Event Title

Genetic Correlations Between GNAO1 Mutations and Epilepsy/EIEE17

Location

Collier Library

Faculty Sponsor(s)

Dr. Cindy L. Stenger, Dr. Jillian Stupiansky

Event Website

https://www.una.edu/studentresearch/index.html

Start Date

24-4-2019 10:00 AM

End Date

24-4-2019 11:00 AM

Document Type

Poster Presentation

Description

The association of genetic mutations with certain disorders have become more apparent over the years, especially with epilepsy and early-infantile epileptic encephalopathy. Globally, more than 50 million people are currently diagnosed with epilepsy. It is already well-known in the genetics world that mutations within the GNAO1 gene cause epilepsy in adults and children while EIEE17 affects infants. In this study, I stress the importance of such wide-spread diseases by making attempts to discover whether or not unknown mutations within GNAO1 cause the same diseases such as epilepsy and EIEE17. For this particular study, interest was mainly heaviest in mutations regarding position 202 of GNAO1 since not very much is known about a mutation with this certain position. Extensive computational research was done on the GNAO1 gene such as creating a slow homology model with YASARA and gathering information from a wild-type and mutated gene. Simulations were run on the wild-type gene and mutated gene by Dr. Jeremy Prokop, and by using the data he provided, I analyzed the data to try and find consequences of the position 202 mutation.

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Apr 24th, 10:00 AM Apr 24th, 11:00 AM

Genetic Correlations Between GNAO1 Mutations and Epilepsy/EIEE17

Collier Library

The association of genetic mutations with certain disorders have become more apparent over the years, especially with epilepsy and early-infantile epileptic encephalopathy. Globally, more than 50 million people are currently diagnosed with epilepsy. It is already well-known in the genetics world that mutations within the GNAO1 gene cause epilepsy in adults and children while EIEE17 affects infants. In this study, I stress the importance of such wide-spread diseases by making attempts to discover whether or not unknown mutations within GNAO1 cause the same diseases such as epilepsy and EIEE17. For this particular study, interest was mainly heaviest in mutations regarding position 202 of GNAO1 since not very much is known about a mutation with this certain position. Extensive computational research was done on the GNAO1 gene such as creating a slow homology model with YASARA and gathering information from a wild-type and mutated gene. Simulations were run on the wild-type gene and mutated gene by Dr. Jeremy Prokop, and by using the data he provided, I analyzed the data to try and find consequences of the position 202 mutation.

https://ir.una.edu/scholarsweek2019/2019/posters/41