Athena Diagnostics to Present Original Research on Neurogenetics at American Academy of Neurology's 2014 Annual Meeting
"Neurogenetics is a rapidly evolving field with great potential to aid the diagnosis and treatment of neurological disorders," said
The presentations will include:
- "Structural and Functional Implications of Modeling Non Synonymous Mutations in Patients with SCN1A-related Seizure Disorders." This work explores a protein computational modeling approach to predicting structural changes in a specific sodium channel in the brain, based on mutations in that channel's corresponding gene, SCN1A. It will be presented in a platform session by Dr. Higgins, medical director, neurology, Athena Diagnostics on
Wednesday, April 30at 3:30 pmand a poster session on Tuesday, April 29from 1:00 pm to 5:00 pmby Dr. Izabela Karbasi, manager of variant science.
- "Zygosity Detection by Next Generation Sequencing in a
Clinical Laboratory." This work compared the analytical accuracy of variant and zygosity detection of two techniques: next-generation sequencing (NGS) technology and Sanger sequencing. It will be presented by Quest's Zhenyuan Wang, PhD, laboratory director; and Christina DiVincenzo, scientist, on Monday, April 28from 3:00 pm to 6:30 pm.
- "The Allelic Spectrum of Charcot-Marie-Tooth Disease in Over 17,000 Individuals with Neuropathy." Researchers assessed the frequency, positive rate, and type of mutations in 14 genes that are associated with Charcot-Marie-Tooth disease, a complex molecular disorder. This work will be co-presented by two Quest representatives:
Christina DiVincenzo, scientist; and Carol Hoffman, PhD, genetic counselor, on Tuesday, April 29from 7:30 am to 9:00 am.
- "Frequencies of Seven Muscle Enzyme Deficiencies in Samples Tested for Myoglobinuria in a
Clinical Laboratory." Researchers focused on determining the frequency distribution of seven enzyme deficiencies in muscle biopsy samples—submitted to a lab for evaluation of myoglobinuria, a muscle disease—with the goal of guiding the use of enzyme tests to diagnose the disease. The presentation, by Malgorzata Jaremko, PhD, senior director of genetics at Quest, will be on Tuesday, April 29from 3:00 pm to 6:30 pm.
- "Analyses of Neural Autoantibodies by a
Clinical Laboratory for the Evaluation of Paraneoplastic and Non-paraneoplastic Neuronal Disorders." This research determined the frequency of certain neural autoantibodies that are associated with non-specific paraneoplastic disorders, cerebellar degeneration, and autoimmune encephalitis, to aid in earlier identification. It will be co-presented by Dr. Higgins, medical director, neurology, Athena Diagnostics and Dr. Brachet, scientist, on Thursday, May 1from 7:30 am to 9:00 am.
Athena Diagnostics will exhibit at booth #813 for the duration of the conference.
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