. "The long-term goal is to collect this kind of information from more children, which will hopefully lead to new research into medications that improve brain development and function."
     
    Hammer added: "In the meantime, a molecular diagnosis provides immediate relief to the unnecessary guilt parents might feel for their role in causing their child's suffering. They want answers, not endless doctors visits and tests with negative results, or to have their hopes raised and dashed over and over."
     
    Encouraged by the success of their approach so far, Hammer and his colleagues already have bigger plans. 
     
    "We hope to involve other clinical areas such as cardiology, immunology, gastroenterology – anything that we can apply molecular diagnostics or clinical genomics to at the UA, we want to explore. We want to make the University the core for clinical diagnostics using new sequencing technologies for at least the entire Southwest."
     
    UA pediatric geneticist Robert Erickson, another co-author and member of the UA Steele Children's Research Center added, "these efforts will be very important in the diagnosis of newborns with unusual birth defects."
     

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  2. article What's Up UA? - UA Spin-Off to Test Cancer-Preventing Drug Combination

    Tuesday, April 23, 2013 9:38 am

    Cancer Prevention Pharmaceuticals, Inc., or CPP, has helped launch a phase-III clinical trial to test the efficacy of a combination drug that has shown promise of preventing colon cancer. CPP was founded in 2008 to apply decades' worth of systematic, basic research led by University of Arizona professor emeritus Eugene Gerner and former UA researcher Frank Meyskens to improve clinical practice. 

    During the trial, which is funded by the National Cancer Institute, 1,340 colon cancer survivors will receive daily treatment for three years to prevent the occurrence of colorectal cancer or high-risk polyps and compare the effects to a placebo group. 
     
    "Our long-term vision is to change the status quo from treating and managing cancer to intervening before cancer manifests and prevent it altogether," said Jeffrey Jacob, founding CEO of Cancer Prevention Pharmaceuticals. "The idea is just like in the approach to heart disease: Instead of waiting for heart attack or stroke to happen, we give patients cholesterol-lowering or blood pressure-lowering medicine to prevent those events from happening in the first place."
     
    In addition to colorectal cancer, the same treatment approach has shown promise in preventing prostate, skin and possibly other cancers as well. Colorectal cancer affects about 1 million people in the U.S., Jacob said. 
     
    "Our two-drug-combination targets different pathways that are important in cancer development," explained CPP co-founder Eugene Gerner, who retired from the department of cellular and molecular medicine in the UA College of Medicine last year. "Over years of research using cell cultures and mouse models in the lab, we have been able to systematically elucidate the molecular pathways underlying cancer formation and how to target them with those drugs."
     
    This work then was successfully translated to the clinic with the help of the NCI and various research partners.  
     
    One, Sulindac, belongs to of the class of non-steroidal anti-inflammatory drugs, with aspirin being a notable member. Sulindac targets the inflammatory pathway. The other, called Eflornithine, homes in on the  polyamine pathway. Driven by growth factors, this pathway is essential in stimulating growth and development in most living organisms.
     
    In his research, which has been continuously funded by the NCI since 1975, Gerner collaborated closely with Meyskens, who was a professor of medicine at the UA College of Medicine before he moved to University of California, Irvine. Both were members of the Arizona Cancer Center. Even as professor emeritus, Gerner still does research in his lab at the UA and is an active member of the UA's BIO5 Institute. 
     
    Gerner said his group focused on colon cancer in the 1980s because it was the one frequent type of human cancer for which a substantial amount of genetic information became available, especially with the Human Genome Project.
     
    "Our approach strictly focuses on the biological mechanisms and the genetics," Gerner said. "I came to the UA in 1974 and initially worked in cancer therapeutics. By the mid 1980s, I was discouraged by the lack of progress that was being made at the time. So we set out to understand the underlying processes that lead to cancer, such as the roles of various growth factors and cancer-promoting genes. 
     
    According to Jacob, the company's current focus is on intervening with patients facing elevated risk, including cancer survivors or individuals with a genetic predisposition, with the ultimate goal of expand the same approach to other forms of cancer and the general at-risk population. 
     
    Gerner said that many experts estimate at least 70 percent of colorectal cancer are associated with risk factors such as weight gain and a diet high in fat and beef but low in fiber. 
     
    "However, there are a substantial number of individuals who eat perfect diets and exercise, but still face a risk from mutations that arise spontaneously or they inherited," he said. 
     
    "Our drugs are targeting growth and inflammatory pathways leading to the synthesis of polyamines, but diets contain polyamines also. Our company is looking at ways to manage overall risk, including diet, genetic factors and exercise."
     
    In other clinical trials, CPP is also testing the therapy on people with known genetic predispositions to colorectal cancer such as patients with Familial Adenomatous Polyposis, a genetic disease that comes with a nearly 100 percent risk of developing colon cancer before age 40. 
     
    "The only option for most people with FAP is to remove the entire colon in their late teens or early twenties," Gerner said, "and they still face a lifetime of surgeries to control the condition."
     
    Neuroblastoma, a pediatric cancer and the second leading killer of children with cancer, according to Jacob, is another avenue the company is pursuing in a clinical trial. 
     
    In addition to drug therapies, CPP is considering partnerships with food companies to develop certain types of "functional foods" or "medical foods" that would exploit the same science to reduce cancer risk in certain demographics. The company is also developing new diagnostic approaches to identify people who are at higher risk for cancer who could ultimately benefit from specific therapies or medical foods. 
     
    "Part of our ability to reduce risk is having means to assess that risk and evaluate the effectiveness of drugs we are using," Gerner added. "For example, some drugs work better in some people than in others. The goal is to develop diagnostics that tell us about an individual's susceptibility."
     
