Presentation Title

Genetic Analysis of Parkinsonism/Dementia and Multiple sclerosis

Advisor Information

Bruce Chase

Location

UNO Criss Library, Room 232

Presentation Type

Oral Presentation

Start Date

6-3-2015 11:45 AM

End Date

6-3-2015 12:00 PM

Abstract

Parkinson’s disease is a neurodegenerative disorder resulting in balance instability, tremor, and slowness of movement. It affects about two percent of individuals over the age of 50 throughout the world. My project’s goal is to identify genetic factors that contribute to this disease. A large kindred (MEN-1) has been identified segregates Parkinsonism and dementia as a genetic trait. Whole genome sequencing has been used to show that these phenotypes are not caused by any of the known genes associated with Parkinsonism or dementia, and has identified variants in candidate genes that could contribute to the disease phenotypes seen in this kindred. I plan to undertake a linkage analysis to identify the chromosomal regions harboring genes for these disease traits. This will provide evidence to guide the choice of which genetic variants in the MEN-1 Kindred should be pursued in future analyses. This could involve the development of assays to evaluate the frequency of novel variants in disease and non-disease cohorts as well as functional studies in cell-culture and animal models.

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Mar 6th, 11:45 AM Mar 6th, 12:00 PM

Genetic Analysis of Parkinsonism/Dementia and Multiple sclerosis

UNO Criss Library, Room 232

Parkinson’s disease is a neurodegenerative disorder resulting in balance instability, tremor, and slowness of movement. It affects about two percent of individuals over the age of 50 throughout the world. My project’s goal is to identify genetic factors that contribute to this disease. A large kindred (MEN-1) has been identified segregates Parkinsonism and dementia as a genetic trait. Whole genome sequencing has been used to show that these phenotypes are not caused by any of the known genes associated with Parkinsonism or dementia, and has identified variants in candidate genes that could contribute to the disease phenotypes seen in this kindred. I plan to undertake a linkage analysis to identify the chromosomal regions harboring genes for these disease traits. This will provide evidence to guide the choice of which genetic variants in the MEN-1 Kindred should be pursued in future analyses. This could involve the development of assays to evaluate the frequency of novel variants in disease and non-disease cohorts as well as functional studies in cell-culture and animal models.