- Natasha (Natalie) Minkovsky,Ph.D.; (Community College of Baltimore County) - [email protected]; Team Leader
- Cathy Dobbs, Ph.D.; (Joliet Junior College) - [email protected]; Resource Specialist
- Lia Walker, Ph.D.; (Chowan University) - [email protected]; Resource Specialist
- Kaitlin Bonner, Ph.D.; (St. John Fisher University) - [email protected]; Resource Specialist
- Karla Fuller, Ph.D.; (Guttman Community College - CUNY); [email protected]; Writer
This activity is appropriate for introductory genetics college students (adaptable for more advance study or related course topics like Physiology, Microbiology, etc). .
The goal of this activity is for students to understand that most human phenotypes are controlled by genes at multiple loci. Students will use NCBI databases to explore gene variants implicated in Type 2 Diabetes and evaluate gene characteristics such as pathogenicity, type of mutation, 3D structures. Although this activity is designed for Type 2 Diabetes, it can easily be adapted to other diseases/phenotypes.
By the end of this activity, students will be able to:
- Navigate the MedGen and ClinVar databases inside of the NCBI Clinical Hub
- Describe the significance of variant classifications (ie. pathogenic/non-pathogenic, associated/not-associated with the disease of interest, ie.)
- Explain how different types of mutations can contribute to disease/different phenotypes
- Evaluate the effect of mutations on protein structure and function.
Here is a link to our draft Google Drive Folder.
- Diabetes Mellitus Information Sheet
- Sequence file collection (includes Reference Sequences and Variant Sequences)
- Genetic Code Chart
- Patient Referrals and Genetic Test Results
- Media article: "Many diagnosed with Type 2 diabetes may actually have a different form of the disease"
- Bibliography
- Student Activity Packet (contains: student worksheet, clinical sheets, Diabetes Mellitus Information sheet)
- Pre-assessment
- Post-Assessment Question Bank
- pre-assessment
- assignments
- post-assessment
This activity can be extended to include the use of BLAST search to compare mutation locations among variants.
This project was created as part of the BioEd Summit Curricula-thon, a week-long event focused on collaborative development of data-driven learning experiences. While we encourage you to explore and adapt this project, please be aware that NCBI does not provide ongoing support for it.
For general questions about NCBI software and tools, please visit: NCBI Contact Page