    David Alberts, director of the UA's Arizona Cancer Center, said: "Gene Gerner and Frank Meyskens, both absolutely brilliant scientists, have transformed exciting laboratory research findings into medications that have the great potential of saving hundreds of thousands of lives. We are very proud that the University of Arizona Cancer Center served as the incubator for this powerful, new chemoprevention technology for colorectal cancer and treatment for recurrent neuroblastoma."
     

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  3. article What's Up UA? - Google Awards Grant for UA-Developed Online Chemistry Course

    Friday, March 8, 2013 9:56 am

    Google, Inc. has granted a University of Arizona chemistry professor $50,000 to develop a free online course to teach chemistry to potentially hundreds of thousands of students.

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  4. article What's Up UA? - Festival Emphasizes Literacy, Love of Learning

    Wednesday, March 6, 2013 10:38 am

    The Tucson Festival of Books has been and remains deeply invested in improving literacy and promoting the love of learning.

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  5. article The Guide

    Wednesday, January 16, 2013 4:00 am

    MOVIES

  6. article The Making of a Researcher

    Friday, January 4, 2013 7:42 pm

    Emile Brink Gordon’s zeal for research at the University of Arizona led him to publish his first peer-reviewed article in the Journal of Virology – a rare achievement for an undergraduate student. His article was one of five spotlighted by the editor as “especially meritorious” and “of significant interest.” His second article has just been accepted. Last fall, Gordon presented his research at the 22nd Biennial Phage and Virus Assembly Conference – also while an undergraduate.

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  7. article Davidson earns ICMA designation

    Wednesday, January 26, 2011 12:00 am

    Marana Town Manager Gilbert Davidson has received the Credentialed Manager designation from International City/County Management Association, the premier local government leadership and management organization. Davidson is one of 1,200 local government management professionals credentialed through the ICMA Voluntary Credentialing Program and one of only 32 in Arizona.

  8. article 2010

    Wednesday, December 29, 2010 12:00 am

    A year has passed. The year 2010 is about to fade into “bolivian”, as Mike Tyson said after his last fight. He meant to say “oblivion”; instead, the furious, troubled and tattooed Tyson, who was inducted into the Boxing Hall of Fame this year, raised eyebrows in an entire South American nation.

  9. article New Year's resolutions for OV

    Wednesday, December 8, 2010 12:00 am

    It has been six months since the new council took office. As we approach the end of the calendar year, I wanted to share my New Year’s resolutions for Oro Valley as we look towards an exciting and bright 2011.

  10. article Terrific confluence

    Wednesday, December 1, 2010 12:00 am

    The biggest news in Oro Valley, and arguably all of Northwest Tucson, may come from a hidden laboratory space off Oracle Road, just across the street from Steam Pump Ranch.

  11. article 'Spirits' linger at BIO5 Oro Valley

    Wednesday, November 24, 2010 12:00 am

    There’s a large mesquite tree on the north side of BIO5 Oro Valley, the University of Arizona’s new research laboratory and business incubator space dedicated Friday afternoon.

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  12. 'Spirits' linger at BIO5 Oro Valley

    Dave Perry/The Explorer, Brendan Frett, a graduate student in medicinal chemistry at the University of Arizona, explained the workings of a nuclear magnetic resonance device in the new BIO5 Oro Valley laboratory. Frett and others gave tours of the building following Friday’s dedication event.

  13. article BIO5 boss excited about new 'bridge'

    Wednesday, November 17, 2010 12:00 am

    BIO5 Institute “is thought of as a place in which people from different disciplines converge and work together,” said its director, Dr. Fernando Martinez, a Regents professor of pediatrics at the University of Arizona.

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  14. article In OV, BIO5 finds an 'ideal fit'

    Wednesday, November 17, 2010 12:00 am

    Passion pours from Chris Hulme when he talks about his beloved Bolton Wanderers football side in the English Premier League.

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  15. article BIO5 strives for synergy

    Wednesday, November 17, 2010 12:00 am

    America has pockets of scientific and business synergy, places where education and industry meet. San Diego, the San Francisco Bay Area, Boston, and North Carolina’s Research Triangle thrive in part because academia and industry are intermingled.

  16. In OV, BIO5 finds an 'ideal fit'

    Dave Perry/The Explorer, Chris Hulme, Ph.D., University of Arizona pharmacy professor and leader of the Arizona Drug Discovery Center, is excited about the opening of BIO5 Oro Valley in the former Sanofi-aventis laboratory building off Oracle Road.

  17. BIO5 boss excited about new 'bridge'

    Photo courtesy Martha Lochert, Dr. Fernando Martinez, director of BIO5.

  18. article Ventana continues its OV growth

    Tuesday, October 19, 2010 11:00 pm

    Explorer staff reports

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  19. article Ventana has a presence at this week's book festival

    Wednesday, March 10, 2010 12:00 am

    Explorer staff report

  20. article Business calendar

    Wednesday, January 13, 2010 12:00 am

    Thursday, Jan. 14

  21. article PBS show looks at AZ astronomy

    Wednesday, November 18, 2009 12:00 am

    For years, the clear skies and minimal lights of the nighttime Southern Arizona desert have attracted major astronomy facilities to the area from around the world. Some have dubbed this part of the state "The Astronomy Capital of the World."

  22. article Town reaps 3 'common ground' awards from alliance

    Sunday, October 25, 2009 11:00 pm

    The Town of Marana won three Common Ground Awards on Oct. 16, when the Metropolitan Pima Alliance announced projects that demonstrated community collaboration.

  23. article UA taps top researcher Martinez to lead BIO5 institute

    Wednesday, February 4, 2009 12:00 am

    One of the world’s top researchers of childhood lung diseases will become the interim director of the BIO5 Institute at the University of Arizona, starting next week.

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