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Archive - Sep 22, 2011

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First-Ever Multi-Cellular Model of Zellweger’s Syndrome

Research groups worldwide have tried to develop a simple model of a rare, fatal disease called Zellweger's syndrome but none has succeeded, until researchers at the Faculty of Medicine & Dentistry at the University of Alberta in Canada did so in fruit flies. Zellweger's syndrome is a form of peroxisome biogenesis disorder, a group of deadly genetic diseases that claim the lives of children usually before they reach their first birthday. Researchers have been stumped as to how to make a multi-cellular model they can use to develop treatments. The chair of the Department of Cell Biology, Dr. Richard Rachubinksi, and his Ph.D student Fred Mast, with the help of Drosophila expert Dr. Andrew Simmonds, have been successful in developing a model of Zellweger's syndrome. This syndrome is the most common type of peroxisome biogenesis disorder. "Mating two parents that have the mutated gene gave us a mutant fly that mimicked the human phenotype," said Dr. Rachubinski. The fruit fly is ideal for medical research because its development can be studied from fertilization through to adulthood, and the development is much more rapid than in mice or humans. "The periods that you can allow for development are much shorter in flies so you can look at things much more quickly," said Dr. Rachubinski. "You get two generations per month." It is also less expensive to use Drosophila. As the research group moves forward testing compounds that could be used as pharmaceuticals to treat Zellweger's syndrome, they only have to use minute amounts compared to what would be needed for other laboratory models.

Mayo Scientists Investigate Genetics of Responses to Measles Vaccine

Researchers at the Mayo Clinic are cracking the genetic code that controls the human response to disease vaccination, and they are using this new cipher to answer many of the deep-seated questions that plague vaccinology, including why patients respond so differently to identical vaccines and how to minimize the side effects of vaccination. Led by Dr. Gregory Poland, researchers in Mayo's Vaccine Research Group have published results of two genetic studies that identify mutations linked to immune response to the measles vaccine. The studies were published online (August 26 and August 27, 2011) in the journal Vaccine. "We are trying to understand, to the maximum extent possible, how a person's individual genetic makeup affects response to vaccination," says Dr. Poland. These and similar studies will likely allow physicians to prescribe appropriate doses and timing of vaccines based on routine genetic screening blood tests in the near future. Longer-reaching implications of the vaccine group's work include the development of more effective vaccines and, perhaps someday, the ability to construct personalized vaccines. "Vaccination is the single most important and far-reaching practice in medicine. By the time a child enters school in the United States, they have received upwards of 20 shots," says Dr. Poland. "In no other field of medicine do we do exactly the same thing to everyone — and we do it everywhere in the world." Doctors and epidemiologists have long been puzzled about the genetic underpinnings of the fact that up to 10 percent of recipients fail to respond to the first dose of the measles vaccine, while another 10 percent generate extremely high levels of measles antibodies. The remaining 80 percent fall somewhere in the middle.