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Three Graduates in Class of 2012 have accepted jobs in Utah
Two students in the Class of 2009 have published their UUGPGC research in peer-reviewed journals.
The McIntyres are parents of a six year old boy who suffers from Duchenne muscular dystrophy (DMD). Carson was diagnosed with DMD at age three and their lives changed forever in that moment. They were to learn that Carson would not be able to play as other children can and he would be confined to a wheelchair in his early teens and most likely lose his battle to DMD in his late teens.
DMD is one of more than 40 types of muscular dystrophy that predominantly affect boys (90% of the time) approximately one boy in 3,500 worldwide. DMD is the number one killer in children today with approximately 20,000 cases reported each year.
Since so little is known about this deadly disease the standard course of treatment was to provide
patient comfort and enjoy what little time they had. That news did not sit well with the McIntyres! They sought out the best doctors and research scientists in the country, and they found a DMD expert right here in the Department of Human Genetics at the University of Utah.
Dr. Kevin Flanigan met with the McIntyres and shared the fateful news about their young son’s future and the bleak picture of research funding. The McIntyres picked up the gauntlet and put every available resource to task to insure funding for DMD research. To date the McIntyres have raised over $150,000 and have vowed to continue until a cure is found and every boy saved from this horrible disease. We salute the McIntyres and their valiant, proactive efforts in support of research.
Mutation Causes Severe Epilepsy, Febrile Seizures that strike thousands of infants, others Worldwide
September 16, 2009 — University of Utah medical researchers have identified a gene with mutations that cause febrile seizures and contribute to a severe form of epilepsy known as Dravet syndrome in some of the most vulnerable patients – infants 6 months and younger.
The discovery means some infants with Dravet syndrome, a type of epilepsy that often begins with fever-induced (febrile) seizures, would benefit from genetic testing to identify whether they have a mutation in the SCN9A gene, which the researchers found causes seizures by affecting sodium channels in the brain. Infants who have the mutation might well be better off not receiving sodium channel blockers, some of the most common anticonvulsant drugs, because they could make a sodium channel-induced seizure worse, the researchers report in the Sept. 18 edition of PLoS Genetics.
The study was a collaboration of researchers from several departments in the U of U School of Medicine and College of Pharmacy, as well as national and international colleagues. First author Nanda A. Singh, Ph.D., a researcher in the University’s Eccles Institute of Human Genetics, said the SCN9A mutation is the fifth gene discovered to cause febrile seizures and, before now, was not suspected in seizures or epilepsy.
“This new gene gives us a much needed novel target for developing more effective drugs to treat those children with debilitating seizures,” Singh said.
Groundwork for the study was laid by two U of U School of Medicine physicians, Joel Thompson, M.D., and Francis M. Filloux, M.D., professors of pediatrics and neurology, who in the 1990s met a patient whose family had a history of the febrile seizures. After studying the DNA of 46 members of the extended family, researchers at the U of U identified an area on chromosome 2 as a likely place to find the gene mutation associated with the family’s seizures. Using that data, they pinpointed the SCN9A mutation as the seizure-causing gene in the family.
To confirm SCN9A’s role, the researchers used technology pioneered by the University of Utah’s 2007 Nobel laureate in medicine, Mario R. Capecchi, Ph.D., to create mouse models with the gene mutation. The researchers tested the animals for seizures and found the mice with the SCN9A mutation had significantly lower thresholds for developing seizures than mice without the mutation.
“The mouse data confirmed that the SCN9A mutation is causing the seizure disorder in this family,” Singh said. The researchers further showed the SCN9A seizure-causing role in approximately 5 percent of 92 unrelated febrile seizure patients.
The SCN9A gene provides instructions for the body to make sodium channels, which act as conduits and gates to let sodium ions into cells and help conduct electricity for neurons to communicate. But when the gene mutates, it can cause seizures by altering sodium channel function in the brain and preventing neurons from firing properly. Mutations in four other genes had been shown in other studies to cause febrile seizures, and one sodium channel gene in particular, SCN1A, has been found in about half of patients with Dravet syndrome. In DNA collected by Belgium researchers, headed by Peter De Jonghe, Singh and her colleagues found additional SCN9A mutations in about 9 percent of Dravet syndrome patients, while 6 percent had both SCN9A and SCN1A gene mutations.
