Week 9 Updates: ClinPrior Results, Presentation Preparation
Hi Everyone!
This week, I have some important updates. The ClinPrior catalog is finally complete! It contains information on 44 Finnish individuals affected by a neurodevelopmental disorder. The document focuses primarily on the top 10 genes from each individual that were ranked as highly deleterious by the ClinPrior system. I have noticed some patterns across multiple different cases, and I am confident that some of the genes I have noted play a role in the pathology of neurological diseases. With all that being said, I also encountered some difficulties in correctly analyzing the results that I have compiled.
With the catalog completed, I thought that it would be easier to find the genetic diagnoses of neurological conditions; however, deciphering the information correctly may be a challenge. Although some genes such as the SHANK1, SHANK2, SHANK3 or WASHC1 have been found to contribute to intellectual disabilities or other neurological differences, limiting the diagnosis to one or two genes presents a staunch oversimplification of a subject’s condition. Many neurodevelopmental diseases are polygenic, meaning that several mutations of different genes contribute to the pathology of the disease. With this concept in mind, finding the exact genetic diagnosis of multiple cases will be extremely challenging, if not impossible, in the allotted time frame of this project. As a result, my findings may only focus on a few genes of interest.
Next Steps
I aim to discuss my observations with Dr. Schrauwen and Ms. Acharya. After reviewing the results, I plan to finalize which gene variants I will address in detail in my presentation and poster. In the meantime, I will continue working on my final product and rehearsing my presentation.
Thanks for stopping by!
-Caitlin
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