Category: Archive

0 comments

We are happy to announce that five graduates in the Class of 2011 have accepted jobs in Utah. This not only increases the number of genetic counselors in Utah, but also expands into three new subspecialty areas for genetic counselors at the University of Utah: Alzheimer Center, Pediatric Ophthalmology, and Pediatric Cardiology. In addition, two graduates accepted jobs at Lineagen, Inc. and Myriad Genetics. Congratulations to our graduates!

0 comments

Program Director Bonnie J. Baty, MS, LCGC was presented with the Natalie Weissberger Paul Lifetime Achievement Award at the National Society of Genetic Counselors Annual Conference in Dallas, TX on October 15, 2010. The Natalie Weissberger Paul Lifetime Achievement Award is the most distinguished honor within the National Society of Genetic Counselors (NSGC). Natalie Weissberger Paul was a long-time advocate for genetic counselors and NSGC; she was instrumental in promoting the profession in its early years and in securing financial support for numerous initial projects and publications. NSGC established this award in 1994. The annual award honors one outstanding member who has served NSGC with exemplary national achievements and volunteer activities on behalf of NSGC and the profession.

0 comments

The George S. & Dolores Doré Eccles Foundation has awarded 30 genetic counseling fellowships from 2006-2010. Once again, this year the foundation awarded 6 genetic counseling fellowships. Students report that the fellowships make our program more competitive in recruiting quality applicants and have substantially eased their financial burden. We are extremely pleased with our students’ achievements and believe that these grants have been a critical factor in their success.

0 comments

2009 – Two students in the class of 2009 win research awards!

Our program also accomplished an important milestone this year when we received full accreditation from the American Board of Genetic Counseling for the maximum time possible (6 years). 2008

0 comments

In summer of 2008, Amber Mathiesen did a perinatal genetics rotation in in Toronto; Lorraine Naylor did a pediatric genetics rotation in Capetown, South Africa; and Kayla Sheets did a pediatric genetics rotation in Santiago, Chile (in Spanish).

0 comments

Rena Vanzo, MS, LCGC won the first UUGPGC Teaching Award, which is conferred by the second year students and supported by the Division of Medical Genetics. Rena was the genetic counselor in the Metabolic Clinic in the Division of Medical Genetics, Department of Pediatrics. She recently became the first genetic counseling at Lineagen, Inc. Lineagen is a local company focused on complex, genetically linked disorders such as autism.

0 comments

Katie Dunn won the National Society of Genetic Counselors New Leader Award for 2011. Kaite is a genetic counselor at the VA Hospital, a program faculty member, and an alumna of the program. her roles with the genetic counseling program include clinical rotation director for the VA Hospital Adult Genetics/Cancer Genetics rotation, member of the Clinical Supervision Committee, and co-ordinator for the shadowing opportunities for program applicants. Congratulations, Katie!

0 comments

Karin M. Dent, Assistant Professor in Pediatrics and a program faculty member, is serving as President of the National Society of Genetic Counselors for 2011. Karin’s roles with the genetic counseling program have included co-instructing GC Seminar I, Human Genetics, and Clinical Genetics, rotation supervisor in pediatric genetics, and serving on the Curriculum Committee. Congratulations, Karin!

0 comments

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

0 comments

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.