Advisor Information
Bruce Chase
Location
Dr. C.C. and Mabel L. Criss Library
Presentation Type
Poster
Start Date
3-3-2017 2:15 PM
End Date
3-3-2017 3:30 PM
Abstract
Frontotemporal dementia with parkinsonism (FTDP) is a neurodegenerative disease characterized by disturbances in cognition, language, and personality, which also has features of parkinsonism. This disease is associated with multiple genes including two located close together on chromosome 17: MAPT and GRN. Human and medical genetics can be used to identify the genes that contribute to the risk of this disease.
Earlier work in the Chase lab had identified a large Mennonite kindred (MEN-1) where parkinsonism and dementia were found in five members of a nuclear family. These symptoms parallel those seen in FTDP and all of the affected members share a novel GRN DNA variant that does not appear to be pathological. My research sought to understand whether these individuals share a common haplotype - a set of closely linked variants in the region of the MAPT and GRN genes - that might contribute to the phenotypes seen in the MEN-1 kindred. Whole-exome sequencing was used to characterize two additional members of the nuclear family. This data was analyzed using a pipeline in GeneStack, and the resulting variant call files, together with the previously gathered whole genome sequences, are currently being used to assess shared haplotypes using the SHAPEIT2 program at the Oxford Phasing Server.
Genetic Variants Contributing to Frontotemporal Dementia with Parkinsonism
Dr. C.C. and Mabel L. Criss Library
Frontotemporal dementia with parkinsonism (FTDP) is a neurodegenerative disease characterized by disturbances in cognition, language, and personality, which also has features of parkinsonism. This disease is associated with multiple genes including two located close together on chromosome 17: MAPT and GRN. Human and medical genetics can be used to identify the genes that contribute to the risk of this disease.
Earlier work in the Chase lab had identified a large Mennonite kindred (MEN-1) where parkinsonism and dementia were found in five members of a nuclear family. These symptoms parallel those seen in FTDP and all of the affected members share a novel GRN DNA variant that does not appear to be pathological. My research sought to understand whether these individuals share a common haplotype - a set of closely linked variants in the region of the MAPT and GRN genes - that might contribute to the phenotypes seen in the MEN-1 kindred. Whole-exome sequencing was used to characterize two additional members of the nuclear family. This data was analyzed using a pipeline in GeneStack, and the resulting variant call files, together with the previously gathered whole genome sequences, are currently being used to assess shared haplotypes using the SHAPEIT2 program at the Oxford Phasing Server.