For infants and children who suffer febrile seizures or have Dravet syndrome, the study offers hope where there often is little to be found, according to Kris Hansen, president of the Epilepsy Association of Utah and mother to a child with Dravet syndrome. “Dravet is such a hard syndrome to control, and any research that gives us reasons for what is happening with our children and hope for the future is absolutely amazing,” Hansen said. “This medical breakthrough will bring prospects of relief to families dealing with the ongoing challenges of Dravet syndrome and febrile seizures.”
Febrile seizures are the most common form of early childhood seizures and strike up to 1 in 20 children in North America. Most infants outgrow them, but in some cases the seizures continue into adulthood. Epilepsy is a disorder of many types of seizures that affects nearly 3 million people in the United States, with approximately 200,000 new cases reported each year. Patients with Dravet syndrome can have febrile and other seizures severe enough to stunt mental and social development.
Because half of Dravet syndrome patients have SCN1A a mutations, these patients are tested for that form of the disorder for the mutation. In those who don’t have an SCN1A mutation, Singh suggests a second test could determine if they have an SCN9A mutation. In patients who have one or both of the gene mutations, treatment could be modified to exclude sodium channel-blocking drugs.
The study was funded by the National Institutes of Health, Keck Foundation, and the Salt Lake City-based Ben B. and Iris M. Margolis Foundation.
Plos Genetics Journal complete story link http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1000649
January 21, 2010 –On October 20th, The Leonardo was thrilled to announce that Utah’s own Nobel laureate,
Dr. Mario Capecchi agreed to serve as our senior advisor. “The Leonardo will be an important element in the future education of our community, state, and region,” he said. “I am honored to have been asked to serve in this position.” The Leonardo sought Dr. Capecchi for this role as he is the perfect embodiment of the spirit and mission of this project. His creative approach in analyzing questions that affect society at large through his role as a scientist, his desire to reach out and inspire students, and his vision for the future will help guide The Leonardo as Utah’s Science-Tech-Art Center.
February 22, 2010 –The fall 2009 Society for the Advancement of Genetic Exploration (SAGE)
meeting was held on Tuesday November 3, 2009. The evening was filled with excitement with over 100 individuals in attendance, a new record for SAGE. The new partnership between the Department of Human Genetics and the Leonardo Center brought a new dimension to the evening with 17 Leonardo board members and staff present. Also in attendance were the Bonneville Cycling Club (BCC) officers and ride coordinators, and members of the genetics science community, The Sorenson Molecular Genealogy Foundation and Gene Tree.
Our Keynote speakers, Dr. Ray Gesteland and Dr. Jennifer Logan, delivered a great presentation on personalized medicine and lead a very interesting and timely discussion on the subject…and what it means to us as individuals and the future of health care. After the presentation the attendees met at Health Science Education Building for a lovely gourmet salmon dinner catered by Mountain Thyme. The table conversation was a-buzz with interest on the subject of personalized medicine and was only interrupted by several award presentations: Dr. Mark Leppert and Dr. Mario Capecchi were recognized by SAGE Chair, Carol Fay. “We thank these two great men who have contributed so much not only to the University of Utah and the Department of Human Genetics and our SAGE organization but to science, genetic research and the future of medicine.” Dr’s Leppert and Capecchi were presented with gifts of appreciation.
Following Carol’s remarks she introduced Dr. Lynn Jorde, the department’s new Chair. “Dr. Leppert and Dr. Capecchi are leaving the department in very capable hands. Dr. Lynn Jorde is a remarkable geneticist and educator and will be most valuable to this department and to the university in the future.” The final awards of the evening were presented to the officers and coordinators of Bonneville Cycling Club, 2009 Little Red Riding Hood. Proceeds from the event benefited the Department of Human Genetics. The ride was an enormous undertaking for BCC, whose all volunteer club coordinated this hugely successful ride for 2700 women. Twenty women representing genetics researchers formed the GENE TEAM and Rode for Research. “Fundraising is always challenging and the need for financial support for genetic research is greater than ever. We thank this fine organization for their commitment to fundraising for Human Genetics,” stated Carol in closing.
The next SAGE is scheduled for spring 2010.
The new pipe on the 6th and 7th floors is almost completed.
The contractor has scheduled the 23rd and 24th to shut off the heating water to the 7th floor to make the change over to the new system. The 6th floor will have the system shut off on the 30th of September and the 1st of October for the change over. A formal shut down notice will be sent out to inform everyone of the dates.
Please contact me if you have any questions or concerns.
Everything is pretty much on schedule at this point. They’re working in section C now and are putting in access panels on both floors.