Week 6 Updates: ClinPrior Candidates and Cognition Lecture
Hi Everyone! This week introduced me to a plethora of new information. From finding candidate gene variants with ClinPrior to listening to a lecture on cognition and aging, what I learned this week has brought me closer to answering my original research question.
AI Tools
At this point, the Schrauwen laboratory sees little hope for AI MARRVEL. Besides prioritizing a variant’s allelic frequency over its effects, MARRVEL generally scans intronic variants more than exonic variants. Since intronic variants are non-coding, they are of minimal interest when matching gene variants to specific phenotypes. After MARRVEL produced multiple inaccurate readings and rankings, our efforts have shifted primarily to ClinPrior and its applications.
So far, ClinPrior has produced some interesting leads on the potential genetic diagnoses for neurological diseases. The UGDH gene, for instance, has been linked to epilepsy, among other developmental issues. The results from ClinPrior were insightful; however, it was necessary to look to outside sources to confirm the phenotypes associated with certain genes and gene variants. OMIM, or the Online Mendelian Inheritance in Man, was an extremely useful database in learning about genes, gene variants, and specific phenotypes related to either. In the next few weeks, I hope that my laptop does not RESTART UNEXPECTEDLY and take an ENTIRE HOUR to update right in the middle of my work session as it did this week. Technical difficulties aside, I am looking forward to finding new gene variants and understanding their significance.
Mobile Lab and Internet Based Approaches to Learning about Cognition
Yesterday, after completing some work in the lab, Dr. Schrauwen invited her team to Dr. Matt Huentelman’s lecture on Internet and Mobile Lab-Based Approaches to Study Cognition. Dr. Hunetelman, who studies the aging brain, aimed to develop a study that investigated how the brain changes over time. For the internet-based approach of this study, over 700,000 participants took the MindCrowd brain test, which involved paired-associate learning exams alongside a questionnaire on each subject’s demographic and health information. If you are interested in taking this short test and contributing to the study, please click here.
The mobile-based approach took place in a mobile health lab, a horse trailer repurposed to accommodate a low-field MRI and other equipment to observe brain physiology and activity. Subjects in this mobile-based study participated in the following:
- MindCrowd brain game
- Scent detection activity
- Grip strength testing
The investigators in this lab also collected blood pressure information, blood samples, MRI scans, and retinal images. The image produced by the low-field MRI scan was later completed using Artificial Intelligence and 3D printed for each participant to keep. Isn’t that a cool token to commemorate your participation in scientific research?
Takeaways and Next Steps
Tuning in to the lecture helped me realize the different approaches to data collection in neuroscience research. Although my project focuses on a niche sample, it is also important to understand how to make studies accessible. Although I will continue searching for genetic information in the Finnish families that the lab has information on, the broader implications for certain genetic differences must be kept in mind as well.
Thanks for tuning in!
-Caitlin
Comments:
All viewpoints are welcome but profane, threatening, disrespectful, or harassing comments will not be tolerated and are subject to moderation up to, and including, full deletion.